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    CALB2 calbindin 2 [ Homo sapiens (human) ]

    Gene ID: 794, updated on 13-Jun-2016
    Official Symbol
    CALB2provided by HGNC
    Official Full Name
    calbindin 2provided by HGNC
    Primary source
    HGNC:HGNC:1435
    See related
    Ensembl:ENSG00000172137 HPRD:00230; MIM:114051; Vega:OTTHUMG00000137589
    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
    CR; CAL2; CAB29
    Summary
    This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
    Orthologs
    Location:
    16q22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (71358713..71390438)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71392616..71424341)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723786 Neighboring gene cap methyltransferase 2 Neighboring gene uncharacterized LOC102725168 Neighboring gene uncharacterized LOC105371332 Neighboring gene uncharacterized LOC105371333 Neighboring gene transfer RNA-Met (CAT) 2-1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    gap junction IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    calretinin
    Names
    29 kDa calbindin
    calbindin 2, (29kD, calretinin)
    calbindin D29K
    testicular secretory protein Li 8

    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_001740.4NP_001731.2  calretinin isoform 1

      See identical proteins and their annotated locations for NP_001731.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (isoform 1), which has also been designated as the full-length isoform.
      Source sequence(s)
      AK222495, BM664507, DA060805
      Consensus CDS
      CCDS10899.1
      UniProtKB/Swiss-Prot
      P22676
      Related
      ENSP00000307508, OTTHUMP00000174922, ENST00000302628, OTTHUMT00000268988
      Conserved Domains (3) summary
      PTZ00184
      Location:13180
      PTZ00184; calmodulin; Provisional
      cd00051
      Location:111180
      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 ...
      pfam13499
      Location:161220
      EF-hand_7; EF-hand domain pair
    2. NM_007088.3NP_009019.1  calretinin isoform 22k

      See identical proteins and their annotated locations for NP_009019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (CALB2c) lacks an alternate segment in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 22k) has a shorter and distinct C-terminus, compared to isoform 1. There are no publicly available transcripts supporting this variant; it is represented based on data in PMID:7607211.
      Source sequence(s)
      AK222495, BM664507, DA060805
      UniProtKB/Swiss-Prot
      P22676
      UniProtKB/TrEMBL
      A6NER6
      Related
      ENSP00000340294, ENST00000349553
      Conserved Domains (2) summary
      PTZ00184
      Location:13179
      PTZ00184; calmodulin; Provisional
      cd00051
      Location:111179
      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 ...

    RNA

    1. NR_027910.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (CALB2b) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This variant was described by Schwaller et al (PMID: 7607211), and proposed to encode a 20kDa isoform, but this protein has not been shown to be expressed in vivo.
      Source sequence(s)
      AK222495, BM664507, DA060805

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      71358713..71390438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_013171813.1 Reference GRCh38.p7 PATCHES

      Range
      226190..257935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      72805453..72837193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_007087.2: Suppressed sequence

      Description
      NM_007087.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.