SMIM29 (small integral membrane protein 29)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611419 1340 ENSG00000186577
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.
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
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
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
Show/Hide Text Mining Associations (37)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29560114
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 29560114
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24532676, 25707478, 27159840 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Carotid artery stenosis Pubtator 36894991 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease Pubtator 27159840 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 29560114
★★★★★
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Chondrosarcoma BEFREE 29100385
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastrointestinal Neoplasms Gastrointestinal neoplasm Pubtator 37268816 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 34739189 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Congenital heart defect Pubtator 27670201 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only