1. Gene
  2. CDH12 - cadherin 12 Gene

CDH12 - cadherin 12 Gene

Homo sapiens

Also known as CDHB

Gene ID: 1010 | Gene type: protein coding

About CDH12

Cytogenetic location: 5p14.3 Genomic coordinates (GRCh38): 5:21,750,673-22,853,344 (from NCBI)

This gene has 8 transcripts (splice variants), 166 orthologues and 33 paralogues. Biased expression in brain (RPKM 1.2), adrenal (RPKM 1.2) and 6 other tissues.

Summary

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. 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. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]

CDH12 Products(9)

mRNA Protein Name
NM_001317227.2 NP_001304156.1 cadherin-12 isoform 1 preproprotein
NM_001317228.1 NP_001304157.1 cadherin-12 isoform 2 precursor
NM_001364104.2 NP_001351033.1 cadherin-12 isoform 1 preproprotein
NM_001364105.2 NP_001351034.1 cadherin-12 isoform 1 preproprotein
NM_001364106.2 NP_001351035.1 cadherin-12 isoform 1 preproprotein
NM_001364107.2 NP_001351036.1 cadherin-12 isoform 1 preproprotein
NM_001364108.2 NP_001351037.1 cadherin-12 isoform 1 preproprotein
NM_001364109.2 NP_001351038.1 cadherin-12 isoform 3
NM_004061.5 NP_004052.2 cadherin-12 isoform 1 preproprotein

CDH12 Protein Structure

Cadherin

Cadherin: Cadherin domain (63 - 151)

Cadherin

Cadherin: Cadherin domain (165 - 259)

Cadherin

Cadherin: Cadherin domain (275 - 376)

Cadherin

Cadherin: Cadherin domain (389 - 480)

Cadherin

Cadherin: Cadherin domain (493 - 590)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (638 - 784)

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

cadherin-12

Br-cadherin

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

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
Rattus norvegicus CDH12 RGD RGD:1566350
Mus musculus CDH12 MGD MGI:109503
Canis familiaris CDH12 VGNC VGNC:39021
Bos taurus CDH12 VGNC VGNC:54415
Macaca mulatta CDH12 VGNC VGNC:70806
Felis catus CDH12 VGNC VGNC:60672
Others CDH12 NCBI