HPCA - hippocalcin Gene

Homo sapiens

Also known as BDR2; DYT2

Gene ID: 3208 | Gene type: protein coding

About HPCA

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:32,885,996-32,894,646 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 2 phenotypes. Restricted expression toward brain (RPKM 57.7).

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]

HPCA Products(1)

mRNA	Protein	Name
NM_002143.3	NP_002134.2	neuron-specific calcium-binding protein hippocalcin

HPCA Protein Structure

EF-hand_1

EF-hand_7

0
100
193 a.a.

Protein Preferred Names

Protein Names

neuron-specific calcium-binding protein hippocalcin

calcium-binding protein BDR-2

Related Diseases

Diseases

Alias

Dystonia 2, Torsion, Autosomal Recessive

DYT2	Dystonia Musculorum Deformans 2
Torsion Dystonia 2	Dystonia Musculorum Deformans Type 2
Torsion Dystonia 2, Autosomal Recessive Type	Primary Dystonia, Dyt2 Type
Dystonia, Type 2, Torsion, Autosomal Recessive

Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Dystonia 25

DYT25	Dystonia-25
Dystonia, Type 25

Torsion Dystonia 4

Dystonia 6, Torsion

DYT6	Torsion Dystonia 6
Dystonia 6	Idiopathic Torsion Dystonia Of Mixed Type
Primary Dystonia, Dyt6 Type	Torsion Dystonia, Adult-Onset, Mixed Type
Dyt-Thap1	Adolescent-Onset Dystonia Of Mixed Type
Torsion Dystonia Adult Onset Mixed Type	Dyt6 Dystonia
Thap1 Dystonia	Generalized Cervical And Upper-Limb-Onset Dystonia
Adult-Onset Torsion Dystonia Mixed Type	Autosomal Dominant Torsion Dystonia 6
Dystonia-6	Torsion Dystonia Type 6
Dystonia, Type 6, Torsion

Dystonia 27

DYT27	Primary Dystonia, Dyt27 Type
Dystonia, Type 27

Spastic Monoplegia

Monoplegic Infantile Cerebral Palsy	Spastic Monoplegic Cerebral Palsy
Infantile Monoplegic Cerebral Palsy	Cerebral Palsy Spastic Monoplegic
Spastic Monoplegia Cerebral Palsy

Dystonia 24

DYT24	Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Dystonia-24	Dystonia, Type 24

Dystonia 1, Torsion, Autosomal Dominant

Dystonia Musculorum Deformans 1	Dystonia Musculorum Deformans
DYT1	Early-Onset Torsion Dystonia
Eotd	Dystonia-1, Torsion
Torsion Dystonia 1	Autosomal Dominant Torsion Dystonia 1
Dystonia-1	Oppenheim'S Dystonia
Oppenheim-Ziehen Disease	Early Onset Torsion Dystonia
Dystonia 3, Torsion, X-Linked

Segmental Dystonia

Multifocal Dystonia

Ascending Cholangitis

Spasmodic Dystonia

Laryngeal Dystonia

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Leukodystrophy, Hypomyelinating, 6

Habc	Hypomyelinating Leukodystrophy 6
HLD6	H-Abc
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum	HLD
Leukodystrophy, Hypomyelinating, Type 6

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06333	HPCA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HPCA	RGD	RGD:620060
Mus musculus	HPCA	MGD	MGI:1336200
Macaca mulatta	HPCA	VGNC	VGNC:73509
Felis catus	HPCA	VGNC	VGNC:67635
Bos taurus	HPCA	VGNC	VGNC:29936
Canis familiaris	HPCA	VGNC	VGNC:52136
Others	HPCA	NCBI

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