HPCA (hippocalcin)

2014-11-01  

Identity

HGNC
HPCA
LOCATION
1p35.1
LOCUSID
3208
ALIAS
BDR2,DYT2

Other Information

Locus ID:

NCBI: 3208
MIM: 142622
HGNC: 5144
Ensembl: ENSG00000121905

Variants:

dbSNP: 3208
ClinVar: 3208
TCGA: ENSG00000121905
COSMIC: HPCA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121905ENST00000373467P84074

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
146388562003Dynamics and calcium sensitivity of the Ca2+/myristoyl switch protein hippocalcin in living cells.35
225447572012A novel acetylation cycle of transcription co-activator Yes-associated protein that is downstream of Hippo pathway is triggered in response to SN2 alkylating agents.23
257991082015Mutations in HPCA cause autosomal-recessive primary isolated dystonia.13
196862382009Diminished hippocalcin expression in Huntington's disease brain does not account for increased striatal neuron vulnerability as assessed in primary neurons.12
160534452005High-affinity interaction of the N-terminal myristoylation motif of the neuronal calcium sensor protein hippocalcin with phosphatidylinositol 4,5-bisphosphate.11
193323482009Mixed lineage kinase 2 and hippocalcin are localized in Lewy bodies of Parkinson's disease.3
277712282017DYT2 screening in early-onset isolated dystonia.2
283985552017Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.2
301458092018HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.1
237828192013[Dystonia genes and elucidation of their roles in dystonia pathogenesis].0

Citation

Dessen P

HPCA (hippocalcin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64410/hpca