SLC9C2 Gene (Protein Coding)

Solute Carrier Family 9 Member C2 (Putative)

GC01M173500
GIFtS:
30
See more...

Aliases for SLC9C2 Gene

Aliases for SLC9C2 Gene

  • Solute Carrier Family 9 Member C2 (Putative) 2 3 5
  • Solute Carrier Family 9, Member 11 2 3
  • Sodium/Hydrogen Exchanger 11 3 4
  • Na(+)/H(+) Exchanger 11 3 4
  • SLC9A11 3 4
  • NHE-11 3 4
  • Solute Carrier Family 9, Isoform 11 2
  • Solute Carrier Family 9, Member C2 2
  • Solute Carrier Family 9 Member 11 4
  • Solute Carrier Family 9 Member C2 4
  • MGC43026 2
  • SLC9C2 5

External Ids for SLC9C2 Gene

Previous HGNC Symbols for SLC9C2 Gene

  • SLC9A11

Previous GeneCards Identifiers for SLC9C2 Gene

  • GC01M173470

Summaries for SLC9C2 Gene

GeneCards Summary for SLC9C2 Gene

SLC9C2 (Solute Carrier Family 9 Member C2 (Putative)) is a Protein Coding gene. Diseases associated with SLC9C2 include Lichtenstein-Knorr Syndrome and Cyclothymic Disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity. An important paralog of this gene is SLC9C1.

UniProtKB/Swiss-Prot Summary for SLC9C2 Gene

Gene Wiki entry for SLC9C2 Gene

Additional gene information for SLC9C2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9C2 Gene

Genomics for SLC9C2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

GeneHancers around SLC9C2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9C2

Genomic Locations for SLC9C2 Gene

Latest Assembly
chr1:173,500,460-173,603,072
(GRCh38/hg38)
Size:
102,613 bases
Orientation:
Minus strand

Previous Assembly
chr1:173,469,599-173,572,211
(GRCh37/hg19 by Entrez Gene)
Size:
102,613 bases
Orientation:
Minus strand

chr1:173,469,603-173,572,233
(GRCh37/hg19 by Ensembl)
Size:
102,631 bases
Orientation:
Minus strand

Genomic View for SLC9C2 Gene

Genes around SLC9C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9C2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC9C2 Gene

Proteins for SLC9C2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SLC9C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TAH2-SL9C2_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 11
    Protein Accession:
    Q5TAH2
    Secondary Accessions:
    • Q86UF3

    Protein attributes for SLC9C2 Gene

    Size:
    1124 amino acids
    Molecular mass:
    129053 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC9C2 Gene

Post-translational modifications for SLC9C2 Gene

  • Glycosylation at Asn447 and Asn473
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC9C2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC9C2 Gene

Domains & Families for SLC9C2 Gene

Gene Families for SLC9C2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC9C2 Gene

InterPro:
Blocks:
  • Cyclic nucleotide-binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9C2 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 9 member 11 (S9A11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TAH2

UniProtKB/Swiss-Prot:

SL9C2_HUMAN :
  • Contains an ion transport-like region is related to the membrane segments of voltage-gated ion channels.
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
Domain:
  • Contains an ion transport-like region is related to the membrane segments of voltage-gated ion channels.
Family:
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
genes like me logo Genes that share domains with SLC9C2: view

Function for SLC9C2 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SLC9C2 Gene

UniProtKB/Swiss-Prot Function:
Involved in pH regulation.

Phenotypes From GWAS Catalog for SLC9C2 Gene

Gene Ontology (GO) - Molecular Function for SLC9C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0015385 sodium:proton antiporter activity IBA 21873635
GO:0015386 potassium:proton antiporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC9C2: view
genes like me logo Genes that share phenotypes with SLC9C2: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9C2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC9C2 Gene

Localization for SLC9C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9C2 Gene

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 SLC9C2 gene
Compartment Confidence
plasma membrane 4

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SLC9C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9C2: view

Pathways & Interactions for SLC9C2 Gene

genes like me logo Genes that share pathways with SLC9C2: view

Pathways by source for SLC9C2 Gene

Gene Ontology (GO) - Biological Process for SLC9C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0051453 regulation of intracellular pH IBA 21873635
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC9C2: view

No data available for SIGNOR curated interactions for SLC9C2 Gene

Drugs & Compounds for SLC9C2 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for SLC9C2 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SLC9C2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 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 SLC9C2

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9C2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: -
SP3: - -
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
SP1:
SP2:
SP3:
SP4:

Relevant External Links for SLC9C2 Gene

GeneLoc Exon Structure for
SLC9C2

Expression for SLC9C2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9C2 Gene

mRNA expression in normal human tissues for SLC9C2 Gene
mRNA expression by GTEx for SLC9C2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for SLC9C2 Gene

This gene is overexpressed in Testis (x20.6) and Brain - Caudate (basal ganglia) (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9C2

SOURCE GeneReport for Unigene cluster for SLC9C2 Gene:

Hs.494981
genes like me logo Genes that share expression patterns with SLC9C2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9C2 Gene

Orthologs for SLC9C2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC9C2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC9C2 30 31
  • 99.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC9C2 30 31
  • 83.54 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC9C2 30 31
  • 83.41 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc9c2 30
  • 76.29 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 57 (a)
 OneToMany
-- 31
  • 55 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC9C2 31
  • 52 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 33 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 22 (a)
 ManyToMany
-- 31
  • 21 (a)
 ManyToMany
Species where no ortholog for SLC9C2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SLC9C2 Gene

ENSEMBL:
Gene Tree for SLC9C2 (if available)
TreeFam:
Gene Tree for SLC9C2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9C2: view image

Paralogs for SLC9C2 Gene

Paralogs for SLC9C2 Gene

(2) SIMAP similar genes for SLC9C2 Gene using alignment to 2 proteins:

  • SL9C2_HUMAN
  • F5H342_HUMAN
genes like me logo Genes that share paralogs with SLC9C2: view

Variants for SLC9C2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9C2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs145922237 Benign: not provided 173,557,345(-) G/T
NM_178527.4(SLC9C2):c.1210C>A (p.Gln404Lys) 		MISSENSE
rs16846206 - p.Ala505Gly
rs17854214 - p.Arg934Ser
rs7551131 - p.Thr481Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC9C2 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 SLC9C2 Gene

Variant ID Type Subtype PubMed ID
esv3587945 CNV loss 21293372
esv3587946 CNV loss 21293372
nsv831915 CNV gain+loss 17160897

Variation tolerance for SLC9C2 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.96; 87.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9C2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9C2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9C2 Gene

Disorders for SLC9C2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC9C2 Gene - From: COP

Disorder Aliases PubMed IDs
lichtenstein-knorr syndrome
  • likns
cyclothymic disorder
  • affective personality disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9C2

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 SLC9C2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9C2 Gene

Publications for SLC9C2 Gene

  1. Traditional and emerging roles for the SLC9 Na+/H+ exchangers. (PMID: 24337822) Fuster DG … Alexander RT (Pflugers Archiv : European journal of physiology 2014) 2 3
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

ExternalLinks

View latest publications for SLC9C2 gene in Mastermind

Products for SLC9C2 Gene

Sources for SLC9C2 Gene