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

    Gene ID: 51475, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Bharadwaj T, et al. Mol Genet Genomic Med, 2022 Mar. PMID 35150090, Free PMC Article
    2. A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Schrauwen I, et al. Am J Hum Genet, 2012 Oct 5. PMID 22981119, Free PMC Article
    3. DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment. Tabatabaiefar MA, et al. Clin Genet, 2011 Jun. PMID 21542834
    4. Functional roles and efficiencies of the thioredoxin boxes of calcium-binding proteins 1 and 2 in protein folding. Kramer B, et al. Biochem J, 2001 Jul 1. PMID 11415439, Free PMC Article
    5. Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). Sokal I, et al. Biochim Biophys Acta, 2000 Dec 20. PMID 11108966

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
      Title: Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
    2. Genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment.
      Title: A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
    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

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 93
    MedGen: C3888355 OMIM: 614899 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 

    General protein information

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    Preferred Names
    calcium-binding protein 2

    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.

    Genomic

    1. NG_032982.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001318496.2 → NP_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:78 → 226
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:162 → 225
      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:88 → 117
      EF-hand_6; EF-hand domain
      pfam13833
      Location:133 → 188
      EF-hand_8; EF-hand domain pair

    2. NM_016366.3 → NP_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:62 → 220
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:156 → 219
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPB3.4 GenPept UniProtKB/Swiss-Prot:Q9NPB3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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