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CDH7 cadherin 7 [ Homo sapiens (human) ]

Gene ID: 1005, updated on 8-Jul-2021

Summary

Official Symbol
CDH7provided by HGNC
Official Full Name
cadherin 7provided by HGNC
Primary source
HGNC:HGNC:1766
See related
Ensembl:ENSG00000081138 MIM:605806
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
CDH7L1
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CDH7 in Genome Data Viewer
Location:
18q22.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (65750252..65890337)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (63417488..63557573)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1916 Neighboring gene uncharacterized LOC105372169 Neighboring gene uncharacterized LOC105372170 Neighboring gene PRPF19 pseudogene 1

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

Associated conditions

Description Tests
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GeneReviews: Not available
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cadherin-7
Names
cadherin 7, type 2

NCBI Reference Sequences (RefSeq)

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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_001317214.3NP_001304143.1  cadherin-7 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant b. This results in a novel 3' coding region and 3' UTR, compared to variant b. The encoded isoform has a shorter and distinct C-terminus compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC023394, AC090358
    Consensus CDS
    CCDS82259.1
    UniProtKB/Swiss-Prot
    Q9ULB5
    UniProtKB/TrEMBL
    F5H5X9, Q8IY78
    Related
    ENSP00000443030.2, ENST00000536984.6
    Conserved Domains (2) summary
    cd11304
    Location:157258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73151
    CA; Cadherin repeats
  2. NM_001362438.2NP_001349367.1  cadherin-7 isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) differs in the 5' UTR compared to variant b. Variants a, b and d encode the same isoform (1).
    Source sequence(s)
    AC023394, AC090358
    Consensus CDS
    CCDS11993.1
    Conserved Domains (3) summary
    cd11304
    Location:157258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73151
    CA; Cadherin repeats
    pfam01049
    Location:631779
    Cadherin_C; Cadherin cytoplasmic region
  3. NM_004361.5NP_004352.2  cadherin-7 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_004352.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) represents the longest transcript and encodes the longer isoform (1). Variants a, b and d encode the same isoform (1).
    Source sequence(s)
    AC023394, AC090358
    Consensus CDS
    CCDS11993.1
    UniProtKB/Swiss-Prot
    Q9ULB5
    Related
    ENSP00000381058.2, ENST00000397968.4
    Conserved Domains (3) summary
    cd11304
    Location:157258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73151
    CA; Cadherin repeats
    pfam01049
    Location:631779
    Cadherin_C; Cadherin cytoplasmic region
  4. NM_033646.4NP_387450.1  cadherin-7 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_387450.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) differs in the 5' UTR compared to variant b. Variants a, b and d encode the same isoform (1).
    Source sequence(s)
    AC023394, AC090358
    Consensus CDS
    CCDS11993.1
    UniProtKB/Swiss-Prot
    Q9ULB5
    Related
    ENSP00000319166.3, ENST00000323011.7
    Conserved Domains (3) summary
    cd11304
    Location:157258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73151
    CA; Cadherin repeats
    pfam01049
    Location:631779
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    65750252..65890337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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