ARMC5 - armadillo repeat containing 5 Gene

Also Known as AIMAH2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79798

About ARMC5

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,458,304-31,467,167 (from NCBI)

This gene has 7 transcripts (splice variants), 187 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.5), spleen (RPKM 2.1) and 25 other tissues.

Summary

This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

ARMC5 Products (4)

mRNA Protein Name
NM_001105247.2 NP_001098717.1 armadillo repeat-containing protein 5 isoform a precursor
NM_001288767.2 NP_001275696.1 armadillo repeat-containing protein 5 isoform c
NM_001301820.1 NP_001288749.1 armadillo repeat-containing protein 5 isoform d
NM_024742.2 NP_079018.1 armadillo repeat-containing protein 5 isoform b precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28169274 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
24283224 GOA
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
24283224 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
Protein Preferred Names Protein Names

armadillo repeat-containing protein 5

ARMC5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ARMC5 Q96C12 SPAG8 Homo sapiens Q99932-2 32296183
Intra
ARMC5 Q96C12 CNOT2 Homo sapiens Q9NZN8 32296183
Intra
ARMC5 Q96C12 ENKD1 Homo sapiens Q9H0I2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Acth-Independent Macronodular Adrenal Hyperplasia 2
  • AIMAH2

  • Primary Macronodular Adrenal Hyperplasia

  • Acth-Independent Macronodular Adrenal Hyperplasia

  • Acth-Independent Macronodular Adrenocortical Hyperplasia

  • Adrenal Cushing Syndrome Due To Aimah

  • Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

  • Aimah

  • Corticotropin-Independent Macronodular Adrenal Hyperplasia

  • Pmah

  • Primary Bilateral Macronodular Adrenal Hyperplasia

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

Acth-Independent Cushing Syndrome
  • Adrenal Cushing Syndrome

  • Adrenocorticotropic Hormone-Independent Cushing Syndrome

  • Corticotropin-Independent Cushing Syndrome

Hypothalamic Neoplasm
  • Hypothalamic Neoplasms

  • Neoplasm Of The Hypothalamus

  • Tumor Of Hypothalamus

Diencephalic Neoplasm
  • Malignant Diencephalic Neoplasm

  • Malignant Diencephalic Tumor

  • Tumor Of Diencephalon

Primary Pigmented Nodular Adrenocortical Disease
  • Ppnad

  • Primary Pigmented Nodular Adrenal Dysplasia

  • Pigmented Nodular Adrenocortical Disease, Primary, 2

  • Pigmented Nodular Adrenocortical Disease, Primary, 1

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

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
Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

Intracranial Meningioma
  • Meningioma

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

Brain Meningioma
  • Intracranial Meningioma

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

Adrenal Adenoma
  • Adenoma Of The Adrenal Gland

  • Adrenal Incidentaloma

  • Adrenal Cortical Adenoma

  • Adrenocortical Adenoma

Cerebral Meningioma
  • Meningioma Of Cerebrum

Adrenal Cortex Disease
  • Adrenal Cortex Diseases

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 Cortical Carcinoma
  • Adrenocortical Carcinoma

  • Adrenal Cortex Carcinoma

  • Carcinoma Of The Adrenal Cortex

  • Acc

  • Adrenocortical Cancer

  • Carcinoma Adrenocortical

Lipoid Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism

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

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

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
Bos taurus ARMC5 VGNC VGNC:26159
Felis catus ARMC5 VGNC VGNC:59934
Canis familiaris ARMC5 VGNC VGNC:38126
Rattus norvegicus ARMC5 RGD RGD:1306553
Mus musculus ARMC5 MGD MGI:2384586
Macaca mulatta ARMC5 VGNC VGNC:69910
Others ARMC5 NCBI