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Aliases for SLC4A5 Gene

Aliases for SLC4A5 Gene

  • Solute Carrier Family 4 Member 5 2 3 4 5
  • Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter), Member 5 2 3
  • NBCe2 3 4
  • NBC4 3 4
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 5 2
  • Electrogenic Sodium Bicarbonate Cotransporter 4 3

External Ids for SLC4A5 Gene

Previous GeneCards Identifiers for SLC4A5 Gene

  • GC02M074576
  • GC02M074651
  • GC02M074397
  • GC02M074414
  • GC02M074423
  • GC02M074351
  • GC02M074360
  • GC02M074443
  • GC02M074179

Summaries for SLC4A5 Gene

Entrez Gene Summary for SLC4A5 Gene

  • This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC4A5 Gene

SLC4A5 (Solute Carrier Family 4 Member 5) is a Protein Coding gene. Diseases associated with SLC4A5 include Alstrom Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. 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 for SLC4A5 Gene

  • Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH.

Gene Wiki entry for SLC4A5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A5 Gene

Genomics for SLC4A5 Gene

Regulatory Elements for SLC4A5 Gene

Enhancers for SLC4A5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G073857 1 FANTOM5 59.7 +486.4 486377 0.2 HDAC1 ATF1 CBX3 PKNOX1 TBL1XR1 ARNT CHAMP1 TCF12 ZNF766 GATA2 SLC4A5 ALMS1 LOC105374806 LOC105374807
GH02G074196 1.2 ENCODE 17.5 +144.7 144667 3.9 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC DUSP11 DGUOK-AS1 ENSG00000273245 BOLA3-AS1 WBP1 SLC4A5 MOGS PCGF1 SEMA4F HTRA2
GH02G074438 1.4 ENCODE dbSUPER 14 -97.6 -97642 4.2 HDGF HNRNPUL1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000272183 SLC4A5 WBP1 ALMS1P1 RTKN GC02M074419
GH02G074292 0.8 ENCODE 18.5 +50.1 50103 2.1 ELF3 FOXA2 THRB ZSCAN9 RARA HMG20B SMAD5 SOX13 SAP130 PYGO2 SLC4A5 INO80B KRT18P26 GC02P074217
GH02G074372 1.3 Ensembl ENCODE dbSUPER 11.3 -30.6 -30576 2.5 MXI1 KLF1 ATF1 RBBP5 ZFHX2 POLR2A ZNF600 CREM EGR2 MAZ SLC4A5 C2orf81 WDR54 RTKN BOLA3-AS1 BOLA3 ENSG00000272183 MOGS GC02M074371 ENSG00000264324
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC4A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC4A5 Gene

Chromosome:
2
Start:
74,216,242 bp from pter
End:
74,343,414 bp from pter
Size:
127,173 bases
Orientation:
Minus strand

Genomic View for SLC4A5 Gene

Genes around SLC4A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A5 Gene

Proteins for SLC4A5 Gene

  • Protein details for SLC4A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY07-S4A5_HUMAN
    Recommended name:
    Electrogenic sodium bicarbonate cotransporter 4
    Protein Accession:
    Q9BY07
    Secondary Accessions:
    • Q32MA7
    • Q59EQ9
    • Q8WXD3
    • Q8WXD7
    • Q96DS7
    • Q96DS8
    • Q9HBU5

    Protein attributes for SLC4A5 Gene

    Size:
    1137 amino acids
    Molecular mass:
    126255 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG18492.1; Type=Frameshift; Positions=1047; Evidence={ECO:0000305}; Sequence=AAL50802.1; Type=Frameshift; Positions=760, 925, 1047; Evidence={ECO:0000305}; Sequence=EAW99691.1; Type=Frameshift; Positions=1047; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC4A5 Gene

neXtProt entry for SLC4A5 Gene

Post-translational modifications for SLC4A5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC4A5 Gene

Domains & Families for SLC4A5 Gene

Gene Families for SLC4A5 Gene

Suggested Antigen Peptide Sequences for SLC4A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BY07

UniProtKB/Swiss-Prot:

S4A5_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 SLC4A5: view

Function for SLC4A5 Gene

Molecular function for SLC4A5 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is inhibited by 4,4-di-isothiocyanatostilbene-2,2-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters).
UniProtKB/Swiss-Prot Function:
Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH.

Gene Ontology (GO) - Molecular Function for SLC4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005452 inorganic anion exchanger activity IEA --
GO:0008509 anion transmembrane transporter activity IBA --
GO:0008510 sodium:bicarbonate symporter activity TAS --
GO:0015301 anion:anion antiporter activity IEA --
genes like me logo Genes that share ontologies with SLC4A5: view
genes like me logo Genes that share phenotypes with SLC4A5: view

Animal Models for SLC4A5 Gene

MGI Knock Outs for SLC4A5:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC4A5

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC4A5 Gene

Localization for SLC4A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A5 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Expressed in the apical plasma membrane domain of a subset of collecting ducts in the renal medulla. {ECO:0000269 PubMed:17715183}.

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 SLC4A5 gene
Compartment Confidence
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10978526
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC4A5: view

Pathways & Interactions for SLC4A5 Gene

genes like me logo Genes that share pathways with SLC4A5: view

Interacting Proteins for SLC4A5 Gene

Gene Ontology (GO) - Biological Process for SLC4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002064 epithelial cell development IEA --
GO:0003014 renal system process IEA,IBA --
GO:0003073 regulation of systemic arterial blood pressure IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with SLC4A5: view

No data available for SIGNOR curated interactions for SLC4A5 Gene

Drugs & Compounds for SLC4A5 Gene

(1) Drugs for SLC4A5 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium bicarbonate Approved Pharma Transporter, substrate 0

(3) Additional Compounds for SLC4A5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC4A5: view

Transcripts for SLC4A5 Gene

Unigene Clusters for SLC4A5 Gene

Solute carrier family 4, sodium bicarbonate cotransporter, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3:
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - -

ExUns: 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - -

Relevant External Links for SLC4A5 Gene

GeneLoc Exon Structure for
SLC4A5
ECgene alternative splicing isoforms for
SLC4A5

Expression for SLC4A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC4A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC4A5 Gene

This gene is overexpressed in Thyroid (x22.7) and Testis (x5.5).

Protein differential expression in normal tissues from HIPED for SLC4A5 Gene

This gene is overexpressed in Fetal gut (26.6), Monocytes (11.0), Gallbladder (9.3), Ovary (8.6), and Rectum (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC4A5 Gene



Protein tissue co-expression partners for SLC4A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC4A5 Gene:

SLC4A5

SOURCE GeneReport for Unigene cluster for SLC4A5 Gene:

Hs.594099

mRNA Expression by UniProt/SwissProt for SLC4A5 Gene:

Q9BY07-S4A5_HUMAN
Tissue specificity: Highest expression observed in liver, spleen and testis; moderate expression in the choroid plexus, hippocampus, cerebrum and cerebellum of brain, and in kidney cortex and kidney medulla. Also observed in heart, pancreas, muscle, lung, placenta, stomach and small intestine. Weakest expression seen in peripheral blood lymphocytes, colon, duodenum, jejunum, ileum and skeletal muscle.

Evidence on tissue expression from TISSUES for SLC4A5 Gene

  • Kidney(2.1)
genes like me logo Genes that share expression patterns with SLC4A5: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A5 Gene

Orthologs for SLC4A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC4A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A5 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia SLC4A5 34 35
  • 90.87 (n)
cow
(Bos Taurus)
Mammalia SLC4A5 34 35
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Slc4a5 34 16 35
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Slc4a5 34
  • 87.4 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A5 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A5 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A5 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC4A5 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a5 34
  • 71.9 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-48m9.1 34
  • 71.08 (n)
slc4a5 35
  • 71 (a)
OneToMany
SLC4A5 (1 of 2) 35
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 36 35
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea F52B5.1 36
  • 42 (a)
abts-1 35
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for SLC4A5 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)
  • wheat (Triticum aestivum)

Evolution for SLC4A5 Gene

ENSEMBL:
Gene Tree for SLC4A5 (if available)
TreeFam:
Gene Tree for SLC4A5 (if available)

Paralogs for SLC4A5 Gene

Paralogs for SLC4A5 Gene

genes like me logo Genes that share paralogs with SLC4A5: view

Variants for SLC4A5 Gene

Sequence variations from dbSNP and Humsavar for SLC4A5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000001825 -- 74,241,422(+) CACTA(C/T)ACCCA intron-variant
rs1000047194 -- 74,330,154(+) GATAT(C/G)TAGAT intron-variant
rs1000110285 -- 74,284,730(+) GGCAC(C/T)GGGGA intron-variant
rs1000165986 -- 74,291,716(+) CCTTC(C/T)GCCTC intron-variant
rs1000228520 -- 74,265,786(+) TTTTC(A/C)CTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC4A5 Gene

Variant ID Type Subtype PubMed ID
dgv636n67 CNV loss 20364138
esv2123407 CNV deletion 18987734
esv2466904 CNV deletion 19546169
esv2660222 CNV deletion 23128226
esv2759061 CNV loss 17122850
esv3344463 CNV duplication 20981092
esv3558644 CNV deletion 23714750
esv3558655 CNV deletion 23714750
esv3591280 CNV loss 21293372
esv4660 CNV loss 18987735
esv5967 CNV gain 19470904
esv7786 CNV loss 19470904
esv8112 CNV gain 19470904
nsv1120375 CNV tandem duplication 24896259
nsv2783 CNV deletion 18451855
nsv834261 CNV loss 17160897
nsv979026 CNV duplication 23825009

Variation tolerance for SLC4A5 Gene

Residual Variation Intolerance Score: 5.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC4A5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A5 Gene

Disorders for SLC4A5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC4A5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alstrom syndrome
  • alström syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC4A5

Genetic Association Database (GAD)
SLC4A5
Human Genome Epidemiology (HuGE) Navigator
SLC4A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC4A5
genes like me logo Genes that share disorders with SLC4A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC4A5 Gene

Publications for SLC4A5 Gene

  1. Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family. (PMID: 10978526) Pushkin A. … Kurtz I. (Biochim. Biophys. Acta 2000) 2 3 4 22 64
  2. Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization. (PMID: 11087115) Pushkin A. … Kurtz I. (IUBMB Life 2000) 2 3 4 22 64
  3. Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant. (PMID: 12388414) Xu J. … Soleimani M. (Am. J. Physiol. 2003) 3 4 22 64
  4. Functional characterization of NBC4: a new electrogenic sodium- bicarbonate cotransporter. (PMID: 11788353) Sassani P. … Kurtz I. (Am. J. Physiol. 2002) 3 4 22 64
  5. Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study. (PMID: 19384345) StA1tz A.M. … Rankinen T. (Eur. J. Hum. Genet. 2009) 3 46 64

Products for SLC4A5 Gene

Sources for SLC4A5 Gene

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