Format

Send to:

Choose Destination

SLC12A8 solute carrier family 12 member 8 [ Homo sapiens (human) ]

Gene ID: 84561, updated on 7-Jun-2020

Summary

Official Symbol
SLC12A8provided by HGNC
Official Full Name
solute carrier family 12 member 8provided by HGNC
Primary source
HGNC:HGNC:15595
See related
Ensembl:ENSG00000221955 MIM:611316
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCC9
Summary
This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]
Expression
Broad expression in thyroid (RPKM 11.6), gall bladder (RPKM 6.0) and 17 other tissues See more
Orthologs

Genomic context

See SLC12A8 in Genome Data Viewer
Location:
3q21.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (125082644..125212748, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124801480..124931609, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene heart development protein with EGF like domains 1 Neighboring gene Sharpr-MPRA regulatory region 1791 Neighboring gene RNA, 5S ribosomal pseudogene 137 Neighboring gene RNA, U6 small nuclear 230, pseudogene Neighboring gene microRNA 5092 Neighboring gene zinc finger protein 148 Neighboring gene deoxyuridine triphosphatase pseudogene 1 Neighboring gene DNAJB6 pseudogene 7

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ZNF148

Homology

Clone Names

  • FLJ23188, DKFZp686L18248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 12 member 8
Names
cation-chloride cotransporter 9
solute carrier family 12 (sodium/potassium/chloride transporters), member 8

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_027706.1 RefSeqGene

    Range
    5001..135130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195483.2NP_001182412.2  solute carrier family 12 member 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC055752, AC108688, AC117488, KF459585
    Consensus CDS
    CCDS43143.1
    Related
    ENSP00000377112.4, ENST00000393469.8
  2. NM_024628.6NP_078904.4  solute carrier family 12 member 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC055752, AC108688, AC117488, KF459585
    Consensus CDS
    CCDS43143.1
    Related
    ENSP00000418783.1, ENST00000469902.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    125082644..125212748 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center