• Gene id: 3208

Gene Summary

• Gene Symbol: HPCA   Gene   UCSC   Ensembl
• Aliases: BDR2, DYT2
• Gene name: hippocalcin
• Alternate names: neuron-specific calcium-binding protein hippocalcin, calcium-binding protein BDR-2, dystonia 2, torsion (autosomal recessive),
• Gene location: 1p35.1 (32885964: 32894645)     Exons: 6     NC_000001.11
• Gene summary(Entrez): 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 reg
• OMIM: 142622

Protein Summary

• Protein general information: P84074  
  • Name: Neuron specific calcium binding protein hippocalcin (Calcium binding protein BDR 2)
  • Length: 193  
  • Mass: 22427
  • Tissue specificity: Brain specific. {ECO
• Sequence:

  MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTN
  SDGTIDFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTE
  KIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF

• Structural information:
  • Protein Domains: (24..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (60..9-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (96..13-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028846  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 5G4P 5G58 5M6C
  • PDBsum: 5G4P 5G58 5M6C
  • STRING: ENSP00000362566
• Other Databases: GeneCards:  HPCA  Malacards:  HPCA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0071277	cellular response to calcium ion	IMP	biological process
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:1901385	regulation of voltage-gated calcium channel activity	IMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904009	cellular response to monosodium glutamate	IEA	biological process
GO:1902065	response to L-glutamate	IEA	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0031283	negative regulation of guanylate cyclase activity	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0048839	inner ear development	IEA	biological process
GO:1904010	response to Aroclor 1254	IEA	biological process
GO:1901986	response to ketamine	IEA	biological process
GO:0090314	positive regulation of protein targeting to membrane	IEA	biological process
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0044327	dendritic spine head	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0032590	dendrite membrane	IEA	cellular component
GO:0031584	activation of phospholipase D activity	IEA	biological process
GO:0019900	kinase binding	IEA	molecular function
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0010518	positive regulation of phospholipase activity	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0005509	calcium ion binding	NAS	molecular function

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
colorectal adenocarcinoma	PMID:22696308
Huntington's disease	PMID:19686238
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881