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SLC4A7 solute carrier family 4 member 7 [ Homo sapiens (human) ]

Gene ID: 9497, updated on 17-Jun-2019

Summary

Official Symbol
SLC4A7provided by HGNC
Official Full Name
solute carrier family 4 member 7provided by HGNC
Primary source
HGNC:HGNC:11033
See related
Ensembl:ENSG00000033867 MIM:603353
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NBC2; NBC3; SBC2; NBCN1; SLC4A6
Summary
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]
Expression
Ubiquitous expression in duodenum (RPKM 27.5), small intestine (RPKM 8.8) and 20 other tissues See more
Orthologs

Genomic context

See SLC4A7 in Genome Data Viewer
Location:
3p24.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (27372721..27484420, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (27414212..27525911, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NIMA related kinase 10 Neighboring gene uncharacterized LOC105377004 Neighboring gene RNA, U6 small nuclear 342, pseudogene Neighboring gene ribosomal protein S20 pseudogene 15 Neighboring gene uncharacterized LOC105377005 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 4 Neighboring gene RNA, U1 small nuclear 96, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
NHGRI GWA Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC4A7 PubMed
Knockdown of solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686H168

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inorganic anion exchanger activity IEA
Inferred from Electronic Annotation
more info
 
sodium:bicarbonate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:bicarbonate symporter activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
auditory receptor cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transport NAS
Non-traceable Author Statement
more info
PubMed 
bicarbonate transport TAS
Traceable Author Statement
more info
 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
stereocilium IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sodium bicarbonate cotransporter 3
Names
bicarbonate transporter
electroneutral Na/HCO(3) cotransporter
sodium bicarbonate cotransporter 2
sodium bicarbonate cotransporter 2b
solute carrier family 4, sodium bicarbonate cotransporter, member 7

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032673.1 RefSeqGene

    Range
    32667..116700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258379.2NP_001245308.1  sodium bicarbonate cotransporter 3 isoform b

    See identical proteins and their annotated locations for NP_001245308.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant has additional differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AA569234, AK310865, AL389947, CR627428, DA756057, EU499349, EU934246
    Consensus CDS
    CCDS58820.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000407382.1, ENST00000455077.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1181016
    ae; anion exchange protein
    pfam00955
    Location:456969
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146413
    Band_3_cyto; Band 3 cytoplasmic domain
  2. NM_001258380.2NP_001245309.1  sodium bicarbonate cotransporter 3 isoform c

    See identical proteins and their annotated locations for NP_001245309.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AA569234, AC099535, AF089726, AK310865, AL389947, EU934250
    Consensus CDS
    CCDS58819.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000416368.1, ENST00000428386.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1131011
    ae; anion exchange protein
    pfam00955
    Location:451964
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141408
    Band_3_cyto; Band 3 cytoplasmic domain
  3. NM_001321103.2NP_001308032.1  sodium bicarbonate cotransporter 3 isoform d

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934248, EU934249, FJ178574
    Consensus CDS
    CCDS82747.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000390394.1, ENST00000454389.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1221144
    ae; anion exchange protein
    pfam00955
    Location:5841097
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150541
    Band_3_cyto; Band 3 cytoplasmic domain
  4. NM_001321104.2NP_001308033.1  sodium bicarbonate cotransporter 3 isoform e

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU934250
    Consensus CDS
    CCDS82749.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000414797.1, ENST00000440156.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1221131
    ae; anion exchange protein
    pfam00955
    Location:5711084
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150528
    Band_3_cyto; Band 3 cytoplasmic domain
  5. NM_001321105.2NP_001308034.1  sodium bicarbonate cotransporter 3 isoform f

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934247, EU934249, FJ178574
    Consensus CDS
    CCDS82748.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    UniProtKB/TrEMBL
    B5M450, E9PFN4
    Related
    ENSP00000406804.1, ENST00000445684.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1221131
    ae; anion exchange protein
    pfam00955
    Location:5711084
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150528
    Band_3_cyto; Band 3 cytoplasmic domain
  6. NM_001321106.2NP_001308035.1  sodium bicarbonate cotransporter 3 isoform g

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249, FJ178574
    Consensus CDS
    CCDS82751.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000406605.1, ENST00000446700.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1181127
    ae; anion exchange protein
    pfam00955
    Location:5671080
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146524
    Band_3_cyto; Band 3 cytoplasmic domain
  7. NM_001321107.2NP_001308036.1  sodium bicarbonate cotransporter 3 isoform h

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249
    Consensus CDS
    CCDS82750.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000394252.1, ENST00000437179.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1181016
    ae; anion exchange protein
    pfam00955
    Location:456969
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146413
    Band_3_cyto; Band 3 cytoplasmic domain
  8. NM_001321108.2NP_001308037.1  sodium bicarbonate cotransporter 3 isoform i

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249, GU354308
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Conserved Domains (3) summary
    TIGR00834
    Location:1221020
    ae; anion exchange protein
    pfam00955
    Location:460973
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150417
    Band_3_cyto; Band 3 cytoplasmic domain
  9. NM_003615.5NP_003606.3  sodium bicarbonate cotransporter 3 isoform a

    See identical proteins and their annotated locations for NP_003606.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant encodes isoform a.
    Source sequence(s)
    AA569234, AC099535, AF047033, AK310865, AL389947, EU934250
    Consensus CDS
    CCDS33721.1
    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000295736.5, ENST00000295736.9
    Conserved Domains (3) summary
    TIGR00834
    Location:1131135
    ae; anion exchange protein
    pfam00955
    Location:5751088
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141532
    Band_3_cyto; Band 3 cytoplasmic domain

RNA

  1. NR_135541.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, FJ178574
  2. NR_135542.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, FJ178574, FJ178575
  3. NR_135543.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, FJ178574, FJ178575
  4. NR_135544.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249, FJ178574, GU354307

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    27372721..27484420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007527.2XP_016863016.1  sodium bicarbonate cotransporter 3 isoform X8

  2. XM_006713421.3XP_006713484.1  sodium bicarbonate cotransporter 3 isoform X1

    Conserved Domains (3) summary
    TIGR00834
    Location:1181140
    ae; anion exchange protein
    pfam00955
    Location:5801093
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:146537
    Band_3_cyto; Band 3 cytoplasmic domain
  3. XM_011534258.2XP_011532560.1  sodium bicarbonate cotransporter 3 isoform X3

    Conserved Domains (3) summary
    TIGR00834
    Location:1221144
    ae; anion exchange protein
    pfam00955
    Location:5841097
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150541
    Band_3_cyto; Band 3 cytoplasmic domain
  4. XM_011534263.3XP_011532565.1  sodium bicarbonate cotransporter 3 isoform X7

    Conserved Domains (3) summary
    TIGR00834
    Location:1221007
    ae; anion exchange protein
    pfam00955
    Location:447960
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150404
    Band_3_cyto; Band 3 cytoplasmic domain
  5. XM_011534265.2XP_011532567.1  sodium bicarbonate cotransporter 3 isoform X10

    Conserved Domains (3) summary
    TIGR00834
    Location:1221020
    ae; anion exchange protein
    pfam00955
    Location:460973
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:150417
    Band_3_cyto; Band 3 cytoplasmic domain
  6. XM_017007526.2XP_016863015.1  sodium bicarbonate cotransporter 3 isoform X5

  7. XM_011534261.3XP_011532563.1  sodium bicarbonate cotransporter 3 isoform X4

    Conserved Domains (3) summary
    TIGR00834
    Location:1131122
    ae; anion exchange protein
    pfam00955
    Location:5621075
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141519
    Band_3_cyto; Band 3 cytoplasmic domain
  8. XM_011534256.3XP_011532558.1  sodium bicarbonate cotransporter 3 isoform X2

    Conserved Domains (3) summary
    TIGR00834
    Location:1131135
    ae; anion exchange protein
    pfam00955
    Location:5751088
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141532
    Band_3_cyto; Band 3 cytoplasmic domain
  9. XM_005265600.5XP_005265657.1  sodium bicarbonate cotransporter 3 isoform X9

    Conserved Domains (3) summary
    TIGR00834
    Location:113998
    ae; anion exchange protein
    pfam00955
    Location:438951
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141395
    Band_3_cyto; Band 3 cytoplasmic domain
  10. XM_017007529.1XP_016863018.1  sodium bicarbonate cotransporter 3 isoform X11

    UniProtKB/Swiss-Prot
    Q9Y6M7
    Related
    ENSP00000411031.1, ENST00000419036.5
  11. XM_017007528.1XP_016863017.1  sodium bicarbonate cotransporter 3 isoform X11

    UniProtKB/Swiss-Prot
    Q9Y6M7
  12. XM_005265598.5XP_005265655.1  sodium bicarbonate cotransporter 3 isoform X6

    Conserved Domains (3) summary
    TIGR00834
    Location:1131011
    ae; anion exchange protein
    pfam00955
    Location:451964
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141408
    Band_3_cyto; Band 3 cytoplasmic domain

RNA

  1. XR_001740372.2 RNA Sequence

  2. XR_001740371.2 RNA Sequence

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