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SLC4A5 solute carrier family 4 member 5 [ Homo sapiens (human) ]

Gene ID: 57835, updated on 4-Jun-2020

Summary

Official Symbol
SLC4A5provided by HGNC
Official Full Name
solute carrier family 4 member 5provided by HGNC
Primary source
HGNC:HGNC:18168
See related
Ensembl:ENSG00000188687 MIM:606757
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
NBC4; NBCe2
Summary
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]
Expression
Broad expression in thyroid (RPKM 9.5), testis (RPKM 8.1) and 14 other tissues See more
Orthologs

Genomic context

See SLC4A5 in Genome Data Viewer
Location:
2p13.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74216242..74343416, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74441997..74570534, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene BOLA3 divergent transcript Neighboring gene MOB kinase activator 1A Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase Neighboring gene keratin 18 pseudogene 26 Neighboring gene RNA, U6 small nuclear 542, pseudogene Neighboring gene NECAP endocytosis associated 1 pseudogene 2 Neighboring gene TATA-box binding protein associated factor 13 pseudogene 2

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DCTN1

Homology

Clone Names

  • MGC129662

Gene Ontology Provided by GOA

Function Evidence Code Pubs
anion:anion antiporter activity IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
cerebrospinal fluid secretion IEA
Inferred from Electronic Annotation
more info
 
epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
inorganic anion transport IEA
Inferred from Electronic Annotation
more info
 
mitochondrion distribution IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
renal system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
electrogenic sodium bicarbonate cotransporter 4
Names
solute carrier family 4 (sodium bicarbonate cotransporter), member 5

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_032663.1 RefSeqGene

    Range
    4992..132166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021196.3NP_067019.3  electrogenic sodium bicarbonate cotransporter 4 isoform a

    See identical proteins and their annotated locations for NP_067019.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes the longer isoform (a)
    Source sequence(s)
    AF243499, AF293337
    Consensus CDS
    CCDS1936.1
    UniProtKB/Swiss-Prot
    Q9BY07
    Related
    ENSP00000366861.4, ENST00000377634.8
    Conserved Domains (3) summary
    TIGR00834
    Location:1141070
    ae; anion exchange protein
    pfam00955
    Location:4881023
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141408
    Band_3_cyto; Band 3 cytoplasmic domain
  2. NM_133478.3NP_597812.1  electrogenic sodium bicarbonate cotransporter 4 isoform c

    See identical proteins and their annotated locations for NP_597812.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks an internal exon in the coding region as compared to variant a. Variant c encodes a protein that lacks a 16 aa internal segment.
    Source sequence(s)
    AC006030, AF293337, DB455137
    Consensus CDS
    CCDS1937.1
    UniProtKB/Swiss-Prot
    Q9BY07
    Related
    ENSP00000377587.2, ENST00000394019.6
    Conserved Domains (3) summary
    TIGR00834
    Location:1141054
    ae; anion exchange protein
    pfam00955
    Location:4881007
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:141408
    Band_3_cyto; Band 3 cytoplasmic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    74216242..74343416 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033323.2: Suppressed sequence

    Description
    NM_033323.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_133479.1: Suppressed sequence

    Description
    NM_133479.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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