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HPCA Gene(Protein Coding)

Hippocalcin

GCID:
GC01P032885
GIFtS:
58
Genes Participants
UDN Logo

Aliases for HPCA Gene

Aliases for HPCA Gene

  • Hippocalcin 2 3 5
  • Calcium-Binding Protein BDR-2 3 4
  • BDR2 3 4
  • Neuron-Specific Calcium-Binding Protein Hippocalcin 3
  • DYT2 3

External Ids for HPCA Gene

Previous GeneCards Identifiers for HPCA Gene

  • GC01P033171
  • GC01P032307
  • GC01P032778
  • GC01P032854
  • GC01P033021
  • GC01P033124
  • GC01P033351
  • GC01P031469

Summaries for HPCA Gene

Entrez Gene Summary for HPCA 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 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]

GeneCards Summary for HPCA Gene

HPCA (Hippocalcin) is a Protein Coding gene. Diseases associated with HPCA include Dystonia 2, Torsion, Autosomal Recessive and Dystonia 2. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is HPCAL1.

UniProtKB/Swiss-Prot for HPCA Gene

  • May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds two calcium ions.

Gene Wiki entry for HPCA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPCA Gene

Genomics for HPCA Gene

Products:

  1. Regulatory Element

Regulatory Elements for HPCA Gene

Enhancers for HPCA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G033180 1.6 FANTOM5 ENCODE dbSUPER 1.4 +295.8 295798 3.1 HDGF ZNF133 ARID4B SIN3A ZNF2 ZNF121 GLIS2 ZNF143 ZNF263 SP3 TRIM62 PHC2 HPCA GC01M033168
GH01G032883 1.2 dbSUPER 0.7 -0.5 -460 4.7 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 FNDC5 TSSK3 HDAC1 S100PBP HPCA LOC105378631
GH01G032880 1 dbSUPER 0.7 -4.2 -4162 2.7 HDGF FOXA2 ATF1 SIN3A ARID4B DMAP1 YY1 ZNF121 SLC30A9 FOS KIAA1522 AZIN2 AK2 S100PBP HPCA LOC105378631
GH01G032876 1.3 ENCODE dbSUPER 0.4 -9.2 -9160 0.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KIAA1522 AZIN2 AK2 LOC105378631 HPCA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HPCA on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HPCA gene promoter:

Genomic Location for HPCA Gene

Chromosome:
1
Start:
32,885,994 bp from pter
End:
32,898,441 bp from pter
Size:
12,448 bases
Orientation:
Plus strand

Genomic View for HPCA Gene

Genes around HPCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPCA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HPCA Gene

Proteins for HPCA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HPCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P84074-HPCA_HUMAN
    Recommended name:
    Neuron-specific calcium-binding protein hippocalcin
    Protein Accession:
    P84074
    Secondary Accessions:
    • B2R9T3
    • D3DPQ7
    • P32076
    • P41211
    • P70510

    Protein attributes for HPCA Gene

    Size:
    193 amino acids
    Molecular mass:
    22427 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HPCA Gene

Protein Expression for HPCA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HPCA Gene

  • Myristoylation facilitates interaction with membranes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HPCA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HPCA Gene

Domains & Families for HPCA Gene

Gene Families for HPCA Gene

HGNC:

Protein Domains for HPCA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HPCA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P84074

UniProtKB/Swiss-Prot:

HPCA_HUMAN :
  • Belongs to the recoverin family.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with HPCA: view

Function for HPCA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HPCA Gene

GENATLAS Biochemistry:
hippocalcin,23kDa,calcium binding protein expressed in hippocampus
UniProtKB/Swiss-Prot Function:
May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds two calcium ions.

Gene Ontology (GO) - Molecular Function for HPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 11964161
GO:0005509 calcium ion binding NAS 8387172
GO:0019900 kinase binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HPCA: view
genes like me logo Genes that share phenotypes with HPCA: view

Human Phenotype Ontology for HPCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HPCA Gene

MGI Knock Outs for HPCA:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HPCA Gene

Localization for HPCA Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPCA gene
Compartment Confidence
plasma membrane 3
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for HPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030424 axon IEA --
GO:0032590 dendrite membrane IEA --
GO:0032809 neuronal cell body membrane IEA --
GO:0032839 dendrite cytoplasm IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with HPCA: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPCA Gene

Pathways & Interactions for HPCA Gene

SuperPathways for HPCA Gene

PathCards logo More details on SuperPathways for HPCA
No Data Available

Gene Ontology (GO) - Biological Process for HPCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
GO:0010518 positive regulation of phospholipase activity IEA --
GO:0014070 response to organic cyclic compound IEA --
GO:0019722 calcium-mediated signaling IEA --
GO:0031283 negative regulation of guanylate cyclase activity IEA --
genes like me logo Genes that share ontologies with HPCA: view

No data available for Pathways by source and SIGNOR curated interactions for HPCA Gene

Drugs & Compounds for HPCA Gene

Products:

  1. Drug

(1) Drugs for HPCA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with HPCA: view

Transcripts for HPCA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HPCA Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(101) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HPCA Gene

Hippocalcin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HPCA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:
SP2: - - -
SP3: - -
SP4: -

Relevant External Links for HPCA Gene

GeneLoc Exon Structure for
HPCA
ECgene alternative splicing isoforms for
HPCA

Expression for HPCA Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HPCA Gene

mRNA expression in normal human tissues for HPCA Gene
mRNA expression by BioGPS for HPCA GenemRNA expression by GTEx for HPCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HPCA Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x13.8), Brain - Caudate (basal ganglia) (x11.0), Brain - Nucleus accumbens (basal ganglia) (x10.9), and Brain - Hippocampus (x4.8).

Protein differential expression in normal tissues from HIPED for HPCA Gene

This gene is overexpressed in Bone (29.2), Frontal cortex (11.9), and Breast (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPCA Gene



NURSA nuclear receptor signaling pathways regulating expression of HPCA Gene:

HPCA

SOURCE GeneReport for Unigene cluster for HPCA Gene:

Hs.632391

mRNA Expression by UniProt/SwissProt for HPCA Gene:

P84074-HPCA_HUMAN
Tissue specificity: Brain specific.

Evidence on tissue expression from TISSUES for HPCA Gene

  • Nervous system(4.9)
  • Eye(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HPCA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with HPCA: view

Primer Products

No data available for Protein tissue co-expression partners for HPCA Gene

Orthologs for HPCA Gene

This gene was present in the common ancestor of animals.

Orthologs for HPCA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HPCA 34 35
  • 99.31 (n)
oppossum
(Monodelphis domestica)
 Mammalia HPCA 35
  • 97 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia HPCA 34 35
  • 95.51 (n)
mouse
(Mus musculus)
 Mammalia Hpca 34 16 35
  • 94.47 (n)
dog
(Canis familiaris)
 Mammalia HPCA 34 35
  • 93.96 (n)
rat
(Rattus norvegicus)
 Mammalia Hpca 34
  • 92.92 (n)
chicken
(Gallus gallus)
 Aves HPCA 34 35
  • 86.18 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia hpca 34
  • 79.45 (n)
zebrafish
(Danio rerio)
 Actinopterygii hpca 34 35
  • 82.38 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Nca 36
  • 85 (a)
CG7646 36
  • 46 (a)
worm
(Caenorhabditis elegans)
 Secernentea ncs-3 36
  • 55 (a)
ncs-2 36
  • 50 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 78 (a)
 OneToMany
Species where no ortholog for HPCA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HPCA Gene

ENSEMBL:
Gene Tree for HPCA (if available)
TreeFam:
Gene Tree for HPCA (if available)

Paralogs for HPCA Gene

Paralogs for HPCA Gene

(15) SIMAP similar genes for HPCA Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HPCA: view

Variants for HPCA Gene

Sequence variations from dbSNP and Humsavar for HPCA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs550921485 Pathogenic, Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] 32,893,848(+) GCAGC(A/G)CCTCC reference, missense
rs775863165 Pathogenic, Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] 32,889,110(+) CCGCA(A/C/T)CTTTG reference, missense
rs786205675 Pathogenic, Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] 32,889,123(+) ACCAA(A/C)AGCGA reference, missense
rs1000531329 -- 32,893,441(+) CGTCA(A/G)AGAGC intron-variant
rs1000758361 -- 32,889,003(+) TTCCT(C/T)AAGGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for HPCA Gene

Variant ID Type Subtype PubMed ID
nsv516302 CNV loss 19592680
nsv950584 CNV deletion 24416366

Variation tolerance for HPCA Gene

Residual Variation Intolerance Score: 32.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPCA Gene

Human Gene Mutation Database (HGMD)
HPCA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPCA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPCA Gene

Disorders for HPCA Gene

MalaCards: The human disease database

(4) MalaCards diseases for HPCA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 2, torsion, autosomal recessive
  • dystonia musculorum deformans type 2
dystonia 2
  • dystonia 2, torsion, autosomal recessive
ascending cholangitis
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search HPCA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPCA_HUMAN
  • Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]: A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Torsion refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. {ECO:0000269 PubMed:25799108}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HPCA

Human Genome Epidemiology (HuGE) Navigator
HPCA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPCA
genes like me logo Genes that share disorders with HPCA: view

No data available for Genatlas for HPCA Gene

Publications for HPCA Gene

  1. Genomic structure and chromosomal mapping of the human and mouse hippocalcin genes. (PMID: 9931466) Masaki T. … Takamatsu K. (Gene 1998) 2 3 4 22 64
  2. Molecular cloning of human hippocalcin cDNA and chromosomal mapping of its gene. (PMID: 8166736) Takamatsu K. … Noguchi T. (Biochem. Biophys. Res. Commun. 1994) 2 3 4 22 64
  3. Mutations in HPCA cause autosomal-recessive primary isolated dystonia. (PMID: 25799108) Charlesworth G. … Wood N.W. (Am. J. Hum. Genet. 2015) 3 4 64
  4. Mixed lineage kinase 2 and hippocalcin are localized in Lewy bodies of Parkinson's disease. (PMID: 19332348) Nagao M. … Hayashi H. (J. Neurol. Sci. 2009) 3 22 64
  5. Diminished hippocalcin expression in Huntington's disease brain does not account for increased striatal neuron vulnerability as assessed in primary neurons. (PMID: 19686238) Rudinskiy N. … Luthi-Carter R. (J. Neurochem. 2009) 3 22 64

Products for HPCA Gene

Sources for HPCA Gene

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