HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2)

2007-04-01  

Identity

HGNC
HPS5
LOCATION
11p15.1
LOCUSID
11234
ALIAS
AIBP63,BLOC2S2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11234
MIM: 607521
HGNC: 17022
Ensembl: ENSG00000110756

Variants:

dbSNP: 11234
ClinVar: 11234
TCGA: ENSG00000110756
COSMIC: HPS5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110756ENST00000349215Q9UPZ3
ENSG00000110756ENST00000396253Q9UPZ3
ENSG00000110756ENST00000438420Q9UPZ3
ENSG00000110756ENST00000531848G3V159
ENSG00000110756ENST00000537258F5H6Q8
ENSG00000110756ENST00000544218F5GWM5

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
150305692004Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.38
173018332007Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.21
152964952004Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.16
218330172011Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.6
275932002016NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.6
236079802013Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.2
290906122018Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.0

Citation

Dessen P

HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47152/hps5-(hps5-biogenesis-of-lysosomal-organelles-complex-2-subunit-2)