Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3208
Gene name Gene Name - the full gene name approved by the HGNC.	Hippocalcin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HPCA
Synonyms (NCBI Gene) Gene synonyms aliases	BDR2, DYT2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p35.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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

Show/Hide all(28)

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

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	11964161
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	28398555
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	8387172
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005737	Component	Cytoplasm	IDA	28398555
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019900	Function	Kinase binding	IEA
GO:0030424	Component	Axon	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:0046872	Function	Metal ion binding	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:0098794	Component	Postsynapse	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:1904010	Process	Response to Aroclor 1254	IEA
GO:1905232	Process	Cellular response to L-glutamate	IEA

MIM	HGNC	e!Ensembl
142622	5144	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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dystonia	Torsion dystonia 2	rs786205675, rs775863165	N/A

HPCA (hippocalcin)