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Protein

Solute carrier family 12 member 8

Gene

SLC12A8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • potassium:chloride symporter activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Potassium transport, Symport, Transport
LigandChloride, Potassium

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.30.1.7 the cation-chloride cotransporter (ccc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Solute carrier family 12 member 8
Alternative name(s):
Cation-chloride cotransporter 9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC12A8
Synonyms:CCC9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000221955.10

Human Gene Nomenclature Database

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HGNCi
HGNC:15595 SLC12A8

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611316 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A0AV02

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei37 – 60HelicalSequence analysisAdd BLAST24
Transmembranei72 – 93HelicalSequence analysisAdd BLAST22
Transmembranei99 – 116HelicalSequence analysisAdd BLAST18
Transmembranei123 – 142HelicalSequence analysisAdd BLAST20
Transmembranei154 – 173HelicalSequence analysisAdd BLAST20
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21
Transmembranei233 – 254HelicalSequence analysisAdd BLAST22
Transmembranei266 – 289HelicalSequence analysisAdd BLAST24
Transmembranei309 – 331HelicalSequence analysisAdd BLAST23
Transmembranei360 – 377HelicalSequence analysisAdd BLAST18
Transmembranei383 – 403HelicalSequence analysisAdd BLAST21
Transmembranei593 – 616HelicalSequence analysisAdd BLAST24
Transmembranei622 – 643HelicalSequence analysisAdd BLAST22

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5).

Organism-specific databases

DisGeNET

More...
DisGeNETi
84561

Open Targets

More...
OpenTargetsi
ENSG00000221955

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37991

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC12A8

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003052871 – 714Solute carrier family 12 member 8Add BLAST714

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi221N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
A0AV02

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
A0AV02

PRoteomics IDEntifications database

More...
PRIDEi
A0AV02

ProteomicsDB human proteome resource

More...
ProteomicsDBi
10 [A0AV02-2]
11 [A0AV02-3]
12 [A0AV02-4]
13 [A0AV02-5]
9

Consortium for Top Down Proteomics

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TopDownProteomicsi
A0AV02-3 [A0AV02-3]
A0AV02-5 [A0AV02-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
A0AV02

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
A0AV02

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous with very low level in normal skin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000221955 Expressed in 155 organ(s), highest expression level in right lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
A0AV02 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
A0AV02 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA031123

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124140, 1 interactor

Protein interaction database and analysis system

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IntActi
A0AV02, 2 interactors

Molecular INTeraction database

More...
MINTi
A0AV02

STRING: functional protein association networks

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STRINGi
9606.ENSP00000377112

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
A0AV02

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2083 Eukaryota
COG0531 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160130

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108430

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
A0AV02

KEGG Orthology (KO)

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KOi
K14428

Identification of Orthologs from Complete Genome Data

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OMAi
CNRWFSL

Database of Orthologous Groups

More...
OrthoDBi
792706at2759

TreeFam database of animal gene trees

More...
TreeFami
TF313191

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004841 AA-permease/SLC12A_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00324 AA_permease, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A0AV02-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM
60 70 80 90 100
INIFGVVLFL RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS
110 120 130 140 150
IGSGGVYSMI SSVLGGQTGG TIGLLYVFGQ CVAGAMYITG FAESISDLLG
160 170 180 190 200
LGNIWAVRGI SVAVLLALLG INLAGVKWII RLQLLLLFLL AVSTLDFVVG
210 220 230 240 250
SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF FPAATGVMAG
260 270 280 290 300
FNMGGDLREP AASIPLGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL
310 320 330 340 350
IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL
360 370 380 390 400
GQGKGPNKTP VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY
410 420 430 440 450
SYFSLSMCSC SLTPVPEPVL REGAEGLHCS EHLLLEKAPS YGSEGPAQRV
460 470 480 490 500
LEGTLLEFTK DMDQLLQLTR KLESSQPRQG EGNRTPESQK RKSKKATKQT
510 520 530 540 550
LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS KSEGTQPEGT
560 570 580 590 600
YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL
610 620 630 640 650
GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR
660 670 680 690 700
WMRSLLLPSC RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH
710
HSSLVNREQL MPHY
Length:714
Mass (Da):78,239
Last modified:May 27, 2015 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCE7669E9758EF00D
GO
Isoform 2 (identifier: A0AV02-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MTQMSQVQELFHEAAQQ → MLPLERTITYRDMSSFIQVKNHFNVVNVTCVSYRSTCFRDMRRFIL

Note: No experimental confirmation available.
Show »
Length:743
Mass (Da):81,822
Checksum:i420D387CDFADA24E
GO
Isoform 3 (identifier: A0AV02-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-199: Missing.
     200-245: GSFTHLDPEH...VFGVFFPAAT → MRRAAAGGLA...SPHSPSGCLS

Note: No experimental confirmation available.
Show »
Length:515
Mass (Da):56,176
Checksum:i340D0E6B609D2C06
GO
Isoform 4 (identifier: A0AV02-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.
     569-661: DFFLKSRLQE...MRSLLLPSCR → G

Note: No experimental confirmation available.
Show »
Length:375
Mass (Da):41,075
Checksum:iC1C5A06109382EB5
GO
Isoform 5 (identifier: A0AV02-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-406: Missing.

Note: No experimental confirmation available.
Show »
Length:308
Mass (Da):34,799
Checksum:iAF232C6971B2A80C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZN2C9IZN2_HUMAN
Solute carrier family 12 member 8
SLC12A8
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5B1H7C5B1_HUMAN
Solute carrier family 12 member 8
SLC12A8
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5L2H7C5L2_HUMAN
Solute carrier family 12 member 8
SLC12A8
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH20506 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH63528 differs from that shown. Reason: Frameshift at position 569.Curated
The sequence AAH63528 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAK94307 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAM73657 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD97969 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti111S → P in CAH18426 (PubMed:17974005).Curated1
Sequence conflicti319S → P in AAM73657 (PubMed:11863360).Curated1
Sequence conflicti433L → P in CAG33644 (PubMed:15489334).Curated1
Sequence conflicti481E → D in BAB15571 (PubMed:14702039).Curated1
Sequence conflicti512P → L in CAH18426 (PubMed:17974005).Curated1
Sequence conflicti555L → P in CAD97969 (PubMed:17974005).Curated1
Sequence conflicti698R → H in AAO49174 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_035199181R → C1 PublicationCorresponds to variant dbSNP:rs2993631Ensembl.1
Natural variantiVAR_035200266L → P. Corresponds to variant dbSNP:rs863642Ensembl.1
Natural variantiVAR_062148281I → V3 PublicationsCorresponds to variant dbSNP:rs621383Ensembl.1
Natural variantiVAR_035201541K → R. Corresponds to variant dbSNP:rs6773138Ensembl.1
Natural variantiVAR_035202664R → Q1 PublicationCorresponds to variant dbSNP:rs2981482Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0283271 – 406Missing in isoform 5. 1 PublicationAdd BLAST406
Alternative sequenceiVSP_0283281 – 247Missing in isoform 4. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_0283291 – 199Missing in isoform 3. 1 PublicationAdd BLAST199
Alternative sequenceiVSP_0283301 – 17MTQMS…EAAQQ → MLPLERTITYRDMSSFIQVK NHFNVVNVTCVSYRSTCFRD MRRFIL in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_028331200 – 245GSFTH…FPAAT → MRRAAAGGLAVGQLPGEGPA GEEGAALGKAMRGGGCSPHS PSGCLS in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_028332569 – 661DFFLK…LPSCR → G in isoform 4. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF389851 Genomic DNA Translation: AAK94307.1 Sequence problems.
AF390442 mRNA Translation: AAM73657.1 Different initiation.
AF345197 mRNA Translation: AAO49174.1
AK026841 mRNA Translation: BAB15571.1
BX538023 mRNA Translation: CAD97969.1 Different initiation.
CR749632 mRNA Translation: CAH18426.1
AC055752 Genomic DNA No translation available.
AC108688 Genomic DNA No translation available.
AC117488 Genomic DNA No translation available.
BC020506 mRNA Translation: AAH20506.1 Different initiation.
BC063528 mRNA Translation: AAH63528.1 Sequence problems.
BC126158 mRNA Translation: AAI26159.1
BC126160 mRNA Translation: AAI26161.1
CR457363 mRNA Translation: CAG33644.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43143.1 [A0AV02-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001182412.1, NM_001195483.1
NP_078904.3, NM_024628.5

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.658514

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000393469; ENSP00000377112; ENSG00000221955 [A0AV02-1]
ENST00000430155; ENSP00000415713; ENSG00000221955 [A0AV02-3]
ENST00000469902; ENSP00000418783; ENSG00000221955 [A0AV02-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84561

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84561

UCSC genome browser

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UCSCi
uc003eht.4 human [A0AV02-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF389851 Genomic DNA Translation: AAK94307.1 Sequence problems.
AF390442 mRNA Translation: AAM73657.1 Different initiation.
AF345197 mRNA Translation: AAO49174.1
AK026841 mRNA Translation: BAB15571.1
BX538023 mRNA Translation: CAD97969.1 Different initiation.
CR749632 mRNA Translation: CAH18426.1
AC055752 Genomic DNA No translation available.
AC108688 Genomic DNA No translation available.
AC117488 Genomic DNA No translation available.
BC020506 mRNA Translation: AAH20506.1 Different initiation.
BC063528 mRNA Translation: AAH63528.1 Sequence problems.
BC126158 mRNA Translation: AAI26159.1
BC126160 mRNA Translation: AAI26161.1
CR457363 mRNA Translation: CAG33644.1
CCDSiCCDS43143.1 [A0AV02-1]
RefSeqiNP_001182412.1, NM_001195483.1
NP_078904.3, NM_024628.5
UniGeneiHs.658514

3D structure databases

ProteinModelPortaliA0AV02
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124140, 1 interactor
IntActiA0AV02, 2 interactors
MINTiA0AV02
STRINGi9606.ENSP00000377112

Protein family/group databases

TCDBi2.A.30.1.7 the cation-chloride cotransporter (ccc) family

PTM databases

iPTMnetiA0AV02
PhosphoSitePlusiA0AV02

Polymorphism and mutation databases

BioMutaiSLC12A8

Proteomic databases

jPOSTiA0AV02
PaxDbiA0AV02
PRIDEiA0AV02
ProteomicsDBi10 [A0AV02-2]
11 [A0AV02-3]
12 [A0AV02-4]
13 [A0AV02-5]
9
TopDownProteomicsiA0AV02-3 [A0AV02-3]
A0AV02-5 [A0AV02-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
84561
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393469; ENSP00000377112; ENSG00000221955 [A0AV02-1]
ENST00000430155; ENSP00000415713; ENSG00000221955 [A0AV02-3]
ENST00000469902; ENSP00000418783; ENSG00000221955 [A0AV02-1]
GeneIDi84561
KEGGihsa:84561
UCSCiuc003eht.4 human [A0AV02-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84561
DisGeNETi84561
EuPathDBiHostDB:ENSG00000221955.10

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC12A8
HGNCiHGNC:15595 SLC12A8
HPAiHPA031123
MIMi611316 gene
neXtProtiNX_A0AV02
OpenTargetsiENSG00000221955
PharmGKBiPA37991

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2083 Eukaryota
COG0531 LUCA
GeneTreeiENSGT00940000160130
HOVERGENiHBG108430
InParanoidiA0AV02
KOiK14428
OMAiCNRWFSL
OrthoDBi792706at2759
TreeFamiTF313191

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC12A8 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC12A8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84561

Protein Ontology

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PROi
PR:A0AV02

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000221955 Expressed in 155 organ(s), highest expression level in right lobe of thyroid gland
ExpressionAtlasiA0AV02 baseline and differential
GenevisibleiA0AV02 HS

Family and domain databases

InterProiView protein in InterPro
IPR004841 AA-permease/SLC12A_dom
PfamiView protein in Pfam
PF00324 AA_permease, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS12A8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: A0AV02
Secondary accession number(s): C9JJJ2
, Q68D04, Q6I9Z2, Q6P4C0, Q7Z3A6, Q86WK0, Q8NFX9, Q8WUI3, Q96RF9, Q9H5P9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 27, 2015
Last modified: January 16, 2019
This is version 94 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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