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    CHP2 calcineurin like EF-hand protein 2 [ Homo sapiens (human) ]

    Gene ID: 63928, updated on 10-Dec-2024

    Summary

    Official Symbol
    CHP2provided by HGNC
    Official Full Name
    calcineurin like EF-hand protein 2provided by HGNC
    Primary source
    HGNC:HGNC:24927
    See related
    Ensembl:ENSG00000166869 AllianceGenome:HGNC:24927
    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
    Summary
    This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in duodenum (RPKM 110.6), small intestine (RPKM 92.6) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CHP2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23755026..23758935)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (24028856..24032766)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23766347..23770256)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23653060-23653849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23698309-23698810 Neighboring gene dynactin subunit 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23716303-23716803 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23740522-23741453 Neighboring gene polo like kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23766235-23766880 Neighboring gene endoplasmic reticulum to nucleus signaling 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:23797941-23798576 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:23798577-23799212 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1865 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1866 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23846913-23847460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23847461-23848006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10590 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23858657-23858875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10591 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:23877081-23877727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10592 Neighboring gene protein kinase C beta Neighboring gene GATA motif-containing MPRA enhancer 73 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23915426-23915611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10598 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:24066265-24066934 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:24086836-24087648 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:24087649-24088461 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:24119013-24119512 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:24146937-24147472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:24148009-24148544 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:24148545-24149080 Neighboring gene Sharpr-MPRA regulatory region 8464 Neighboring gene NANOG hESC enhancer GRCh37_chr16:24219906-24220465 Neighboring gene microRNA 1273h Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:24257631-24258830 Neighboring gene long intergenic non-protein coding RNA 2194

    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
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    calcineurin B homologous protein 2
    Names
    hepatocellular carcinoma antigen gene 520
    hepatocellular carcinoma-associated antigen 520

    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_022097.4NP_071380.1  calcineurin B homologous protein 2

      See identical proteins and their annotated locations for NP_071380.1

      Status: REVIEWED

      Source sequence(s)
      AF146019, BF197519
      Consensus CDS
      CCDS10617.1
      UniProtKB/Swiss-Prot
      A8K2I8, O43745
      Related
      ENSP00000300113.2, ENST00000300113.3
      Conserved Domains (1) summary
      COG5126
      Location:16179
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      23755026..23758935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      24028856..24032766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)