HS1BP3 (HCLS1 binding protein 3)

2014-11-01  

Identity

HGNC
HS1BP3
LOCATION
2p24.1
LOCUSID
64342
ALIAS
ETM2,HS1-BP3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64342
MIM: 609359
HGNC: 24979
Ensembl: ENSG00000118960

Variants:

dbSNP: 64342
ClinVar: 64342
TCGA: ENSG00000118960
COSMIC: HS1BP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118960ENST00000304031Q53T59
ENSG00000118960ENST00000402541F6TR53
ENSG00000118960ENST00000406618B5MC96
ENSG00000118960ENST00000415264H7BZ19
ENSG00000118960ENST00000445102H7C0Y9
ENSG00000118960ENST00000446825F8WDN8
ENSG00000118960ENST00000458740H7BZZ1
ENSG00000118960ENST00000631166A0A0D9SFN1
ENSG00000118960ENST00000651498A0A494C0K6

Expression (GTEx)

0
5
10
15
20
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
156993682005A variant in the HS1-BP3 gene is associated with familial essential tremor.13
280048272016HS1BP3 negatively regulates autophagy by modulation of phosphatidic acid levels.13
161161422005Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease.9
195246412009DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.4
195246412009DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.4
216997502011Human HS1BP3 induces cell apoptosis and activates AP-1.2

Citation

Dessen P

HS1BP3 (HCLS1 binding protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64425/hs1bp3-(hcls1-binding-protein-3)