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CDH7 cadherin 7 [ Homo sapiens (human) ]

Gene ID: 1005, updated on 4-Jan-2025

Summary

Official Symbol
CDH7provided by HGNC
Official Full Name
cadherin 7provided by HGNC
Primary source
HGNC:HGNC:1766
See related
Ensembl:ENSG00000081138 MIM:605806; AllianceGenome:HGNC:1766
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (65750252..65890337)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (65956460..66096655)
RS_2024_09 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 BRD4-independent group 4 enhancer GRCh37_chr18:63231174-63232373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:63287142-63287684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:63287685-63288227 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:63326730-63327929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:63418189-63418690 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:63547268-63548467 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:63573697-63574260 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:63574261-63574822 Neighboring gene uncharacterized LOC105372170 Neighboring gene PRPF19 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
EBI GWAS Catalog
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.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding  
enables cadherin binding  
enables calcium ion binding  
Process Evidence Code Pubs
involved_in adherens junction organization  
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  
involved_in cell migration  
involved_in cell morphogenesis  
involved_in cell-cell adhesion PubMed 
involved_in cell-cell adhesion mediated by cadherin  
involved_in cell-cell junction assembly  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules  
Component Evidence Code Pubs
is_active_in adherens junction  
part_of catenin complex  
located_in plasma membrane  

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/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
    UniProtKB/Swiss-Prot
    Q9H157, Q9ULB5
    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
    Q9H157, 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
    Q9H157, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    65956460..66096655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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