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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6560
Gene name	Solute carrier family 12 member 4
Gene symbol	SLC12A4
Synonyms (NCBI Gene)	CTC-479C5.17KCC1hKCC1
Chromosome	16
Chromosome location	16q22.1
Summary	This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript varian

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005176	hsa-miR-30a-5p	pSILAC	18668040
MIRT020815	hsa-miR-155-5p	Proteomics	18668040
MIRT005176	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT051485	hsa-let-7e-5p	CLASH	23622248
MIRT050324	hsa-miR-25-3p	CLASH	23622248
MIRT049408	hsa-miR-92a-3p	CLASH	23622248
MIRT1352005	hsa-miR-3189-5p	CLIP-seq
MIRT1352006	hsa-miR-4269	CLIP-seq
MIRT1352007	hsa-miR-4514	CLIP-seq
MIRT1352008	hsa-miR-4692	CLIP-seq
MIRT1352009	hsa-miR-4742-5p	CLIP-seq
MIRT1352010	hsa-miR-4758-3p	CLIP-seq
MIRT1352011	hsa-miR-1234	CLIP-seq
MIRT1352012	hsa-miR-1296	CLIP-seq
MIRT1352013	hsa-miR-3126-5p	CLIP-seq
MIRT1352014	hsa-miR-3689a-3p	CLIP-seq
MIRT1352015	hsa-miR-3689c	CLIP-seq
MIRT1352016	hsa-miR-4512	CLIP-seq
MIRT1352017	hsa-miR-4640-5p	CLIP-seq
MIRT1352018	hsa-miR-4726-5p	CLIP-seq
MIRT1352019	hsa-miR-4728-5p	CLIP-seq
MIRT2104315	hsa-miR-4645-5p	CLIP-seq
MIRT2104316	hsa-miR-4673	CLIP-seq
MIRT2328627	hsa-miR-4435	CLIP-seq
MIRT2623130	hsa-miR-1205	CLIP-seq
MIRT2623131	hsa-miR-1207-3p	CLIP-seq
MIRT2623132	hsa-miR-1343	CLIP-seq
MIRT2623133	hsa-miR-1470	CLIP-seq
MIRT2623134	hsa-miR-1587	CLIP-seq
MIRT2623135	hsa-miR-204	CLIP-seq
MIRT2623136	hsa-miR-211	CLIP-seq
MIRT2623137	hsa-miR-3074-5p	CLIP-seq
MIRT2623138	hsa-miR-3121-3p	CLIP-seq
MIRT2623139	hsa-miR-3162-3p	CLIP-seq
MIRT2623140	hsa-miR-3176	CLIP-seq
MIRT2623141	hsa-miR-326	CLIP-seq
MIRT2623142	hsa-miR-330-5p	CLIP-seq
MIRT2623143	hsa-miR-342-5p	CLIP-seq
MIRT2623144	hsa-miR-3652	CLIP-seq
MIRT2623145	hsa-miR-378	CLIP-seq
MIRT2623146	hsa-miR-378b	CLIP-seq
MIRT2623147	hsa-miR-378c	CLIP-seq
MIRT2623148	hsa-miR-378d	CLIP-seq
MIRT2623149	hsa-miR-378e	CLIP-seq
MIRT2623150	hsa-miR-378f	CLIP-seq
MIRT2623151	hsa-miR-378g	CLIP-seq
MIRT2623152	hsa-miR-378h	CLIP-seq
MIRT2623153	hsa-miR-378i	CLIP-seq
MIRT2623154	hsa-miR-3913-3p	CLIP-seq
MIRT2623155	hsa-miR-3921	CLIP-seq
MIRT2623156	hsa-miR-3922-3p	CLIP-seq
MIRT2623157	hsa-miR-422a	CLIP-seq
MIRT2623158	hsa-miR-4286	CLIP-seq
MIRT2623159	hsa-miR-4292	CLIP-seq
MIRT2623160	hsa-miR-4297	CLIP-seq
MIRT2623161	hsa-miR-4308	CLIP-seq
MIRT2623162	hsa-miR-4430	CLIP-seq
MIRT2328627	hsa-miR-4435	CLIP-seq
MIRT2623163	hsa-miR-4436a	CLIP-seq
MIRT2623164	hsa-miR-4469	CLIP-seq
MIRT2623165	hsa-miR-4492	CLIP-seq
MIRT2623166	hsa-miR-4498	CLIP-seq
MIRT2623167	hsa-miR-4502	CLIP-seq
MIRT2623168	hsa-miR-4505	CLIP-seq
MIRT1352007	hsa-miR-4514	CLIP-seq
MIRT2623169	hsa-miR-4650-5p	CLIP-seq
MIRT2623170	hsa-miR-4651	CLIP-seq
MIRT2623171	hsa-miR-4653-5p	CLIP-seq
MIRT2623172	hsa-miR-4656	CLIP-seq
MIRT2623173	hsa-miR-4664-5p	CLIP-seq
MIRT2623174	hsa-miR-4667-3p	CLIP-seq
MIRT2623175	hsa-miR-4675	CLIP-seq
MIRT1352008	hsa-miR-4692	CLIP-seq
MIRT2623176	hsa-miR-4741	CLIP-seq
MIRT2623177	hsa-miR-4755-5p	CLIP-seq
MIRT2623178	hsa-miR-4794	CLIP-seq
MIRT2623179	hsa-miR-489	CLIP-seq
MIRT2623180	hsa-miR-593	CLIP-seq
MIRT2623181	hsa-miR-608	CLIP-seq
MIRT2623182	hsa-miR-623	CLIP-seq
MIRT2623183	hsa-miR-762	CLIP-seq
MIRT2623184	hsa-miR-942	CLIP-seq
MIRT2623130	hsa-miR-1205	CLIP-seq
MIRT2623131	hsa-miR-1207-3p	CLIP-seq
MIRT2623132	hsa-miR-1343	CLIP-seq
MIRT2623133	hsa-miR-1470	CLIP-seq
MIRT2623134	hsa-miR-1587	CLIP-seq
MIRT2623135	hsa-miR-204	CLIP-seq
MIRT2623136	hsa-miR-211	CLIP-seq
MIRT2623137	hsa-miR-3074-5p	CLIP-seq
MIRT2623138	hsa-miR-3121-3p	CLIP-seq
MIRT2623139	hsa-miR-3162-3p	CLIP-seq
MIRT2623140	hsa-miR-3176	CLIP-seq
MIRT2623141	hsa-miR-326	CLIP-seq
MIRT2623142	hsa-miR-330-5p	CLIP-seq
MIRT2623144	hsa-miR-3652	CLIP-seq
MIRT2623145	hsa-miR-378	CLIP-seq
MIRT2623146	hsa-miR-378b	CLIP-seq
MIRT2623147	hsa-miR-378c	CLIP-seq
MIRT2623148	hsa-miR-378d	CLIP-seq
MIRT2623149	hsa-miR-378e	CLIP-seq
MIRT2623150	hsa-miR-378f	CLIP-seq
MIRT2623151	hsa-miR-378g	CLIP-seq
MIRT2623152	hsa-miR-378h	CLIP-seq
MIRT2623153	hsa-miR-378i	CLIP-seq
MIRT2623154	hsa-miR-3913-3p	CLIP-seq
MIRT2623155	hsa-miR-3921	CLIP-seq
MIRT2623156	hsa-miR-3922-3p	CLIP-seq
MIRT2623157	hsa-miR-422a	CLIP-seq
MIRT2623158	hsa-miR-4286	CLIP-seq
MIRT2623159	hsa-miR-4292	CLIP-seq
MIRT2623160	hsa-miR-4297	CLIP-seq
MIRT2623161	hsa-miR-4308	CLIP-seq
MIRT2623162	hsa-miR-4430	CLIP-seq
MIRT2328627	hsa-miR-4435	CLIP-seq
MIRT2623163	hsa-miR-4436a	CLIP-seq
MIRT2623164	hsa-miR-4469	CLIP-seq
MIRT2623165	hsa-miR-4492	CLIP-seq
MIRT2623166	hsa-miR-4498	CLIP-seq
MIRT2623167	hsa-miR-4502	CLIP-seq
MIRT2623168	hsa-miR-4505	CLIP-seq
MIRT1352007	hsa-miR-4514	CLIP-seq
MIRT2623169	hsa-miR-4650-5p	CLIP-seq
MIRT2623171	hsa-miR-4653-5p	CLIP-seq
MIRT2623172	hsa-miR-4656	CLIP-seq
MIRT2623174	hsa-miR-4667-3p	CLIP-seq
MIRT2623175	hsa-miR-4675	CLIP-seq
MIRT1352008	hsa-miR-4692	CLIP-seq
MIRT2623176	hsa-miR-4741	CLIP-seq
MIRT2623177	hsa-miR-4755-5p	CLIP-seq
MIRT2623178	hsa-miR-4794	CLIP-seq
MIRT2623179	hsa-miR-489	CLIP-seq
MIRT2623180	hsa-miR-593	CLIP-seq
MIRT2623182	hsa-miR-623	CLIP-seq
MIRT2623183	hsa-miR-762	CLIP-seq
MIRT2623184	hsa-miR-942	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IDA	34031912
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8663127
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0006884	Process	Cell volume homeostasis	TAS	9516379
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0015379	Function	Potassium:chloride symporter activity	IBA
GO:0015379	Function	Potassium:chloride symporter activity	IDA	34031912
GO:0015379	Function	Potassium:chloride symporter activity	IEA
GO:0015379	Function	Potassium:chloride symporter activity	ISS
GO:0015379	Function	Potassium:chloride symporter activity	TAS	8663127
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8663127
GO:0019901	Function	Protein kinase binding	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0055064	Process	Chloride ion homeostasis	IBA
GO:0055064	Process	Chloride ion homeostasis	ISS
GO:0055075	Process	Potassium ion homeostasis	IBA
GO:0055075	Process	Potassium ion homeostasis	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	24393035
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

MIM	HGNC	e!Ensembl
604119	10913	ENSG00000124067

Q9UP95

Protein name

Solute carrier family 12 member 4 (Electroneutral potassium-chloride cotransporter 1) (Erythroid K-Cl cotransporter 1) (hKCC1)

Protein function

Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:35759661). May contribute to cell volume homeostasis in single cells (PubMed:10913127, PubMed:34031912). May be involved in the regulation of basolate

PDB

6KKR , 6KKT , 6KKU , 7AIP , 7AIQ , 7AIR , 7TTH , 7TTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00324	AA_permease	123 → 313	Amino acid permease	Family
PF00324	AA_permease	406 → 696	Amino acid permease	Family
PF03522	SLC12	708 → 833	Solute carrier family 12	Family
PF03522	SLC12	836 → 1085	Solute carrier family 12	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:8663127, PubMed:9516379). Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes (PubMed:9516379). This may contribute to red blood cell dehydration and to the ma

Sequence

MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHRESSPFLSPLEASRGID
YYDRNLALFEEELDIRPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGT
LMGVYLPCLQNIFGVILFLRLTWMVGTAGVLQALLIVLICCCCTLLTAISMSAIATNGVV
PAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILLTYIAPPAAIFYPSGA
HDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIF
DPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLN
NVTEIPGIPGAAAGVLQENLWSAYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSF
TVLVGIFFPSVTGIMAGSNRSGDLRDAQKSIPVGTILAIITTSLVYFSSVVLFGACIEGV
VLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIP
FLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQT
LLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKE
WGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKA
GKGLTIVGSVIQGSFLESYGEAQAAEQTIKNMMEIEKVKGFCQVVVASKVREGLAHLIQS
CGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLALLVPKNIAFYPSNHER
YLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLY
HLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSAL
RLESLYSDEEDESAVGADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMH
TAVKLNEVIVTRSHDARLVLLNMPGPPRNSEGDENYMEFLEVLTEGLERVLLVRGGGREV
ITIYS

Sequence length

1085

Interactions

View interactions

	Reactome
			Cation-coupled Chloride cotransporters

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 (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Anemia Sickle Cell	Associate	14976052	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Stimulate	18024369	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Associate	28315561, 29758034	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	21666489	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Associate	34590520	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC12A4 (solute carrier family 12 member 4)