SLC12A7 solute carrier family 12 member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC12A7provided by HGNC
Official Full Name: solute carrier family 12 member 7provided by HGNC
Primary source: HGNC:HGNC:10915
See related: Ensembl:ENSG00000113504 MIM:604879; AllianceGenome:HGNC:10915
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KCC4
Summary: Enables protein kinase binding activity. Predicted to be involved in several processes, including cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 14.3), kidney (RPKM 13.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (1050384..1155899, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (955618..1061601, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (1050499..1112178, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
Title: SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
The IGF1 gene was amplified in 9 of 19 ACC samples, similar to findings in The Cancer Genome Atlas database. The IGF1 overexpression was observed in 5 samples and was associated with SLC12A7 overexpression and non-functional, early-stage tumors (p < 0.05). endogenous overexpression and silencing of SLC12A7 significantly altered IGF1 and IGF1R expression without impacting other IGFs.
Title: Insulin-Like Growth Factor and SLC12A7 Dysregulation: A Novel Signaling Hallmark of Non-Functional Adrenocortical Carcinoma.
SLC12A7 alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior
Title: SLC12A7 alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior.
SLC12A7 gene amplification and overexpression occurs frequently in adrenocortical carcinoma and may play a role in adrenocortical carcinoma tumorigenesis.
Title: DNA copy amplification and overexpression of SLC12A7 in adrenocortical carcinoma.
The Wnk3 protein isoforms have a similar effect on SLC12 cotransporters. NKCC1/2 and NCC were inhibited, even in hypertonicity, while KCCs were activated, even in isotonic conditions.
Title: Similar effects of all WNK3 variants on SLC12 cotransporters.
KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity
Title: K-Cl cotransporter gene expression during human and murine erythroid differentiation.
Negative stain transmission electron microscopy and single particle analysis of KCC4 and the aquaporin-1 AQP1 water channel, revealed the expected quaternary structures within homogeneous preparations, and thus correct protein folding and assembly.
Title: Frog oocytes to unveil the structure and supramolecular organization of human transport proteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
analysis of differences in large extracellular loop between the K(+)-Cl(-) cotransporters KCC2 and KCC4
Title: Differences in the large extracellular loop between the K(+)-Cl(-) cotransporters KCC2 and KCC4.
In the metastatic cancer tissues, KCC4 colocalizes with IGF-I or EGF.
Title: Motor protein-dependent membrane trafficking of KCl cotransporter-4 is important for cancer cell invasion.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ammonium transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium:chloride symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium:chloride symporter activity	TAS Traceable Author Statement more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ammonium import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell volume homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: solute carrier family 12 member 7

Names: K-Cl cotransporter 4; SUCO/SLC12A7 fusion; electroneutral potassium-chloride cotransporter 4; potassium/chloride transporter KCC4; solute carrier family 12 (potassium/chloride transporter), member 7; solute carrier family 12 (potassium/chloride transporters), member 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006598.3 → NP_006589.2 solute carrier family 12 member 7

See identical proteins and their annotated locations for NP_006589.2

Status: VALIDATED

Source sequence(s)

AC116351, AF105365, AK024497, BC098390, BU953746, DB451347

Consensus CDS

CCDS34129.1

UniProtKB/Swiss-Prot

A6NDS8, Q4G0F3, Q96I81, Q9H7I3, Q9H7I7, Q9UFW2, Q9Y666

UniProtKB/TrEMBL

A0A0G2JNW7

Related

ENSP00000264930.5, ENST00000264930.10

Conserved Domains (2) summary

TIGR00930
Location:45 → 1083

2a30; K-Cl cotransporter

pfam03522
Location:709 → 1083

SLC12; Solute carrier family 12

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

1050384..1155899 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513941.3 → XP_011512243.2 solute carrier family 12 member 7 isoform X2

UniProtKB/TrEMBL

A0A0G2JNW7
XM_005248231.4 → XP_005248288.1 solute carrier family 12 member 7 isoform X1

UniProtKB/TrEMBL

A0A0G2JNW7

Conserved Domains (2) summary

TIGR00930
Location:45 → 1088

2a30; K-Cl cotransporter

pfam03522
Location:709 → 1088

SLC12; Solute carrier family 12
XM_047416640.1 → XP_047272596.1 solute carrier family 12 member 7 isoform X5

Related

ENSP00000489285.1, ENST00000634447.1
XM_017008958.2 → XP_016864447.1 solute carrier family 12 member 7 isoform X5

UniProtKB/TrEMBL

A0A0U1RR18

Conserved Domains (2) summary

TIGR00930
Location:1 → 1020

2a30; K-Cl cotransporter

pfam03522
Location:641 → 1020

SLC12; Solute carrier family 12
XM_011513939.4 → XP_011512241.1 solute carrier family 12 member 7 isoform X3

UniProtKB/TrEMBL

A0A0G2JNW7

Conserved Domains (2) summary

TIGR00930
Location:42 → 1085

2a30; K-Cl cotransporter

pfam03522
Location:706 → 1085

SLC12; Solute carrier family 12
XM_011513940.3 → XP_011512242.1 solute carrier family 12 member 7 isoform X4

UniProtKB/TrEMBL

A0A0G2JNW7

Conserved Domains (2) summary

TIGR00930
Location:31 → 1074

2a30; K-Cl cotransporter

pfam03522
Location:695 → 1074

SLC12; Solute carrier family 12