Gene Gene information from NCBI Gene database.
Entrez ID 58515
Gene name Selenoprotein K
Gene symbol SELENOK
Synonyms (NCBI Gene)
HSPC030HSPC297SELK
Chromosome 3
Chromosome location 3p21.1
Summary The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0002230 Process Positive regulation of defense response to virus by host IEA
GO:0005515 Function Protein binding IPI 25368151, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 16962588, 25368151
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607916 30394 ENSG00000113811
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6D0
Protein name Selenoprotein K (SelK)
Protein function Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration (By similarity). Involved in endoplasmic reticulum-associated degradation (ERAD) of soluble glycosylated proteins (PubMed:22
PDB 6DO3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10961 SelK_SelG 2 91 Selenoprotein SelK_SelG Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart. {ECO:0000269|PubMed:16962588}.
Sequence
Sequence length 94
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
DRY EYE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 27275761
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 23133653
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 23133653
★☆☆☆☆
Found in Text Mining only