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

Gene ID: 51475, updated on 13-Feb-2019

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
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

Genomic context

See CABP2 in Genome Data Viewer
Location:
11q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (67518947..67523428, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67286418..67291085, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein membrane associated 1 Neighboring gene cyclin dependent kinase 2 associated protein 2 Neighboring gene glutathione S-transferase pi 1 Neighboring gene chromosome 11 open reading frame 72 (putative)

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
visual perception ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    5001..9482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318496.1NP_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, BC018476
    UniProtKB/Swiss-Prot
    Q9NPB3
    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_016366.2NP_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, BC018476
    Consensus CDS
    CCDS8170.1
    UniProtKB/Swiss-Prot
    Q9NPB3
    Related
    ENSP00000294288.4, ENST00000294288.4
    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: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    67518947..67523428 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.
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