Gene Gene information from NCBI Gene database.
Entrez ID 84561
Gene name Solute carrier family 12 member 8
Gene symbol SLC12A8
Synonyms (NCBI Gene)
CCC9
Chromosome 3
Chromosome location 3q21.2
Summary This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep
miRNA miRNA information provided by mirtarbase database.
419
miRTarBase ID miRNA Experiments Reference
MIRT1352307 hsa-miR-1262 CLIP-seq
MIRT1352308 hsa-miR-139-3p CLIP-seq
MIRT1352309 hsa-miR-24 CLIP-seq
MIRT1352310 hsa-miR-3120-5p CLIP-seq
MIRT1352311 hsa-miR-3122 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0006811 Process Monoatomic ion transport IEA
GO:0006813 Process Potassium ion transport IEA
GO:0006884 Process Cell volume homeostasis IBA
GO:0015293 Function Symporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611316 15595 ENSG00000221955
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0AV02
Protein name Solute carrier family 12 member 8 (Cation-chloride cotransporter 9)
Protein function Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00324 AA_permease 44 415 Amino acid permease Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous with very low level in normal skin. {ECO:0000269|PubMed:11863360}.
Sequence
MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFL
RTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGG
TIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWII
RLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVF
FPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFL
IAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTP
VAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPV
PEPVL
REGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQG
EGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTS
KSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLL
GAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSC
RSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY
Sequence length 714
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autism Spectrum Disorder Associate 39519104
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 34365894
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 39247556
★☆☆☆☆
Found in Text Mining only
Drug Related Side Effects and Adverse Reactions Associate 39247556
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 34365894
★☆☆☆☆
Found in Text Mining only
Obesity Associate 31662442
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Associate 34365894
★☆☆☆☆
Found in Text Mining only