ENSG00000006042


Homo sapiens

Features
Gene ID: ENSG00000006042
  
Biological name :TMEM98
  
Synonyms : Q9Y2Y6 / TMEM98 / transmembrane protein 98
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q11.2
Gene start: 32927910
Gene end: 32945106
  
Corresponding Affymetrix probe sets: 223170_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000406394
Ensembl peptide - ENSP00000464537
Ensembl peptide - ENSP00000463539
Ensembl peptide - ENSP00000463245
Ensembl peptide - ENSP00000261713
Ensembl peptide - ENSP00000378138
Ensembl peptide - ENSP00000398446
NCBI entrez gene - 26022     See in Manteia.
OMIM - 615949
RefSeq - NM_015544
RefSeq - NM_001033504
RefSeq - NM_001301746
RefSeq Peptide - NP_001288675
RefSeq Peptide - NP_001028676
RefSeq Peptide - NP_056359
swissprot - Q9Y2Y6
swissprot - C9J3Y0
swissprot - J3QLG7
swissprot - J3QS57
swissprot - J9JIC8
swissprot - C9J6Q8
Ensembl - ENSG00000006042
  
Related genetic diseases (OMIM): 615972 - Nanophthalmos 4, 615972
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
 tmem98ENSDARG00000059743Danio rerio
 TMEM98ENSGALG00000031762Gallus gallus
 Q91X86ENSMUSG00000035413Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029668  Transmembrane protein 98


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [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:0000505 Impaired vision 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000610 Abnormality of the choroid 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0008499 High-grade hypermetropia 
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 HP:0012426 Optic disc drusen "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [HPO:probinson, pmid:22787500, pmid:23658477]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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