ENSG00000136104


Homo sapiens

Features
Gene ID: ENSG00000136104
  
Biological name :RNASEH2B
  
Synonyms : Q5TBB1 / ribonuclease H2 subunit B / RNASEH2B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: 1
Band: q14.3
Gene start: 50909678
Gene end: 51024120
  
Corresponding Affymetrix probe sets: 215040_at (Human Genome U133 Plus 2.0 Array)   219056_at (Human Genome U133 Plus 2.0 Array)   229210_at (Human Genome U133 Plus 2.0 Array)   233156_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000493499
Ensembl peptide - ENSP00000495456
Ensembl peptide - ENSP00000495482
Ensembl peptide - ENSP00000495487
Ensembl peptide - ENSP00000495519
Ensembl peptide - ENSP00000495587
Ensembl peptide - ENSP00000495650
Ensembl peptide - ENSP00000495657
Ensembl peptide - ENSP00000495755
Ensembl peptide - ENSP00000495773
Ensembl peptide - ENSP00000495793
Ensembl peptide - ENSP00000495920
Ensembl peptide - ENSP00000496130
Ensembl peptide - ENSP00000496224
Ensembl peptide - ENSP00000496227
Ensembl peptide - ENSP00000496293
Ensembl peptide - ENSP00000496481
Ensembl peptide - ENSP00000496571
Ensembl peptide - ENSP00000337623
Ensembl peptide - ENSP00000389877
Ensembl peptide - ENSP00000481236
Ensembl peptide - ENSP00000482701
Ensembl peptide - ENSP00000489723
Ensembl peptide - ENSP00000490077
Ensembl peptide - ENSP00000493655
Ensembl peptide - ENSP00000493777
Ensembl peptide - ENSP00000493828
Ensembl peptide - ENSP00000494019
Ensembl peptide - ENSP00000494091
Ensembl peptide - ENSP00000494221
Ensembl peptide - ENSP00000495031
Ensembl peptide - ENSP00000495278
Ensembl peptide - ENSP00000495302
Ensembl peptide - ENSP00000495429
NCBI entrez gene - 79621     See in Manteia.
OMIM - 610326
RefSeq - XM_017020747
RefSeq - NM_001142279
RefSeq - NM_024570
RefSeq - XM_006719867
RefSeq - XM_011535229
RefSeq - XM_011535230
RefSeq - XM_011535231
RefSeq - XM_011535233
RefSeq Peptide - NP_078846
RefSeq Peptide - NP_001135751
swissprot - A0A087WXR7
swissprot - A0A1B0GTJ2
swissprot - Q5TBB1
swissprot - A0A087WZJ6
swissprot - A0A1B0GUE7
Ensembl - ENSG00000136104
  
Related genetic diseases (OMIM): 610181 - Aicardi-Goutieres syndrome 2, 610181
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
 rnaseh2bENSDARG00000005128Danio rerio
 RNASEH2BENSGALG00000017015Gallus gallus
 Q80ZV0ENSMUSG00000021932Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR019024  Ribonuclease H2, subunit B


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0006401 RNA catabolic process IDA
 biological_processGO:0009259 ribonucleotide metabolic process IEA
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0048146 positive regulation of fibroblast proliferation IEA
 biological_processGO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA
 biological_processGO:2000001 regulation of DNA damage checkpoint IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0032299 ribonuclease H2 complex IDA
 molecular_functionGO:0004523 RNA-DNA hybrid ribonuclease activity IEA


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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000625 Eyelid, cleft "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001298 Encephalopathy 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001357 Plagiocephaly "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002132 Porencephaly 
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 HP:0002135 Basal ganglia calcification "Calcification affecting one or more structures of the basal ganglia." [HPO:curators]
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 HP:0002139 Arrhinencephaly 
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 HP:0002187 Mental retardation, profound "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators]
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 HP:0003828 Variable expressivity 
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 HP:0004374 Hemiplegia/hemiparesis "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
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 HP:0009704 Chronic CSF lymphocytosis "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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