The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] See more...

Aliases for SLC4A9 Gene

Aliases for SLC4A9 Gene

  • Solute Carrier Family 4 Member 9 2 3 4 5
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 9 2 3
  • Sodium Bicarbonate Cotransporter 5 3 4
  • Anion Exchange Protein 4 3 4
  • Anion Exchanger 4 3 4
  • AE4 3 4
  • AE 4 4
  • SBC5 4

External Ids for SLC4A9 Gene

Previous GeneCards Identifiers for SLC4A9 Gene

  • GC05P139556
  • GC05P140322
  • GC05P139722
  • GC05P139768
  • GC05P139719
  • GC05P134884
  • GC05P140464
  • GC05P140469
  • GC05P142380
  • GC05P142486
  • GC05P142594
  • GC05P140477
  • GC05P140486
  • GC05P140492
  • GC05P140500
  • GC05P140506
  • GC05P140519
  • GC05P140523
  • GC05P142291

Summaries for SLC4A9 Gene

Entrez Gene Summary for SLC4A9 Gene

  • The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for SLC4A9 Gene

SLC4A9 (Solute Carrier Family 4 Member 9) is a Protein Coding gene. Diseases associated with SLC4A9 include Apocrine Adenoma and Cataract 14, Multiple Types. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and anion transmembrane transporter activity. An important paralog of this gene is SLC4A4.

UniProtKB/Swiss-Prot Summary for SLC4A9 Gene

Additional gene information for SLC4A9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC4A9 Gene

Genomics for SLC4A9 Gene

GeneHancer (GH) Regulatory Elements for SLC4A9 Gene

Promoters and enhancers for SLC4A9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140357 Promoter/Enhancer 1.2 Ensembl ENCODE 500.7 -0.8 -812 1 ZNF217 CTCF JUND REST CUX1 CTBP1 RAD21 TRIM22 TEAD1 SMC3 ENSG00000253965 SLC4A9 HBEGF RF00017-4947
GH05J140360 Promoter 0.4 EPDnew 500.7 +1.6 1617 0.1 REST SLC4A9 lnc-SLC4A9-1 RF00017-4947
GH05J140301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -56.0 -55958 2.8 ZNF217 TCF12 NRF1 POLR2G GTF2E2 PHF8 ZNF10 POLR2A AFF1 ZNF510 PFDN1 lnc-CYSTM1-4 CYSTM1 HBEGF ENSG00000253965 SLC4A9 EIF4EBP3 SLC35A4 lnc-HBEGF-4
GH05J140250 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -102.2 -102159 14 FOXK2 ZNF300 JUND FOS TEAD4 ZNF639 ZNF10 ZIC2 REST POLR2A PFDN1 APBB3 HBEGF PURA CD14 PCDHB18P HARS2 MATR3 IGIP PCDHB19P
GH05J140309 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.4 -46.5 -46549 4.7 JUND FOS ZBTB5 MYC EP300 JUN HINFP ATF2 ZNF316 MAFF PFDN1 HBEGF ENSG00000253965 SLC4A9 CYSTM1 APBB3 RF00017-4947 lnc-PFDN1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC4A9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC4A9

Top Transcription factor binding sites by QIAGEN in the SLC4A9 gene promoter:
  • CREB
  • ER-alpha
  • FOXC1
  • GATA-2
  • NF-kappaB1
  • Nkx2-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A

Genomic Locations for SLC4A9 Gene

Genomic Locations for SLC4A9 Gene
chr5:140,358,559-140,375,141
(GRCh38/hg38)
Size:
16,583 bases
Orientation:
Plus strand
chr5:139,739,787-139,754,728
(GRCh37/hg19)
Size:
14,942 bases
Orientation:
Plus strand

Genomic View for SLC4A9 Gene

Genes around SLC4A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A9 Gene

Proteins for SLC4A9 Gene

  • Protein details for SLC4A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q91-B3A4_HUMAN
    Recommended name:
    Anion exchange protein 4
    Protein Accession:
    Q96Q91
    Secondary Accessions:
    • B7ZL63
    • D3DQD4
    • D3DQD5
    • D3DQD6
    • E9PDK1
    • Q96RM5
    • Q9BXF2
    • Q9BXN3

    Protein attributes for SLC4A9 Gene

    Size:
    983 amino acids
    Molecular mass:
    108248 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK28832.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC4A9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A9 Gene

Post-translational modifications for SLC4A9 Gene

  • Glycosylation at Asn576 and Asn600
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC4A9 Gene

Domains & Families for SLC4A9 Gene

Gene Families for SLC4A9 Gene

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

Protein Domains for SLC4A9 Gene

Blocks:
  • HCO3- transporter, cytoplasmic
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC4A9 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 4 member 9 (B3A4_HUMAN)
  • SLC4A9 protein (B7ZL63_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96Q91

UniProtKB/Swiss-Prot:

B3A4_HUMAN :
  • Belongs to the anion exchanger (TC 2.A.31) family.
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A9: view

Function for SLC4A9 Gene

Molecular function for SLC4A9 Gene

UniProtKB/Swiss-Prot Function:
Probable apical anion exchanger of the kidney cortex.

Phenotypes From GWAS Catalog for SLC4A9 Gene

Gene Ontology (GO) - Molecular Function for SLC4A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity IEA --
GO:0008509 anion transmembrane transporter activity IEA --
GO:0008510 sodium:bicarbonate symporter activity IBA 21873635
GO:0015297 antiporter activity IEA --
GO:0015301 anion:anion antiporter activity IEA --
genes like me logo Genes that share ontologies with SLC4A9: view
genes like me logo Genes that share phenotypes with SLC4A9: view

Animal Models for SLC4A9 Gene

MGI Knock Outs for SLC4A9:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC4A9

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC4A9 Gene

Localization for SLC4A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A9 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 SLC4A9 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC4A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with SLC4A9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC4A9 Gene

Pathways & Interactions for SLC4A9 Gene

genes like me logo Genes that share pathways with SLC4A9: view

Interacting Proteins for SLC4A9 Gene

;

Gene Ontology (GO) - Biological Process for SLC4A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015701 bicarbonate transport TAS,IBA --
GO:0051453 regulation of intracellular pH IBA 21873635
genes like me logo Genes that share ontologies with SLC4A9: view

No data available for SIGNOR curated interactions for SLC4A9 Gene

Drugs & Compounds for SLC4A9 Gene

(1) Drugs for SLC4A9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SLC4A9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC4A9: view

Transcripts for SLC4A9 Gene

mRNA/cDNA for SLC4A9 Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A9 Gene

No ASD Table

Relevant External Links for SLC4A9 Gene

GeneLoc Exon Structure for
SLC4A9

Expression for SLC4A9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC4A9 Gene

mRNA differential expression in normal tissues according to GTEx for SLC4A9 Gene

This gene is overexpressed in Kidney - Cortex (x41.5).

Protein differential expression in normal tissues from HIPED for SLC4A9 Gene

This gene is overexpressed in Heart (36.6) and Synovial fluid (32.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC4A9 Gene



Protein tissue co-expression partners for SLC4A9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC4A9

SOURCE GeneReport for Unigene cluster for SLC4A9 Gene:

Hs.550313

mRNA Expression by UniProt/SwissProt for SLC4A9 Gene:

Q96Q91-B3A4_HUMAN
Tissue specificity: Kidney specific.

Evidence on tissue expression from TISSUES for SLC4A9 Gene

  • Kidney(4.4)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with SLC4A9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A9 Gene

Orthologs for SLC4A9 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC4A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A9 31 30
  • 99.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC4A9 31 30
  • 87.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC4A9 31 30
  • 87.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc4a9 30
  • 84.78 (n)
mouse
(Mus musculus)
Mammalia Slc4a9 17 31 30
  • 83.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A9 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC4A9 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A9 31
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC4A9 31
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 31
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea abts-1 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for SLC4A9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for SLC4A9 Gene

ENSEMBL:
Gene Tree for SLC4A9 (if available)
TreeFam:
Gene Tree for SLC4A9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC4A9: view image

Paralogs for SLC4A9 Gene

Paralogs for SLC4A9 Gene

(9) SIMAP similar genes for SLC4A9 Gene using alignment to 1 proteins:

  • B3A4_HUMAN
genes like me logo Genes that share paralogs with SLC4A9: view

Variants for SLC4A9 Gene

Additional dbSNP identifiers (rs#s) for SLC4A9 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC4A9 Gene

Variant ID Type Subtype PubMed ID
esv2659425 CNV deletion 23128226
esv3434218 CNV duplication 20981092
esv3606949 CNV loss 21293372
nsv1020011 CNV gain 25217958
nsv509090 CNV insertion 20534489

Variation tolerance for SLC4A9 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC4A9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC4A9 Gene

Disorders for SLC4A9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC4A9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
apocrine adenoma
  • tubular apocrine adenoma
cataract 14, multiple types
  • ctrct14
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC4A9

genes like me logo Genes that share disorders with SLC4A9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC4A9 Gene

Publications for SLC4A9 Gene

  1. A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31. (PMID: 11305939) Lipovich L … King MC (Genome biology 2001) 2 3 4 23 54
  2. Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. (PMID: 11302728) Parker MD … Tanner MJ (Biochemical and biophysical research communications 2001) 3 4 23 54
  3. Ae4 (Slc4a9) is an electroneutral monovalent cation-dependent Cl-/HCO3- exchanger. (PMID: 27114614) Peña-Münzenmayer G … Catalán MA (The Journal of general physiology 2016) 3 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  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 54

Products for SLC4A9 Gene

Sources for SLC4A9 Gene