SLC22A24 (solute carrier family 22 member 24)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 283238
Gene name Solute carrier family 22 member 24
Gene symbol SLC22A24
Synonyms (NCBI Gene)
NET46
Chromosome 11
Chromosome location 11q12.3
Summary SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0006629 Process Lipid metabolic process IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0006869 Process Lipid transport IEA
GO:0008202 Process Steroid metabolic process IDA 31553721
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
611698 28542 ENSG00000197658
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.
Q8N4F4
Protein name Steroid transmembrane transporter SLC22A24 (Solute carrier family 22 member 24)
Protein function Renal transmembrane organic anion/dicarboxylate exchanger that participates in the reabsorption of conjugated steroids including estradiol-17beta-D-glucuronide (or 17beta-estradiol 17-O-(beta-D-glucuronate)), androstanediol glucuronide (or 5alph
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 16 → 312 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Localized to the kidney (PubMed:31553721). Highly specific expression pattern in the nephron, localized to segment 3 of the proximal tubule (PubMed:31553721). {ECO:0000269|PubMed:31553721}.; TISSUE SPECIFICITY: [Isoform 2]
Sequence 
MGFDVLLDQVGGMGRFQICLIAFFCITNILLFPNIVLENFTAFTPSHRCWVPLLDNDTVS
DNDTGTLSKDDLLRISIPLDSNLRPQKCQRFIHPQWQLLHLNGTFPNTNEPDTEPCVDGW
VYDRSSFLSTIVTEWDLVCESQSLKSMVQSLFMAGSLLGGLIYGHLSDRVGRKIICKLCF
LQLAISNTCAAFAPTFLVYCILRFLAGFSTMTILGNTFILSLEWTLPRSRSMTIMVLLCS
YSVGQMLLGGLAFAIQDWHILQLTVSTPIIVLFLSSWKMVESARWLIINNQLDEGLKELR
RVAHINGKKNTEETLTTELVRSTMKKELDAVRIKTSIFSLFRAPKLRMRVFGLCFVRFAI
TVPFYGLILNLQHLGSNVSLFQILCGAVTFTARCVSLLTLNHMGRRISQILFTFPVGLFI
LVNTFLPQEMQILRVVLATLGIGSVSAASNSASVHHNELVPTILRSTVAGINAVSGRTGA
ALAPLLMTLMAYSPHLPWISYGVFPILAVPVILLLPETRDLPLPNTIQDVENDRKDSRNI
KQEDTCMKVTQF
Sequence length 552
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 (4)
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
CONOTRUNCAL HEART MALFORMATIONS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 29703930
★★★★★
★☆☆☆☆
Found in Text Mining only
Conotruncal cardiac defects Associate 24800985
★★★★★
★☆☆☆☆
Found in Text Mining only
Papilloma Choroid Plexus Associate 29703930
★★★★★
★☆☆☆☆
Found in Text Mining only