Gene Gene information from NCBI Gene database.
Entrez ID 28962
Gene name Osteoclastogenesis associated transmembrane protein 1
Gene symbol OSTM1
Synonyms (NCBI Gene)
GIPNGLHSPC019OPTB5
Chromosome 6
Chromosome location 6q21
Summary This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-ter
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs119460973 A>C,T Pathogenic Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs202093691 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs794727287 CT>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs1554250938 C>A Pathogenic Intron variant
rs1562370077 C>T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
608
miRTarBase ID miRNA Experiments Reference
MIRT007373 hsa-miR-140-5p Luciferase reporter assay 23389033
MIRT016070 hsa-miR-374b-5p Sequencing 20371350
MIRT020467 hsa-miR-106b-5p Microarray 17242205
MIRT021288 hsa-miR-125a-5p Sequencing 20371350
MIRT029214 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32851177, 33961781, 35271311
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 21527911
GO:0005765 Component Lysosomal membrane IEA
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607649 21652 ENSG00000081087
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86WC4
Protein name Osteopetrosis-associated transmembrane protein 1 (Chloride channel 7 beta subunit)
Protein function Required for osteoclast and melanocyte maturation and function.
PDB 7BXU , 7CQ5 , 7CQ6 , 7CQ7 , 7JM7 , 8HVT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09777 OSTMP1 84 328 Osteopetrosis-associated transmembrane protein 1 precursor Family
Sequence
Sequence length 334
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
119
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive osteopetrosis 5 Pathogenic; Likely pathogenic rs2114593143, rs1562370077, rs119460973, rs794727287, rs752090052, rs761026137, rs1554250938, rs1582396088 RCV005253964
RCV000003076
RCV000003078
RCV000175853
RCV005037005
RCV004595210
RCV000578346
RCV000987757
Osteopetrosis Likely pathogenic rs2482241906 RCV003226798
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
OSTM1-related disorder Likely benign; Conflicting classifications of pathogenicity rs770742674, rs202093691, rs191274133, rs886060973, rs565610194 RCV003971017
RCV003917601
RCV003973548
RCV003932464
RCV003945875
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 17922613
Bone Marrow Failure Disorders Associate 17922613
Brain Diseases Associate 28612835
Deafness Autosomal Recessive 5 Associate 35902071
Death Associate 35902071
Developmental Disabilities Associate 17922613
Glioma Subependymal Associate 17922613
Lysosomal Storage Diseases Associate 21527911, 32851177
Mental Disorders Associate 34011644
Neoplasms Associate 34398824, 35603200