CDH22 cadherin 22 [Homo sapiens (human)] - Gene

Summary

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

Location:: 20q13.12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (46173739..46308498, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47909792..48044527, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44802378..44937137, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
PRL-3 promoted downregulation of CDH22 expression.
Title: PRL-3 promotes epithelial mesenchymal transition by regulating cadherin directly.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

SHGC-31223 (e-PCR)
- UniSTS:73796

WI-21844 (e-PCR)
- UniSTS:13428

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
enables calcium ion binding	IEA Inferred from Electronic Annotation 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

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

46173739..46308498 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K0L9
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
XM_024451967.2 → XP_024307735.1 cadherin-22 isoform X4

Conserved Domains (1) summary

cd11304
Location:172 → 253

Cadherin_repeat; Cadherin tandem repeat domain
XM_047440374.1 → XP_047296330.1 cadherin-22 isoform X5