PRKAR1A - protein kinase cAMP-dependent type I regulatory subunit alpha Gene

Also Known as CAR; CNC; CNC1; PKR1; TSE1; ADOHR; PPNAD1; PRKAR1; ACRDYS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5573

About PRKAR1A

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,413,623-68,551,316 (from NCBI)

This gene has 24 transcripts (splice variants), 245 orthologues, 4 paralogues and is associated with 101 phenotypes. Ubiquitous expression in heart (RPKM 107.2), thyroid (RPKM 76.1) and 25 other tissues.

Summary

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

PRKAR1A Products (8)

mRNA Protein Name
NM_001276289.2 NP_001263218.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_001276290.1 NP_001263219.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform b
NM_001278433.2 NP_001265362.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_001369389.1 NP_001356318.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_001369390.1 NP_001356319.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_002734.5 NP_002725.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_212471.3 NP_997636.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
NM_212472.2 NP_997637.1 cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a
Molecular Function GO Annotation Evidence References Source
enables cAMP-dependent protein kinase inhibitor activity IDA
IDA: Inferred from direct assay
21812984 GOA
enables cAMP-dependent protein kinase regulator activity IDA
IDA: Inferred from direct assay
21812984 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11414803 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
25097019 GOA
enables protein kinase A catalytic subunit binding IPI
IPI: Inferred from physical interaction
17911601 GOA
enables ubiquitin protein ligase binding IDA
IDA: Inferred from direct assay
21423175 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of activated T cell proliferation IMP
IMP: Inferred from mutant phenotype
17911601 GOA
involved in negative regulation of cAMP/PKA signal transduction IDA
IDA: Inferred from direct assay
21812984 GOA
acts upstream of negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
28159925 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with axoneme IDA
IDA: Inferred from direct assay
12475942 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17911601 GOA
colocalizes with immunological synapse IDA
IDA: Inferred from direct assay
17911601 GOA
part of nucleotide-activated protein kinase complex IDA
IDA: Inferred from direct assay
21812984 GOA
located in plasma membrane raft IDA
IDA: Inferred from direct assay
17911601 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
25097019 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRKAR1A Protein Structure

RIIa

RIIa: Regulatory subunit of type II PKA R-subunit (25 - 62)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (156 - 236)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (274 - 361)

  • 0
  • 100
  • 200
  • 300
  • 381 a.a.
Protein Preferred Names Protein Names

cAMP-dependent protein kinase type I-alpha regulatory subunit

  • Carney complex type 1

PRKAR1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRKAR1A P10644 AKAP7 Homo sapiens O43687-2 32296183
Intra
PRKAR1A P10644 AKAP7 Homo sapiens O43687-2 32296183
Intra
PRKAR1A P10644 SET Homo sapiens Q01105 20195357
Intra
PRKAR1A P10644 FAM153B Homo sapiens P0C7A2-2 32296183
Intra
PRKAR1A P10644 FAM153B Homo sapiens P0C7A2-2 32296183
Intra
PRKAR1A P10644 CSTPP1 Homo sapiens Q9H6J7-2 32296183
Intra
PRKAR1A P10644 CSTPP1 Homo sapiens Q9H6J7-2 32296183
Intra
PRKAR1A P10644 CSTPP1 Homo sapiens Q9H6J7-2 32296183
Intra
PRKAR1A P10644 DTX1 Homo sapiens Q86Y01 32296183
Intra
PRKAR1A P10644 DTX1 Homo sapiens Q86Y01 32296183
Intra
PRKAR1A P10644 DTX1 Homo sapiens Q86Y01 32296183
Intra
PRKAR1A P10644 SPART Homo sapiens Q8N0X7 32296183
Intra
PRKAR1A P10644 SPART Homo sapiens Q8N0X7 32296183
Intra
PRKAR1A P10644 SPART Homo sapiens Q8N0X7 32296183
Intra
PRKAR1A P10644 PRKAR1B Homo sapiens P31321 32296183
Intra
PRKAR1A P10644 PRKAR1B Homo sapiens P31321 32296183
Intra
PRKAR1A P10644 PRKAR1B Homo sapiens P31321 31980649
Intra
PRKAR1A P10644 PRKAR1B Homo sapiens P31321 33961781
Intra
PRKAR1A P10644 PRKAR1B Homo sapiens P31321 28514442
Intra
PRKAR1A P10644 PRKAR1B Homo sapiens P31321 32296183
Intra
PRKAR1A P10644 RFC2 Homo sapiens P35250 15655353
Intra
PRKAR1A P10644 RFC2 Homo sapiens P35250 15655353
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 32296183
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 32296183
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 15655353
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 31980649
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 24700472
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 32296183
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 33961781
Intra
PRKAR1A P10644 PRKACA Homo sapiens P17612 17353931
Intra
PRKAR1A P10644 RSPH3 Homo sapiens Q86UC2 32296183
Intra
PRKAR1A P10644 RSPH3 Homo sapiens Q86UC2 32296183
Intra
PRKAR1A P10644 RSPH3 Homo sapiens Q86UC2 32296183
Intra
PRKAR1A P10644 AKAP5 Homo sapiens P24588 32296183
Intra
PRKAR1A P10644 AKAP5 Homo sapiens P24588 32296183
Intra
PRKAR1A P10644 AKAP5 Homo sapiens P24588 32296183
Intra
PRKAR1A P10644 ZBED1 Homo sapiens O96006 33961781
Intra
PRKAR1A P10644 ZBED1 Homo sapiens O96006 28514442
Intra
PRKAR1A P10644 ZBED1 Homo sapiens O96006
Y2H
21900206
Intra
PRKAR1A P10644 PLEKHF2 Homo sapiens Q9H8W4 16189514
Intra
PRKAR1A P10644 C2orf88 Homo sapiens Q9BSF0 32296183
Intra
PRKAR1A P10644 C2orf88 Homo sapiens Q9BSF0 32296183
Intra
PRKAR1A P10644 C2orf88 Homo sapiens Q9BSF0 32296183
Intra
PRKAR1A P10644 C2orf88 Homo sapiens Q9BSF0 16189514
Intra
PRKAR1A P10644 GABARAPL1 Homo sapiens Q9H0R8 20562859
Cross
PRKAR1A P10644 p03259-2 Human adenovirus A P03259-2
Y2H
11414803
Cross
PRKAR1A P10644 p03259-2 Human adenovirus A P03259-2 11414803
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PRKAR1A Proteins

Cat. No. Product Name Accession Purity
HY-P71103 PRKAR1A Protein, Human (HEK293, His) P10644 (E2-V381) ≥ 90%, as determined by reducing SDS-PAGE.

PRKAR1A Antibodies

Cat. No. Product Name Application Reactivity
HY-P82006 PKA RI alpha Antibody (YA1751) WB Human, Rat
HY-P82006A PKA RI alpha Antibody (YA1751)(PBS only) WB Human, Rat

Related Diseases

Diseases Alias
Myxoma, Intracardiac
  • Atrial Myxoma, Familial

  • Intracardiac Myxoma

  • Familial Atrial Myxoma

  • INTMYX

Acrodysostosis 1 With Or Without Hormone Resistance
  • ACRDYS1

  • Adohr

  • Acrodysostosis 1, With Or Without Hormone Resistance

  • Arkless-Graham Syndrome

  • Maroteaux-Malamut Syndrome

  • Acrodysostosis

Carney Complex, Type 1
  • Carney Syndrome

  • Car

  • Name Syndrome

  • CNC1

  • Carney Myxoma-Endocrine Complex

  • Myxoma, Spotty Pigmentation, And Endocrine Overactivity

  • Lamb Syndrome

  • Carney Complex 1

  • Carney Complex

Pigmented Nodular Adrenocortical Disease, Primary, 1
  • PPNAD1

  • Pigmented Micronodular Adrenocortical Disease, Primary, 1

  • Cushing Syndrome, Adrenal, Due To Ppnad1

  • Adrenocortical Nodular Dysplasia, Primary

  • Primary Pigmented Nodular Adrenocortical Disease 1

  • Adrenal Cushing Syndrome Due To Ppnad1

  • Primary Pigmented Micronodular Adrenocortical Disease 1

  • Primary Pigmented Nodular Adrenocortical Disease-1

  • Adrenocortical Disease, Nodular, Pigmented, Primary, Type 1

Acrodysostosis
  • Acrodysplasia

  • Arkless-Graham Syndrome

  • Maroteaux-Malamut Syndrome

  • Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

  • Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

Carney Complex Variant
  • Carney Complex

  • Carney Syndrome

  • Carney Complex, Type 1

  • Lamb Syndrome

  • Name Syndrome

  • Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

  • Carney Complex - Trismus - Pseudocamptodactyly Syndrome

  • Carney Complex, Type 2

  • Car

  • Cnc1

  • Carney Myxoma-Endocrine Complex

  • Myxoma - Spotty Pigmentation - Endocrine Overactivity

  • Myxoma, Spotty Pigmentation, And Endocrine Overactivity

  • Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

  • Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

  • Carney Complex-Trismus-Pseudocamptodactyly Syndrome

  • CACOV

Primary Pigmented Nodular Adrenocortical Disease
  • Ppnad

  • Primary Pigmented Nodular Adrenal Dysplasia

  • Pigmented Nodular Adrenocortical Disease, Primary, 2

  • Pigmented Nodular Adrenocortical Disease, Primary, 1

Amelogenesis Imperfecta Hypoplastic Type, Ig
  • Amelogenesis Imperfecta Nephrocalcinosis

  • Amelogenesis Imperfecta And Nephrocalcinosis

  • Absent Enamel, Nephrocalcinosis And Apparently Normal Calcium Metabolism

  • Ers

  • Enamel Renal Syndrome

  • Generalized Enamel Hypoplasia And Renal Dysfunction

  • Ai1g

  • Enamel-Renal Syndrome

Amelogenesis Imperfecta, Type Ig
  • Enamel-Renal Syndrome

  • Ers

  • Amelogenesis Imperfecta Type 1g

  • AI1G

  • Enamel-Renal-Gingival Syndrome

  • Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome

  • Aigfs

  • Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis

  • Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis

  • Amelogenesis Imperfecta Type Ig

  • Amelogenesis Imperfecta-Nephrocalcinosis Syndrome

  • Amelogenesis Imperfecta 1g

  • Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis

  • Amelogenesis Imperfecta Nephrocalcinosis

Usher Syndrome, Type Iv
  • USH4

  • Usher Syndrome, Type 4

  • Usher Syndrome 4

Acrodysostosis With Multiple Hormone Resistance
Acute Promyelocytic Leukemia
  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic

Lentigines
  • Lentigo

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
  • Arrhythmogenic Right Ventricular Dysplasia 10

  • ARVD10

  • Arrhythmogenic Right Ventricular Cardiomyopathy 10

  • Arvc10

  • Familial Arrhythmogenic Right Ventricular Dysplasia 10

  • Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

Multiple Endocrine Neoplasia
  • Men

  • Multiple Endocrine Adenomatosis

  • Multiple Endocrine Neoplasia Syndrome

  • Adenomatosis, Familial Endocrine

  • Endocrine Neoplasia, Multiple

  • Familial Endocrine Adenomatosis

  • Mea

  • Multiple Endocrine Neoplasms

  • Multiple Endocrine Neoplasia Type 1

Acth-Independent Cushing Syndrome
  • Adrenal Cushing Syndrome

  • Adrenocorticotropic Hormone-Independent Cushing Syndrome

  • Corticotropin-Independent Cushing Syndrome

Adrenal Cortical Adenoma
  • Adrenocortical Adenoma

  • Adenoma Adrenocortical

Neurilemmoma
  • Schwannoma

  • Benign Schwannoma

  • Neurilemoma

  • Peripheral Fibroblastoma

  • Psammomatous Schwannoma

  • Neurolemmoma

  • Schwannomas

Hypocalcemia, Autosomal Dominant 1
  • Autosomal Dominant Hypocalcemia

  • Autosomal Dominant Hypocalcemia 1

  • HYPOC1

  • Hypocalcemia, Autosomal Dominant

  • Hypercalciuric Hypocalcemia

  • Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

  • Familial Hypocalcemia

  • Hypocalcemia, Familial

  • Hypoc

  • Adh

  • Autosomal Dominant Hypoparathyroidism

  • Familial Hypercalciuric Hypocalcemia

  • Ad Hypocalcemia

  • Autosomal Dominant Hypocalcemia With Bartter Syndrome

  • Hypoparathyroidism - Autosomal Dominant

  • Hypocalcemia

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Cushing'S Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Breast Ductal Adenoma
Breast Adenoma
  • Ademoma - Breast

Sertoli Cell Tumor
  • Tubular Androblastoma

Hyperparathyroidism, Neonatal Severe
  • NSHPT

  • Neonatal Severe Primary Hyperparathyroidism

  • Nsph

  • Nhpt

  • Hyperparathyroidism, Neonatal

  • Hyperparathyroidism, Neonatal Severe Primary

  • Neonatal Severe Hyperparathyroidism

  • Hyperparathyroidism, Severe, Neonatal

  • Neonatal Hyperparathyroidism

Melanotic Neurilemmoma
  • Melanotic Schwannoma

  • Pigmented Neurilemmoma

  • Pigmented Schwannoma

Prolactinoma
  • Prolactin-Producing Pituitary Gland Adenoma

  • Prolactin-Secreting Pituitary Adenoma

  • Forbes-Albright Syndrome

  • Lactotroph Adenoma

  • Prl-Secreting Pituitary Adenoma

  • Prloma

  • Pituitary Lactotrophic Adenoma

  • Familial Prolactinoma

  • Pituitary Adenoma, Prolactin-Secreting

  • Prolactinoma Of Pituitary Gland

  • PSPA

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Growth Hormone Secreting Pituitary Adenoma
  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

  • Growth Hormone Producing Adenoma Of The Pituitary

  • Growth Hormone Secreting Adenoma Of Pituitary

Thyroid Tumor
Hypoparathyroidism
  • Hypoparathyroidism, Idiopathic

  • Parathyroid, Underactivity Of

  • Syndrome With Hypoparathyroidism

  • Deficiency Of Parathyroid Hormone

  • Parathyroid Gland Insufficiency

  • Parathyroid Insufficiency

  • Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Multiple Endocrine Neoplasia, Type I
  • Multiple Endocrine Neoplasia Type 1

  • MEN1

  • Wermer Syndrome

  • Multiple Endocrine Neoplasia 1

  • Multiple Endocrine Neoplasia, Type 1

  • Men I

  • Endocrine Adenomatosis, Multiple

  • Mea I

  • Men Type I

  • Wermer'S Syndrome

  • Men1 Syndrome

  • Multiple Endocrine Adenomatosis

  • Endocrine Adenomatosis Multiple

  • Men 1

  • Familial Multiple Endocrine Neoplasia Type I

  • Neoplasia, Endocrine, Multiple, Type 1

  • Multiple Endocrine Neoplasia

Adrenal Adenoma
  • Adenoma Of The Adrenal Gland

  • Adrenal Incidentaloma

  • Adrenal Cortical Adenoma

  • Adrenocortical Adenoma

Secondary Hyperparathyroidism
  • Hyperparathyroidism Secondary

  • Hyperparathyroidism, Secondary

  • Secondary Hyperparathyroidism Nec

Pseudohypoparathyroidism
  • Familial Pseudohypoparathyroidism

  • Parathyroid Hormone Resistant Hypoparathyroidism

  • Php - [Pseudohypoparathyroidism]

  • Constitutional Chronic Hypocalcaemia

Adrenal Cortical Carcinoma
  • Adrenocortical Carcinoma

  • Adrenal Cortex Carcinoma

  • Carcinoma Of The Adrenal Cortex

  • Acc

  • Adrenocortical Cancer

  • Carcinoma Adrenocortical

Adenoma
  • Acinar Cell Adenoma

  • Adenomas

  • Acinic Cell Adenoma

Heart Cancer
  • Malignant Neoplasm Of Heart

  • Heart Neoplasm

  • Cardiac Tumor

  • Malignant Cardiac Tumor

  • Tumour Of Heart

  • Heart Neoplasms

  • Cardiac Carcinoma

Pituitary Adenoma
  • Adenoma Of The Pituitary Gland

  • Pituitary Adenomas

  • Adenoma, Pituitary

  • Pituitary Gland Adenoma

  • Pituitary Neoplasms

Adrenal Cortex Disease
  • Adrenal Cortex Diseases

Parathyroid Adenoma
  • Adenoma Of Parathyroid

  • Adenoma Of The Parathyroid Gland

  • Parathyroid Gland Adenoma

Adrenal Carcinoma
  • Adrenal Cancer

  • Adrenal Gland Cancer

  • Malignant Neoplasm Of Adrenal Gland

  • Adrenal Gland Neoplasms

  • Carcinoma Of The Adrenal Gland

  • Adrenal Neoplasm

  • Malignant Adrenal Tumor

  • Neoplasm Of Adrenal Gland

  • Tumor Of The Adrenal Gland

  • Adrenal Gland Neoplasm

  • Adrenocortical Carcinoma

  • Adrenal Gland Malignancy

  • Suprarenal Cancer

  • Malignant Neoplasm Of Suprarenal Gland

  • Malignant Neoplasm Of Adrenal Gland, Unspecified

  • Malignant Tumour Of Adrenal Gland

  • Suprarenal Gland Cancer

  • Primary Malignant Neoplasm Of Adrenal Gland

Dysostosis
  • Dysostoses

Acth-Independent Macronodular Adrenal Hyperplasia
  • Acth-Independent Macronodular Adrenocortical Hyperplasia

  • Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

  • Corticotropin-Independent Macronodular Adrenal Hyperplasia

  • Cushing Syndrome Due To Macronodular Adrenal Hyperplasia

  • AIMAH1

  • Aimah

  • Massive Macronodular Adrenocortical Disease

  • Mmad

  • Primary Macronodular Adrenal Hyperplasia

  • Cushing Syndrome, Adrenal, Due To Aimah

  • Primary Bilateral Macronodular Adrenal Hyperplasia

  • Acth-Independent Macronodular Adrenal Hyperplasia 1

  • Acth-Independent Cushing Syndrome

  • Adrenal Cushing Syndrome Due To Aimah

  • Acth-Independent Macronodular Adrenal Hyperplasia 2

Pituitary Cancer
  • Pituitary Carcinoma

  • Malignant Pituitary Neoplasm

  • Malignant Tumor Of Pituitary Gland

  • Neoplasm Of Pituitary Gland

  • Pituitary Gland Cancer

  • Pituitary Gland Neoplasm

  • Pituitary Neoplasm

  • Carcinoma Of The Pituitary Gland

  • Neoplasm Of The Pituitary Gland

  • Pituitary Neoplasms

  • Malignant Neoplasm Of Pituitary Gland

Dicer1 Syndrome
  • Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome

  • Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome

  • Ppb Familial Tumor Susceptibility Syndrome

  • Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

  • Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility

  • Dicer1-Related Pleuropulmonary Blastoma

  • Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome

  • Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome

  • Ppbftds

  • Doid:0081063

Peutz-Jeghers Syndrome
  • PJS

  • Polyposis, Hamartomatous Intestinal

  • Polyps-And-Spots Syndrome

  • Lentiginosis, Perioral

  • Periorificial Lentiginosis Syndrome

  • Hamartomatous Intestinal Polyposis

  • Hamartomatous Polyp

  • Colonic Hamartomatous Polyp

  • Gastric Peutz-Jeghers Polyp

  • Peutz Jeghers Colon Polyp

  • Peutz Jeghers Polyp

  • Peutz-Jeghers Polyp Of Small Intestine

  • Peutz-Jeghers Small Bowel Hamartoma

  • Peutz Jeghers Polyposis

  • Intestinal Polyposis-Cutaneous Pigmentation Syndrome

  • Peutz-Jeghers Polyposis

  • Polyposis, Intestinal, Ii

  • Intestinal Hamartomatous Polyposis

  • Peutz-Jeghers Polyp

  • Peutz-Jeghers Polyp Of The Stomach

  • Peutz Jehgers Polyp

  • Peutz-Jeghers Polyps Of Small Bowel

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Thyroid Carcinoma, Familial Medullary
  • Medullary Thyroid Carcinoma

  • Familial Medullary Thyroid Carcinoma

  • MTC

  • Medullary Thyroid Cancer

  • Fmtc

  • Mtc1

  • Thyroid Cancer, Medullary

  • Thyroid Carcinoma, Medullary

  • Familial Mtc

  • Thyroid Carcinoma Medullary

  • Carcinoma, Thyroid, Medullary, Familial

  • Medullary Carcinoma Of Thyroid

  • Medullary Carcinoma With Amyloid Stroma, Unspecified Site

  • Medullary Carcinoma With Amyloid Stroma Of Thyroid

Mccune-Albright Syndrome
  • Mass Syndrome

  • Polyostotic Fibrous Dysplasia

  • MAS

  • Fibrous Dysplasia Of Bone

  • Albright Syndrome

  • Mass Phenotype

  • Overlap Connective Tissue Disease

  • Mccune Albright Syndrome

  • Osteitis Fibrosa Disseminata

  • OCTD

  • Albright'S Disease

  • Pfd

  • Pofd

  • Albright'S Syndrome

  • Mccune-Albright Syndrome, Somatic, Mosaic

  • Albright'S Disease Of Bone

  • Albright'S Syndrome With Precocious Puberty

  • Albright-Mccune-Sternberg Syndrome

  • Albright-Sternberg Syndrome

  • Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty

  • Gonadotropin-Independent Female-Limited Sexual Precocity

  • Fibrous Dysplasia Polyostotic

  • Fibrous Dysplasia, Polyostotic

Brachydactyly
Pseudohypoparathyroidism, Type Ia
  • Albright'S Hereditary Osteodystrophy

  • Albright Hereditary Osteodystrophy

  • Pseudohypoparathyroidism Type 1a

  • PHP1A

  • Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

  • Pseudohypoparathyroidism Ia

  • AHO

  • Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

  • Pseudo-Pseudohypoparathyroidism

  • Pseudohypoparathyroidism Type I A

  • Php Ia

  • Pseudopseudohypoparathyroidism

  • Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

  • Pphp

  • Pseudopseudo-Hypoparathyroidism

  • Aho-Php Syndrome Ia

  • Albright Hereditary Osteodystrophy-Php Syndrome Ia

  • Pseudohypoparathyroidism 1a

  • Pseudohypoparathyroidism

Multiple Endocrine Neoplasia, Type Iv
  • Multiple Endocrine Neoplasia Type 4

  • MEN4

  • Multiple Endocrine Neoplasia 4

  • Neoplasia, Endocrine, Multiple, Type Iv

Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

Pulmonary Plasma Cell Granuloma
  • Plasma Cell Granuloma, Pulmonary

  • Granuloma, Plasma Cell, Pulmonary

  • Lymphocytic Pseudotumor Of Lung

  • Sclerosing Hemangiocytoma Of Lung

Hypertension And Brachydactyly Syndrome
  • Brachydactyly With Hypertension

  • Bilginturan Syndrome

  • HTNB

  • Brachydactyly-Arterial Hypertension Syndrome

  • Brachydactyly, Type E, With Short Stature And Hypertension

  • Bilginturan Brachydactyly

  • Brachydactyly Type E With Short Stature And Hypertension

  • Type E Brachydactyly With Short Stature And Hypertension

  • Brachydactyly Type E, With Short Stature And Hypertension

  • Hypertension With Brachydactyly

Hormone Producing Pituitary Cancer
  • Growth Hormone Producing Pituitary Tumor

  • Pituitary Tumors, Hormone Producing

  • Somatotropinoma

  • Growth Hormone-Producing Pituitary Gland Neoplasm

Basophil Adenoma
  • Adenoma, Basophil

  • Pituitary Gland Basophilic Adenoma

Lissencephaly, X-Linked, 2
  • X-Linked Lissencephaly With Abnormal Genitalia

  • Hydranencephaly With Abnormal Genitalia

  • Xlag

  • Xlisg

  • X-Linked Lissencephaly With Ambiguous Genitalia

  • LISX2

  • Lissencephaly, X-Linked 2

  • X-Linked Lissencephaly 2

  • X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

  • Xlag Syndrome

  • Lissencephaly, X-Linked, With Ambiguous Genitalia

  • Xlis2

  • X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

  • X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

  • Xlag Syndrome

  • Lissencephaly X-Linked With Ambiguous Genitalia

  • Lissencephaly, X-Linked, Type 2

  • Chromosome Xq26.3 Duplication Syndrome

Hypothyroidism, Congenital, Nongoitrous, 1
  • Tsh Resistance

  • CHNG1

  • Hypothyroidism Due To Tsh Receptor Mutations

  • Thyrotropin Resistance

  • Thyroid-Stimulating Hormone

  • Rtsh

  • Hypothyroidism Due To Unresponsiveness To Thyrotropin

  • Congenital Nongoitrous Hypothyroidism 1

  • Thyroid-Stimulating Hormone, Resistance To

  • Hypothyroidism, Nonautoimmune

  • Hypothyroidism, Congenital, Due To Tsh Resistance

  • Hypothyroidism, Congenital, Non-Goitrous, 1

  • Congenital Hypothyroidism Due To Tsh Resistance

  • Non-Autoimmune Hypothyroidism

  • Thyroid-Stimulating Hormone Resistance

  • Hypothyroidism, Congenital, Nongoitrous, Type 1

  • Hypothyroidism, Congenital, Nongoitrous, 3

  • Thyroid Hormone Resistance Syndrome

Pseudopseudohypoparathyroidism
  • PPHP

  • Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

  • Normocalcemic Pseudohypoparathyroidism

  • Aho-Pphp Syndrome

  • Albright Hereditary Osteodystrophy-Pphp Syndrome

  • Pseudohypoparathyroidism

Hyperpituitarism
Meningeal Melanocytoma
  • Leptomeningeal Melanocytoma

  • Melanocytoma Of Meninges

Fibrolamellar Carcinoma
  • Fibrolamellar Hepatocellular Carcinoma

  • Fhcc

  • Fibrolamellar Hepatocarcinoma

  • Hepatocellular Carcinoma, Fibrolamellar

  • Oncocytic Hepatocellular Tumor

  • Eosinophilic Glassy Cell Hepatoma

  • Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

  • Fl-Hcc

  • Fibrolamellar Oncocytic Hepatoma

  • Hepatocellular Carcinoma With Increased Stromal Fibrosis

  • Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Functioning Pituitary Adenoma
  • Secretory Adenoma Of The Pituitary Gland

  • Endocrine Active Pituitary Adenoma

  • Secreting Pituitary Adenoma

  • Pituitary Adenoma, Functioning

Breast Benign Neoplasm
  • Benign Tumour Of Breast

  • Benign Neoplasm Of Female Breast

Thoracic Benign Neoplasm
  • Benign Neoplasm Of Thorax

Arthrogryposis, Distal, Type 7
  • Hecht Syndrome

  • Trismus-Pseudocamptodactyly Syndrome

  • Distal Arthrogryposis Type 7

  • Dutch-Kentucky Syndrome

  • DA7

  • Hecht-Beals Syndrome

  • Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons

  • Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons

  • Arthrogryposis Distal Type 7

  • Trismus Pseudocamptodactyly Syndrome

  • Arthrogryposis, Distal, 7

Sex Cord-Gonadal Stromal Tumor
  • Sex Cord-Gonadal Stromal Tumour

  • Sex Cord Stromal Tumour

  • Sex Cord-Stromal Neoplasm

  • Specialized Gonadal Neoplasm

  • Specialized Gonadal Tumor

  • Specialized Gonadal Tumour

  • Sex Cord-Gonadal Stromal Tumors

  • Sex Cord-Stromal Tumor

  • Malignant Testicular Sex Cord-Stromal Tumor

  • Sex Cord Stromal Tumor Of Testis

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Acth-Secreting Pituitary Adenoma
  • Acth-Producing Pituitary Adenoma

  • Corticotroph Adenoma

  • Corticotropinoma

  • Pituitary-Dependent Cushing'S Disease

  • Adrenal Gland Hyperfunction

  • Cushing Syndrome

Pituitary Gland Disease
  • Pituitary Diseases

  • Pituitary Dysfunction

  • Pituitary Disease

  • Pituitary Deficiency

  • Pituitary Disorders

Osseous Heteroplasia, Progressive
  • Progressive Osseous Heteroplasia

  • POH

  • Osteoma Cutis

  • Familial Ectopic Ossification

  • Ectopic Ossification Familial Type

  • Ectopic Ossification

  • Heterotopic Ossification

  • Ectopic Ossification, Familial

  • Cutaneous Ossification

  • Myositis Ossificans Progressiva

  • Osteodermia

  • Osteosis Cutis

  • Ossification Heterotopic

  • Heteroplasia, Osseous, Progressive

  • Fibrodysplasia Ossificans Progressiva

Cowden Syndrome 1
  • Bannayan-Riley-Ruvalcaba Syndrome

  • Pten Hamartoma Tumor Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Endocrine Organ Benign Neoplasm
Neurilemmomatosis
  • Schwannomatosis

  • Neurofibromatosis Type 3

  • Nf3

  • Neurilemmomatosis Congenital Cutaneous

  • Neurinomatosis

  • Congenital Cutaneous Neurilemmomatosis

  • Multiple Neurilemmomas

  • Multiple Schwannomas

  • Neurilemmomatosis, Congenital Cutaneous

  • Schwannomatosis 1

  • Neurofibromatosis 3

  • Mixed Central And Peripheral Neurofibromatosis

  • Nf3 - [Neurofibromatosis Type 3]

Skin Tag
  • Fibroepithelial Polyp

  • Fibroepithelial Polyp Of Skin

  • Soft Fibroma

  • Skin Tags

  • Cutaneous Tag

  • Gardner Fibroma

  • Acrochordon

  • Fibroma Molle

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Pseudohypoparathyroidism, Type Ib
  • Pseudohypoparathyroidism Type 1b

  • PHP1B

  • Pseudohypoparathyroidism Ib

  • Pseudohypoparathyroidism Type Ib

  • Php Ib

  • Pseudohypoparathyroidism 1b

Li-Fraumeni Syndrome
  • Sarcoma Family Syndrome Of Li And Fraumeni

  • Sbla Syndrome

  • LFS

  • Li-Fraumeni Familiar Cancer Susceptibility Syndrome

  • Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

  • Lfs1

  • Li Fraumeni Syndrome

  • Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

  • Lfl

  • Sbla Syndrome Li-Fraumeni-Like Syndrome

  • Li-Fraumeni Syndrome 1

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PRKAR1A VGNC VGNC:54342
Rattus norvegicus PRKAR1A RGD RGD:3391
Macaca mulatta PRKAR1A VGNC VGNC:99211
Bos taurus PRKAR1A VGNC VGNC:33324
Felis catus PRKAR1A VGNC VGNC:69050
Mus musculus PRKAR1A MGD MGI:104878
Others PRKAR1A NCBI