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GIFtS
-

SLC4A2 Gene

protein-coding GIFtS: 62
GCID: GC07P150754

solute carrier family 4, anion exchanger, member 2 (erythrocyte...

(Previous symbols: EPB3L1, AE2)

Explore 21 diseases affiliated with
SLC4A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 4, Anion Exchanger, Member 2 (Erythrocyte Membrane Protein Band 3-Like 1)¹ ²		AE 2² ³
AE2¹ ² ³ ⁵		Anion Exchange Protein 2²
EPB3L1¹ ² ³ ⁵		Anion Exchanger 2 Type A²
BND3L¹ ² ³		Anion Exchanger 2 Type B1²
HKB3¹ ² ³		Anion Exchanger 2 Type B2²
NBND3¹ ²		MPB3L³
Non-Erythroid Band 3-Like Protein² ³		Anion Exchanger 2³
Solute Carrier Family 4 Member 2² ³

External Ids:	HGNC: 11028¹	Entrez Gene: 6522²	Ensembl: ENSG00000164889⁷	OMIM: 109280⁵	UniProtKB: P04920³

Export aliases for SLC4A2 gene to outside databases

Previous GC identifers: GC07P149003 GC07P150072 GC07P150148 GC07P150194 GC07P150387 GC07P144569

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920

Function: Plasma membrane anion exchange protein of wide distribution

Gene Wiki entry for SLC4A2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC4A2 gene promoter:
E2F-4 E2F-3a E2F-5 p53 p300 E2F-2 E2F E2F-1 HOXA5 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): SLC4A2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC4A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC4A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q36.1 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q36.1

SLC4A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC4A2 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P150754: view genomic region (about GC identifiers)

Start:	150,754,297 bp from pter	End:	150,773,614 bp from pter
Size:	19,318 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 150,086,196-150,103,154

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920 (See protein sequence)

Recommended Name: Anion exchange protein 2

Size: 1241 amino acids; 137009 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: B2R6T0 B4DIT0 D3DX05 F8W682 Q45EY5 Q969L3

Alternative splicing: 3 isoforms: P04920-1 P04920-2 P04920-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC4A2: NX_P04920

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P04920

SLC4A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001186621.1 NP_001186622.1 NP_001186623.1 NP_003031.3

ENSEMBL proteins:

ENSP00000417808 ENSP00000419412 ENSP00000405600 ENSP00000418114 ENSP00000419379

ENSP00000418584 ENSP00000417221 ENSP00000376571 ENSP00000419164 ENSP00000311402

Reactome Protein details: P04920
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant SLC4A2 Protein
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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SLC4A2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	TAS	3015590
GO:0016021	integral to membrane	IEA	--
GO:0016323	basolateral plasma membrane	IEA	--

SLC4A2 for ontologies About GeneDecksing

SLC4A2 Antibody Products:

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	Uscn Antibodies for SLC4A2
	Search ThermoFisher Antibodies for SLC4A2

Assay Products for SLC4A2:

	Browse Kits and Assays available from EMD Millipore
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	Uscn ELISAs and CLIAs for SLC4A2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC4A2 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR001717 Anion_exchange

IPR011531 HCO3_transpt_C

IPR003020 HCO3_transpt_euk

IPR016152 PTrfase/Anion_transptr

IPR018241 Anion_exchange_CS

Graphical View of Domain Structure for InterPro Entry P04920

ProtoNet protein and cluster: P04920

3 Blocks protein families:

IPB001717 Anion exchange protein

IPB002978 Anion exchanger isoform 2 signature

IPB013769 HCO3- transporter

UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920

Similarity: Belongs to the anion exchanger (TC 2.A.31) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: B3A2_HUMAN, P04920

Function: Plasma membrane anion exchange protein of wide distribution

Genatlas biochemistry entry for SLC4A2:

solute carrier family 4 (chloride-bicarbonate,anion exchange),member 2

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		hsa-miR-944
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005452	inorganic anion exchanger activity	IEA	--
GO:0008509	anion transmembrane transporter activity	TAS	3015590
GO:0015108	chloride transmembrane transporter activity	IEA	--

SLC4A2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SLC4A2:

Small cells

Animal Models:
Mouse knock-outs for SLC4A2: Slc4a2^tm1Jmed Slc4a2^tm1Ges
12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Slc4a2):

behavior/neurological	cellular	craniofacial	digestive/alimentary	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	homeostasis/metabolism	mortality/aging	normal
reproductive system	skeleton

SLC4A2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Gastric acid secretion

Gastric acid secretion

1.00

Salivary secretion

0.35

Bicarbonate transporters

Bicarbonate transporters

1.00

Selected targets of GCR-alpha

Selected targets of GCR-alpha

1.00

Selected targets of HNF1

Selected targets of HNF1

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SLC4A2

	Selected targets of GCR-alpha
	Selected targets of HNF1

4 Reactome Pathways for SLC4A2

	Bicarbonate transporters
	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Transport of inorganic cations/anions and amino acids/oligopeptides

4 Kegg Pathways (Kegg details for SLC4A2):

	Salivary secretion
	Gastric acid secretion
	Pancreatic secretion
	Bile secretion

SLC4A2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC4A2

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for SLC4A2 (P04920³ ENSP00000311402⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CA2	P00918³, ENSP00000285379⁴	I2D: score=2 STRING: ENSP00000285379
EPB42	P16452³, ENSP00000300215⁴	I2D: score=1 STRING: ENSP00000300215
LIN54	Q6MZP7³, ENSP00000341947⁴	I2D: score=1 STRING: ENSP00000341947
SLC26A7	ENSP00000309504⁴	STRING: ENSP00000309504
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	TAS	--
GO:0006820	anion transport	TAS	3015590
GO:0006821	chloride transport	--	--
GO:0015701	bicarbonate transport	TAS	--
GO:0055085	transmembrane transport	TAS	--

SLC4A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC4A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC4A2
10/14 Novoseek chemical compound relationships for SLC4A2 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bicarbonate	80	28	12791678 (3), 8188169 (2), 19157624 (1), 9587054 (1) (see all 19)
dids	78.8	4	16911539 (1), 20180022 (1), 17018029 (1)
stilbene	55.4	4	8458871 (1), 12791678 (1), 7744759 (1)
chloride	53.9	6	8188169 (1), 11248201 (1), 11006093 (1), 14673180 (1) (see all 5)
calmidazolium	52.1	3	12529246 (2)
amiloride	48.4	1	7840148 (1)
ammonium	31.7	5	9142848 (2), 12027221 (1)
sulfate	28.3	8	7499397 (2), 7744759 (2), 10452823 (1)
arsenite	25.7	8	16911539 (3), 17018029 (3)
glyceraldehyde 3-phosphate	20.2	2	10362722 (1), 11875273 (1)

Search CenterWatch for drugs/clinical trials and news about SLC4A2 / B3A2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC4A2 gene (4 alternative transcripts):

NM_001199692.1 NM_001199693.1 NM_001199694.1 NM_003040.3

Unigene Cluster for SLC4A2:

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

Hs.647069 [show with all ESTs]

Unigene Representative Sequence: NM_001199692

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000483786 ENST00000466368 ENST00000485713(uc022apz.1) ENST00000413384(uc003wit.4)

ENST00000494125 ENST00000490898 ENST00000482950 ENST00000463414 ENST00000488420

ENST00000392826(uc011kve.2) ENST00000461735(uc003wiu.4) ENST00000469355

ENST00000494298 ENST00000480107 ENST00000493040 ENST00000460010 ENST00000482697

ENST00000472204

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC4A2:
		hsa-miR-944
		SwitchGear 3'UTR luciferase reporter plasmid: SLC4A2 3' UTR sequence

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Additional cDNA sequence:

AB209158.1 AK295767.1 AK296065.1 AK312699.1 AY927498.1 BC004893.2 BC009386.2 BC009434.1

BC010069.2 BC028601.2 U62531.1 X03918.1 X62137.1

24/27 DOTS entries (see all 27):

DT.101958385 DT.314587 DT.100811691 DT.101982432 DT.100811689 DT.100811688 DT.92451257 DT.100811695

DT.121074402 DT.121074494 DT.100803372 DT.75103240 DT.121074407 DT.429193 DT.100030864 DT.100811683

DT.100811692 DT.100811696 DT.100837807 DT.121074451 DT.121074472 DT.92018572 DT.95157114 DT.95157121

24/346 AceView cDNA sequences (see all 346):

BE408741 AU124868 BM141907 AL121219 CA489368 BQ690232 BF724738 BC009434

BE259443 BX394120 BM470631 BC010069 BC004893 CR602751 BM141651 AA078194

CD616179 CB217055 BG398296 CA454477 BI256256 BE877395 BM014409 BG397371

GeneLoc Exon Structure

5/19 Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A2 (see all 19) About this scheme

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:															-				-		-		-		-		-		-																		-		-

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:																					-										-

ExUns:	30a	·	30b	^	31	^	32
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SLC4A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC4A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCTCCCTC

About this image

SLC4A2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Selective marker (cell-identifying gene)

Choroid Plexus

Liver

Intrahepatic Biliary Tree

Biliary Epithelial Cells

Liver

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SLC4A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC4A2

SOURCE GeneReport for Unigene cluster: Hs.647069

SABiosciences Custom PCR Arrays for SLC4A2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC4A2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC4A2 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC4A2¹	solute carrier family 4, anion exchanger, member 2 more	77.71(n) 80.45(a)		395809 NM_204963.1 NP_990294.1
lizard (Anolis carolinensis)	Reptilia	SLC4A2⁶	--	57(a)	1 ↔ 1	GL344454.1(2048-21154)
zebrafish (Danio rerio)	Actinopterygii	slc4a2b¹	solute carrier family 4, anion exchanger, member 2b	67.63(n) 70.98(a)		570716 NM_001114440.1 NP_001107912.1
fruit fly (Drosophila melanogaster)	Insecta	CG8177^{1 , 3}	anion exchanger³ CG8177¹	44(a)³ 53.92(n)¹ 46.95(a)¹		39147¹ NM_206312.1¹ NP_996034.1¹
worm (Caenorhabditis elegans)	Secernentea	R03E9.3³	anion exchange protein	26(a)		X(6782894-6795730) --
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G06450¹	putative boron transporter 3	42.88(n) 30.22(a)		819821 NM_001125118.1 NP_001118590.1
rice (Oryza sativa)	Liliopsida	BOR1⁶ BOR3⁶ (see all 3)	boron transporter protein, putative, expressed (see all 3)	19(a) 19(a) (see all 3)	possible ortholog possible ortholog (see all 3)	12(23215284-23219805) 1(3877069-3899085)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC4A2 gene

SLC4A4² SLC4A10² SLC4A7² SLC4A1² SLC4A11² SLC4A5² SLC4A8² SLC4A9²

SLC4A3²

13 SIMAP similar genes for SLC4A2 using alignment to 13 protein entries: B3A2_HUMAN (see all proteins):

EPB3 AE1 DKFZp781H1314 AE SLC4A1 SLC4A3

NBC SLC4A4 SLC4A10 SLC4A8 SLC4A7 SLC4A5

SLC4A9

SLC4A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11766855^1,2	C,F,A,H,	--	144585291(+)	`GTCTAC/TTTGGG`	1	--	int¹		29		NA EA NS WA	2906
rs201714665^1,2	C	--	150100898(+)	`CAAGAA/CCAGCC`	1	--	ds500¹		0	--	--	--	--
rs56121358^1,2	C	--	150100945(+)	`AAGAGC/GGGGTT`	1	--	ds500¹		0	--	--	--	--
rs55729233^1,2	C	--	150101346(+)	`GAAAAG/CAGGGG`	1	--	ds500¹		1		NA	4552
rs35546983^1,2	C,	--	150101648(+)	`ACAGGA/CACAGC`	1	--	ut3¹		5		NS	188
rs17856814^1,2	C	--	150102329(+)	`CGGGAT/CCCAGT`	1	--	int¹ ese³		2		NA	4
rs35486071^1,2	C,F,	--	150102465(+)	`GGGTCA/GCTCTC`	1	--	int¹		7		NS NA	190
rs34863137^1,2	F	--	150102576(+)	`AAGAAG/TAGAGA`	1	--	int¹		5		NS	182
rs75761711^1,2	F,	--	150103166(+)	`GCCTTT/CTGTCT`	1	--	us2k¹		1		WA	118
rs34651682^1,2	C,	--	150103184(+)	`GGGGGC/TGGGGC`	1	--	us2k¹		5		NS	182

HapMap Linkage Disequilibrium report for SLC4A2 (150754297 - 150773614 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SLC4A2
2 CNVs: 52152 4574

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC4A2 for disorders           About GeneDecksing

OMIM gene information: 109280    OMIM disorders: --

20/21 diseases for SLC4A2 (see all 21):    About MalaCards

renal tubular acidosis intrahepatic cholestasis intrahepatic cholestasis of pregnancy hereditary elliptocytosis

elliptocytosis primary biliary cirrhosis cholestasis polycystic kidney disease

kidney disease liver disease colon adenocarcinoma pulmonary disease

renal carcinoma hepatocellular carcinoma cervical cancer choroiditis

cervicitis gastric cancer adenocarcinoma carcinoma

4 diseases from the University of Copenhagen DISEASES database for SLC4A2:

Primary biliary cirrhosis Osteopetrosis Renal tubular acidosis Hereditary elliptocytosis

4 Novoseek disease relationships for SLC4A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
biliary cirrhosis primary	63.5	4	19157624 (1), 8985258 (1), 18471521 (1)
cholestasis	39.1	1	19882051 (1)
liver diseases	21.4	2	18930330 (1), 8335211 (1)
epilepsy	0	1	17008177 (1)

Human Genome Epidemiology (HuGE) Navigator: SLC4A2 (13 documents)

Export disorders for SLC4A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC4A2 gene, integrated from 9 sources (see all 125):
(articles sorted by number of sources associating them with SLC4A2)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Molecular and cellular biology of the erythrocyte anion exchanger (AE1). (PubMed id 8434259)^{1, 3} Tanner M.J. (1993)
Complete nucleotide sequence of band 3 related anion transport protein AE2 from human kidney. (PubMed id 1562608)^{1, 2} Gehrig H.... Appelhans H. (1992)
Cloning and structural characterization of a human non-erythroid band 3-like protein. (PubMed id 3015590)^{1, 2} Demuth D.R.... Curtis P.J. (1986)
Oxidative stress activates anion exchange protein 2 and AP-1 in airway epithelial cells. (PubMed id 12225956)^{1, 9} Turi J.L....Ghio A.J. (2002)
Anion exchanger 2 (AE2) binds to erythrocyte ankyrin and is colocalized with ankyrin along the basolateral plasma membrane of human gastric parietal cells. (PubMed id 9587054)^{1, 9} Jons T. and Drenckhahn D. (1998)
Involvement of anion exchanger-2 in apoptosis of endo thelial cells induced by high glucose through an mPTP-ROS-Caspase-3 dependent p athway. (PubMed id 20180022)^{1, 9} Huang Q.R....He M. (2010)
Expression of anion exchanger 2 in human gastric cancer. (PubMed id 18438347)^{1, 9} Yang Y....Fu G.H. (2008)
Molecular cloning and characterization of the human AE2 anion exchanger (SLC4A2) gene. (PubMed id 9027488)^{1, 9} Medina J.F.... Prieto J. (1997)
Interactions of transmembrane carbonic anhydrase, CAIX, with bicarbonate transporters. (PubMed id 17652430)^{1, 9} Morgan P.E....Casey J.R. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6522	HGNC: 11028	AceView: SLC4A2	Ensembl:ENSG00000164889	euGenes: HUgn6522
ECgene: SLC4A2	Kegg: 6522	H-InvDB: SLC4A2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC4A2	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/slc4a2/

Intellectual Property for SLC4A2 gene
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Patent Information for SLC4A2 gene:
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GeneCards and IP:
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Cell Line associated with SLC4A2: PureStem ES-210, Ecto-ntu Progenitor

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