Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56996
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 12 member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC12A9
Synonyms (NCBI Gene) Gene synonyms aliases	CCC6, CIP1, WO3.3, hCCC6
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.1

Show/Hide all(59)

miRTarBase ID	miRNA	Experiments	Reference
0	hsa-miR-224-5p	Immunohistochemistry, Luciferase 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
MIRT1352394	hsa-let-7e	CLIP-seq
MIRT1352395	hsa-let-7f	CLIP-seq
MIRT1352396	hsa-let-7g	CLIP-seq
MIRT1352397	hsa-let-7i	CLIP-seq
MIRT1352398	hsa-miR-133a	CLIP-seq
MIRT1352399	hsa-miR-133b	CLIP-seq
MIRT1352400	hsa-miR-202	CLIP-seq
MIRT1352401	hsa-miR-2110	CLIP-seq
MIRT1352402	hsa-miR-214	CLIP-seq
MIRT1352403	hsa-miR-3127-3p	CLIP-seq
MIRT1352404	hsa-miR-3619-5p	CLIP-seq
MIRT1352405	hsa-miR-4271	CLIP-seq
MIRT1352406	hsa-miR-4291	CLIP-seq
MIRT1352407	hsa-miR-4458	CLIP-seq
MIRT1352408	hsa-miR-4500	CLIP-seq
MIRT1352409	hsa-miR-4661-3p	CLIP-seq
MIRT1352410	hsa-miR-4725-3p	CLIP-seq
MIRT1352411	hsa-miR-4738-3p	CLIP-seq
MIRT1352412	hsa-miR-664	CLIP-seq
MIRT1352413	hsa-miR-761	CLIP-seq
MIRT1352414	hsa-miR-922	CLIP-seq
MIRT1352415	hsa-miR-98	CLIP-seq
MIRT1352390	hsa-let-7a	CLIP-seq
MIRT1352391	hsa-let-7b	CLIP-seq
MIRT1352392	hsa-let-7c	CLIP-seq
MIRT1352393	hsa-let-7d	CLIP-seq
MIRT1352394	hsa-let-7e	CLIP-seq
MIRT1352395	hsa-let-7f	CLIP-seq
MIRT1352396	hsa-let-7g	CLIP-seq
MIRT1352397	hsa-let-7i	CLIP-seq
MIRT2104356	hsa-miR-1236	CLIP-seq
MIRT2104357	hsa-miR-128	CLIP-seq
MIRT1352400	hsa-miR-202	CLIP-seq
MIRT1352401	hsa-miR-2110	CLIP-seq
MIRT1352402	hsa-miR-214	CLIP-seq
MIRT1352403	hsa-miR-3127-3p	CLIP-seq
MIRT1352404	hsa-miR-3619-5p	CLIP-seq
MIRT2104358	hsa-miR-3677-5p	CLIP-seq
MIRT1352405	hsa-miR-4271	CLIP-seq
MIRT1352406	hsa-miR-4291	CLIP-seq
MIRT1352407	hsa-miR-4458	CLIP-seq
MIRT1352408	hsa-miR-4500	CLIP-seq
MIRT2104359	hsa-miR-4691-5p	CLIP-seq
MIRT2104360	hsa-miR-4698	CLIP-seq
MIRT1352410	hsa-miR-4725-3p	CLIP-seq
MIRT1352411	hsa-miR-4738-3p	CLIP-seq
MIRT2104361	hsa-miR-4757-5p	CLIP-seq
MIRT1352413	hsa-miR-761	CLIP-seq
MIRT1352414	hsa-miR-922	CLIP-seq
MIRT1352415	hsa-miR-98	CLIP-seq
MIRT2328788	hsa-miR-1268	CLIP-seq
MIRT2328789	hsa-miR-1268b	CLIP-seq
MIRT1352409	hsa-miR-4661-3p	CLIP-seq
MIRT2328790	hsa-miR-585	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IEA
GO:0006884	Process	Cell volume homeostasis	IBA	21873635
GO:0015377	Function	Cation:chloride symporter activity	TAS	10871601
GO:0015379	Function	Potassium:chloride symporter activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0055064	Process	Chloride ion homeostasis	IBA	21873635
GO:0055075	Process	Potassium ion homeostasis	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635

MIM	HGNC	e!Ensembl
616861	17435	ENSG00000146828

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Capillary malformation-arteriovenous malformation	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	rs797044451, rs137853217, rs137853218, rs1348578241, rs1580386963, rs878854569, rs1060503441, rs1060503439, rs1554049394, rs1554050230, rs1554050584, rs1384480619, rs1554045819, rs983011713, rs1204340475 View all (14 more)
Hypertension	Hypertensive disease	rs13306026	21347282

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Coronary heart disease	Coronary heart disease	21347282	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder		GenCC
Bipolar Disorder	Bipolar Disorder		GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenoma	Associate	38509667
Colorectal Neoplasms	Associate	36941538, 38157260
Developmental Disabilities	Associate	38334070
Genetic Diseases Inborn	Associate	38334070
Hair Diseases	Associate	38334070
Heart Defects Congenital	Associate	38334070
Intellectual Disability	Associate	38334070
Lysosomal Storage Diseases	Associate	38334070
Muscular Dystrophy Congenital Megaconial Type	Associate	38334070
Parathyroid Neoplasms	Associate	38509667
Uveal melanoma	Associate	36925204

SLC12A9 (solute carrier family 12 member 9)