HPCA (hippocalcin)

Gene

• Entrez ID: 3208
• Gene name: Hippocalcin
• Gene symbol: HPCA
• Synonyms (NCBI Gene): BDR2, DYT2
• Disease Acronyms (UniProt): DYT2
• Chromosome: 1
• Chromosome location: 1p35.1
• 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 reg

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs550921485	G>A	Pathogenic	Missense variant, coding sequence variant
rs775863165	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs786205675	C>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736027	hsa-miR-24-3p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	31486848
MIRT1053972	hsa-miR-1321	CLIP-seq
MIRT1053973	hsa-miR-24	CLIP-seq
MIRT1053974	hsa-miR-3144-5p	CLIP-seq
MIRT1053975	hsa-miR-3157-5p	CLIP-seq
MIRT1053976	hsa-miR-3179	CLIP-seq
MIRT1053977	hsa-miR-3202	CLIP-seq
MIRT1053978	hsa-miR-4283	CLIP-seq
MIRT1053979	hsa-miR-4419a	CLIP-seq
MIRT1053980	hsa-miR-4437	CLIP-seq
MIRT1053981	hsa-miR-4476	CLIP-seq
MIRT1053982	hsa-miR-4510	CLIP-seq
MIRT1053983	hsa-miR-4691-3p	CLIP-seq
MIRT1053984	hsa-miR-4716-3p	CLIP-seq
MIRT1053985	hsa-miR-4728-5p	CLIP-seq
MIRT1053986	hsa-miR-4739	CLIP-seq
MIRT1053987	hsa-miR-4756-5p	CLIP-seq
MIRT2012248	hsa-miR-1909	CLIP-seq
MIRT2244632	hsa-miR-1260	CLIP-seq
MIRT2244633	hsa-miR-1260b	CLIP-seq
MIRT2244634	hsa-miR-188-3p	CLIP-seq
MIRT2244635	hsa-miR-3156-3p	CLIP-seq
MIRT1053978	hsa-miR-4283	CLIP-seq
MIRT1053984	hsa-miR-4716-3p	CLIP-seq
MIRT2389150	hsa-miR-1275	CLIP-seq
MIRT2389151	hsa-miR-4665-5p	CLIP-seq
MIRT2451358	hsa-miR-637	CLIP-seq
MIRT2451359	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	11964161
GO:0005509	Function	Calcium ion binding	IDA	28398555
GO:0005509	Function	Calcium ion binding	NAS	8387172
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	28398555
GO:0005829	Component	Cytosol	ISS
GO:0007420	Process	Brain development	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019898	Component	Extrinsic component of membrane	ISS
GO:0019900	Function	Kinase binding	IEA
GO:0030424	Component	Axon	IEA
GO:0031283	Process	Negative regulation of guanylate cyclase activity	IEA
GO:0031584	Process	Activation of phospholipase D activity	IEA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0042802	Function	Identical protein binding	IDA	28398555
GO:0043204	Component	Perikaryon	IEA
GO:0044327	Component	Dendritic spine head	IEA
GO:0045762	Process	Positive regulation of adenylate cyclase activity	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0071277	Process	Cellular response to calcium ion	IMP	28398555
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA
GO:1901385	Process	Regulation of voltage-gated calcium channel activity	IMP	28398555
GO:1901986	Process	Response to ketamine	IEA
GO:1902065	Process	Response to L-glutamate	IEA
GO:1904009	Process	Cellular response to monosodium glutamate	IEA
GO:1904010	Process	Response to Aroclor 1254	IEA

Other IDs

• MIM: 142622
• HGNC: 5144
• e!Ensembl: ENSG00000121905

Protein

• UniProt ID: P84074
• Protein name: Neuron-specific calcium-binding protein hippocalcin (Calcium-binding protein BDR-2)
• Protein function: Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By s
• PDB: 5G4P, 5G58, 5M6C, 7OWM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13833	EF-hand_8	39 → 90	EF-hand domain pair	Domain
  PF13499	EF-hand_7	98 → 174	EF-hand domain pair	Domain
  PF00036	EF-hand_1	148 → 176	EF hand	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain specific. {ECO:0000269|PubMed:8166736}.
• Sequence:

  MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGD
  ASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREE
  MLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNNDGKLSLEEFIRGAKSDPSIV
  RLLQCDPSSASQF

• Sequence length: 193

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Dystonia	Dystonia Musculorum Deformans, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder), Primary dystonia, DYT2 type	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854	25799108, 28398555, 30145809