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CDH7 cadherin 7 [ Homo sapiens (human) ]

Gene ID: 1005, updated on 11-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
18q22.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (65750252..65890337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (65956460..66096655)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Common variants in the CDH7 gene are associated with major depressive disorder in the Han Chinese population. Li X, et al. Behav Genet, 2014 Mar. PMID 24554215
  2. Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration. Winklmeier A, et al. Cancer Sci, 2009 Feb. PMID 19200257
  3. Cadherins and neuropsychiatric disorders. Redies C, et al. Brain Res, 2012 Aug 27. PMID 22765916
  4. Involvement of cadherins 7 and 20 in mouse embryogenesis and melanocyte transformation. Moore R, et al. Oncogene, 2004 Sep 2. PMID 15273735
  5. Characterization of three novel human cadherin genes (CDH7, CDH19, and CDH20) clustered on chromosome 18q22-q23 and with high homology to chicken cadherin-7. Kools P, et al. Genomics, 2000 Sep 15. PMID 10995570

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Our results support CDH7 to be a risk factor of major depressive disorder in the Han Chinese population
    Title: Common variants in the CDH7 gene are associated with major depressive disorder in the Han Chinese population.
  2. Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration.
    Title: Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. During oncogenesis, cadherin-7, N-cad and E-cad could be used as an efficient marker set for melanoma.
    Title: Involvement of cadherins 7 and 20 in mouse embryogenesis and melanocyte transformation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell-cell adhesion mediated by cadherin IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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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_001317214.3 → NP_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:157 → 258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73 → 151
    CA; Cadherin repeats

  2. NM_001362438.2 → NP_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:157 → 258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73 → 151
    CA; Cadherin repeats
    pfam01049
    Location:631 → 779
    Cadherin_C; Cadherin cytoplasmic region

  3. NM_004361.5 → NP_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:157 → 258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73 → 151
    CA; Cadherin repeats
    pfam01049
    Location:631 → 779
    Cadherin_C; Cadherin cytoplasmic region

  4. NM_033646.4 → NP_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:157 → 258
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:73 → 151
    CA; Cadherin repeats
    pfam01049
    Location:631 → 779
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULB5.2 GenPept UniProtKB/Swiss-Prot:Q9ULB5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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