CDH15 - cadherin 15 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1013

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

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)

CDH15 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CDH15 P55291 SGTA Homo sapiens O43765 32296183
Intra
CDH15 P55291 SGTA Homo sapiens O43765 32296183
Intra
CDH15 P55291 SGTB Homo sapiens Q96EQ0 32296183
Intra
CDH15 P55291 SGTB Homo sapiens Q96EQ0 32296183
Intra
CDH15 P55291 SGTB Homo sapiens Q96EQ0 32296183
Intra
CDH15 P55291 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
CDH15 P55291 UBQLN2 Homo sapiens Q9UHD9 32296183
Intra
CDH15 P55291 UBQLN2 Homo sapiens Q9UHD9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others CDH15 NCBI