SLC12A9 (solute carrier family 12 member 9)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 56996
Gene name Solute carrier family 12 member 9
Gene symbol SLC12A9
Synonyms (NCBI Gene)
CCC6CIP1WO3.3hCCC6
Chromosome 7
Chromosome location 7q22.1
miRNA miRNA information provided by mirtarbase database.
59
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (59)
miRTarBase ID miRNA Experiments Reference
0 hsa-miR-224-5p ImmunohistochemistryLuciferase reporter assay 24921914
MIRT1352390 hsa-let-7a CLIP-seq
MIRT1352391 hsa-let-7b CLIP-seq
MIRT1352392 hsa-let-7c CLIP-seq
MIRT1352393 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0005886 Component Plasma membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0006884 Process Cell volume homeostasis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616861 17435 ENSG00000146828
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXP2
Protein name Solute carrier family 12 member 9 (Cation-chloride cotransporter 6) (hCCC6) (Cation-chloride cotransporter-interacting protein 1) (CCC-interacting protein 1) (hCIP1) (Potassium-chloride transporter 9) (WO3.3)
Protein function May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function (PubMed:10871601). May play a role in lysosomal ion flux and osmoregulation (PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00324 AA_permease 42 → 536 Amino acid permease Family
PF03522 SLC12 545 → 639 Solute carrier family 12 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart.
Sequence 
MASESSPLLAYRLLGEEGVALPANGAGGPGGASARKLSTFLGVVVPTVLSMFSIVVFLRI
GFVVGHAGLLQALAMLLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSI
GLMFYLANVCGCAVSLLGLVESVLDVFGADATGPSGLRVLPQGYGWNLLYGSLLLGLVGG
VCTLGAGLYARASFLTFLLVSGSLASVLISFVAVGPRDIRLTPRPGPNGSSLPPRFGHFT
GFNSSTLKDNLGAGYAEDYTTGAVMNFASVFAVLFNGCTGIMAGANMSGELKDPSRAIPL
GTIVAVAYTFFVYVLLFFLSSFTCDRTLLQEDYGFFRAISLWPPLVLIGIYATALSASMS
SLIGASRILHALARDDLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAV
VTVFYLVAYAAVDLSCLSLEWASAPNFRPTFSLFSWHTCLLGVASCLLMMFLISPGAAGG
SLLLMGLLAALLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKDHVKFWRPQLLLLVGN
PRGALPLLRLANQLKKGGLYVLGHVTLGDLDSLPSDPVQPQYGAWLSLVDRAQVKAFVDL
TLSPSVRQGAQHLLRISGLGGMKPNTLVLGFYDDAPPQDHFLTDPAFSEPADSTREGSSP
ALSTLFPPPRAPGSPRALNPQDYVATVADALKMNKNVVLARASGALPPERLSRGSGGTSQ
LHHVDVWPLNLLRPRGGPGYVDVCGLFLLQMATILGMVPAWHSARLRIFLCLGPREAPGA
AEGRLRALLSQLRIRAEVQEVVWGEGAGAGEPEAEEEGDFVNSGRGDAEAEALARSANAL
VRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDLGPT
LLVHGVTPVTCTDL
Sequence length 914
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene miRNA 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 (7)
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
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (186)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 22684370
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11895758
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15936816
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11752463, 12047142, 14628083, 15212949, 15246559
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 11064455, 22814028
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18562088
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21285982, 24921914, 9806155
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 14628083, 16904205, 9252195
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 12885834, 30272263
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19394332, 8701978
★★★★★
★☆☆☆☆
Found in Text Mining only