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DCHS2 dachsous cadherin-related 2 [ Homo sapiens (human) ]

Gene ID: 54798, updated on 11-Jun-2021

Summary

Official Symbol
DCHS2provided by HGNC
Official Full Name
dachsous cadherin-related 2provided by HGNC
Primary source
HGNC:HGNC:23111
See related
Ensembl:ENSG00000197410 MIM:612486
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
CDHJ; CDH27; CDHR7; PCDHJ; PCDH23
Summary
This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]
Expression
Broad expression in stomach (RPKM 1.1), testis (RPKM 0.9) and 16 other tissues See more
Orthologs
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Genomic context

See DCHS2 in Genome Data Viewer
Location:
4q31.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (154231742..154491799, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155152894..155412951, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927947 Neighboring gene Sharpr-MPRA regulatory region 5783 Neighboring gene secreted frizzled related protein 2 Neighboring gene kelch domain containing 4 pseudogene Neighboring gene WD repeat domain 77 pseudogene Neighboring gene RNA, U6 small nuclear 1285, pseudogene Neighboring gene pleiotropic regulator 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
Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
GeneReviews: Not available
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
GeneReviews: Not available
Genome-wide association of serum bilirubin levels in Korean population.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20047

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in condensed mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
involved_in nephron development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protocadherin-23
Names
cadherin J
cadherin-like 27
cadherin-like protein CDHJ
cadherin-like protein VR8
cadherin-related family member 7
protein dachsous homolog 2
protocadherin 23
protocadherin J
protocadherin PCDHJ

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.

Genomic

  1. NG_054879.1 RefSeqGene

    Range
    5054..262404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142552.2NP_001136024.1  protocadherin-23 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon and lacks several 3' coding exons, compared to variant 3. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AC110775, AK127704, AY354497, AY354498, BC140919, DB288709
    Consensus CDS
    CCDS47150.1
    UniProtKB/Swiss-Prot
    Q6V1P9
    UniProtKB/TrEMBL
    A0A0A0MRC0, Q6V1P8
    Related
    ENSP00000345062.1, ENST00000339452.2
    Conserved Domains (1) summary
    cd11304
    Location:300409
    Cadherin_repeat; Cadherin tandem repeat domain
  2. NM_001358235.2NP_001345164.1  protocadherin-23 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform 3.
    Source sequence(s)
    AC079298, AC110775, AK127704, AY354497, AY354498, BC140919, BX647835
    Consensus CDS
    CCDS87275.1
    Related
    ENSP00000349768.5, ENST00000357232.10
    Conserved Domains (2) summary
    cd11304
    Location:22462343
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:21622240
    CA; Cadherin repeats

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    154231742..154491799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532046.2XP_011530348.1  protocadherin-23 isoform X1

    Conserved Domains (1) summary
    cd11304
    Location:14691566
    Cadherin_repeat; Cadherin tandem repeat domain
  2. XM_011532049.2XP_011530351.1  protocadherin-23 isoform X2

    Conserved Domains (2) summary
    cd11304
    Location:581678
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:957
    CA; Cadherin repeats

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017363814.1 Reference GRCh38.p13 PATCHES

    Range
    159371..419428 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001142553.1: Suppressed sequence

    Description
    NM_001142553.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_017639.3: Suppressed sequence

    Description
    NM_017639.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
  3. NM_199348.1: Suppressed sequence

    Description
    NM_199348.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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