Gene Gene information from NCBI Gene database.
Entrez ID 221491
Gene name Small integral membrane protein 29
Gene symbol SMIM29
Synonyms (NCBI Gene)
C6orf1LBH
Chromosome 6
Chromosome location 6p21.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611419 1340 ENSG00000186577
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86T20
Protein name Small integral membrane protein 29 (Protein LBH)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in spleen, thymus, prostate, testis, uterus, small intestine, colon and peripheral blood leukocytes. {ECO:0000269|PubMed:10036196}.
Sequence
MSNTTVPNAPQANSDSMVGYVLGPFFLITLVGVVVAVVMYVQKKKRVDRLRHHLLPMYSY
DPAEELHEAEQELLSDMGDPKVVHGWQSGYQHKRMPLLDVKT
Sequence length 102
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carotid Stenosis Associate 36894991
★☆☆☆☆
Found in Text Mining only