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CALB2 calbindin 2 [ Homo sapiens (human) ]

Gene ID: 794, updated on 17-May-2015
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
See CALB2 in MapViewer
Location:
16q22.2
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cytosolic calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
gap junction IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
calretinin
Names
calretinin
29 kDa calbindin
calbindin 2, (29kD, calretinin)
calbindin D29K

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/TrEMBL
    A6NER6
    UniProtKB/Swiss-Prot
    P22676
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011523320.1XP_011521622.1  

    See identical proteins and their annotated locations for XP_011521622.1

    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 ...
    cl08302
    Location:159209
    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 ...

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.