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HPCA hippocalcin [ Homo sapiens (human) ]

Gene ID: 3208, updated on 5-Aug-2022

Summary

Official Symbol
HPCAprovided by HGNC
Official Full Name
hippocalcinprovided by HGNC
Primary source
HGNC:HGNC:5144
See related
Ensembl:ENSG00000121905 MIM:142622; AllianceGenome:HGNC:5144
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
BDR2; DYT2
Summary
The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward brain (RPKM 57.7) See more
Orthologs
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Genomic context

See HPCA in Genome Data Viewer
Location:
1p35.1
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32885996..32894646)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32746286..32754441)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33352092..33360247)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III domain containing 5 Neighboring gene uncharacterized LOC105378631 Neighboring gene uncharacterized LOC105378632 Neighboring gene transmembrane protein 54 Neighboring gene Sharpr-MPRA regulatory region 2329 Neighboring gene ring finger protein 19B

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 actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
enables identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables kinase 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 activation of phospholipase D activity IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to monosodium glutamate IEA
Inferred from Electronic Annotation
more info
 
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of guanylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of adenylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein targeting to membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to Aroclor 1254 IEA
Inferred from Electronic Annotation
more info
 
involved_in response to L-glutamate IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ketamine IEA
Inferred from Electronic Annotation
more info
 
involved_in retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite membrane IEA
Inferred from Electronic Annotation
more info
 
located_in dendritic spine head IEA
Inferred from Electronic Annotation
more info
 
located_in extrinsic component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neuron-specific calcium-binding protein hippocalcin
Names
calcium-binding protein BDR-2
dystonia 2, torsion (autosomal recessive)

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_042176.1 RefSeqGene

    Range
    5405..13560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002143.3NP_002134.2  neuron-specific calcium-binding protein hippocalcin

    See identical proteins and their annotated locations for NP_002134.2

    Status: REVIEWED

    Source sequence(s)
    AC114493, BC001777
    Consensus CDS
    CCDS370.1
    UniProtKB/Swiss-Prot
    P70510, P84074
    Related
    ENSP00000362566.3, ENST00000373467.4
    Conserved Domains (1) summary
    COG5126
    Location:13179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    32885996..32894646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270792.4XP_005270849.1  neuron-specific calcium-binding protein hippocalcin isoform X1

    See identical proteins and their annotated locations for XP_005270849.1

    UniProtKB/Swiss-Prot
    P70510, P84074
    Conserved Domains (1) summary
    COG5126
    Location:13179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. XM_017001118.3XP_016856607.1  neuron-specific calcium-binding protein hippocalcin isoform X1

    UniProtKB/Swiss-Prot
    P70510, P84074
    Conserved Domains (1) summary
    COG5126
    Location:13179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    32746286..32754441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)