Format

Send to:

Choose Destination

CALB2 calbindin 2 [ Homo sapiens (human) ]

Gene ID: 794, updated on 11-Jul-2021

Summary

Official Symbol
CALB2provided by HGNC
Official Full Name
calbindin 2provided by HGNC
Primary source
HGNC:HGNC:1435
See related
Ensembl:ENSG00000172137 MIM:114051
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]
Expression
Biased expression in fat (RPKM 72.8), testis (RPKM 20.4) and 4 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CALB2 in Genome Data Viewer
Location:
16q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (71358723..71390438)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71392626..71424336)

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 long intergenic non-protein coding RNA 2136 Neighboring gene tRNA-Met (anticodon CAT) 2-1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of presynaptic cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cuticular plate IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in gap junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
located_in stereocilium IEA
Inferred from Electronic Annotation
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
calretinin
Names
29 kDa calbindin
calbindin 2, (29kD, calretinin)
calbindin D29K
testicular secretory protein Li 8

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001740.5NP_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
    Consensus CDS
    CCDS10899.1
    UniProtKB/Swiss-Prot
    P22676
    UniProtKB/TrEMBL
    A0A140VK08
    Related
    ENSP00000307508.4, ENST00000302628.9
    Conserved Domains (2) summary
    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:113180
    EF-hand_7; EF-hand domain pair
  2. NM_007088.4NP_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
    UniProtKB/Swiss-Prot
    P22676
    UniProtKB/TrEMBL
    A6NER6
    Related
    ENSP00000340294.5, ENST00000349553.9
    Conserved Domains (2) summary
    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 ...
    pfam13499
    Location:113176
    EF-hand_7; EF-hand domain pair

RNA

  1. NR_027910.3 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    71358723..71390438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002957842.1 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_013171813.1 Reference GRCh38.p13 PATCHES

    Range
    226200..257930
    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.
Support Center