OCSTAMP (osteoclast stimulatory transmembrane protein)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 128506
Gene name Osteoclast stimulatory transmembrane protein
Gene symbol OCSTAMP
Synonyms (NCBI Gene)
C20orf123OC-STAMPdJ257E24.3
Chromosome 20
Chromosome location 20q13.12
Summary The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone res
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
GO:0030154 Process Cell differentiation IEA
GO:0034241 Process Positive regulation of macrophage fusion IEA
GO:0045672 Process Positive regulation of osteoclast differentiation IEA
GO:0045672 Process Positive regulation of osteoclast differentiation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620432 16116 ENSG00000149635
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BR26
Protein name Osteoclast stimulatory transmembrane protein (OC-STAMP)
Protein function Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07782 DC_STAMP 254 → 446 DC-STAMP-like protein Family
Sequence 
MPGHPGAAEQLVKTGWRSWHLGFWKALAPLQAAWDAFSQPVPASCGQLLTQLLLCASLAA
AAAGLVYHWLASLLLYPPGPSAMVATVCGLLVFLSLGLVPPVRCLFALSVPTLGMEQGRR
LLLSYSTATLAIAVVPNVLANVGAAGQVLRCVTEGSLESLLNTTHQLHAASRALGPTGQA
GSRGLTFEAQDNGSAFYLHMLRVTQQVLEDFSGLESLARAAALGTQRVVTGLFMLGLLVE
SAWYLHCYLTDLRFDNIYATQQLTQRLAQAQATHLLAPPPTWLLQAAQLRLSQEELLSCL
LRLGLLALLLVATAVAVATDHVAFLLAQATVDWAQKLPTVPITLTVKYDVAYTVLGFIPF
LFNQLAPESPFLSVHSSYQWELRLTSARCPLLPARRPRAAAPLAAGALQLLAGSTVLLEA
YARRLRHAIAASFFTAQEARRVRHLHARLQRRHDRHQGQQLPLGDPSCVPTPRPACKPPA
WIDYRLDALRTESSEGEGKELWSCRDLSCNLGPVPPPCVTLGKSLHLSEPRFLHLHNDSI
FTIDVTYFPRRDVVRMEGNTGHDRPG
Sequence length 566
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations