Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 9389
Gene name Solute carrier family 22 member 14
Gene symbol SLC22A14
Synonyms (NCBI Gene)
OCTL2OCTL4ORCTL4
Chromosome 3
Chromosome location 3p22.2
Summary This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small m
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT022050 hsa-miR-128-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 33882315
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604048 8495 ENSG00000144671
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y267
Protein name Solute carrier family 22 member 14 (Organic cation transporter-like 4) (ORCTL-4)
Protein function Riboflavin transporter localized at the inner mitochondrial membrane of the spermatozoa midpiece, which is required for male fertility (By similarity). SLC22A14-mediated riboflavin transport is essential for spermatozoa energy generation and mot
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 168 → 572 Sugar (and other) transporter Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10072596}.
Sequence
Sequence length 594
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 Reference Evidence Score
Cholangiocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations