OSTM1 (osteoclastogenesis associated transmembrane protein 1)

2016-10-01  

Identity

HGNC
OSTM1
LOCATION
6q21
LOCUSID
28962
ALIAS
GIPN,GL,HSPC019,OPTB5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 28962
MIM: 607649
HGNC: 21652
Ensembl: ENSG00000081087

Variants:

dbSNP: 28962
ClinVar: 28962
TCGA: ENSG00000081087
COSMIC: OSTM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081087ENST00000193322Q86WC4
ENSG00000081087ENST00000440575A0A0A0MSP4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

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
215279112011ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.67
126272282003Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.46
128266072003Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP.22
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
195072102009A single-center experience in 20 patients with infantile malignant osteopetrosis.16
179226132008Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis.15
239831212013Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.12
182960232008OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling.11
247193162014Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.7

Citation

Dessen P

OSTM1 (osteoclastogenesis associated transmembrane protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56205/ostm1-(osteoclastogenesis-associated-transmembrane-protein-1)