SLC4A2
Anion exchange protein 2
Also known as: AE2, B3A2_HUMAN, BND3L, EPB3L1, HKB3, NBND3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P04920
- Gene
- SLC4A2
- Ensembl
- ENSG00000164889
- Chromosome
- 7
- Canonical length
- 1241 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nuclear speckles,Plasma membrane,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1241 residues, UniProt reviewed canonical sequence.
>P04920|SLC4A2
1 MSSAPRRPAK GADSFCTPEP ESLGPGTPGF PEQEEDELHR TLGVERFEEI LQEAGSRGGE
61 EPGRSYGEED FEYHRQSSHH IHHPLSTHLP PDARRRKTPQ GPGRKPRRRP GASPTGETPT
121 IEEGEEDEDE ASEAEGARAL TQPSPVSTPS SVQFFLQEDD SADRKAERTS PSSPAPLPHQ
181 EATPRASKGA QAGTQVEEAE AEAVAVASGT AGGDDGGASG RPLPKAQPGH RSYNLQERRR
241 IGSMTGAEQA LLPRVPTDEI EAQTLATADL DLMKSHRFED VPGVRRHLVR KNAKGSTQSG
301 REGREPGPTP RARPRAPHKP HEVFVELNEL LLDKNQEPQW RETARWIKFE EDVEEETERW
361 GKPHVASLSF RSLLELRRTL AHGAVLLDLD QQTLPGVAHQ VVEQMVISDQ IKAEDRANVL
421 RALLLKHSHP SDEKDFSFPR NISAGSLGSL LGHHHGQGAE SDPHVTEPLM GGVPETRLEV
481 ERERELPPPA PPAGITRSKS KHELKLLEKI PENAEATVVL VGCVEFLSRP TMAFVRLREA
541 VELDAVLEVP VPVRFLFLLL GPSSANMDYH EIGRSISTLM SDKQFHEAAY LADEREDLLT
601 AINAFLDCSV VLPPSEVQGE ELLRSVAHFQ RQMLKKREEQ GRLLPTGAGL EPKSAQDKAL
661 LQMVEAAGAA EDDPLRRTGR PFGGLIRDVR RRYPHYLSDF RDALDPQCLA AVIFIYFAAL
721 SPAITFGGLL GEKTQDLIGV SELIMSTALQ GVVFCLLGAQ PLLVIGFSGP LLVFEEAFFS
781 FCSSNHLEYL VGRVWIGFWL VFLALLMVAL EGSFLVRFVS RFTQEIFAFL ISLIFIYETF
841 YKLVKIFQEH PLHGCSASNS SEVDGGENMT WAGARPTLGP GNRSLAGQSG QGKPRGQPNT
901 ALLSLVLMAG TFFIAFFLRK FKNSRFFPGR IRRVIGDFGV PIAILIMVLV DYSIEDTYTQ
961 KLSVPSGFSV TAPEKRGWVI NPLGEKSPFP VWMMVASLLP AILVFILIFM ETQITTLIIS
1021 KKERMLQKGS GFHLDLLLIV AMGGICALFG LPWLAAATVR SVTHANALTV MSKAVAPGDK
1081 PKIQEVKEQR VTGLLVALLV GLSIVIGDLL RQIPLAVLFG IFLYMGVTSL NGIQFYERLH
1141 LLLMPPKHHP DVTYVKKVRT LRMHLFTALQ LLCLALLWAV MSTAASLAFP FILILTVPLR
1201 MVVLTRIFTD REMKCLDANE AEPVFDEREG VDEYNEMPMP VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC4A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 10
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 265 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 265 nTPM
- stomach: 71 nTPM
- parathyroid gland: 68 nTPM
- pancreas: 50 nTPM
- liver: 47 nTPM
- colon: 40 nTPM
Single-cell type
- retinal pigment epithelial cells: 333 nCPM
- choroid plexus epithelial cells: 329 nCPM
- parietal cells: 170 nCPM
- syncytiotrophoblasts: 127 nCPM
- alveolar cells type 1: 59 nCPM
- tuft cells: 46 nCPM
Immune cell
- plasmacytoid DC: 2.1 nTPM
- classical monocyte: 1.6 nTPM
- intermediate monocyte: 1.6 nTPM
- myeloid DC: 1 nTPM
- non-classical monocyte: 1 nTPM
- memory B-cell: 0.9 nTPM
Brain region
- choroid plexus: 1,044 nTPM
- hippocampal formation: 82 nTPM
- white matter: 80 nTPM
- medulla oblongata: 69 nTPM
- thalamus: 68 nTPM
- pons: 61 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC4A2.
Disease | AllUniProt
Conditions SLC4A2 is implicated in, by any mechanism.
- Osteopetrosis, autosomal recessive 9 (OPTB9) MIM:620366
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 219 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteopetrosis, autosomal recessive 9
- Distal renal tubular acidosis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.3
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.97
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- amelogenesis
- bicarbonate transport
- digestive tract development
- monoatomic anion transport
- negative regulation of CD8-positive, alpha-beta T cell differentiation
- negative regulation of CD8-positive, alpha-beta T cell proliferation
- osteoclast differentiation
- positive regulation of enamel mineralization
- regulation of actin cytoskeleton organization
- regulation of bone resorption
- regulation of intracellular pH
- spermatogenesis
- transmembrane transport
Molecular functions
- chloride:bicarbonate antiporter activity
- enzyme binding
- monoatomic anion transmembrane transporter activity
- solute:inorganic anion antiporter activity
- transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC4A2 as an antibody target. Whether an autoantibody or antibody against SLC4A2 could matter depends on whether native SLC4A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC4A2 is annotated at the cell surface, where native SLC4A2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC4A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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