U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    CABP2 calcium binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 51475, updated on 10-Dec-2024

    Summary

    Official Symbol
    CABP2provided by HGNC
    Official Full Name
    calcium binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:1385
    See related
    Ensembl:ENSG00000167791 MIM:607314; AllianceGenome:HGNC:1385
    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
    DFNB93
    Summary
    This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CABP2 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67518912..67523446, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67513590..67518124, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67286383..67290917, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein membrane associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67270543-67271292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67271293-67272042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3644 Neighboring gene cyclin dependent kinase 2 associated protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67297117-67297895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67297896-67298673 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:67330455-67331654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5109 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67351053-67351195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5110 Neighboring gene MPRA-validated peak1312 silencer Neighboring gene glutathione S-transferase pi 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5112 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67370959-67371644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67372331-67373016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5113 Neighboring gene NDUFV1 divergent transcript

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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.

    Genomic

    1. NG_032982.1 RefSeqGene

      Range
      4983..9517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318496.2NP_001305425.1  calcium-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).
      Source sequence(s)
      AF169154, AP001184, BC018476
      UniProtKB/TrEMBL
      F1T0K2
      Conserved Domains (4) summary
      COG5126
      Location:78226
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:162225
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13405
      Location:88117
      EF-hand_6; EF-hand domain
      pfam13833
      Location:133188
      EF-hand_8; EF-hand domain pair
    2. NM_016366.3NP_057450.2  calcium-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_057450.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript Variant: This variant (1) uses an alternate splice junction in a coding exon compared to variant 3. The resulting isoform (1) has a shorter and distinct N-terminus compared to isoform 3.
      Source sequence(s)
      AF169154, AP001184, BC018476
      Consensus CDS
      CCDS8170.1
      UniProtKB/Swiss-Prot
      Q9NPB3
      Related
      ENSP00000294288.4, ENST00000294288.5
      Conserved Domains (2) summary
      COG5126
      Location:62220
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:156219
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67518912..67523446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67513590..67518124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031204.2: Suppressed sequence

      Description
      NM_031204.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.