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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 Usher Syndrome, Type Iiia. Among its related pathways are 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 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SLC4A7 Gene

Promoters and enhancers for SLC4A7 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
GH03I027479 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 550.8 +2.0 1957 6.4 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 YY1 ETS1 GLIS2 SLC4A7 RNU1-96P NEK10 ZCWPW2 RPS20P15
GH03I027456 Promoter 0.8 EPDnew 550.3 +27.6 27649 0.1 JUND HLF ATF7 ATF2 SLC4A7 RPS20P15 GC03M027419
GH03I027485 Enhancer 0.2 ENCODE 550.8 -1.6 -1605 0.2 SLC4A7 UBA52P4 PIR51999 GC03P027486 RNU1-96P
GH03I027368 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 5.3 +115.1 115066 1.1 ATF1 ARID4B NEUROD1 SIN3A IRF4 GLIS2 ZNF207 ZNF143 FOS YY2 NEK10 SLC4A7 GC03M027342 GC03P027342
GH03I027358 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.3 +124.7 124663 3.3 PKNOX1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 FOS SP5 ZHX2 NEK10 SLC4A7 GC03M027342 GC03P027342
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC4A7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC4A7 gene promoter:

Genomic Locations for SLC4A7 Gene

Genomic Locations for SLC4A7 Gene
chr3:27,372,721-27,484,420
(GRCh38/hg38)
Size:
111,700 bases
Orientation:
Minus strand
chr3:27,414,214-27,525,911
(GRCh37/hg19)

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 posLast=736736 and isoforms=13, 6, 7, 8752
  • Glycosylation at posLast=171171, isoforms=10, 12, 7, 8269, posLast=398398, isoforms=10, 11, 12, 13, 14, 2, 3, 4, 6, 7, 8, 9406, isoforms=12, 13, 2, 3, 4, 5, 6, 7, 8, 9776, posLast=786786, and isoforms=12, 13, 2, 3, 4, 5, 6, 7, 8, 9791
  • 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.

Phenotypes From GWAS Catalog for SLC4A7 Gene

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 --
GO:0008510 sodium:bicarbonate symporter activity NAS,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:

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

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:

Clone 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

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 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia SLC4A7 33 34
  • 94.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A7 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC4A7 33 34
  • 89.13 (n)
mouse
(Mus musculus)
Mammalia Slc4a7 33 16 34
  • 88.86 (n)
rat
(Rattus norvegicus)
Mammalia Slc4a7 33
  • 88.59 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A7 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC4A7 33 34
  • 80.85 (n)
lizard
(Anolis carolinensis)
Reptilia SLC4A7 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a7 33
  • 75.9 (n)
Str.18784 33
zebrafish
(Danio rerio)
Actinopterygii SLC4A7 34
  • 81 (a)
OneToOne
LOC568872 33
  • 68.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 35 33 34
  • 56.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009736 33
  • 54.33 (n)
worm
(Caenorhabditis elegans)
Secernentea abts-1 33 34
  • 55.22 (n)
F52B5.1 35
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000030089 -- 27,446,278(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000031601 -- 27,389,952(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000059051 -- 27,484,705(-) G/C upstream_transcript_variant
rs1000059130 -- 27,396,038(-) A/C intron_variant
rs1000063531 -- 27,412,029(-) C/A 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)

Additional Variant Information 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

(5) MalaCards diseases for SLC4A7 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
renal tubular acidosis
  • acidosis renal tubular
usher syndrome, type iiia
  • ush3a
usher syndrome, type iic
  • ush2c
usher syndrome type 2
  • ush2
usher syndrome
  • retinitis pigmentosa-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC4A7

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 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 (Biochemical and biophysical research communications 1998) 2 3 4 22 58
  2. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. (PMID: 16301216) Reiners J … Wolfrum U (Human molecular genetics 2005) 3 4 22 58
  3. Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. (PMID: 14736710) Loiselle FB … Casey JR (American journal of physiology. Cell physiology 2004) 3 4 22 58
  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 (The Journal of biological chemistry 2002) 3 4 22 58
  5. Mapping of the human NBC3 (SLC4A7) gene to chromosome 3p22. (PMID: 10198178) Pushkin A … Kurtz I (Genomics 1999) 2 3 22 58

Products for SLC4A7 Gene

Sources for SLC4A7 Gene

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