ENSG00000102316


Homo sapiens

Features
Gene ID: ENSG00000102316
  
Biological name :MAGED2
  
Synonyms : MAGED2 / MAGE family member D2 / Q9UNF1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p11.21
Gene start: 54807599
Gene end: 54816012
  
Corresponding Affymetrix probe sets: 208682_s_at (Human Genome U133 Plus 2.0 Array)   213627_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364209
Ensembl peptide - ENSP00000486563
Ensembl peptide - ENSP00000379526
Ensembl peptide - ENSP00000218439
Ensembl peptide - ENSP00000336962
Ensembl peptide - ENSP00000364193
Ensembl peptide - ENSP00000364198
Ensembl peptide - ENSP00000364200
NCBI entrez gene - 10916     See in Manteia.
OMIM - 300470
RefSeq - NM_014599
RefSeq - NM_177433
RefSeq - NM_201222
RefSeq Peptide - NP_803182
RefSeq Peptide - NP_055414
RefSeq Peptide - NP_957516
swissprot - Q9UNF1
swissprot - Q5H907
swissprot - Q5H909
swissprot - A0A024R9Y7
Ensembl - ENSG00000102316
  
Related genetic diseases (OMIM): 300971 - Bartter syndrome, type 5, antenatal, transient, 300971
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
 ndnl2ENSDARG00000058212Danio rerio
 Maged2ENSMUSG00000025268Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TRO / Q12816 / trophininENSG0000006744549
MAGED1 / Q9Y5V3 / MAGE family member D1ENSG0000017922240
Q96JG8 / MAGED4B / MAGE family member D4BENSG0000018724333
MAGED4 / Q96JG8 / MAGE family member D4ENSG0000015454533
MAGEL2 / Q9UJ55 / MAGE family member L2ENSG0000025458527
MAGEE1 / Q9HCI5 / MAGE family member E1ENSG0000019893425
MAGEF1 / Q9HAY2 / MAGE family member F1ENSG0000017738321
NDN / Q99608 / necdin, MAGE family memberENSG0000018263620
MAGEB4 / O15481 / MAGE family member B4ENSG0000012028920
MAGEB1 / P43366 / MAGE family member B1ENSG0000021410719
Q96LZ2 / MAGEB10 / MAGE family member B10ENSG0000017768919
P43363 / MAGEA10 / MAGE family member A10ENSG0000012426018
A8MXT2 / MAGEB17 / MAGE family member B17ENSG0000018279818
MAGEB2 / O15479 / MAGE family member B2ENSG0000009939918
A2A368 / MAGEB16 / MAGE family member B16ENSG0000018902318
MAGEB3 / O15480 / MAGE family member B3ENSG0000019879818
NSMCE3 / Q96MG7 / NSE3 homolog, SMC5-SMC6 complex componentENSG0000018511518
Q96M61 / MAGEB18 / MAGE family member B18ENSG0000017677418
MAGEC1 / O60732 / MAGE family member C1ENSG0000015549517
MAGEE2 / Q8TD90 / MAGE family member E2ENSG0000018667517


Protein motifs (from Interpro)
Interpro ID Name
 IPR002190  MAGE homology domain
 IPR028810  Melanoma-associated antigen D2
 IPR037445  Melanoma-associated antigen


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007565 female pregnancy IMP
 biological_processGO:0070294 renal sodium ion absorption IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000103 Polyuria 
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 HP:0000848 Increased plasma renin 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001561 Polyhydramnios 
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 HP:0001563 Fetal polyuria 
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 HP:0001622 Premature birth 
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 HP:0002150 Hypercalciuria 
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 HP:0002900 Hypokalemia 
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 HP:0002902 Hyponatremia 
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 HP:0003113 Hypochloremia 
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 HP:0012408 Medullary nephrocalcinosis "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [ORDCID:0000-0001-5208-3432]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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