CDH7 - cadherin 7 Gene

Also Known as CDH7L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1005

About CDH7

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:65,750,252-65,890,337 (from NCBI)

This gene has 4 transcripts (splice variants), 263 orthologues and 33 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a type II classical Cadherin of the Cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular Cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) Cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I Cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]

CDH7 Products (4)

mRNA Protein Name
NM_001317214.3 NP_001304143.1 cadherin-7 isoform 2 precursor
NM_001362438.2 NP_001349367.1 cadherin-7 isoform 1 preproprotein
NM_004361.5 NP_004352.2 cadherin-7 isoform 1 preproprotein
NM_033646.4 NP_387450.1 cadherin-7 isoform 1 preproprotein

CDH7 Protein Structure

Cadherin

Cadherin: Cadherin domain (62 - 143)

Cadherin

Cadherin: Cadherin domain (158 - 252)

Cadherin

Cadherin: Cadherin domain (267 - 368)

Cadherin

Cadherin: Cadherin domain (382 - 473)

Cadherin

Cadherin: Cadherin domain (486 - 583)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (631 - 778)

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

cadherin-7

  • cadherin 7, type 2

Related Diseases

Diseases Alias
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

Choanal Atresia, Posterior
  • Choanal Atresia

  • Atresia Of Nares

  • Posterior Choanal Atresia

  • PCA

  • Imperforate Nares

  • Choanal Fusion

  • Congenital Stenosis Of Nares

  • Congenital Stenosis Of Choanae

  • Nasal Atresia Nos

Charge Syndrome
  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES

Waardenburg Syndrome, Type 2d
  • Waardenburg Syndrome Type 2d

  • WS2D

  • Waardenburg Syndrome, Type Iid

  • Waardenburg Syndrome Type Iid

  • Waardenburg Syndrome 2d

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

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
Mus musculus CDH7 MGD MGI:2442792
Bos taurus CDH7 VGNC VGNC:27106
Rattus norvegicus CDH7 RGD RGD:1306856
Felis catus CDH7 VGNC VGNC:60686
Canis familiaris CDH7 VGNC VGNC:39034
Macaca mulatta CDH7 VGNC VGNC:70975
Others CDH7 NCBI