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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 Bile secretion and 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 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SLC4A5 Gene

Promoters and enhancers for SLC4A5 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
GH02I074328 Promoter 0.7 EPDnew 550.4 +15.2 15185 0.1 PKNOX1 USF1 USF2 SLC4A5 RTKN C2orf81 ENSG00000159239 WDR54 RNU6-542P ENSG00000264324
GH02I074343 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 SLC4A5 NECAP1P2 ENSG00000264324
GH02I074196 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.5 +144.7 144667 3.9 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ENSG00000279070 MTHFD2 PCGF1 DUSP11 INO80B ENSG00000273245 WBP1 AUP1 TTC31 MOB1A
GH02I074438 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14 -97.6 -97642 4.2 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RTKN ENSG00000272183 SLC4A5 WBP1 ALMS1P1 GC02M074442 GC02M074444 GC02M074419
GH02I074372 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.3 -30.6 -30575 2.5 MEIS2 MXI1 KLF1 ATF1 SIN3A ZFHX2 POLR2A ZNF600 ATF7 CREM GC02M074371 DCTN1 SLC4A5 WDR54 C2orf81 ENSG00000159239 RTKN BOLA3 BOLA3-AS1 ENSG00000272183
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC4A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC4A5 gene promoter:

Genomic Locations for SLC4A5 Gene

Genomic Locations for SLC4A5 Gene
chr2:74,216,242-74,343,414
(GRCh38/hg38)
Size:
127,173 bases
Orientation:
Minus strand
chr2:74,443,369-74,570,541
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for SLC4A5 Gene

Domains & Families for SLC4A5 Gene

Gene Families for SLC4A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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.

Phenotypes From GWAS Catalog for SLC4A5 Gene

Gene Ontology (GO) - Molecular Function for SLC4A5 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 TAS,NAS --
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:

Inhibitory RNA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC4A5 Gene

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:

CRISPR Products

Inhibitory RNA Products

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 33 34
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia SLC4A5 33 34
  • 90.87 (n)
cow
(Bos Taurus)
Mammalia SLC4A5 33 34
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Slc4a5 33 16 34
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Slc4a5 33
  • 87.4 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A5 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A5 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A5 34
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC4A5 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a5 33
  • 71.9 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-48m9.1 33
  • 71.08 (n)
slc4a5 34
  • 71 (a)
OneToMany
SLC4A5 (1 of 2) 34
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 35 34
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea F52B5.1 35
  • 42 (a)
abts-1 34
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000001825 -- 74,241,422(-) C/T intron_variant
rs1000047194 -- 74,330,154(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000110285 -- 74,284,730(-) T/C intron_variant
rs1000165986 -- 74,291,716(-) C/T intron_variant
rs1000228520 -- 74,265,786(-) A/C 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)

Additional Variant Information 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 and Novoseek

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

Additional Disease Information for SLC4A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Biochimica et biophysica acta 2000) 2 3 4 22 58
  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 58
  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 (American journal of physiology. Renal physiology 2003) 3 4 22 58
  4. Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter. (PMID: 11788353) Sassani P … Kurtz I (American journal of physiology. Cell physiology 2002) 3 4 22 58
  5. Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study. (PMID: 19384345) Stütz AM … Rankinen T (European journal of human genetics : EJHG 2009) 3 44 58

Products for SLC4A5 Gene

Sources for SLC4A5 Gene

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