The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] See more...

Aliases for SLC12A2 Gene

Aliases for SLC12A2 Gene

  • Solute Carrier Family 12 Member 2 2 3 4 5
  • Basolateral Na-K-Cl Symporter 2 3 4
  • NKCC1 2 3 4
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2 2 3
  • Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 1 2 3
  • Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 141 2 3
  • PPP1R141 2 3
  • BSC2 2 3
  • BSC 2 3
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 2 3
  • SLC12A2 5
  • KILQS 3

External Ids for SLC12A2 Gene

Previous GeneCards Identifiers for SLC12A2 Gene

  • GC05P126959
  • GC05P127855
  • GC05P127450
  • GC05P127495
  • GC05P127447
  • GC05P127419
  • GC05P122610

Summaries for SLC12A2 Gene

Entrez Gene Summary for SLC12A2 Gene

  • The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for SLC12A2 Gene

SLC12A2 (Solute Carrier Family 12 Member 2) is a Protein Coding gene. Diseases associated with SLC12A2 include Deafness, Autosomal Dominant 78 and Delpire-Mcneill Syndrome. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include cation:chloride symporter activity and sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A1.

UniProtKB/Swiss-Prot Summary for SLC12A2 Gene

  • Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane. Plays a vital role in the regulation of ionic balance and cell volume.

Tocris Summary for SLC12A2 Gene

  • Na+/K+/Cl- Symporters (NKCC) are membrane-bound channels that play a major role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation and possibly in cell cycle regulation. There are two NKCC isoforms: NKCC1 and NKCC2.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC12A2 Gene

Genomics for SLC12A2 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around SLC12A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC12A2

Top Transcription factor binding sites by QIAGEN in the SLC12A2 gene promoter:
  • AREB6
  • E47
  • GR
  • GR-alpha
  • LyF-1
  • MEF-2
  • MEF-2A
  • NF-1
  • NF-1/L
  • STAT5A

Genomic Locations for SLC12A2 Gene

Latest Assembly
chr5:128,083,766-128,189,677
(GRCh38/hg38)
Size:
105,912 bases
Orientation:
Plus strand

Previous Assembly
chr5:127,419,458-127,525,369
(GRCh37/hg19 by Entrez Gene)
Size:
105,912 bases
Orientation:
Plus strand

chr5:127,419,458-127,525,380
(GRCh37/hg19 by Ensembl)
Size:
105,923 bases
Orientation:
Plus strand

Genomic View for SLC12A2 Gene

Genes around SLC12A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC12A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A2 Gene

Proteins for SLC12A2 Gene

  • Protein details for SLC12A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55011-S12A2_HUMAN
    Recommended name:
    Solute carrier family 12 member 2
    Protein Accession:
    P55011
    Secondary Accessions:
    • Q8N713
    • Q8WWH7

    Protein attributes for SLC12A2 Gene

    Size:
    1212 amino acids
    Molecular mass:
    131447 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for SLC12A2 Gene

    Alternative splice isoforms for SLC12A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A2 Gene

Post-translational modifications for SLC12A2 Gene

  • Glycosylation at Asn553 and Asn562
  • Ubiquitination at Lys237 and Lys1007
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • S12A2_HUMAN (1761)

Other Protein References for SLC12A2 Gene

Antibodies for research

  • Abcam antibodies for SLC12A2
  • Boster Bio Antibodies for SLC12A2

No data available for DME Specific Peptides for SLC12A2 Gene

Domains & Families for SLC12A2 Gene

Gene Families for SLC12A2 Gene

Protein Domains for SLC12A2 Gene

InterPro:
Blocks:
  • Amino acid permease N-terminal
  • Na-K-Cl co-transporter family signature
  • Na-K-Cl co-transporter 1 signature

Suggested Antigen Peptide Sequences for SLC12A2 Gene

GenScript: Design optimal peptide antigens:
  • SLC12A2 protein (B7ZM24_HUMAN)
  • Solute carrier family 12 (Sodium/potassium/chloride transporters), member 2, isoform CRA_b (Q53ZR1_HUMAN)
  • Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1 (S12A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55011

UniProtKB/Swiss-Prot:

S12A2_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A2: view

Function for SLC12A2 Gene

Molecular function for SLC12A2 Gene

UniProtKB/Swiss-Prot Function:
Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane. Plays a vital role in the regulation of ionic balance and cell volume.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by bumetanide (PubMed:7629105, PubMed:32081947). Activated by WNK3 (PubMed:21613606).
GENATLAS Biochemistry:
solute carrier family 12 (sodium/potassium/chloride transport),member 2,170kDa,expressed in the basolateral membrane of secretory epithelia,muscle cells,neurons and red blood cells maybe involved in endolymph secretion

Phenotypes From GWAS Catalog for SLC12A2 Gene

Gene Ontology (GO) - Molecular Function for SLC12A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17721439
GO:0008511 sodium:potassium:chloride symporter activity TAS,IBA 21873635
GO:0008519 ammonium transmembrane transporter activity IDA 12946942
GO:0015079 potassium ion transmembrane transporter activity ISS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC12A2: view
genes like me logo Genes that share phenotypes with SLC12A2: view

Human Phenotype Ontology for SLC12A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC12A2 Gene

MGI Knock Outs for SLC12A2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC12A2 Gene

Localization for SLC12A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A2 Gene

Basolateral cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC12A2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC12A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7629105
GO:0009925 basal plasma membrane IDA 17478539
GO:0016020 membrane IEA,TAS 7629105
genes like me logo Genes that share ontologies with SLC12A2: view

Pathways & Interactions for SLC12A2 Gene

genes like me logo Genes that share pathways with SLC12A2: view

Pathways by source for SLC12A2 Gene

1 Qiagen pathway for SLC12A2 Gene
  • Aldosterone Signaling in Epithelial Cells
2 Cell Signaling Technology pathways for SLC12A2 Gene

SIGNOR curated interactions for SLC12A2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC12A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA,TAS --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006883 cellular sodium ion homeostasis ISS --
genes like me logo Genes that share ontologies with SLC12A2: view

Drugs & Compounds for SLC12A2 Gene

(18) Drugs for SLC12A2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bumetanide Approved Pharma Inhibitor, Inhibition, Target, blocker NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 30
Furosemide Approved, Vet_approved Pharma Inhibitor, Inhibition, blocker GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 288
Quinethazone Approved Pharma Target, inhibitor 0
piretanide Approved Pharma Inhibitor, Inhibition 0
Potassium bicarbonate Approved Pharma Transporter, substrate 0

(6) Additional Compounds for SLC12A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5

(2) Tocris Compounds for SLC12A2 Gene

Compound Action Cas Number
Bumetanide Na+/2Cl-/K+ (NKCC) symporter inhibitor 28395-03-1
Furosemide Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 54-31-9

(2) ApexBio Compounds for SLC12A2 Gene

Compound Action Cas Number
Bumetanide NKCC cotransporter inhibitor 28395-03-1
Furosemide GABAA receptors antagonist 54-31-9
genes like me logo Genes that share compounds with SLC12A2: view

Drug products for research

Transcripts for SLC12A2 Gene

mRNA/cDNA for SLC12A2 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC12A2

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2: -
SP3:

ExUns: 26a · 26b ^ 27a · 27b
SP1:
SP2: -
SP3:

Relevant External Links for SLC12A2 Gene

GeneLoc Exon Structure for
SLC12A2

Expression for SLC12A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC12A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC12A2 Gene

This gene is overexpressed in Nasal epithelium (26.2), Oral epithelium (8.6), and Spinal cord (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC12A2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC12A2

SOURCE GeneReport for Unigene cluster for SLC12A2 Gene:

Hs.162585

mRNA Expression by UniProt/SwissProt for SLC12A2 Gene:

P55011-S12A2_HUMAN
Tissue specificity: Expressed in many tissues.

Evidence on tissue expression from TISSUES for SLC12A2 Gene

  • Intestine(4.7)
  • Eye(4.5)
  • Nervous system(3.4)
  • Stomach(2.8)
  • Kidney(2.7)
  • Muscle(2.4)
  • Lung(2.3)
  • Blood(2.3)
  • Heart(2.3)
  • Skin(2.2)
  • Pancreas(2.2)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with SLC12A2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A2 Gene

Orthologs for SLC12A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC12A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC12A2 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC12A2 29 30
  • 94.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC12A2 29 30
  • 92.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc12a2 29 16 30
  • 89.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc12a2 29
  • 88.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC12A2 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 52 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves SLC12A2 29 30
  • 81.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC12A2 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc12a2 29
  • 74.98 (n)
Str.1570 29
Zebrafish
(Danio rerio)
Actinopterygii CABZ01084014.1 30
  • 80 (a)
OneToMany
SLC12A2 (4 of 4) 30
  • 70 (a)
OneToMany
slc12a2 29 30 30
  • 69.16 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7810 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ncc69 29 30
  • 55.24 (n)
ManyToMany
CG4357 31
  • 49 (a)
CG31547 30
  • 41 (a)
ManyToMany
EG:8D8.3 31
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001557 29
  • 52.91 (n)
Worm
(Caenorhabditis elegans)
Secernentea nkcc-1 30
  • 40 (a)
ManyToMany
F10E7.9 31
  • 28 (a)
B0303.11 30 31
  • 27 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 30
  • 22 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4740 29
Species where no ortholog for SLC12A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC12A2 Gene

ENSEMBL:
Gene Tree for SLC12A2 (if available)
TreeFam:
Gene Tree for SLC12A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC12A2: view image
Alliance of Genome Resources:
Additional Orthologs for SLC12A2

Paralogs for SLC12A2 Gene

Paralogs for SLC12A2 Gene

(4) SIMAP similar genes for SLC12A2 Gene using alignment to 4 proteins:

  • S12A2_HUMAN
  • B7ZM24_HUMAN
  • G3XAL9_HUMAN
  • Q53ZR1_HUMAN
genes like me logo Genes that share paralogs with SLC12A2: view

Variants for SLC12A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC12A2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1027650 Likely Pathogenic: Profound global developmental delay 128,150,007(+) T/TTAA
NM_001046.3(SLC12A2):c.2016_2017insTAA (p.Val673Ter)
NONSENSE,NON_CODING_TRANSCRIPT
972899 Pathogenic: Sensorineural hearing loss 128,177,137(+) C/T
NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
984662 Pathogenic: Kilquist syndrome 128,138,616(+) CT/C
NM_001046.3(SLC12A2):c.1431del (p.Phe477fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
984663 Pathogenic: Kilquist syndrome 128,149,996(+) G/A
NM_001046.3(SLC12A2):c.2006-1G>A
SPLICE_ACCEPTOR
984668 Pathogenic: Deafness, autosomal dominant 78 128,177,113(+) G/A
NM_001046.3(SLC12A2):c.2938G>A (p.Glu980Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC12A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC12A2 Gene

Variant ID Type Subtype PubMed ID
esv2672847 CNV deletion 23128226
nsv4993 CNV deletion 18451855
nsv830482 CNV gain 17160897

Variation tolerance for SLC12A2 Gene

Residual Variation Intolerance Score: 3.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC12A2 Gene

Human Gene Mutation Database (HGMD)
SLC12A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC12A2
Leiden Open Variation Database (LOVD)
SLC12A2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A2 Gene

Disorders for SLC12A2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SLC12A2 Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal dominant 78
  • dfna78
delpire-mcneill syndrome
  • delmnes
kilquist syndrome
  • kilqs
sensorineural hearing loss
  • central hearing loss
bartter disease
  • aldosteronism with hyperplasia of the adrenal cortex
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC12A2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC12A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC12A2 Gene

Publications for SLC12A2 Gene

  1. Quantitation of Na+-K+-2Cl- cotransport splice variants in human tissues using kinetic polymerase chain reaction. (PMID: 11700976) Vibat CR … O'Donnell ME (Analytical biochemistry 2001) 3 4 22
  2. Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. (PMID: 7629105) Payne JA … Forbush B (The Journal of biological chemistry 1995) 2 3 4
  3. Structure of the human cation-chloride cotransporter NKCC1 determined by single-particle electron cryo-microscopy. (PMID: 32081947) Yang X … Cao E (Nature communications 2020) 3 4
  4. SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. (PMID: 32658972) McNeill A … Delpire E (Brain : a journal of neurology 2020) 3 72
  5. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. (PMID: 32294086) Mutai H … Matsunaga T (PLoS genetics 2020) 3 72

Products for SLC12A2 Gene

Sources for SLC12A2 Gene