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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
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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

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