HRC (histidine rich calcium binding protein)

2016-01-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 3270
MIM: 142705
HGNC: 5178
Ensembl: ENSG00000130528

Variants:

dbSNP: 3270
ClinVar: 3270
TCGA: ENSG00000130528
COSMIC: HRC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130528ENST00000252825P23327
ENSG00000130528ENST00000595625M0QZ43
ENSG00000130528ENST00000598858M0QY84

Expression (GTEx)

0
100
200
300
400
500
600

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175266522007Histidine-rich Ca-binding protein interacts with sarcoplasmic reticulum Ca-ATPase.41
151918862004Regulation of myocardial function by histidine-rich, calcium-binding protein.28
186174812008The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy.28
186174812008The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy.28
150827712004HRC is a direct transcriptional target of MEF2 during cardiac, skeletal, and arterial smooth muscle development in vivo.26
241258472013Abnormal calcium cycling and cardiac arrhythmias associated with the human Ser96Ala genetic variant of histidine-rich calcium-binding protein.13
287847722017Phosphorylation of serine96 of histidine-rich calcium-binding protein by the Fam20C kinase functions to prevent cardiac arrhythmia.8
257626222015The histidine-rich calcium binding protein (HRC) promotes tumor metastasis in hepatocellular carcinoma and is upregulated by SATB1.7
248051972014The arrhythmogenic human HRC point mutation S96A leads to spontaneous Ca(2+) release due to an impaired ability to buffer store Ca(2+).6
261762912015Histidine-rich calcium binding protein promotes growth of hepatocellular carcinoma in vitro and in vivo.2

Citation

Dessen P

HRC (histidine rich calcium binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55599/hrc