ENSG00000140090


Homo sapiens

Features
Gene ID: ENSG00000140090
  
Biological name :SLC24A4
  
Synonyms : Q8NFF2 / SLC24A4 / solute carrier family 24 member 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.12
Gene start: 92322581
Gene end: 92501483
  
Corresponding Affymetrix probe sets: 1568870_at (Human Genome U133 Plus 2.0 Array)   1568922_at (Human Genome U133 Plus 2.0 Array)   243969_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431840
Ensembl peptide - ENSP00000433302
Ensembl peptide - ENSP00000452099
Ensembl peptide - ENSP00000376948
Ensembl peptide - ENSP00000432464
NCBI entrez gene - 123041     See in Manteia.
OMIM - 609840
RefSeq - XM_011536440
RefSeq - NM_153647
RefSeq - NM_153648
RefSeq - XM_011536436
RefSeq - XM_011536437
RefSeq - XM_011536438
RefSeq - XM_011536439
RefSeq - NM_153646
RefSeq Peptide - NP_705934
RefSeq Peptide - NP_705932
RefSeq Peptide - NP_705933
swissprot - H0YCX3
swissprot - Q8NFF2
swissprot - G3V505
Ensembl - ENSG00000140090
  
Related genetic diseases (OMIM): 210750 - [Skin/hair/eye pigmentation 6, blond/brown hair], 210750
  615887 - Amelogenesis imperfecta, type IIA5, 615887
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
 slc24a4aENSDARG00000015425Danio rerio
 slc24a4bENSDARG00000067509Danio rerio
 SLC24A4ENSGALG00000010793Gallus gallus
 Slc24a4ENSMUSG00000041771Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9HC58 / SLC24A3 / solute carrier family 24 member 3ENSG0000018505260
Q9UI40 / SLC24A2 / solute carrier family 24 member 2ENSG0000015588635
O60721 / SLC24A1 / solute carrier family 24 member 1ENSG0000007462135
Q71RS6 / SLC24A5 / solute carrier family 24 member 5ENSG0000018846731
Q6J4K2 / SLC8B1 / solute carrier family 8 member B1ENSG0000008906019


Protein motifs (from Interpro)
Interpro ID Name
 IPR004481  Sodium/potassium/calcium exchanger
 IPR004837  Sodium/calcium exchanger membrane region
 IPR030232  Sodium/potassium/calcium exchanger 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0007608 sensory perception of smell IBA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0097186 amelogenesis ISS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005262 calcium channel activity IBA
 molecular_functionGO:0005509 calcium ion binding IBA
 molecular_functionGO:0008273 calcium, potassium:sodium antiporter activity IEA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0030955 potassium ion binding IBA
 molecular_functionGO:0031402 sodium ion binding IBA


Pathways (from Reactome)
Pathway description
Sodium/Calcium exchangers
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)


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:0000670 Carious teeth 
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 HP:0000705 Amelogenesis imperfecta 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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