1. Gene
  2. CDH15 - cadherin 15 Gene

CDH15 - cadherin 15 Gene

Homo sapiens

Also known as CDH3; CDHM; MCAD; MRD3; CDH14

Gene ID: 1013 | Gene type: protein coding

About CDH15

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,171,748-89,195,492 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues, 33 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]

CDH15 Products(1)

mRNA Protein Name
NM_004933.3 NP_004924.1 cadherin-15 preproprotein

CDH15 Protein Structure

Cadherin

Cadherin: Cadherin domain (52 - 142)

Cadherin

Cadherin: Cadherin domain (158 - 250)

Cadherin

Cadherin: Cadherin domain (272 - 367)

Cadherin

Cadherin: Cadherin domain (382 - 474)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (630 - 782)

  • 0
  • 200
  • 400
  • 600
  • 814 a.a.
Protein Preferred Names Protein Names

cadherin-15

cadherin 15, type 1, M-cadherin (myotubule)

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 3

MRD3

Autosomal Dominant Non-Syndromic Intellectual Disability 3

Mental Retardation, Autosomal Dominant 3

Autosomal Dominant Intellectual Developmental Disorder 3

Autosomal Dominant Non-Syndromic Intellectual Disability
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy

HJMD

Congenital Hypotrichosis With Juvenile Macular Dystrophy

Hypotrichosis With Cone-Rod Dystrophy

Hypotrichosis With Juvenile Macular Dystrophy

Juvenile Macular Degeneration And Hypotrichosis

Juvenile Macular Dystrophy And Congenital Hypotrichosis

Hypotrichosis With Juvenile Macular Degeneration

Hypotrichosis Congenital With Juvenile Macular Dystrophy

Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome

Eem Syndrome

Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy

EEMS

Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome

Albrectsen-Svendsen Syndrome

Ohdo-Hirayama-Terawaki Syndrome

Dysplasia, Ectodermal, Ectrodactyly, And Macular Dystrophy

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4

Autosomal Dominant Non-Syndromic Intellectual Disability 4

Mental Retardation, Autosomal Dominant 4

Autosomal Dominant Intellectual Developmental Disorder 4

Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp

T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

Winged Helix Deficiency

Alymphoid Cystic Thymic Dysgenesis

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome

Pignata Guarino Syndrome

TIDAND

T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy

Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency

Severe Combined Immunodeficiency Due To Foxn1 Deficiency

Foxn1 Deficiency

Nude/Scid

Nude/Severe Combined Immunodeficiency

Scid Due To Foxn1 Deficiency

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy

Craniofacial-Deafness-Hand Syndrome

CDHS

Craniofacial Deafness Hand Syndrome

Sommer-Young-Wee-Frye Syndrome

Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss

Craniofacial-Hearing Loss-Hand Syndrome

Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Macaca mulatta CDH15 VGNC VGNC:70808
Felis catus CDH15 VGNC VGNC:60673
Canis familiaris CDH15 VGNC VGNC:39023
Rattus norvegicus CDH15 RGD RGD:1303000
Mus musculus CDH15 MGD MGI:106672
Bos taurus CDH15 VGNC VGNC:27094