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Aliases for SLC4A5 Gene

Aliases for SLC4A5 Gene

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

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. GO annotations related to this gene include transporter activity and anion transmembrane transporter activity. An important paralog of this gene is SLC4A8.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for SLC4A5 Gene at MOPED

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:0008510 sodium:bicarbonate symporter activity NAS,TAS --
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
Jensen Localization Image for SLC4A5 Gene 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:0016020 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

Selected Interacting proteins: Q9BY07-S4A5_HUMAN for SLC4A5 Gene via MINT

Gene Ontology (GO) - Biological Process for SLC4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003073 regulation of systemic arterial blood pressure IEA --
GO:0010468 regulation of gene expression IEA --
GO:0015701 bicarbonate transport TAS --
GO:0035725 sodium ion transmembrane transport NAS,TAS --
GO:0048311 mitochondrion distribution 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 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



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.
genes like me logo Genes that share expression patterns with SLC4A5: view

Protein tissue co-expression partners for SLC4A5 Gene

Primer Products

Orthologs for SLC4A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC4A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC4A5 35
  • 89.37 (n)
  • 91.42 (a)
SLC4A5 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC4A5 35
  • 90.87 (n)
  • 93.17 (a)
SLC4A5 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc4a5 35
  • 88.44 (n)
  • 92.99 (a)
Slc4a5 16
Slc4a5 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC4A5 35
  • 99.82 (n)
  • 99.82 (a)
SLC4A5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc4a5 35
  • 87.4 (n)
  • 89.92 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC4A5 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A5 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A5 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC4A5 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a5 35
  • 71.9 (n)
  • 78.37 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-48m9.1 35
  • 71.08 (n)
  • 75.62 (a)
slc4a5 36
  • 71 (a)
OneToMany
SLC4A5 (1 of 2) 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 37
  • 44 (a)
Ndae1 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F52B5.1 37
  • 42 (a)
abts-1 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for SLC4A5:
  • 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
rs17009792 - 74,262,196(+) GTAGA(C/T)TCGGG reference, missense
rs55651232 - 74,262,191(+) GTGGT(A/G)TAGAC reference, missense
rs702462 -- 74,217,304(-) TGATT(A/T)AATGC utr-variant-3-prime
rs758699 -- 74,287,540(-) CCTGG(A/G)TGTGG intron-variant
rs828862 -- 74,231,106(-) GTCTT(A/G)GCCGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834261 CNV Loss 17160897
dgv1198e1 CNV Complex 17122850
dgv1199e1 CNV Complex 17122850
nsv2783 CNV Loss 18451855
esv2466904 CNV Deletion 19546169
esv4660 CNV Deletion 18987735
esv2123407 CNV Deletion 18987734
esv2720210 CNV Deletion 23290073
esv7786 CNV Loss 19470904
nsv874287 CNV Loss 21882294
esv2660222 CNV Deletion 23128226
dgv636n67 CNV Loss 20364138
esv2720211 CNV Deletion 23290073
esv2720212 CNV Deletion 23290073

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
  • 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 23 67
  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 23
  3. Molecular mechanisms of electrogenic sodium bicarbonate cotransport: structural and equilibrium thermodynamic considerations. (PMID: 15014910) Kurtz I. … Tatishchev S. (J. Membr. Biol. 2004) 23 25
  4. 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 23
  5. Functional characterization of NBC4: a new electrogenic sodium- bicarbonate cotransporter. (PMID: 11788353) Sassani P. … Kurtz I. (Am. J. Physiol. 2002) 3 23

Products for SLC4A5 Gene

Sources for SLC4A5 Gene

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