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CDH22 cadherin 22 [ Homo sapiens (human) ]

Gene ID: 64405, updated on 11-Apr-2024

Summary

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Official Symbol
CDH22provided by HGNC
Official Full Name
cadherin 22provided by HGNC
Primary source
HGNC:HGNC:13251
See related
Ensembl:ENSG00000149654 MIM:609920; AllianceGenome:HGNC:13251
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
C20orf25; dJ998H6.1
Summary
This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 3.4), skin (RPKM 1.8) and 4 other tissues See more
Orthologs
mouse all
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Genomic context

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See CDH22 in Genome Data Viewer
Location:
20q13.12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46173739..46308498, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47909792..48044527, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44802378..44937137, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17960 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44731180-44731415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17962 Neighboring gene CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 Neighboring gene ribosomal protein L13 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17967 Neighboring gene CD40 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44781551-44782092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12973 Neighboring gene uncharacterized LOC124904916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17968 Neighboring gene Sharpr-MPRA regulatory region 13247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44844486-44845022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44845561-44846096 Neighboring gene MPRA-validated peak4226 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44886736-44887236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44928578-44929078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44929079-44929579 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44932028-44932246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44941853-44942801 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44952422-44952611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44966161-44966662 Neighboring gene Sharpr-MPRA regulatory region 3506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44979919-44980510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44980511-44981101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44985189-44985688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12974 Neighboring gene uncharacterized LOC124904917 Neighboring gene solute carrier family 35 member C2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17971 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:45022873-45023372 Neighboring gene engulfment and cell motility 2

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. CDH22 hypermethylation is an independent prognostic biomarker in breast cancer. Martín-Sánchez E, et al. Clin Epigenetics, 2017. PMID 28149335, Free PMC Article
  2. Over-expression of CDH22 is associated with tumor progression in colorectal cancer. Zhou J, et al. Tumour Biol, 2009. PMID 19546606
  3. Expression of a novel factor, short-type PB-cadherin, in Sertoli cells and spermatogenic stem cells of the neonatal rat testis. Wu J, et al. J Endocrinol, 2003 Mar. PMID 12630923
  4. Hypoxia activates cadherin-22 synthesis via eIF4E2 to drive cancer cell migration, invasion and adhesion. Kelly NJ, et al. Oncogene, 2018 Feb 1. PMID 28991229, Free PMC Article
  5. PRL-3 promotes epithelial mesenchymal transition by regulating cadherin directly. Liu Y, et al. Cancer Biol Ther, 2009 Jul. PMID 19440036

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. cadherin-22 is upregulated in hypoxia via mTORC1-independent translational control by the initiation factor eIF4E2 functioning as a hypoxia-specific cell-surface molecule involved in cancer cell migration, invasion and adhesion.
    Title: Hypoxia activates cadherin-22 synthesis via eIF4E2 to drive cancer cell migration, invasion and adhesion.
  2. Results present evidence that CDH22 is hypermethylated and its expression is downregulated in breast cancer.
    Title: CDH22 hypermethylation is an independent prognostic biomarker in breast cancer.
  3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Analysis of candidate genes on chromosome 20q12-13.1 reveals evidence for BMI mediated association of PREX1 with type 2 diabetes in European Americans.
  4. PRL-3 promoted downregulation of CDH22 expression.
    Title: PRL-3 promotes epithelial mesenchymal transition by regulating cadherin directly.
  5. Our results reveal for the first time a new role of CDH22 in progression of colorectal cancer.
    Title: Over-expression of CDH22 is associated with tumor progression in colorectal cancer.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.
  7. This paper deals primarily with the rat ortholog of the human CDH22 gene.
    Title: Molecular cloning and characterization of a newly identified member of the cadherin family, PB-cadherin.
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
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of cadherin 22, type 2 (CDH22) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC39564

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 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
  

General protein information

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Preferred Names
cadherin-22
Names
PB-cadherin
cadherin 22, type 2
cadherin-like 22
ortholog of rat PB-cadherin
pituitary and brain cadherin

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_021248.3 → NP_067071.1  cadherin-22 precursor

    See identical proteins and their annotated locations for NP_067071.1

    Status: REVIEWED

    Source sequence(s)
    AK289584, BC039056, BQ102264
    Consensus CDS
    CCDS13395.1
    UniProtKB/Swiss-Prot
    B9EGK7, O43205, Q9UJ99
    UniProtKB/TrEMBL
    A8K0L9
    Related
    ENSP00000437790.1, ENST00000537909.4
    Conserved Domains (2) summary
    cd11304
    Location:401 → 495
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:657 → 817
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    46173739..46308498 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451966.2 → XP_024307734.1  cadherin-22 isoform X3

    UniProtKB/TrEMBL
    A8K0L9
    Conserved Domains (3) summary
    cd11304
    Location:280 → 374
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:3 → 45
    CA; Cadherin repeats
    pfam01049
    Location:527 → 698
    Cadherin_C; Cadherin cytoplasmic region

  2. XM_047440373.1 → XP_047296329.1  cadherin-22 isoform X2

  3. XM_011528994.3 → XP_011527296.1  cadherin-22 isoform X1

    See identical proteins and their annotated locations for XP_011527296.1

    UniProtKB/Swiss-Prot
    B9EGK7, O43205, Q9UJ99
    UniProtKB/TrEMBL
    A8K0L9
    Conserved Domains (2) summary
    cd11304
    Location:401 → 495
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:657 → 817
    Cadherin_C; Cadherin cytoplasmic region

  4. XM_024451967.2 → XP_024307735.1  cadherin-22 isoform X4

    Conserved Domains (1) summary
    cd11304
    Location:172 → 253
    Cadherin_repeat; Cadherin tandem repeat domain

  5. XM_047440374.1 → XP_047296330.1  cadherin-22 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    47909792..48044527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323844.1 → XP_054179819.1  cadherin-22 isoform X3

  2. XM_054323843.1 → XP_054179818.1  cadherin-22 isoform X2

  3. XM_054323842.1 → XP_054179817.1  cadherin-22 isoform X1

    UniProtKB/Swiss-Prot
    B9EGK7, O43205, Q9UJ99

  4. XM_054323845.1 → XP_054179820.1  cadherin-22 isoform X4

  5. XM_054323846.1 → XP_054179821.1  cadherin-22 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJ99.2 GenPept UniProtKB/Swiss-Prot:Q9UJ99

Gene LinkOut

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

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