ENSG00000080493


Homo sapiens

Features
Gene ID: ENSG00000080493
  
Biological name :SLC4A4
  
Synonyms : Q9Y6R1 / SLC4A4 / solute carrier family 4 member 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q13.3
Gene start: 71186757
Gene end: 71572087
  
Corresponding Affymetrix probe sets: 1554027_a_at (Human Genome U133 Plus 2.0 Array)   203908_at (Human Genome U133 Plus 2.0 Array)   210738_s_at (Human Genome U133 Plus 2.0 Array)   210739_x_at (Human Genome U133 Plus 2.0 Array)   211494_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000307349
Ensembl peptide - ENSP00000344272
Ensembl peptide - ENSP00000492496
Ensembl peptide - ENSP00000491107
Ensembl peptide - ENSP00000422400
Ensembl peptide - ENSP00000393557
Ensembl peptide - ENSP00000264485
NCBI entrez gene - 8671     See in Manteia.
OMIM - 603345
RefSeq - NM_003759
RefSeq - XM_017008793
RefSeq - XM_017008792
RefSeq - XM_011532390
RefSeq - NM_001098484
RefSeq - NM_001134742
RefSeq Peptide - NP_001091954
RefSeq Peptide - NP_001128214
RefSeq Peptide - NP_003750
swissprot - A0A1W2PRU6
swissprot - Q9Y6R1
swissprot - A0A024RD97
swissprot - A5JJ20
swissprot - A0A1W2PNW8
Ensembl - ENSG00000080493
  
Related genetic diseases (OMIM): 604278 - Renal tubular acidosis, proximal, with ocular abnormalities, 604278
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc4a4aENSDARG00000013730Danio rerio
 slc4a4bENSDARG00000044808Danio rerio
 SLC4A4ENSGALG00000031105Gallus gallus
 O88343ENSMUSG00000060961Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9BY07 / SLC4A5 / solute carrier family 4 member 5ENSG0000018868760
Q6U841 / SLC4A10 / solute carrier family 4 member 10ENSG0000014429052
Q9Y6M7 / SLC4A7 / solute carrier family 4 member 7ENSG0000003386752
Q2Y0W8 / SLC4A8 / solute carrier family 4 member 8ENSG0000005043851
Q96Q91 / SLC4A9 / solute carrier family 4 member 9ENSG0000011307346
P04920 / SLC4A2 / solute carrier family 4 member 2ENSG0000016488937
P48751 / SLC4A3 / solute carrier family 4 member 3ENSG0000011492336
P02730 / SLC4A1 / solute carrier family 4 member 1 (Diego blood group)ENSG0000000493931
Q8NBS3 / SLC4A11 / solute carrier family 4 member 11ENSG0000008883620


Protein motifs (from Interpro)
Interpro ID Name
 IPR003020  Bicarbonate transporter, eukaryotic
 IPR003024  Sodium bicarbonate cotransporter
 IPR011531  Bicarbonate transporter, C-terminal
 IPR013769  Band 3 cytoplasmic domain
 IPR016152  Phosphotransferase/anion transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006820 anion transport IEA
 biological_processGO:0015698 inorganic anion transport IEA
 biological_processGO:0015701 bicarbonate transport TAS
 biological_processGO:0051453 regulation of intracellular pH IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0098656 anion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005452 inorganic anion exchanger activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008509 anion transmembrane transporter activity IEA
 molecular_functionGO:0008510 sodium:bicarbonate symporter activity IMP
 molecular_functionGO:0015293 symporter activity IEA


Pathways (from Reactome)
Pathway description
Bicarbonate transporters
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000585 Band keratopathy "An `abnormality of the cornea` (HP:0000481) characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson]
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 HP:0001249 Mental retardation 
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 HP:0001510 Growth retardation 
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 HP:0001995 Hyperchloremic acidosis 
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 HP:0002049 Proximal renal tubular acidosis 
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 HP:0004910 bicarbonate-wasting renal tubular acidosis 
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 HP:0005546 Increased red cell osmotic resistance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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