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CDH6 cadherin 6 [ Homo sapiens (human) ]

Gene ID: 1004, updated on 27-Jan-2020

Summary

Official Symbol
CDH6provided by HGNC
Official Full Name
cadherin 6provided by HGNC
Primary source
HGNC:HGNC:1765
See related
Ensembl:ENSG00000113361 MIM:603007
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAD6; KCAD
Summary
This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]
Expression
Broad expression in kidney (RPKM 6.1), gall bladder (RPKM 4.1) and 17 other tissues See more
Orthologs

Genomic context

See CDH6 in Genome Data Viewer
Location:
5p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (31193686..31329146)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (31193762..31329253)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1312 Neighboring gene ribosomal protein L19 pseudogene 11 Neighboring gene uncharacterized LOC105374709 Neighboring gene double homeobox 4 like 51 (pseudogene) Neighboring gene drosha ribonuclease III Neighboring gene chromosome 5 open reading frame 22

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14176, DKFZp564N1116

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeletal protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adherens junction organization TAS
Traceable Author Statement
more info
 
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion mediated by cadherin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cadherin-6
Names
cadherin 6, type 2, K-cadherin (fetal kidney)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001362435.2NP_001349364.1  cadherin-6 isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' CDS and 3' UTR, compared to variant 1, and encodes a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC091898, AC113386
    Related
    ENSP00000424843.1, ENST00000514738.5
    Conserved Domains (2) summary
    cd11304
    Location:163264
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:79157
    CA; Cadherin repeats
  2. NM_004932.4NP_004923.1  cadherin-6 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_004923.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC091898, D31784, DC353791
    Consensus CDS
    CCDS3894.1
    UniProtKB/Swiss-Prot
    P55285
    Related
    ENSP00000265071.2, ENST00000265071.3
    Conserved Domains (3) summary
    cd11304
    Location:163264
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:79157
    CA; Cadherin repeats
    pfam01049
    Location:645782
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    31193686..31329146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513921.3XP_011512223.1  cadherin-6 isoform X1

    See identical proteins and their annotated locations for XP_011512223.1

    UniProtKB/Swiss-Prot
    P55285
    Conserved Domains (3) summary
    cd11304
    Location:163264
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:79157
    CA; Cadherin repeats
    pfam01049
    Location:645782
    Cadherin_C; Cadherin cytoplasmic region
  2. XM_017008910.2XP_016864399.1  cadherin-6 isoform X1

    UniProtKB/Swiss-Prot
    P55285
    Conserved Domains (3) summary
    cd11304
    Location:163264
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:79157
    CA; Cadherin repeats
    pfam01049
    Location:645782
    Cadherin_C; Cadherin cytoplasmic region

RNA

  1. XR_001741972.2 RNA Sequence

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