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Aliases for SLC4A2 Gene

Aliases for SLC4A2 Gene

  • Solute Carrier Family 4 Member 2 2 3 4 5
  • Solute Carrier Family 4 (Anion Exchanger), Member 2 2 3
  • Erythrocyte Membrane Protein Band 3-Like 1 2 3
  • Non-Erythroid Band 3-Like Protein 3 4
  • Anion Exchanger 2 Type B1 2 3
  • Anion Exchanger 2 Type B2 2 3
  • Anion Exchanger 2 Type A 2 3
  • EPB3L1 3 4
  • BND3L 3 4
  • HKB3 3 4
  • AE2 3 4
  • Solute Carrier Family 4, Anion Exchanger, Member 2 (Erythrocyte Membrane Protein Band 3-Like 1) 2
  • Anion Exchange Protein 2 3
  • Anion Exchanger 2 4
  • NBND3 3
  • MPB3L 4
  • AE 2 4

External Ids for SLC4A2 Gene

Previous HGNC Symbols for SLC4A2 Gene

  • EPB3L1
  • AE2

Previous GeneCards Identifiers for SLC4A2 Gene

  • GC07P149003
  • GC07P150072
  • GC07P150148
  • GC07P150194
  • GC07P150387
  • GC07P150754
  • GC07P144569

Summaries for SLC4A2 Gene

Entrez Gene Summary for SLC4A2 Gene

  • 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]

GeneCards Summary for SLC4A2 Gene

SLC4A2 (Solute Carrier Family 4 Member 2) is a Protein Coding gene. Diseases associated with SLC4A2 include Primary Biliary Cirrhosis and Autoimmune Disease Of Urogenital Tract. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. GO annotations related to this gene include transporter activity and anion transmembrane transporter activity. An important paralog of this gene is SLC4A3.

UniProtKB/Swiss-Prot for SLC4A2 Gene

  • Plasma membrane anion exchange protein of wide distribution.

Gene Wiki entry for SLC4A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A2 Gene

Genomics for SLC4A2 Gene

Regulatory Elements for SLC4A2 Gene

Enhancers for SLC4A2 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
GH07G151007 2 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -46.1 -46084 7.7 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ZFP64 ARID4B DMAP1 SLC30A9 NOS3 KCNH2 ASIC3 SLC4A2 CDK5 FASTK ENSG00000244151 TMUB1 AGAP3 GBX1
GH07G151084 1.4 FANTOM5 ENCODE 13.6 +30.6 30578 5.9 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 GLIS1 NBN ABCB8 SLC4A2 AGAP3 FASTK CDK5 ASIC3 SMARCD3 GBX1 ASB10 ENSG00000243433
GH07G150968 1.7 VISTA Ensembl ENCODE dbSUPER 11.1 -86.4 -86384 4.7 HDAC1 HDGF PKNOX1 BMI1 ZNF766 CBX5 EGR1 ETV6 RELB IKZF2 AOC1 ATG9B ABCB8 ENSG00000243433 SLC4A2 TMUB1 AGAP3 ENSG00000244151 FASTK KCNH2
GH07G151017 1.6 Ensembl ENCODE dbSUPER 11.5 -38.8 -38836 2.0 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B DMAP1 ZNF2 ZBTB7B YY1 ABCB8 NOS3 KCNH2 ASIC3 SLC4A2 CDK5 TMUB1 AGAP3 ENSG00000244151 FASTK
GH07G150973 1.6 Ensembl ENCODE dbSUPER 11.1 -82.6 -82581 2.8 HDGF ARNT CREB3L1 SIN3A ZNF2 FOS KLF13 SP3 JUNB REST ATG9B ABCB8 ENSG00000243433 SLC4A2 AOC1 ENSG00000244151 TMUB1 FASTK AGAP3 KCNH2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC4A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC4A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000329085 790 1201 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A FEZF1

Genomic Location for SLC4A2 Gene

Chromosome:
7
Start:
151,057,210 bp from pter
End:
151,076,527 bp from pter
Size:
19,318 bases
Orientation:
Plus strand

Genomic View for SLC4A2 Gene

Genes around SLC4A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A2 Gene

Proteins for SLC4A2 Gene

  • Protein details for SLC4A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04920-B3A2_HUMAN
    Recommended name:
    Anion exchange protein 2
    Protein Accession:
    P04920
    Secondary Accessions:
    • B2R6T0
    • B4DIT0
    • D3DX05
    • F8W682
    • Q45EY5
    • Q969L3

    Protein attributes for SLC4A2 Gene

    Size:
    1241 amino acids
    Molecular mass:
    137009 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC4A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A2 Gene

Post-translational modifications for SLC4A2 Gene

  • Ubiquitination at isoforms=3, 2, 1658
  • Glycosylation at isoforms=3, 2859, Asn868, and Asn882
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC4A2 Gene

Domains & Families for SLC4A2 Gene

Gene Families for SLC4A2 Gene

Graphical View of Domain Structure for InterPro Entry

P04920

UniProtKB/Swiss-Prot:

B3A2_HUMAN :
  • Belongs to the anion exchanger (TC 2.A.31) family.
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A2: view

Function for SLC4A2 Gene

Molecular function for SLC4A2 Gene

GENATLAS Biochemistry:
solute carrier family 4 (chloride-bicarbonate,anion exchange),member 2
UniProtKB/Swiss-Prot Function:
Plasma membrane anion exchange protein of wide distribution.

Gene Ontology (GO) - Molecular Function for SLC4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005452 inorganic anion exchanger activity TAS --
GO:0008509 anion transmembrane transporter activity TAS 3015590
GO:0015297 antiporter activity IEA --
GO:0015301 anion:anion antiporter activity IEA --
GO:0019899 enzyme binding IEA --
genes like me logo Genes that share ontologies with SLC4A2: view
genes like me logo Genes that share phenotypes with SLC4A2: view

Animal Models for SLC4A2 Gene

MGI Knock Outs for SLC4A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC4A2

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC4A2 Gene

Localization for SLC4A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A2 Gene

Membrane; Multi-pass membrane protein.

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 SLC4A2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA,TAS 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC4A2: view

Pathways & Interactions for SLC4A2 Gene

genes like me logo Genes that share pathways with SLC4A2: view

Gene Ontology (GO) - Biological Process for SLC4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006820 anion transport TAS 3015590
GO:0007283 spermatogenesis IEA --
GO:0015698 inorganic anion transport IEA --
genes like me logo Genes that share ontologies with SLC4A2: view

No data available for SIGNOR curated interactions for SLC4A2 Gene

Drugs & Compounds for SLC4A2 Gene

(3) Drugs for SLC4A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for SLC4A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC4A2: view

Transcripts for SLC4A2 Gene

Unigene Clusters for SLC4A2 Gene

Solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - -
SP5: - - - - - - - - -
SP6:
SP7: - - - - - - -
SP8: -
SP9:
SP10: - - - - -
SP11: - - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - - -

ExUns: 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17: -
SP18:
SP19:

ExUns: 30a · 30b ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for SLC4A2 Gene

GeneLoc Exon Structure for
SLC4A2
ECgene alternative splicing isoforms for
SLC4A2

Expression for SLC4A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC4A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC4A2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.6), Stomach (12.1), and Placenta (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC4A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC4A2 Gene:

SLC4A2

SOURCE GeneReport for Unigene cluster for SLC4A2 Gene:

Hs.647069

Evidence on tissue expression from TISSUES for SLC4A2 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Pancreas(2.5)
  • Eye(2.4)
  • Intestine(2.2)
  • Kidney(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with SLC4A2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A2 Gene

Orthologs for SLC4A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC4A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A2 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia SLC4A2 34 35
  • 90.35 (n)
cow
(Bos Taurus)
Mammalia SLC4A2 34 35
  • 89.81 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC4A2 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc4a2 34
  • 87.91 (n)
mouse
(Mus musculus)
Mammalia Slc4a2 34 16 35
  • 87.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 30 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC4A2 34 35
  • 78.09 (n)
lizard
(Anolis carolinensis)
Reptilia SLC4A2 35
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc4a2b 34 35
  • 67.46 (n)
slc4a2a 35
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006115 34
  • 57.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8177 36 34 35
  • 54.07 (n)
worm
(Caenorhabditis elegans)
Secernentea abts-4 35
  • 28 (a)
OneToMany
R03E9.3 36
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 35
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06450 34
  • 42.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for SLC4A2 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC4A2 Gene

ENSEMBL:
Gene Tree for SLC4A2 (if available)
TreeFam:
Gene Tree for SLC4A2 (if available)

Paralogs for SLC4A2 Gene

Variants for SLC4A2 Gene

Sequence variations from dbSNP and Humsavar for SLC4A2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs375977483 Uncertain significance 151,066,584(+) ACGAC(A/G)GGGGT reference, missense
rs376056989 Uncertain significance 151,064,244(+) TCCCC(A/G)AGCAG reference, missense
rs387907518 Uncertain significance 151,076,091(+) CCACA(A/G)CTGCC reference, missense
rs387907519 Uncertain significance 151,071,739(+) CCACA(G/T)CGCTC downstream-variant-500B, reference, missense
rs387907520 Uncertain significance 151,075,646(+) ATCCC(C/T)CTGGC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SLC4A2 Gene

Variant ID Type Subtype PubMed ID
dgv11724n54 CNV loss 21841781
dgv3695n106 OTHER inversion 24896259
dgv6756n100 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv465215 CNV loss 19166990
nsv517508 CNV loss 19592680
nsv524928 CNV gain 19592680
nsv526410 CNV loss 19592680
nsv6004 CNV insertion 18451855
nsv831188 CNV loss 17160897
nsv951648 CNV deletion 24416366

Variation tolerance for SLC4A2 Gene

Residual Variation Intolerance Score: 3.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.41; 71.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC4A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A2 Gene

Disorders for SLC4A2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC4A2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
primary biliary cirrhosis
  • biliary liver cirrhosis
autoimmune disease of urogenital tract
cataract 14, multiple types
  • cataract 14 multiple types
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC4A2

Genetic Association Database (GAD)
SLC4A2
Human Genome Epidemiology (HuGE) Navigator
SLC4A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC4A2
genes like me logo Genes that share disorders with SLC4A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC4A2 Gene

Publications for SLC4A2 Gene

  1. Genetic factors of susceptibility and of severity in primary biliary cirrhosis. (PMID: 18930330) Poupon R. … Barbu V. (J. Hepatol. 2008) 3 22 46 64
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for SLC4A2 Gene

Sources for SLC4A2 Gene

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