SLC4A2
entrez
6522
canonical
uniprot
P04920
canonical
ensembl
ENSG00000164889
resolver
ensp
ENSP00000376571
resolver
ensp
ENSP00000405600
resolver
ensp
ENSP00000419164
resolver
ensp
ENSP00000419412
resolver
genesymbol
SLC4A2
resolver
genesymbol_syn
AE2
resolver
genesymbol_syn
EPB3L1
resolver
genesymbol_syn
HKB3
resolver
genesymbol_syn
MPB3L
resolver
hgnc
HGNC:11028
resolver
uniprot
B2R6T0
resolver
uniprot
B4DIT0
resolver
uniprot
D3DX05
resolver
uniprot
F8W682
resolver
uniprot
Q45EY5
resolver
uniprot
Q59GF1
resolver
uniprot
Q969L3
resolver
uniprot_entry
B3A2_HUMAN
resolver
uniprot_entry
Q59GF1_HUMAN
resolver
uniprot_sec
B2R6T0
resolver
uniprot_sec
B4DIT0
resolver
uniprot_sec
D3DX05
resolver
uniprot_sec
F8W682
resolver
uniprot_sec
Q45EY5
resolver
uniprot_sec
Q969L3
resolver
amino_acid_sequence
MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEVERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKALLQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCSASNSSEVDGGENMTWAGARPTLGPGNRSLAGQSGQGKPRGQPNTALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQKLSVPSGFSVTAPEKRGWVINPLGEKSPFPVWMMVASLLPAILVFILIFMETQITTLIISKKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGDKPKIQEVKEQRVTGLLVALLVGLSIVIGDLLRQIPLAVLFGIFLYMGVTSLNGIQFYERLHLLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTAASLAFPFILILTVPLRMVVLTRIFTDREMKCLDANEAEPVFDEREGVDEYNEMPMPV
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 9 (OPTB9) [MIM:620366]: A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB9 is characterized by increased bone density and bone fragility, as well as renal failure. {ECO:0000269|PubMed:34668226}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:15184086, PubMed:34668226). Plays an important role in osteoclast differentiation and function (PubMed:34668226). Regulates bone resorption and calpain-dependent actin cytoskeleton organization in osteoclasts via anion exchange-dependent control of pH (By similarity). Essential for intracellular pH regulation in CD8(+) T-cells upon CD3 stimulation, modulating CD8(+) T-cell responses (By similarity). {ECO:0000250|UniProtKB:P13808, ECO:0000269|PubMed:15184086, ECO:0000269|PubMed:34668226}.
uniprot
proteins
mass_dalton
137009
uniprot
proteins
protein_family
Anion exchanger (TC 2.A.31) family
uniprot
proteins
pubmed
10623603
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15184086
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1562608
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3015590
uniprot
proteins
pubmed
34668226
uniprot
proteins
sequence_length
1241
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform A]: Apical cell membrane {ECO:0000269|PubMed:15184086}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:15184086}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform B1]: Apical cell membrane {ECO:0000269|PubMed:15184086}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:15184086}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform B2]: Apical cell membrane {ECO:0000269|PubMed:15184086}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:15184086}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 708..731; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 737..774; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 784..816; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 826..847; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 901..918; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 934..954; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 988..1010; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1036..1059; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1091..1136; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1163..1199; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins