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SLC12A9 solute carrier family 12 member 9 [ Homo sapiens (human) ]

Gene ID: 56996, updated on 5-Aug-2022

Summary

Official Symbol
SLC12A9provided by HGNC
Official Full Name
solute carrier family 12 member 9provided by HGNC
Primary source
HGNC:HGNC:17435
See related
Ensembl:ENSG00000146828 MIM:616861; AllianceGenome:HGNC:17435
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
CCC6; CIP1; WO3.3; hCCC6
Summary
Predicted to enable potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 13.3), spleen (RPKM 11.5) and 25 other tissues See more
Orthologs
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Genomic context

See SLC12A9 in Genome Data Viewer
Location:
7q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100826869..100867012)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102066955..102107112)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100424491..100464634)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9506 Neighboring gene EPH receptor B4 Neighboring gene RNA, 7SL, cytoplasmic 750, pseudogene Neighboring gene SLC12A9 antisense RNA 1 Neighboring gene microRNA 6875 Neighboring gene thyroid hormone receptor interactor 6 Neighboring gene serrate, RNA effector molecule

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analysis identifies multiple loci related to resting heart rate.
EBI GWAS Catalog
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
EBI GWAS Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46905

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cation:chloride symporter activity TAS
Traceable Author Statement
more info
PubMed 
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 12 member 9
Names
CCC-interacting protein 1
cation-chloride cotransporter 6
cation-chloride cotransporter-interacting protein 1
potassium-chloride transporter 9
solute carrier family 12 (potassium/chloride transporters), member 9

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)

  1. NM_001267812.2NP_001254741.1  solute carrier family 12 member 9 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011895
    Consensus CDS
    CCDS59068.1
    UniProtKB/Swiss-Prot
    Q9BXP2
    Related
    ENSP00000443702.1, ENST00000540482.5
    Conserved Domains (2) summary
    pfam00324
    Location:42535
    AA_permease; Amino acid permease
    pfam03522
    Location:546619
    SLC12; Solute carrier family 12
  2. NM_001267814.2NP_001254743.1  solute carrier family 12 member 9 isoform 3

    See identical proteins and their annotated locations for NP_001254743.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and lacks two consecutive exons in the 5' coding region and differs in the 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011895
    Consensus CDS
    CCDS59069.1
    UniProtKB/Swiss-Prot
    Q9BXP2
    Related
    ENSP00000413796.1, ENST00000415287.5
    Conserved Domains (1) summary
    cl27256
    Location:140530
    SLC12; Solute carrier family 12
  3. NM_001363493.2NP_001350422.1  solute carrier family 12 member 9 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AA825567, AB033284, AF284422, AK024494, HY053006
    Consensus CDS
    CCDS5707.1
    UniProtKB/Swiss-Prot
    Q9NQR5
    Conserved Domains (1) summary
    cl27256
    Location:36905
    SLC12; Solute carrier family 12
  4. NM_001363494.1NP_001350423.1  solute carrier family 12 member 9 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC011895
    Conserved Domains (1) summary
    cl27256
    Location:86762
    SLC12; Solute carrier family 12
  5. NM_020246.4NP_064631.2  solute carrier family 12 member 9 isoform 1

    See identical proteins and their annotated locations for NP_064631.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC011895
    Consensus CDS
    CCDS5707.1
    UniProtKB/Swiss-Prot
    Q9BXP2, Q9NQR5
    UniProtKB/TrEMBL
    Q9H7I6
    Related
    ENSP00000275730.4, ENST00000354161.8
    Conserved Domains (1) summary
    cl27256
    Location:36905
    SLC12; Solute carrier family 12

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100826869..100867012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420627.1XP_047276583.1  solute carrier family 12 member 9 isoform X1

    UniProtKB/Swiss-Prot
    Q9NQR5
  2. XM_047420628.1XP_047276584.1  solute carrier family 12 member 9 isoform X1

    UniProtKB/Swiss-Prot
    Q9NQR5
  3. XM_047420632.1XP_047276588.1  solute carrier family 12 member 9 isoform X4

  4. XM_047420629.1XP_047276585.1  solute carrier family 12 member 9 isoform X2

  5. XM_047420631.1XP_047276587.1  solute carrier family 12 member 9 isoform X3

  6. XM_047420626.1XP_047276582.1  solute carrier family 12 member 9 isoform X1

    UniProtKB/Swiss-Prot
    Q9NQR5
  7. XM_047420630.1XP_047276586.1  solute carrier family 12 member 9 isoform X2

  8. XM_047420633.1XP_047276589.1  solute carrier family 12 member 9 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    102066955..102107112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)