Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
28962
Gene name Gene Name - the full gene name approved by the HGNC.
Osteoclastogenesis associated transmembrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OSTM1
Synonyms (NCBI Gene) Gene synonyms aliases
GIPN, GL, HSPC019, OPTB5
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607649 21652 ENSG00000081087
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteopetrosis Autosomal recessive osteopetrosis 5 rs1562370077, rs119460973, rs794727287, rs1554250938, rs1582396088 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Osteopetrosis With Neuroaxonal Dysplasia infantile osteopetrosis with neuroaxonal dysplasia N/A N/A GenCC
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease 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