SMCO2 (single-pass membrane protein with coiled-coil domains 2)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 341346
Gene name Single-pass membrane protein with coiled-coil domains 2
Gene symbol SMCO2
Synonyms (NCBI Gene)
C12orf70
Chromosome 12
Chromosome location 12p11.23
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Download as csvDownload as pdf
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.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NFE2
Protein name Single-pass membrane and coiled-coil domain-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14992 TMCO5 11 → 342 TMCO5 family Family
Sequence 
MALTPTNLNNKMSLQMKMDCQEQQLTKKNNGFFQKLNVTEGAMQDLLKEIIKVDHILDRS
DDEDDISSENPQTDFLHKGMLELEAEHDQDLSKQDKQETDVDEDPQASTSLQFSKKNLLE
LCLKGMFLKLNYWNTKIGLQVKELGADYIDGTEKIDNIIKKINVTENTVKSLLKDMLTLK
GQIEKLEDRGLDLDQGTSTEVNTCNEVYELKKKVIERLEDLCKNVELLSAKLRMYQMEAE
DTDSHSSEEIDTEEMEALLPQAPASFLVQKSPPRNTAWKRALRIFIMFDVLTVTGLLCYI
LFFGATFLFERVLLRMLGCRTTWDLREMREPFLNLEVEALLPS
Sequence length 343
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Download as csvDownload as pdf
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 Reference Evidence Score
HYPEROPIA — GWAS catalog 33830181
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA — GWAS catalog 28604730
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA — GWAS catalog 26977737
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Sleep Apnea, Obstructive Sleep Apnea GWASCAT_DG 26977737
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
STX8 2 shared diseasesHyperopia, Obstructive sleep apnea syndrome 2 shared evidence sourcesGWAS catalog (Hyperopia), GWAS catalog (Obstructive sleep apnea syndrome) Related via 2 shared diseases including Hyperopia, Obstructive sleep apnea syndrome — evidence mostly GWAS catalog. APOE 2 shared diseasesHyperopia, Obstructive sleep apnea syndrome 2 shared evidence sourcesGWAS catalog (Hyperopia), GWAS catalog (Obstructive sleep apnea syndrome) Related via 2 shared diseases including Hyperopia, Obstructive sleep apnea syndrome — evidence mostly GWAS catalog.
Alzheimer disease Linked via 2 of 2 related genesSTX8, APOE Central nervous system cancer Linked via 1 of 2 related genesSTX8 Diabetic neuropathy Linked via 1 of 2 related genesSTX8 Glioblastoma Linked via 1 of 2 related genesSTX8 Glioma Linked via 1 of 2 related genesSTX8