Gene Gene information from NCBI Gene database.
Entrez ID 10723
Gene name Solute carrier family 12 member 7
Gene symbol SLC12A7
Synonyms (NCBI Gene)
KCC4
Chromosome 5
Chromosome location 5p15.33
miRNA miRNA information provided by mirtarbase database.
452
miRTarBase ID miRNA Experiments Reference
MIRT016871 hsa-miR-335-5p Microarray 18185580
MIRT019302 hsa-miR-148b-3p Microarray 17612493
MIRT534287 hsa-miR-3133 PAR-CLIP 22012620
MIRT534286 hsa-miR-605-5p PAR-CLIP 22012620
MIRT534285 hsa-miR-4511 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604879 10915 ENSG00000113504
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y666
Protein name Solute carrier family 12 member 7 (Electroneutral potassium-chloride cotransporter 4) (K-Cl cotransporter 4)
Protein function Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10913127). May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of
PDB 7D99
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00324 AA_permease 123 320 Amino acid permease Family
PF00324 AA_permease 411 696 Amino acid permease Family
PF03522 SLC12 708 834 Solute carrier family 12 Family
PF03522 SLC12 817 1083 Solute carrier family 12 Family
Tissue specificity TISSUE SPECIFICITY: Detected in muscle, brain, lung, heart and kidney. {ECO:0000269|PubMed:10347194}.
Sequence
MPTNFTVVPVEAHADGGGDETAERTEAPGTPEGPEPERPSPGDGNPRENSPFLNNVEVEQ
ESFFEGKNMALFEEEMDSNPMVSSLLNKLANYTNLSQGVVEHEEDEESRRREAKAPRMGT
FIGVYLPCLQNILGVILFLRLTWIVGVAGVLESFLIVAMCCTCTMLTAISMSAIATNGVV
PAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFLTYISPGAAIFQAEAA
GGEAAAMLHNMRVYGTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIKSAF
DPPDIPVCLLGNRTLSRRSF
DACVKAYGIHNNSATSALWGLFCNGSQPSAACDEYFIQNN
VTEIQGIPGAASGVFLENLWSTYAHAGAFVEKKGVPSVPVAEESRASALPYVLTDIAASF
TLLVGIYFPSVTGIMAGSNRSGDLKDAQKSIPTGTILAIVTTSFIYLSCIVLFGACIEGV
VLRDKFGEALQGNLVIGMLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIARDGIVP
FLQVFGHGKANGEPTWALLLTVLICETGILIASLDSVAPILSMFFLMCYLFVNLACAVQT
LLRTPNWRPRFKFYHWTLSFLGMSLCLALMFICSWYYALSAMLIAGCIYKYIEYRGAEKE
WGDGIRGLSLNAARYALLRVEHGPPHTKNWRPQVLV
MLNLDAEQAVKHPRLLSFTSQLKA
GKGLTIVGSVLEGTYLDKHMEAQRAEENIRSLMSTEKTKGFCQLVVSSSLRDGMSHLIQS
AGLGGLKHNTVLMAWPASWKQEDNPFSWKNFVDTVR
DTTAAHQALLVAKNVDSFPQNQER
FGGGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQVDDNSIQMKKDLQMFLY
HLRISAEVEVVEMVENDISAFTYERTLMMEQRSQMLKQMQLSKNEQEREAQLIHDRNTAS
HTAAAARTQAPPTPDKVQMTWTREKLIAEKYRSRDTSLSGFKDLFSMKPDQSNVRRMHTA
VKLNGVVLNKSQDAQLVLLNMPGPPKNRQGDENYMEFLEVLTEGLNRVLLVRGGGREVIT
IYS
Sequence length 1083
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Collecting duct acid secretion   Cation-coupled Chloride cotransporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
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
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 26454676, 29884238, 31034883
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 26454676, 29884238 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 26454676, 29884238, 31034883
★☆☆☆☆
Found in Text Mining only
Aicardi Syndrome Aicardi syndrome Pubtator 26454676 Associate
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 26454676, 29884238, 31034883
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 26039340
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17133354
★☆☆☆☆
Found in Text Mining only
Congenital Hydrocephalus Congenital Hydrocephalus BEFREE 31393094
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 25529063
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 17133354
★☆☆☆☆
Found in Text Mining only