SLC4A3 (solute carrier family 4 member 3)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6508
• Gene name: Solute carrier family 4 member 3
• Gene symbol: SLC4A3
• Synonyms (NCBI Gene): AE3, CAE3/BAE3, SLC2C, SQT7
• Chromosome: 2
• Chromosome location: 2q35
• Summary: The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]

Gene ontology (GO) Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005452	Function	Solute:inorganic anion antiporter activity	TAS	7923606
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	29167417
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7923606
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	IEA
GO:0009897	Component	External side of plasma membrane	IMP	29167417
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IMP	29167417
GO:0015297	Function	Antiporter activity	IEA
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	IMP	29167417
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7923606
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0045851	Process	PH reduction	IMP	29167417
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0051453	Process	Regulation of intracellular pH	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0061337	Process	Cardiac conduction	IMP	29167417
GO:0086001	Process	Cardiac muscle cell action potential	ISS	29167417
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098901	Process	Regulation of cardiac muscle cell action potential	IMP	29167417
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	7923606
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 106195
• HGNC: 11029
• e!Ensembl: ENSG00000114923

Protein

• UniProt ID: P48751
• Protein name: Anion exchange protein 3 (AE 3) (Anion exchanger 3) (CAE3/BAE3) (Cardiac/brain band 3-like protein) (Neuronal band 3-like protein) (Solute carrier family 4 member 3)
• Protein function: Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:29167417, PubMed:7923606). May be involved in the regulation of intracellular pH, and the modulation
• PDB: 8Y85 , 8Y86 , 8Y8K , 8ZLE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00955	HCO3_cotransp	675 → 1161	HCO3- transporter family	Family
  PF07565	Band_3_cyto	350 → 619	Band 3 cytoplasmic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform BAE3]: Expressed in the heart. {ECO:0000269|PubMed:7923606}.; TISSUE SPECIFICITY: [Isoform CAE3]: Expressed in the heart. {ECO:0000269|PubMed:7923606}.
• Sequence:

  MANGVIPPPGGASPLPQVRVPLEEPPLSPDVEEEDDDLGKTLAVSRFGDLISKPPAWDPE
  KPSRSYSERDFEFHRHTSHHTHHPLSARLPPPHKLRRLPPTSARHTRRKRKKEKTSAPPS
  EGTPPIQEEGGAGVDEEEEEEEEEEGESEAEPVEPPHSGTPQKAKFSIGSDEDDSPGLPG
  RAAVTKPLPSVGPHTDKSPQHSSSSPSPRARASRLAGEKSRPWSPSASYDLRERLCPGSA
  LGNPGGPEQQVPTDEAEAQMLGSADLDDMKSHRLEDNPGVRRHLVKKPSRTQGGRGSPSG
  LAPILRRKKKKKKLDRRPHEVFVELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGK
  PHVASLSFRSLLELRRTIAHGAALLDLEQTTLPGIAHLVVETMIVSDQIRPEDRASVLRT
  LLLKHSHPNDDKDSGFFPRNPSSSSMNSVLGNHHPTPSHGPDGAVPTMADDLGEPAPLWP
  HDPDAKEKPLHMPGGDGHRGKSLKLLEKIPEDAEATVVLVGCVPFLEQPAAAFVRLNEAV
  LLESVLEVPVPVRFLFVMLGPSHTSTDYHELGRSIATLMSDKLFHEAAYQADDRQDLLSA
  ISEFLDGSIVIPPSEVEGRDLLRSVAAFQRELLRKRREREQTKVEMTTRGGYTAPGKELS
  LELGGSEATPEDDPLLRTGSVFGGLVRDVRRRYPHYPSDLRDALHSQCVAAVLFIYFAAL
  SPAITFGGLLGEKTEGLMGVSELIVSTAVLGVLFSLLGAQPLLVVGFSGPLLVFEEAFFK
  FCRAQDLEYLTGRVWVGLWLVVFVLALVAAEGSFLVRYISPFTQEIFAFLISLIFIYETF
  YKLYKVFTEHPLLPFYPPEGALEGSLDAGLEPNGSALPPTEGPPSPRNQPNTALLSLILM
  LGTFFIAFFLRKFRNSRFLGGKARRIIGDFGIPISILVMVLVDYSITDTYTQKLTVPTGL
  SVTSPDKRSWFIPPLGSARPFPPWMMVAAAVPALLVLILIFMETQITALIVSQKARRLLK
  GSGFHLDLLLIGSLGGLCGLFGLPWLTAATVRSVTHVNALTVMRTAIAPGDKPQIQEVRE
  QRVTGVLIASLVGLSIVMGAVLRRIPLAVLFGIFLYMGVTSLSGIQLSQRLLLILMPAKH
  HPEQPYVTKVKTWRMHLFTCIQLGCIALLWVVKSTAASLAFPFLLLLTVPLRHCLLPRLF
  QDRELQALDSEDAEPNFDEDGQDEYNELHMPV

• Sequence length: 1232

Pathways

Reactome Pathway:

Bicarbonate transporters

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Short QT syndrome 7	Pathogenic	rs2469281007	RCV003152490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (7)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTOSOMAL DOMINANT DISTAL RENAL TUBULAR ACIDOSIS	—	Disgenet	15211439, 16227998, 32632911, 33881640, 7949112, 8640229	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SHORT QT SYNDROME	—	Orphanet	29167417	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	16844662	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME	—	ClinGen, ClinVar, Disgenet ClinGen, ClinVar, Disgenet	29167417	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC4A3-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (33)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma	Carcinoma	Pubtator	29609569	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24427344, 34228212, 36510186	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22749497	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	18820665	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28779178		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	21779668	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16239253, 19605733		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16844662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	28779178		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25044880	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	12399075, 19605733		★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	22808299	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	20651304	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	25044880	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33493384	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10732805		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	20191116	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	9771451	Stimulate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	10581498		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	9490305	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	10581498		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	30290760	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	27211793	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27211793	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	24427344	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	15309019	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	21959309	Associate	★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	29167417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 1	Short qt syndrome	Pubtator	34557911	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	30793712	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22749497		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	39201770	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	GENOMICS_ENGLAND_DG	29697308		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCNJ2 3 shared diseasesCardiac arrhythmia, Congenital short qt syndrome, Short qt syndrome 6 shared evidence sourcesDisgenet (Cardiac arrhythmia), Orphanet (Congenital short qt syndrome), ClinGen (Short qt syndrome), Disgenet (Short qt syndrome), ClinVar (Short qt syndrome), HPO (Short qt syndrome) Related via 3 shared diseases including Cardiac arrhythmia, Congenital short qt syndrome — evidence mostly Disgenet. KCNH2 3 shared diseasesCardiac arrhythmia, Congenital short qt syndrome, Short qt syndrome 6 shared evidence sourcesDisgenet (Cardiac arrhythmia), Orphanet (Congenital short qt syndrome), ClinGen (Short qt syndrome), Disgenet (Short qt syndrome), ClinVar (Short qt syndrome), HPO (Short qt syndrome) Related via 3 shared diseases including Cardiac arrhythmia, Congenital short qt syndrome — evidence mostly Disgenet. KCNA5 2 shared diseasesCardiac arrhythmia, Heart disease 2 shared evidence sourcesDisgenet (Cardiac arrhythmia), Disgenet (Heart disease) Related via 2 shared diseases including Cardiac arrhythmia, Heart disease — evidence mostly Disgenet. CACNA2D1 2 shared diseasesCongenital short qt syndrome, Short qt syndrome 3 shared evidence sourcesOrphanet (Congenital short qt syndrome), ClinGen (Short qt syndrome), Disgenet (Short qt syndrome) Related via 2 shared diseases including Congenital short qt syndrome, Short qt syndrome — evidence mostly Orphanet. KCNE2 2 shared diseasesCardiac arrhythmia, Heart disease 1 shared evidence sourceDisgenet (Cardiac arrhythmia) Related via 2 shared diseases including Cardiac arrhythmia, Heart disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNJ2	3	["Cardiac arrhythmia","Congenital short qt syndrome","Short qt syndrome"]	0	[]	6	["Disgenet (Cardiac arrhythmia)","Orphanet (Congenital short qt syndrome)","ClinGen (Short qt syndrome)","Disgenet (Short qt syndrome)","ClinVar (Short qt syndrome)","HPO (Short qt syndrome)"]
KCNH2	3	["Cardiac arrhythmia","Congenital short qt syndrome","Short qt syndrome"]	0	[]	6	["Disgenet (Cardiac arrhythmia)","Orphanet (Congenital short qt syndrome)","ClinGen (Short qt syndrome)","Disgenet (Short qt syndrome)","ClinVar (Short qt syndrome)","HPO (Short qt syndrome)"]
KCNA5	2	["Cardiac arrhythmia","Heart disease"]	0	[]	2	["Disgenet (Cardiac arrhythmia)","Disgenet (Heart disease)"]
CACNA2D1	2	["Congenital short qt syndrome","Short qt syndrome"]	0	[]	3	["Orphanet (Congenital short qt syndrome)","ClinGen (Short qt syndrome)","Disgenet (Short qt syndrome)"]
KCNE2	2	["Cardiac arrhythmia","Heart disease"]	0	[]	1	["Disgenet (Cardiac arrhythmia)"]

Diseases Linked via Similar Genes

Atrial fibrillation Linked via 4 of 5 related genesKCNJ2, KCNH2, KCNA5, KCNE2 Long qt syndrome Linked via 4 of 5 related genesKCNJ2, KCNH2, CACNA2D1, KCNE2 Ventricular fibrillation Linked via 4 of 5 related genesKCNJ2, KCNH2, CACNA2D1, KCNE2 Brugada syndrome Linked via 3 of 5 related genesKCNJ2, KCNH2, CACNA2D1 Hereditary atrial fibrillation Linked via 3 of 5 related genesKCNJ2, KCNA5, KCNE2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrial fibrillation	4	["KCNJ2","KCNH2","KCNA5","KCNE2"]
Long qt syndrome	4	["KCNJ2","KCNH2","CACNA2D1","KCNE2"]
Ventricular fibrillation	4	["KCNJ2","KCNH2","CACNA2D1","KCNE2"]
Brugada syndrome	3	["KCNJ2","KCNH2","CACNA2D1"]
Hereditary atrial fibrillation	3	["KCNJ2","KCNA5","KCNE2"]