HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3)

2012-03-01  

Identity

HGNC
HPS6
LOCATION
10q24.32
LOCUSID
79803
ALIAS
BLOC2S3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79803
MIM: 607522
HGNC: 18817
Ensembl: ENSG00000166189

Variants:

dbSNP: 79803
ClinVar: 79803
TCGA: ENSG00000166189
COSMIC: HPS6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166189ENST00000299238Q86YV9

Expression (GTEx)

0
5
10
15
20
25
30
35
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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
150305692004Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.38
198435032009Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.12
222039542012Targeting protein-trafficking pathways alters melanoma treatment sensitivity.8
251896192014HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.8
276419502016Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.4
272258482016Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.2
268233952016The ophthalmic presentation of Hermansky-Pudlak syndrome 6.1
279175942017A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.1
303690442018Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.0

Citation

Dessen P

HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52631/hps6