HEATR5B (HEAT repeat containing 5B)

2014-11-01  

Identity

HGNC
HEATR5B
LOCATION
2p22.2
LOCUSID
54497
ALIAS
p200,p200a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54497
HGNC: 29273
Ensembl: ENSG00000008869

Variants:

dbSNP: 54497
ClinVar: 54497
TCGA: ENSG00000008869
COSMIC: HEATR5B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000008869ENST00000233099Q9P2D3
ENSG00000008869ENST00000425467H7C2X3

Expression (GTEx)

0
5
10
15
20
25
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
382407992024Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking.0
382407992024Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking.0
338244662021Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.6
338244662021Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.6
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.20
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.20
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.77
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.77

Citation

Dessen P

HEATR5B (HEAT repeat containing 5B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64223/tumors-explorer/meetings/