PTCH1 - patched 1 Gene

Also Known as PTC; BCNS; PTC1; PTCH; NBCCS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5727

About PTCH1

Cytogenetic location: 9q22.32 Genomic coordinates (GRCh38): 9:95,442,980-95,516,971 (from NCBI)

This gene has 28 transcripts (splice variants), 217 orthologues, 10 paralogues and is associated with 152 phenotypes. Broad expression in endometrium (RPKM 11.5), testis (RPKM 8.7) and 24 other tissues.

Summary

This gene encodes a member of the patched family of proteins and a component of the Hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted Hedgehog ligands, which include sonic Hedgehog, indian Hedgehog and desert Hedgehog. Following binding by one of the Hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

PTCH1 Products (9)

mRNA	Protein	Name
NM_000264.5	NP_000255.2	protein patched homolog 1 isoform L
NM_001083602.3	NP_001077071.1	protein patched homolog 1 isoform M
NM_001083603.3	NP_001077072.1	protein patched homolog 1 isoform L'
NM_001083604.3	NP_001077073.1	protein patched homolog 1 isoform S
NM_001083605.3	NP_001077074.1	protein patched homolog 1 isoform S
NM_001083606.3	NP_001077075.1	protein patched homolog 1 isoform S
NM_001083607.3	NP_001077076.1	protein patched homolog 1 isoform S
NM_001354918.2	NP_001341847.1	protein patched homolog 1 isoform 8
NM_001354919.2	NP_001341848.1	protein patched homolog 1 isoform 9

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	21931618	GOA
enables cyclin binding	IPI IPI: Inferred from physical interaction	11331587	GOA
enables hedgehog family protein binding	IPI IPI: Inferred from physical interaction	9811851	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19502428	GOA
enables smoothened binding	IPI IPI: Inferred from physical interaction	9811851	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to cholesterol	IMP IMP: Inferred from mutant phenotype	11278759	GOA
involved in limb morphogenesis	IMP IMP: Inferred from mutant phenotype	8681379	GOA
involved in metanephric collecting duct development	IEP IEP: Inferred from expression pattern	17850284	GOA
involved in negative regulation of DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	16229683	GOA
involved in negative regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	16229683	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	16229683	GOA
involved in neural tube patterning	IMP IMP: Inferred from mutant phenotype	8681379	GOA
involved in pharyngeal system development	IMP IMP: Inferred from mutant phenotype	8681379	GOA
involved in positive regulation of cholesterol efflux	IDA IDA: Inferred from direct assay	21931618	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	11278759	GOA
involved in smooth muscle tissue development	IEP IEP: Inferred from expression pattern	17850284	GOA
involved in somite development	IMP IMP: Inferred from mutant phenotype	8681379	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with Golgi apparatus	IDA IDA: Inferred from direct assay	11278759	GOA
located in apical part of cell	IDA IDA: Inferred from direct assay	17850284	GOA
located in caveola	IDA IDA: Inferred from direct assay	11278759	GOA
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	11278759	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11278759	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11278759	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

PTCH1 Protein Structure

Sterol-sensing

Patched

0
300
600
900
1200
1447 a.a.

Protein Preferred Names	Protein Names
protein patched homolog 1

PTCH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PTCH1	Q13635	GRK2	Homo sapiens	P25098	Anti Bait CoIP	19502428
Intra	PTCH1	Q13635	GRK2	Homo sapiens	P25098	Anti Tag CoIP	19502428
Intra	PTCH1	Q13635	CCNB1	Homo sapiens	P14635	Anti Tag CoIP	19502428
Intra	PTCH1	Q13635	CDON	Homo sapiens	Q4KMG0	Anti Bait CoIP	21802063
Cross	PTCH1	Q13635	Cdon	Rattus norvegicus	O35158	Anti Tag CoIP	21802063
Cross	PTCH1	Q13635	Cdon	Rattus norvegicus	O35158	Anti Bait CoIP	21802063

Cross: Cross-species interaction Intra: Intraspecies interaction

PTCH1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810913	Patched Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P87021	Patched/PTCH1 Antibody (YA6714)	WB	Human

Related Diseases

Diseases	Alias
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Holoprosencephaly 7	HPE7 Holoprosencephaly-7 Holoprosencephaly, Type 7
Basal Cell Carcinoma 1	Basal Cell Carcinoma, Susceptibility To, 1 Basal Cell Carcinoma BCC1 BCC Multiple Basal Cell Carcinoma Non-Syndromic Basal Cell Carcinoma Carcinoma, Basal Cell, Susceptibility To, Type 1 Experimental Organism Basal Cell Carcinoma Basal Cell Carcinoma, Multiple
Lobar Holoprosencephaly
Overgrowth Syndrome	Overgrowth Congenital Malformation Syndromes Involving Early Overgrowth
Precocious Puberty	Familial Precocious Puberty Idiopathic Sexual Precocity Sexual Precocity Puberty Precocious Cryptogenic Sexual Precocity
Basal Cell Carcinoma, Multiple	Multiple Basal Cell Carcinoma
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
Microform Holoprosencephaly	Hpe, Minor Form Hpe-L Holoprosencephaly, Minor Form Holoprosencephaly-Like Microform Hpe
Midline Interhemispheric Variant Of Holoprosencephaly	Mih Mih Type Hpe Mihf Mihv Middle Interhemispheric Fusion Variant Middle Interhemispheric Variant Of Holoprosencephaly Syntelencephaly
Septopreoptic Holoprosencephaly	Septopreoptic Hpe
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Schilbach-Rott Syndrome	Ocular Hypotelorism, Submucosal Cleft Palate, And Hypospadias Blepharofacioskeletal Syndrome Brss SBRS Cleft Palate, Hypotelorism, And Hypospadias Hypotelorism Cleft Palate Hypospadias Hypotelorism-Cleft Palate-Hypospadias Syndrome Brooke-Spiegler Syndrome
Monosomy 9q22.3	Microdeletion 9q22.3
Ameloblastoma	Adenoameloblastoma
Triphalangeal Thumb With Polysyndactyly	Triphalangeal Thumb-Polysyndactyly Syndrome Tpt-Ps Syndrome TPTPS
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Fibroma
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Anterior Segment Dysgenesis 5	Anterior Segment Dysgenesis 5, Multiple Subtypes ASGD5 Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes
Polydactyly, Preaxial Ii	PPD2 Polydactyly Of A Triphalangeal Thumb Polydactyly, Preaxial Type Ii Triphalangeal Thumb, Type I Preaxial Polydactyly Type 2 Triphalangeal Thumb-Polysyndactyly Syndrome Polydactyly Of Triphalangeal Thumb Triphalangeal Thumb-Polydactyly Syndrome Preaxial Polydactyly 2 TPTPS Polydactyly, Preaxial, Type Ii
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Congenital Hydrocephalus	Hydrocephalus Hydrocephalus Adverse Event Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus In Newborn Congenital Hydrocephaly
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Rhabdomyosarcoma
Spina Bifida Occulta
Holoprosencephaly, Recurrent Infections, And Monocytosis
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Testicular Thecoma
Follicular Basal Cell Carcinoma	Follicular Basal Cell Carcinoma Skin Follicular Basal Cell Carcinoma Basal Cell Carcinoma - Follicular
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Multiple Self-Healing Squamous Epithelioma	MSSE Ess1 Ferguson-Smith Type Epithelioma Ferguson-Smith Disease Self-Healing Squamous Epithelioma Type 1 Multiple Self-Healing Squamous Epithelioma, Susceptibility To Ferguson-Smith-Type Epithelioma Ess1, Formerly Multiple Self Healing Squamous Epithelioma Familial Primary Self-Healing Squamous Epithelioma Of The Skin, Ferguson-Smith Type Multiple Keratoacanthoma, Ferguson-Smith Type Epithelioma, Squamous, Multiple Self Healing
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
Heart Tumor	Intracavitary Tumors Myocardial Tumors Primary Cardiac Tumors, Childhood Heart Neoplasm Intracavitary Tumors Of The Heart Neoplasm Of Myocardium
Fibroepithelial Basal Cell Carcinoma	Fibroepithelioma Of Pinkus Fibroepithelioma Of Pinkus Type Pinkus Tumor
Cerebellar Medulloblastoma
Focal Dermal Hypoplasia	Goltz Syndrome Goltz-Gorlin Syndrome FDH FODH Dhof Goltz Gorlin Syndrome Hypoplasia, Dermal, Focal
Basosquamous Carcinoma	Carcinoma, Basosquamous Basisquamous Cell Carcinoma Basosquamous Cell Carcinoma Metatypical Carcinoma
Brachydactyly
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Alstrom Syndrome	ALMS Alström Syndrome Alss Alstrom-Hallgren Syndrome Alstroem Syndrome
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Desmoplastic Nodular Medulloblastoma	Medulloblastoma With Extensive Nodularity Nodular Medulloblastoma Desmoplastic/Nodular Medulloblastoma Mben Medulloblastoma, With Extensive Nodularity
Cerebellum Cancer	Cerebellar Neoplasms Cerebellar Cancer Malignant Tumor Of Cerebellum Malignant Neoplasm Of Cerebellum
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
Benign Teratoma	Dermoid Cyst Cystic Dermoid Choristoma Dermoid Choristoma Mature Cystic Teratoma Dermoid Tumour Teratoma, Benign Dermoid Cyst Of Ovary
Adult Medulloblastoma	Adult Brain Medulloblastoma Medulloblastoma, Adult
Basal Cell Carcinoma, Infundibulocystic	Basal Cell Carcinoma With Follicular Differentiation Infundibulocystic Basal Cell Carcinoma Skin Infundibulocystic Basal Cell Carcinoma
Internal Auditory Canal Lipoma	Lipoma Of The Internal Auditory Canal Inner Ear Lipoma
Hashimoto Thyroiditis	Autoimmune Thyroiditis Hashimoto Struma Hashimoto'S Thyroiditis Chronic Lymphocytic Thyroiditis Lymphocytic Thyroiditis Hashimoto Disease Ht Hashimoto'S Disease Hashimoto'S Syndrome Hypothyroidism, Autoimmune Autoimmune Chronic Lymphocytic Thyroiditis Chronic Lymphocytic Thyroiditides Hashimoto Syndrome Hashimotos Thyroiditis Hashimoto Thyroiditis, Susceptibility To Thyroiditis, Autoimmune Lymphomatous Thyroiditis Lymphoid Thyroiditis Chronic Lymphadenoid Thyroiditis Autoimmune Lymphocytic Chronic Thyroiditis Goitre Lymphomatosa Hashitoxicosis Hashimoto Hypothyroidism Lymphadenoid Goitre Struma Lymphomatosa Hyperthyroidism With Hashimoto Disease Hashimoto Thyrotoxicosis Thyrotoxicosis Due To Hashimoto Thyroiditis Struma Lymphomatosis Lymphadenoid Struma
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Pericytoma With T(7;12)
Acrocapitofemoral Dysplasia	ACFD Dysplasia, Acrocapitofemoral
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Infiltrative Basal Cell Carcinoma	Skin Infiltrating Basal Cell Carcinoma
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
Solitary Median Maxillary Central Incisor	SMMCI Fused Incisors Single Upper Central Incisor Single Central Maxillary Incisor Single Median Maxillary Central Incisor Solitary Median Maxillary Central Incisor Syndrome Incisors Fused Incisors, Fused
Megalencephaly	Macroencephaly Macrencephaly
Holoprosencephaly 6	HPE6
Childhood Medulloblastoma	Medulloblastoma, Childhood Pediatric Medulloblastoma Medulloblastoma Childhood
Tinea Capitis	Dermatophytosis Of Scalp Scalp Ringworm Dermatophytosis Of Scalp Or Beard Tinea Capitis Due To Trichophyton Rubrum Trichophyton Rubrum Tinea Capitis
Holoprosencephaly 11	HPE11 Holoprosencephaly-11 Holoprosencephaly, Type 11
Micronodular Basal Cell Carcinoma	Skin Micronodular Basal Cell Carcinoma Basal Cell Carcinoma, Micronodular
Holoprosencephaly 3	HPE3 Hlp3 Holoprosencephaly-3 Holoprosencephaly, Type 3
Vulva Basal Cell Carcinoma	Basal Cell Carcinoma Of Vulva Basal Cell Carcinoma Of The Vulva
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Large Cell Medulloblastoma
Cystic Basal Cell Carcinoma	Skin Cystic Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma	Skin Pigmented Basal Cell Carcinoma
Skeletal Muscle Cancer	Malignant Tumor Of Skeletal Muscle Skeletal Muscle Neoplasm
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Clear Cell Basal Cell Carcinoma	Skin Clear Cell Basal Cell Carcinoma
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Anterior Cranial Fossa Meningioma	Meningioma Of The Anterior Fossa
Multiple Endocrine Neoplasia, Type Iib	Multiple Endocrine Neoplasia Type 2b MEN2B Wagenmann-Froboese Syndrome Multiple Endocrine Neoplasia Iib Mucosal Neuroma Syndrome Multiple Endocrine Neoplasia, Type 3 Multiple Endocrine Neoplasia, Type 2b Men Iib Neuromata, Mucosal, With Endocrine Tumors Multiple Endocrine Neoplasia, Type Iii, Formerly Men3, Formerly Men Type Iib Men 2b Multiple Endocrine Neoplasia Type 3 Multiple Neoplasia 2b Neoplasia, Endocrine, Multiple, Type Iib
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Muscle Cancer	Myosarcoma Malignant Neoplasm Of Muscle Malignant Tumor Of Muscle Malignant Tumor Of The Muscle Muscle Neoplasms Myomatous Neoplasm
Ovary Leiomyosarcoma	Leiomyosarcoma Of Ovary
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
Borst-Jadassohn Intraepidermal Carcinoma	Intraepidermal Epithelioma Of Jadassohn Bowen'S Disease, Clonal
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Metatypical Basal Cell Carcinoma	Skin Metatypical Carcinoma Basosquamous Carcinoma Of Skin Skin Metatypical Basal Cell Carcinoma
Hair Follicle Neoplasm	Hair Matrix Neoplasm Hair Matrix Tumour
Penis Carcinoma In Situ	Carcinoma In Situ Of Penis Bowen'S Disease Of Penis Grade Iii Squamous Intraepithelial Lesion Of Penis Penile Intraepithelial Neoplasia Grade Iii Queyrat'S Erythroplasia Erythroplasia Of Queyrat Pin - [Penile Intraepithelial Neoplasia]
Joubert Syndrome 8	JBTS8 Joubert Syndrome, Type 8
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Small Intestine Leiomyoma	Leiomyoma, Small Bowel Leiomyoma Of Small Intestine
Brooke-Spiegler Syndrome	Cyld Cutaneous Syndrome Spiegler-Brooke Syndrome Familial Cylindromatosis BRSS Bss Sbs Multiple Familial Trichoepithelioma Ancell-Spiegler Cylindromas Familial Multiple Trichoepithelioma Trichoepithelioma Fc Mft Multiple Familial Trichoepitheliomas Ccs Turban Tumor Syndrome Schilbach-Rott Syndrome Eccrine Dermal Cylindroma Familial Multiple Trichoepitheliomata
Laryngeal Neuroendocrine Tumor	Laryngeal Neuroendocrine Tumour Neuroendocrine Tumor Of Larynx Neuroendocrine Tumour Of Larynx Neuroendocrine Neoplasm Of Larynx
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Joubert Syndrome 24	JBTS24
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
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Orofacial Cleft	Cleft, Orofacial
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Joubert Syndrome 32	JBTS32
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Integumentary System Disease
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Anus Basaloid Carcinoma	Basaloid Carcinoma Of The Anus Anal Basaloid Carcinoma
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10875	HL2-m5	Inhibitor	98.06%	Unkown
HY-137567	Prostaglandin E1 ethanolamide	Activator	/	Unkown
HY-153499	SMO-IN-4	Antagonist	/	Unkown
HY-183335	SMO-IN-6		/	Unkown
HY-RS11356	PTCH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18678	Ptch1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25164	Ptch1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PTCH1	VGNC	VGNC:49951
Rattus norvegicus	PTCH1	RGD	RGD:621425
Mus musculus	PTCH1	MGD	MGI:105373
Felis catus	PTCH1	VGNC	VGNC:69135
Macaca mulatta	PTCH1	VGNC	VGNC:76463
Bos taurus	PTCH1	VGNC	VGNC:106881
Others	PTCH1	NCBI