This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] See more...

Aliases for SLC4A4 Gene

Aliases for SLC4A4 Gene

  • Solute Carrier Family 4 Member 4 2 3 4 5
  • NBC1 2 3 4
  • Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter), Member 4 2 3
  • Electrogenic Sodium Bicarbonate Cotransporter 1 3 4
  • Na(+)/HCO3(-) Cotransporter 3 4
  • HNBC1 2 3
  • HhNMC 2 3
  • KNBC1 3 4
  • NBC2 2 3
  • PNBC 2 3
  • Sodium Bicarbonate Cotransporter 1 (Sodium Bicarbonate Cotransporter, Kidney; Sodium Bicarbonate Cotransporter, Pancreas) 3
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4, Brain Type 3
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4 2
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 5 3
  • Sodium Bicarbonate Cotransporter 4
  • NBCe1-A 3
  • SLC4A5 3
  • SLC4A4 5
  • NBCE1 4
  • KNBC 3
  • NBC 4

External Ids for SLC4A4 Gene

Previous HGNC Symbols for SLC4A4 Gene

  • SLC4A5

Previous GeneCards Identifiers for SLC4A4 Gene

  • GC04P072017
  • GC04P072293
  • GC04P072453
  • GC04P072568
  • GC04P072418
  • GC04P067858
  • GC04P071092

Summaries for SLC4A4 Gene

Entrez Gene Summary for SLC4A4 Gene

  • This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for SLC4A4 Gene

SLC4A4 (Solute Carrier Family 4 Member 4) is a Protein Coding gene. Diseases associated with SLC4A4 include Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation and Renal Tubular Acidosis, Proximal. Among its related pathways are Proximal tubule bicarbonate reclamation and Salivary secretion. Gene Ontology (GO) annotations related to this gene include transporter activity and anion transmembrane transporter activity. An important paralog of this gene is SLC4A5.

UniProtKB/Swiss-Prot Summary for SLC4A4 Gene

  • Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH.
  • [Isoform 2]: May have a higher activity than isoform 1.

Gene Wiki entry for SLC4A4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC4A4 Gene

Genomics for SLC4A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC4A4 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
GH04J071186 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 +125.4 125365 4 ZNF600 POLR2A ZBTB10 YY1 ZNF341 RXRA RAD21 PRDM6 ZBTB48 ZNF2 SLC4A4 MOB1B piR-57195-160 RF00994-736 GC
GH04J071338 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.1 +276.5 276538 0.8 BCLAF1 BCL11A REST TRIM22 IRF4 CBFB JUND BHLHE40 BATF ELF1 SLC4A4 ENSG00000249170 lnc-GC-3 HSALNG0035075 GC
GH04J071237 Promoter 0.9 EPDnew Ensembl 250.1 +173.6 173555 0.4 ZIC2 EGR2 POLR2A ZFHX2 SLC4A4 RF00994-736 KR153194-144 GC
GH04J071126 Enhancer 0.7 Ensembl ENCODE 8.7 +64.3 64316 1.2 STAT3 FOSL2 JUND BCL6 BHLHE40 CREB1 FOS ETS1 EP300 CEBPB SLC4A4 DCK HSALNG0035069 HSALNG0035073 RF00017-3896 GC
GH04J071107 Enhancer 0.9 Ensembl ENCODE 6.2 +46.9 46855 5 ZNF580 ATF2 ZNF10 FEZF1 ZNF639 ZEB1 ZNF513 ZNF843 TCF7L2 PRDM6 SLC4A4 DCK piR-47628-127 HSALNG0035069 RF00017-3897 RF00017-3896 GC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC4A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC4A4

Top Transcription factor binding sites by QIAGEN in the SLC4A4 gene promoter:
  • aMEF-2
  • Egr-2
  • MEF-2A
  • NF-AT
  • POU3F2
  • Sox9
  • SRY
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SLC4A4 Gene

Latest Assembly
chr4:71,062,646-71,572,087
(GRCh38/hg38)
Size:
509,442 bases
Orientation:
Plus strand

Previous Assembly
chr4:72,052,482-72,437,800
(GRCh37/hg19 by Entrez Gene)
Size:
385,319 bases
Orientation:
Plus strand

chr4:72,053,003-72,437,804
(GRCh37/hg19 by Ensembl)
Size:
384,802 bases
Orientation:
Plus strand

Genomic View for SLC4A4 Gene

Genes around SLC4A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A4 Gene

Proteins for SLC4A4 Gene

  • Protein details for SLC4A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6R1-S4A4_HUMAN
    Recommended name:
    Electrogenic sodium bicarbonate cotransporter 1
    Protein Accession:
    Q9Y6R1
    Secondary Accessions:
    • C4B714
    • O15153
    • Q8NEJ2
    • Q9H262
    • Q9NRZ1
    • Q9UIC0
    • Q9UIC1
    • Q9UP50

    Protein attributes for SLC4A4 Gene

    Size:
    1079 amino acids
    Molecular mass:
    121461 Da
    Quaternary structure:
    • Homodimer (PubMed:29500354). Interacts with CA2/carbonic anhydrase 2 and CA4/carbonic anhydrase 4 which may regulate transporter activity (PubMed:12411514, PubMed:14567693, PubMed:15218065, PubMed:15563508). Isoform 1 but not isoform 2 interacts with AHCYL1 (via PEST domain when phosphorylated); the interaction increases SLC4A4 isoform 1 activity (PubMed:16769890). Interacts with AHCYL2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for SLC4A4 Gene

    Alternative splice isoforms for SLC4A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A4 Gene

Post-translational modifications for SLC4A4 Gene

  • Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+):HCO3(-) stoichiometry of the transporter from 3:1 to 2:1. Phosphorylated in presence of STK39 and dephosphorylated in presence of PP1 phosphatase; phosphorylation seems to inhibit SLC4A4 activity.
  • N-glycosylation is not necessary for the transporter basic functions.
  • Glycosylation at Asn641 and Asn661
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for SLC4A4 Gene

Domains & Families for SLC4A4 Gene

Gene Families for SLC4A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC4A4 Gene

InterPro:
Blocks:
  • Na+/HCO3- co-transporter signature
  • HCO3- transporter, cytoplasmic

Suggested Antigen Peptide Sequences for SLC4A4 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 4 sodium bicarbonate cotransporter member 4 variant C (A5JJ20_HUMAN)
  • kNBC1 (S4A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6R1

UniProtKB/Swiss-Prot:

S4A4_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 SLC4A4: view

Function for SLC4A4 Gene

Molecular function for SLC4A4 Gene

UniProtKB/Swiss-Prot Function:
Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: May have a higher activity than isoform 1.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by stilbene derivatives and regulated by cyclic AMP.
GENATLAS Biochemistry:
solute carrier family 4,sodium bicarbonate cotransporter member 4,expressed in the basolateral membrane of renal proximal tubule cells

Phenotypes From GWAS Catalog for SLC4A4 Gene

Gene Ontology (GO) - Molecular Function for SLC4A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity IEA --
GO:0005515 protein binding IPI 15563508
GO:0008509 anion transmembrane transporter activity IEA --
GO:0008510 sodium:bicarbonate symporter activity IBA,TAS 21976511
GO:0015293 symporter activity IMP 29500354
genes like me logo Genes that share ontologies with SLC4A4: view
genes like me logo Genes that share phenotypes with SLC4A4: view

Human Phenotype Ontology for SLC4A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC4A4 Gene

MGI Knock Outs for SLC4A4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A4

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC4A4 Gene

Localization for SLC4A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A4 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 SLC4A4 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC4A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9235899
GO:0009986 cell surface IDA 29500354
GO:0016020 membrane IDA 10069984
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC4A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC4A4 Gene

Pathways & Interactions for SLC4A4 Gene

genes like me logo Genes that share pathways with SLC4A4: view

SIGNOR curated interactions for SLC4A4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SLC4A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA,IDA 16769890
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
GO:0015701 bicarbonate transport IMP,TAS --
genes like me logo Genes that share ontologies with SLC4A4: view

Drugs & Compounds for SLC4A4 Gene

(9) Drugs for SLC4A4 Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium bicarbonate Approved Pharma Transporter, substrate 0
S0859 Pharma NBC inhibitor,potent and selective 0

(8) Additional Compounds for SLC4A4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
Hydrogen carbonate
  • [CO(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Dihydrogen carbonic acid
71-52-3

(1) ApexBio Compounds for SLC4A4 Gene

Compound Action Cas Number
S0859 NBC inhibitor,potent and selective 1019331-10-2
genes like me logo Genes that share compounds with SLC4A4: view

Drug products for research

Transcripts for SLC4A4 Gene

mRNA/cDNA for SLC4A4 Gene

3 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
9 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 SLC4A4

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A4 Gene

No ASD Table

Relevant External Links for SLC4A4 Gene

GeneLoc Exon Structure for
SLC4A4

Expression for SLC4A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC4A4 Gene

mRNA differential expression in normal tissues according to GTEx for SLC4A4 Gene

This gene is overexpressed in Pancreas (x11.3), Kidney - Cortex (x4.2), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for SLC4A4 Gene

This gene is overexpressed in Frontal cortex (16.8), Urine (16.1), Spinal cord (13.9), and Kidney (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC4A4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC4A4

SOURCE GeneReport for Unigene cluster for SLC4A4 Gene:

Hs.5462

mRNA Expression by UniProt/SwissProt for SLC4A4 Gene:

Q9Y6R1-S4A4_HUMAN
Tissue specificity: Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal tubules.

Evidence on tissue expression from TISSUES for SLC4A4 Gene

  • Kidney(4.8)
  • Pancreas(4.6)
  • Eye(4.5)
  • Heart(4.4)
  • Liver(4.4)
  • Muscle(4.4)
  • Nervous system(4.3)
  • Intestine(2.5)
  • Stomach(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with SLC4A4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for SLC4A4 Gene

Orthologs for SLC4A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC4A4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC4A4 29 30
  • 99.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC4A4 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC4A4 29 30
  • 93.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A4 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC4A4 29 30
  • 92.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc4a4 29
  • 89.4 (n)
Mouse
(Mus musculus)
Mammalia Slc4a4 29 16 30
  • 89.31 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SLC4A4 29 30
  • 83.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC4A4 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc4a4 29
  • 79.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc4a4b 30
  • 81 (a)
OneToMany
slc4a4a 29 30
  • 75.02 (n)
OneToMany
Dr.2506 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.32 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ndae1 30 31
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F52B5.1 31
  • 46 (a)
abts-1 30
  • 39 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02123g 29
  • 43.21 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 29
  • 42.73 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR677C 29
  • 40.83 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons BOR4 29
  • 44.59 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC543.05c 29
  • 42.09 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01480 29
  • 42.06 (n)
Species where no ortholog for SLC4A4 was found in the sources mined by GeneCards:
  • 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC4A4 Gene

ENSEMBL:
Gene Tree for SLC4A4 (if available)
TreeFam:
Gene Tree for SLC4A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC4A4: view image
Alliance of Genome Resources:
Additional Orthologs for SLC4A4

Paralogs for SLC4A4 Gene

Paralogs for SLC4A4 Gene

(11) SIMAP similar genes for SLC4A4 Gene using alignment to 2 proteins:

  • S4A4_HUMAN
  • A5JJ20_HUMAN
genes like me logo Genes that share paralogs with SLC4A4: view

Variants for SLC4A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC4A4 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
769635 Benign: not provided 71,560,146(+) C/.
NM_001098484.3(SLC4A4):c.2991= (p.His997=)
SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION
904400 Conflicting Interpretations: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 71,451,276(+) T/C
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)
MISSENSE
904401 Uncertain Significance: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 71,453,495(+) G/A
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)
SYNONYMOUS
904461 Uncertain Significance: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 71,567,033(+) C/T
NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr)
MISSENSE_VARIANT,SYNONYMOUS
904462 Uncertain Significance: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 71,567,034(+) A/G
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC4A4 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 SLC4A4 Gene

Variant ID Type Subtype PubMed ID
esv1975599 CNV deletion 18987734
esv2476295 CNV deletion 19546169
esv2669073 CNV deletion 23128226
esv2727799 CNV deletion 23290073
esv2763808 CNV gain 21179565
esv3346423 CNV insertion 20981092
esv3354185 CNV insertion 20981092
esv3600949 CNV loss 21293372
nsv1004558 CNV gain 25217958
nsv1136875 CNV deletion 24896259
nsv4382 CNV deletion 18451855
nsv4383 CNV insertion 18451855
nsv4384 CNV deletion 18451855
nsv523289 CNV loss 19592680
nsv950051 CNV deletion 24416366
nsv997788 CNV loss 25217958

Variation tolerance for SLC4A4 Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.80; 83.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC4A4 Gene

Human Gene Mutation Database (HGMD)
SLC4A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A4
Leiden Open Variation Database (LOVD)
SLC4A4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A4 Gene

Disorders for SLC4A4 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SLC4A4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
  • rta, proximal, autosomal recessive
renal tubular acidosis, proximal
  • renal tubular acidosis ii
renal tubular acidosis
  • acidosis renal tubular
corneal dystrophy, band-shaped
  • band keratopathy
corneal degeneration
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S4A4_HUMAN
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO:0000269 PubMed:10545938, ECO:0000269 PubMed:15471865, ECO:0000269 PubMed:15713912, ECO:0000269 PubMed:15930088, ECO:0000269 PubMed:16636648, ECO:0000269 PubMed:17661077}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).

Additional Disease Information for SLC4A4

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 SLC4A4: view

No data available for Genatlas for SLC4A4 Gene

Publications for SLC4A4 Gene

  1. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. (PMID: 10545938) Igarashi T … Endou H (Nature genetics 1999) 3 4 22 72
  2. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. (PMID: 9651366) Abuladze N … Kurtz I (The Journal of biological chemistry 1998) 2 3 4 22
  3. Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. (PMID: 17661077) Suzuki M … Fujita T (Pflugers Archiv : European journal of physiology 2008) 3 4 22
  4. IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (pNBC1). (PMID: 16769890) Shirakabe K … Mikoshiba K (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22
  5. Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). (PMID: 16636648) Demirci FY … Gorin MB (Molecular vision 2006) 3 4 22

Products for SLC4A4 Gene

Sources for SLC4A4 Gene