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
359020712022OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration.2
359020712022OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration.2
321887362020Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication.5
327492172020Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.32
321887362020Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication.5
327492172020Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.32
292976012018Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation.10
292976012018Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation.10
286128352017Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.5
286128352017Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.5
265986072016Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.11
265986072016Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.11
247193162014Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.14
247193162014Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.14
236855432013Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.11

Citation

Dessen P

OSTM1 (osteoclastogenesis associated transmembrane protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56205/gene-fusions/case-report-explorer/gene-explorer/