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... See more...

Aliases for CDH22 Gene

Aliases for CDH22 Gene

  • Cadherin 22 2 3 5
  • Pituitary And Brain Cadherin 3 4
  • Cadherin 22, Type 2 2 3
  • Cadherin-Like 22 2 3
  • Cadherin-22 3 4
  • PB-Cadherin 3 4
  • DJ998H6.1 2 3
  • C20orf25 3 4
  • Ortholog Of Rat PB-Cadherin 3
  • CDH22 5

External Ids for CDH22 Gene

Previous HGNC Symbols for CDH22 Gene

  • C20orf25

Previous GeneCards Identifiers for CDH22 Gene

  • GC20M044530
  • GC20M045440
  • GC20M045487
  • GC20M044235
  • GC20M044802
  • GC20M041543

Summaries for CDH22 Gene

Entrez Gene Summary for CDH22 Gene

  • 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]

GeneCards Summary for CDH22 Gene

CDH22 (Cadherin 22) is a Protein Coding gene. Diseases associated with CDH22 include Kbg Syndrome. Among its related pathways are ERK Signaling and S-1P Stimulated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH7.

UniProtKB/Swiss-Prot Summary for CDH22 Gene

  • Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity).

Additional gene information for CDH22 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH22 Gene

Genomics for CDH22 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDH22 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J046306 Enhancer 1.1 FANTOM5 ENCODE 605.8 +1.4 1409 0.5 GATAD2A CTCF NFKBIZ ZNF143 ZIC2 PATZ1 REST RAD21 IRF2 TRIM22 CDH22 SLC12A5 ZNF334 piR-61945-309 CD40
GH20J046307 Promoter 1 Ensembl 600.7 +0.4 397 1.4 GATAD2A CTCF PRDM10 NFKBIZ ZNF143 ZIC2 POLR2A PATZ1 IRF2 TRIM22 CDH22 piR-61945-309 CD40
GH20J046348 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 -41.6 -41629 4.7 HNRNPL CTCF ZBTB33 RFX1 IKZF1 POLR2A JUND ZNF143 ZIC2 PKNOX1 NCOA5 ZNF335 SLC35C2 TP53RK ELMO2 ZSWIM1 SPATA25 CDH22 lnc-ELMO2-2 lnc-SLC35C2-1
GH20J046313 Enhancer 1 Ensembl ENCODE 5.8 -3.9 -3909 1.6 CTCF ZNF512 IKZF1 KDM1A TARDBP PRDM1 ZIC2 ZSCAN4 PATZ1 ZNF24 PCIF1 CD40 NCOA5 ZNF335 SYS1 CDH22 lnc-SLC35C2-1 SLC35C2
GH20J046430 Enhancer 0.7 FANTOM5 Ensembl 4.9 -122.7 -122683 0.8 ZSCAN4 MNT NFATC1 EZH2 CEBPB ELMO2 SLC12A5 CDH22 ZNF663P ZNF334 LOC105372633 SLC35C2 ENSG00000283757
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH22 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH22

Top Transcription factor binding sites by QIAGEN in the CDH22 gene promoter:
  • GR
  • GR-beta
  • HSF1 (long)
  • HSF1short
  • Olf-1
  • p53
  • Pax-5
  • TBP
  • TFIID
  • YY1

Genomic Locations for CDH22 Gene

Genomic Locations for CDH22 Gene
chr20:46,173,733-46,308,498
(GRCh38/hg38)
Size:
134,766 bases
Orientation:
Minus strand
chr20:44,802,372-44,937,137
(GRCh37/hg19)
Size:
134,766 bases
Orientation:
Minus strand

Genomic View for CDH22 Gene

Genes around CDH22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH22 Gene

Proteins for CDH22 Gene

  • Protein details for CDH22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ99-CAD22_HUMAN
    Recommended name:
    Cadherin-22
    Protein Accession:
    Q9UJ99
    Secondary Accessions:
    • B9EGK7
    • O43205

    Protein attributes for CDH22 Gene

    Size:
    828 amino acids
    Molecular mass:
    89091 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDH22 Gene

Post-translational modifications for CDH22 Gene

  • Glycosylation at Asn162, Asn466, and Asn612
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH22 Gene

Antibody Products

No data available for DME Specific Peptides for CDH22 Gene

Domains & Families for CDH22 Gene

Gene Families for CDH22 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CDH22 Gene

InterPro:
Blocks:
  • Cadherin cytoplasmic region
  • Cadherin
ProtoNet:

Suggested Antigen Peptide Sequences for CDH22 Gene

GenScript: Design optimal peptide antigens:
  • Pituitary and brain cadherin (CAD22_HUMAN)
  • CDH22 protein (Q49AS4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJ99

UniProtKB/Swiss-Prot:

CAD22_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with CDH22: view

Function for CDH22 Gene

Molecular function for CDH22 Gene

UniProtKB/Swiss-Prot Function:
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity).

Phenotypes From GWAS Catalog for CDH22 Gene

Gene Ontology (GO) - Molecular Function for CDH22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0045296 cadherin binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CDH22: view
genes like me logo Genes that share phenotypes with CDH22: view

Animal Models for CDH22 Gene

MGI Knock Outs for CDH22:

Animal Model Products

  • Taconic Biosciences Mouse Models for CDH22

CRISPR Products

miRNA for CDH22 Gene

miRTarBase miRNAs that target CDH22

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH22

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDH22 Gene

Localization for CDH22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH22 Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH22 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CDH22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005912 adherens junction IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016342 catenin complex IBA 21873635
genes like me logo Genes that share ontologies with CDH22: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDH22 Gene

Pathways & Interactions for CDH22 Gene

PathCards logo

SuperPathways for CDH22 Gene

SuperPathway Contained pathways
1 G12-G13 in Cellular Signaling
-
2 Nanog in Mammalian ESC Pluripotency
.62
3 ERK Signaling
.49
4 S-1P Stimulated Signaling
-
5 WNT Signaling
-
genes like me logo Genes that share pathways with CDH22: view

Pathways by source for CDH22 Gene

5 Qiagen pathways for CDH22 Gene
  • G12-G13 in Cellular Signaling
  • GSK3 Signaling
  • ILK Signaling
  • S-1P Stimulated Signaling
  • WNT Signaling

Gene Ontology (GO) - Biological Process for CDH22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0007043 cell-cell junction assembly IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with CDH22: view

No data available for SIGNOR curated interactions for CDH22 Gene

Drugs & Compounds for CDH22 Gene

(1) Drugs for CDH22 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with CDH22: view

Transcripts for CDH22 Gene

mRNA/cDNA for CDH22 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH22

Alternative Splicing Database (ASD) splice patterns (SP) for CDH22 Gene

No ASD Table

Relevant External Links for CDH22 Gene

GeneLoc Exon Structure for
CDH22

Expression for CDH22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH22 Gene

This gene is overexpressed in Brain - Cerebellum (x11.2), Brain - Cerebellar Hemisphere (x10.5), Brain - Cortex (x5.6), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for CDH22 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDH22 Gene



Protein tissue co-expression partners for CDH22 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH22

SOURCE GeneReport for Unigene cluster for CDH22 Gene:

Hs.472861

Evidence on tissue expression from TISSUES for CDH22 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with CDH22: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH22 Gene

Orthologs for CDH22 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH22 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDH22 30 31
  • 99.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDH22 30 31
  • 92.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDH22 30 31
  • 91.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CDH22 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdh22 30 17 31
  • 88.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdh22 30
  • 87.88 (n)
Chicken
(Gallus gallus)
Aves CDH22 30 31
  • 77.73 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdh22 30
  • 67.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01034923.1 31
  • 69 (a)
OneToOne
Species where no ortholog for CDH22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDH22 Gene

ENSEMBL:
Gene Tree for CDH22 (if available)
TreeFam:
Gene Tree for CDH22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDH22: view image

Paralogs for CDH22 Gene

(29) SIMAP similar genes for CDH22 Gene using alignment to 2 proteins:

  • CAD22_HUMAN
  • Q49AS4_HUMAN
genes like me logo Genes that share paralogs with CDH22: view

Variants for CDH22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH22 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
773919 Benign: not provided 46,177,989(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CDH22 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDH22 Gene

Variant ID Type Subtype PubMed ID
dgv2434e59 CNV duplication 20981092
esv27173 CNV loss 19812545
esv2758796 CNV loss 17122850
esv3446151 CNV duplication 20981092
esv3645950 CNV loss 21293372
esv3645951 CNV loss 21293372
esv3645952 CNV gain 21293372
nsv1057686 CNV loss 25217958
nsv3394 CNV insertion 18451855
nsv471878 CNV novel sequence insertion 20440878
nsv833993 CNV gain 17160897
nsv9810 CNV gain 18304495

Variation tolerance for CDH22 Gene

Residual Variation Intolerance Score: 16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.64; 65.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH22 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH22

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH22 Gene

Disorders for CDH22 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CDH22 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kbg syndrome
  • kbgs
- elite association - COSMIC cancer census association via MalaCards
Search CDH22 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDH22

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CDH22: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH22 Gene

Publications for CDH22 Gene

  1. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 23 41
  2. Analysis of candidate genes on chromosome 20q12-13.1 reveals evidence for BMI mediated association of PREX1 with type 2 diabetes in European Americans. (PMID: 20650312) Lewis JP … Bowden DW (Genomics 2010) 3 41
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. Molecular cloning and characterization of a newly identified member of the cadherin family, PB-cadherin. (PMID: 8626716) Sugimoto K … Nakamura T (The Journal of biological chemistry 1996) 2 3
  5. Hypoxia activates cadherin-22 synthesis via eIF4E2 to drive cancer cell migration, invasion and adhesion. (PMID: 28991229) Kelly NJ … Uniacke J (Oncogene 2018) 3

Products for CDH22 Gene

Sources for CDH22 Gene