Format

Send to:

Choose Destination

SLC4A2 solute carrier family 4 member 2 [ Homo sapiens (human) ]

Gene ID: 6522, updated on 13-Mar-2020

Summary

Official Symbol
SLC4A2provided by HGNC
Official Full Name
solute carrier family 4 member 2provided by HGNC
Primary source
HGNC:HGNC:11028
See related
Ensembl:ENSG00000164889 MIM:109280
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
AE2; HKB3; BND3L; NBND3; EPB3L1
Summary
This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]
Expression
Ubiquitous expression in placenta (RPKM 16.3), stomach (RPKM 13.8) and 25 other tissues See more
Orthologs

Genomic context

See SLC4A2 in Genome Data Viewer
Location:
7q36.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (151058200..151076527)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150755299..150773614)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acid sensing ion channel subunit 3 Neighboring gene cyclin dependent kinase 5 Neighboring gene Fas activated serine/threonine kinase Neighboring gene transmembrane and ubiquitin like domain containing 1

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ59028

Gene Ontology Provided by GOA

Function Evidence Code Pubs
anion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
anion:anion antiporter activity IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
inorganic anion exchanger activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
anion transport TAS
Traceable Author Statement
more info
PubMed 
bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transport TAS
Traceable Author Statement
more info
 
digestive tract development IEA
Inferred from Electronic Annotation
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 
spermatogenesis 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
 
cell IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anion exchange protein 2
Names
anion exchanger 2 type a
anion exchanger 2 type b1
anion exchanger 2 type b2
erythrocyte membrane protein band 3-like 1
non-erythroid band 3-like protein
solute carrier family 4 (anion exchanger), member 2

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_051947.1 RefSeqGene

    Range
    6390..23324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199692.2NP_001186621.1  anion exchange protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001186621.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, and encodes the same isoform (1), as compared to variant 1.
    Source sequence(s)
    AB209158, BM680391, DB065890
    Consensus CDS
    CCDS5917.1
    UniProtKB/Swiss-Prot
    P04920
    UniProtKB/TrEMBL
    Q59GF1
    Related
    ENSP00000419412.1, ENST00000485713.5
    Conserved Domains (3) summary
    TIGR00834
    Location:3241240
    ae; anion exchange protein
    pfam00955
    Location:6751167
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:359620
    Band_3_cyto; Band 3 cytoplasmic domain
  2. NM_001199693.1NP_001186622.1  anion exchange protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons from the 5' end and contains an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a shorter and different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AB209158, AK295767, BM680391
    Consensus CDS
    CCDS56520.1
    UniProtKB/Swiss-Prot
    P04920
    UniProtKB/TrEMBL
    Q59GF1
    Related
    ENSP00000376571.2, ENST00000392826.6
    Conserved Domains (3) summary
    TIGR00834
    Location:3151231
    ae; anion exchange protein
    pfam00955
    Location:6661158
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:350611
    Band_3_cyto; Band 3 cytoplasmic domain
  3. NM_001199694.2NP_001186623.1  anion exchange protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001186623.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two exons from the 5' end and contains an alternate 5' exon, as compared to variant 1. The resulting isoform (3) has a shorter and different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AB209158, BC009386, BM680391, DA237239
    Consensus CDS
    CCDS56521.1
    UniProtKB/Swiss-Prot
    P04920
    UniProtKB/TrEMBL
    Q59GF1
    Related
    ENSP00000419164.1, ENST00000461735.1
    Conserved Domains (3) summary
    TIGR00834
    Location:3101226
    ae; anion exchange protein
    pfam00955
    Location:6611153
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:345606
    Band_3_cyto; Band 3 cytoplasmic domain
  4. NM_003040.4NP_003031.3  anion exchange protein 2 isoform 1

    See identical proteins and their annotated locations for NP_003031.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same isoform (1).
    Source sequence(s)
    AK295767, AK312699, BM680391, DA103528
    Consensus CDS
    CCDS5917.1
    UniProtKB/Swiss-Prot
    P04920
    Related
    ENSP00000405600.2, ENST00000413384.7
    Conserved Domains (3) summary
    TIGR00834
    Location:3241240
    ae; anion exchange protein
    pfam00955
    Location:6751167
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:359620
    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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    151058200..151076527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716094.3XP_006716157.1  anion exchange protein 2 isoform X1

    Conserved Domains (1) summary
    pfam07565
    Location:359620
    Band_3_cyto; Band 3 cytoplasmic domain
Support Center