Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC4A7 Gene

Aliases for SLC4A7 Gene

  • Solute Carrier Family 4 Member 7 2 3 4 5
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 7 2 3
  • Electroneutral Na/HCO(3) Cotransporter 3 4
  • Sodium Bicarbonate Cotransporter 2b 3 4
  • Sodium Bicarbonate Cotransporter 2 3 4
  • Bicarbonate Transporter 3 4
  • SLC4A6 3 4
  • NBCN1 3 4
  • NBC2 3 4
  • NBC3 3 4
  • SBC2 3 4
  • Sodium Bicarbonate Cotransporter 3 3
  • NBC2B 4
  • BT 4

External Ids for SLC4A7 Gene

Previous HGNC Symbols for SLC4A7 Gene

  • SLC4A6

Previous GeneCards Identifiers for SLC4A7 Gene

  • GC03M026863
  • GC03M027264
  • GC03M027389
  • GC03M027414
  • GC03M027357

Summaries for SLC4A7 Gene

Entrez Gene Summary for SLC4A7 Gene

  • This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

GeneCards Summary for SLC4A7 Gene

SLC4A7 (Solute Carrier Family 4 Member 7) is a Protein Coding gene. Diseases associated with SLC4A7 include Renal Tubular Acidosis and Progesterone-Receptor Negative Breast Cancer. Among its related pathways are 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 SLC4A10.

UniProtKB/Swiss-Prot for SLC4A7 Gene

  • Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity.

Gene Wiki entry for SLC4A7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A7 Gene

Genomics for SLC4A7 Gene

Regulatory Elements for SLC4A7 Gene

Enhancers for SLC4A7 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
GH03G027358 1.6 Ensembl ENCODE dbSUPER 5.3 +124.7 124664 3.3 PKNOX1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 ZNF143 FOS SP5 NEK10 SLC4A7 GC03M027342
GH03G027503 1.1 Ensembl ENCODE dbSUPER 7.2 -19.4 -19392 1.3 MAFF POLR3A CEBPA CEBPB CEBPG FOS MAFK SLC4A7 GC03P027513 PIR51999
GH03G027520 1.4 Ensembl ENCODE dbSUPER 5.6 -37.3 -37277 1.5 PKNOX1 FOXA2 ARID4B SIN3A FOS MXD4 TSHZ1 KAT8 SSRP1 MAFF NEK10 SLC4A7 ENSG00000232167 RNU1-96P
GH03G027310 1.1 Ensembl ENCODE 5.4 +172.9 172939 2.2 GTF2F1 ELF3 CTCF JUN SIN3A CEBPG RAD21 RFX5 GATA2 ZNF143 RNU6-342P NEK10 SLC4A7 GC03P027342 GC03M027265
GH03G027679 1.3 Ensembl ENCODE 4.5 -196.5 -196454 2.1 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ELK1 ZNF143 LINC02084 SLC4A7 ENSG00000271943 ENSG00000232766
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC4A7 on UCSC Golden Path with GeneCards custom track

Promoters for SLC4A7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000149986 520 2601 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B ETS1 GLIS2 ELK1 ZNF143

Genomic Location for SLC4A7 Gene

Chromosome:
3
Start:
27,372,721 bp from pter
End:
27,484,420 bp from pter
Size:
111,700 bases
Orientation:
Minus strand

Genomic View for SLC4A7 Gene

Genes around SLC4A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A7 Gene

Proteins for SLC4A7 Gene

  • Protein details for SLC4A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6M7-S4A7_HUMAN
    Recommended name:
    Sodium bicarbonate cotransporter 3
    Protein Accession:
    Q9Y6M7
    Secondary Accessions:
    • A6NIA8
    • B2CI53
    • B5M449
    • B5M451
    • B5M452
    • B5M453
    • B6DY52
    • B6DY53
    • C9JST9
    • D3K174
    • D3K175
    • O60350
    • Q6AHZ9
    • Q9HC88
    • Q9UIB9

    Protein attributes for SLC4A7 Gene

    Size:
    1214 amino acids
    Molecular mass:
    136044 Da
    Quaternary structure:
    • Interacts with CFTR through SLC9A3R1/EBP50. Interacts with USH1C. Forms a complex with ATP6V1B1 and SLC9A3R1/EBP50. Interacts in a pH dependent-manner with CA2/carbonic anhydrase 2.

    Alternative splice isoforms for SLC4A7 Gene

neXtProt entry for SLC4A7 Gene

Post-translational modifications for SLC4A7 Gene

  • Ubiquitination at isoforms=13, 6, 7, 8736 and Lys752
  • Glycosylation at Asn171, Asn269, Asn398, isoforms=10, 11, 12, 13, 14, 2, 3, 4, 6, 7, 8, 9406, Asn776, Asn786, and Asn791
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC4A7 Gene

Domains & Families for SLC4A7 Gene

Gene Families for SLC4A7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6M7

UniProtKB/Swiss-Prot:

S4A7_HUMAN :
  • The PDZ-binding motif mediates interaction with the CFTR, SLC9A3R1/EBP50 complex and probably with USH1C.
  • Belongs to the anion exchanger (TC 2.A.31) family.
Domain:
  • The PDZ-binding motif mediates interaction with the CFTR, SLC9A3R1/EBP50 complex and probably with USH1C.
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A7: view

Function for SLC4A7 Gene

Molecular function for SLC4A7 Gene

GENATLAS Biochemistry:
solute carrier family 4 (chloride-bicarbonate,anion exchange),member 7,expressed uniquely in skeletal muscle,less in heart
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=24 mM for external sodium {ECO:0000269 PubMed:10347222};
UniProtKB/Swiss-Prot EnzymeRegulation:
Transporter activity is regulated by CA2/carbonic anhydrase 2, cAMP and PKA. Insensitive to stilbene derivatives. PubMed:10347222 states it is inhibited by 5-(N-ethyl-N-isopropyl)-amiloride (EIPA).
UniProtKB/Swiss-Prot Function:
Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity.

Gene Ontology (GO) - Molecular Function for SLC4A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity IEA --
GO:0008509 anion transmembrane transporter activity IEA,IBA --
GO:0008510 sodium:bicarbonate symporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC4A7: view
genes like me logo Genes that share phenotypes with SLC4A7: view

Animal Models for SLC4A7 Gene

MGI Knock Outs for SLC4A7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC4A7 Gene

Localization for SLC4A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A7 Gene

Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Cell projection, stereocilium. Note=Also described at the apical cell membrane. Localizes to the stereocilia of cochlear outer hair cells and to the lateral membrane of cochlear inner hair cells (By similarity). {ECO:0000250}.

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 SLC4A7 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC4A7 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,IEA 10347222
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC4A7: view

Pathways & Interactions for SLC4A7 Gene

genes like me logo Genes that share pathways with SLC4A7: view

Gene Ontology (GO) - Biological Process for SLC4A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006820 anion transport IEA --
GO:0015698 inorganic anion transport IEA --
genes like me logo Genes that share ontologies with SLC4A7: view

No data available for SIGNOR curated interactions for SLC4A7 Gene

Drugs & Compounds for SLC4A7 Gene

(4) Drugs for SLC4A7 Gene - From: DrugBank, HMDB, and Novoseek

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

(6) Additional Compounds for SLC4A7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
genes like me logo Genes that share compounds with SLC4A7: view

Transcripts for SLC4A7 Gene

Unigene Clusters for SLC4A7 Gene

Solute carrier family 4, sodium bicarbonate cotransporter, member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a ·
SP1:
SP2:
SP3:
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SLC4A7 Gene

GeneLoc Exon Structure for
SLC4A7
ECgene alternative splicing isoforms for
SLC4A7

Expression for SLC4A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC4A7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC4A7 Gene

This gene is overexpressed in Pancreas (59.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC4A7 Gene



Protein tissue co-expression partners for SLC4A7 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC4A7 Gene:

SLC4A7

SOURCE GeneReport for Unigene cluster for SLC4A7 Gene:

Hs.250072

mRNA Expression by UniProt/SwissProt for SLC4A7 Gene:

Q9Y6M7-S4A7_HUMAN
Tissue specificity: Highly expressed in testis and spleen. Also expressed in retina, colon, small intestine, ovary, thymus, prostate, muscle, heart and kidney. Isoform 1 is expressed in skeletal muscle and heart muscle.

Evidence on tissue expression from TISSUES for SLC4A7 Gene

  • Kidney(4.5)
  • Heart(4.4)
  • Nervous system(4.4)
  • Eye(4.3)
  • Muscle(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with SLC4A7: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A7 Gene

Orthologs for SLC4A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC4A7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A7 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia SLC4A7 34 35
  • 94.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A7 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC4A7 34 35
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Slc4a7 34 16 35
  • 88.86 (n)
rat
(Rattus norvegicus)
Mammalia Slc4a7 34
  • 88.59 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A7 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A7 34 35
  • 80.85 (n)
lizard
(Anolis carolinensis)
Reptilia SLC4A7 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a7 34
  • 75.9 (n)
Str.18784 34
zebrafish
(Danio rerio)
Actinopterygii SLC4A7 35
  • 81 (a)
OneToOne
LOC568872 34
  • 68.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 36 34 35
  • 56.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009736 34
  • 54.33 (n)
worm
(Caenorhabditis elegans)
Secernentea abts-1 34 35
  • 55.22 (n)
F52B5.1 36
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for SLC4A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SLC4A7 Gene

ENSEMBL:
Gene Tree for SLC4A7 (if available)
TreeFam:
Gene Tree for SLC4A7 (if available)

Paralogs for SLC4A7 Gene

Paralogs for SLC4A7 Gene

(12) SIMAP similar genes for SLC4A7 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC4A7: view

Variants for SLC4A7 Gene

Sequence variations from dbSNP and Humsavar for SLC4A7 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000030089 -- 27,446,278(+) TAATC(A/C)CCGTT intron-variant
rs1000031601 -- 27,389,952(+) ACTGC(A/G)GCAGC nc-transcript-variant, reference, synonymous-codon
rs1000059051 -- 27,484,705(+) TATAA(C/G)CTTAA upstream-variant-2KB
rs1000059130 -- 27,396,038(+) AGATC(A/C)AGAGA intron-variant
rs1000063531 -- 27,412,029(+) CATTT(A/C)AAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC4A7 Gene

Variant ID Type Subtype PubMed ID
esv2725069 CNV deletion 23290073
esv3595661 CNV gain 21293372
nsv1073213 CNV deletion 25765185
nsv3742 CNV insertion 18451855
nsv522583 CNV loss 19592680

Variation tolerance for SLC4A7 Gene

Residual Variation Intolerance Score: 3.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.06; 80.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC4A7 Gene

Human Gene Mutation Database (HGMD)
SLC4A7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A7 Gene

Disorders for SLC4A7 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC4A7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal tubular acidosis
  • acidosis renal tubular
progesterone-receptor negative breast cancer
usher syndrome, type 3a
  • usher syndrome type 3
usher syndrome, type 2c
  • usher syndrome, type 2c, gpr98/pdzd7 digenic
usher syndrome type 2
  • ush2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC4A7

Genetic Association Database (GAD)
SLC4A7
Human Genome Epidemiology (HuGE) Navigator
SLC4A7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC4A7
genes like me logo Genes that share disorders with SLC4A7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC4A7 Gene

Publications for SLC4A7 Gene

  1. Molecular cloning of a new sodium bicarbonate cotransporter cDNA from human retina. (PMID: 9610397) Ishibashi K. … Marumo F. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. (PMID: 16301216) Reiners J. … Wolfrum U. (Hum. Mol. Genet. 2005) 3 4 22 64
  3. Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. (PMID: 14736710) Loiselle F.B. … Casey J.R. (Am. J. Physiol. 2004) 3 4 22 64
  4. The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3. (PMID: 12403779) Park M. … Kurtz I. (J. Biol. Chem. 2002) 3 4 22 64
  5. Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family. (PMID: 10347222) Pushkin A. … Kurtz I. (J. Biol. Chem. 1999) 3 4 22 64

Products for SLC4A7 Gene

Sources for SLC4A7 Gene

Content
Loading form....