HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2)

2014-11-01  

Identity

HGNC
HPS4
LOCATION
22q12.1
LOCUSID
89781
ALIAS
BLOC3S2,LE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 89781
MIM: 606682
HGNC: 15844
Ensembl: ENSG00000100099

Variants:

dbSNP: 89781
ClinVar: 89781
TCGA: ENSG00000100099
COSMIC: HPS4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100099ENST00000336873Q9NQG7
ENSG00000100099ENST00000398145Q9NQG7
ENSG00000100099ENST00000402105Q9NQG7
ENSG00000100099ENST00000422379F1LLU8
ENSG00000100099ENST00000429411F8VYA9
ENSG00000100099ENST00000439453F8WC53
ENSG00000100099ENST00000464362E5RG08

Expression (GTEx)

0
10
20
30
40
50
60
70
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

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

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
230849912012BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.102
126643042003Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.49
118364982002Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.47
127562482003BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.37
128472902003Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.36
200481592010Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.35
184636832008Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.28
126636592003The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.26
164313082006Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.17
218330172011Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.6

Citation

Dessen P

HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64418/hps4