SLC4A3 (solute carrier family 4 member 3)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6508
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 4 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC4A3
Synonyms (NCBI Gene) Gene synonyms aliases
AE3, CAE3/BAE3, SLC2C, SQT7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SQT7
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez Gene.
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0005452 Function Inorganic anion exchanger activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 7923606
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
106195 11029 ENSG00000114923
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
PF07565 Band_3_cyto 350 → 619 Band 3 cytoplasmic domain Domain
PF00955 HCO3_cotransp 675 → 1161 HCO3- transporter family Family
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Bicarbonate transporters
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Ventricular fibrillation Ventricular Fibrillation rs137854604, rs587782933, rs190140598 29697308
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Short QT Syndrome short QT syndrome 7, short QT syndrome GenCC
Show/Hide Text Mining Associations (46)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 15859643
Adenocarcinoma Mucinous Associate 21699710
Adenoma Associate 17195820
Adrenal Gland Diseases Associate 23510370
Carcinoma Associate 29609569
Carcinoma Neuroendocrine Stimulate 34401980
Carcinoma Papillary Stimulate 20191116
Carcinoma Renal Cell Associate 24427344, 34228212, 36510186
Carcinoma Squamous Cell Associate 22749497
Chordoma Associate 18820665