ENSG00000152939


Homo sapiens

Features
Gene ID: ENSG00000152939
  
Biological name :MARVELD2
  
Synonyms : MARVELD2 / MARVEL domain containing 2 / Q8N4S9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q13.2
Gene start: 69415065
Gene end: 69444330
  
Corresponding Affymetrix probe sets: 235141_at (Human Genome U133 Plus 2.0 Array)   235955_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421902
Ensembl peptide - ENSP00000496750
Ensembl peptide - ENSP00000494616
Ensembl peptide - ENSP00000493858
Ensembl peptide - ENSP00000423490
Ensembl peptide - ENSP00000323264
Ensembl peptide - ENSP00000396244
Ensembl peptide - ENSP00000398922
Ensembl peptide - ENSP00000414776
NCBI entrez gene - 153562     See in Manteia.
OMIM - 610572
RefSeq - XM_005248445
RefSeq - XM_005248447
RefSeq - XM_005248446
RefSeq - NM_001038603
RefSeq - NM_001244734
RefSeq Peptide - NP_001033692
RefSeq Peptide - NP_001231663
swissprot - Q8N4S9
swissprot - D6RAH8
swissprot - A1BQX2
swissprot - D6RA09
Ensembl - ENSG00000152939
  
Related genetic diseases (OMIM): 610153 - Deafness, autosomal recessive 49, 610153
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
 marveld2aENSDARG00000025076Danio rerio
 marveld2bENSDARG00000061651Danio rerio
 MARVELD2ENSGALG00000027140Gallus gallus
 Q3UZP0ENSMUSG00000021636Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OCEL1 / Q9H607 / occludin/ELL domain containing 1ENSG0000009933016
ELL / P55199 / elongation factor for RNA polymerase IIENSG0000010565615
ELL2 / O00472 / elongation factor for RNA polymerase II 2ENSG0000011898515
ELL3 / Q9HB65 / elongation factor for RNA polymerase II 3ENSG0000012888610


Protein motifs (from Interpro)
Interpro ID Name
 IPR008253  Marvel domain
 IPR010844  Occludin homology domain
 IPR031176  ELL/occludin family
 IPR031177  MARVEL domain-containing protein 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0045216 cell-cell junction organization IEA
 biological_processGO:0061028 establishment of endothelial barrier IMP
 biological_processGO:0070830 bicellular tight junction assembly IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0030054 cell junction IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0033010 paranodal junction IDA
 cellular_componentGO:0043220 Schmidt-Lanterman incisure IDA
 cellular_componentGO:0061689 tricellular tight junction IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0000399 Deafness, sensorineural, prelingual, profound 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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