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    CDH22 cadherin 22 [ Homo sapiens (human) ]

    Gene ID: 64405, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDH22 in Genome Data Viewer
    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_000020.11Genomic 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

    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

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_021248.3NP_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:401495
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:657817
      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

    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_024451966.2XP_024307734.1  cadherin-22 isoform X3

      UniProtKB/TrEMBL
      A8K0L9
      Conserved Domains (3) summary
      cd11304
      Location:280374
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:345
      CA; Cadherin repeats
      pfam01049
      Location:527698
      Cadherin_C; Cadherin cytoplasmic region
    2. XM_047440373.1XP_047296329.1  cadherin-22 isoform X2

      UniProtKB/TrEMBL
      A8K0L9
    3. XM_011528994.3XP_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:401495
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:657817
      Cadherin_C; Cadherin cytoplasmic region
    4. XM_024451967.2XP_024307735.1  cadherin-22 isoform X4

      Conserved Domains (1) summary
      cd11304
      Location:172253
      Cadherin_repeat; Cadherin tandem repeat domain
    5. XM_047440374.1XP_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_054323844.1XP_054179819.1  cadherin-22 isoform X3

      UniProtKB/TrEMBL
      A8K0L9
    2. XM_054323843.1XP_054179818.1  cadherin-22 isoform X2

      UniProtKB/TrEMBL
      A8K0L9
    3. XM_054323842.1XP_054179817.1  cadherin-22 isoform X1

      UniProtKB/Swiss-Prot
      B9EGK7, O43205, Q9UJ99
      UniProtKB/TrEMBL
      A8K0L9
    4. XM_054323845.1XP_054179820.1  cadherin-22 isoform X4

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