ENSG00000182150


Homo sapiens

Features
Gene ID: ENSG00000182150
  
Biological name :ERCC6L2
  
Synonyms : ERCC6L2 / ERCC excision repair 6 like 2 / Q5T890
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q22.32
Gene start: 95875701
Gene end: 96014571
  
Corresponding Affymetrix probe sets: 228211_at (Human Genome U133 Plus 2.0 Array)   232013_at (Human Genome U133 Plus 2.0 Array)   232801_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473877
Ensembl peptide - ENSP00000395345
Ensembl peptide - ENSP00000409751
Ensembl peptide - ENSP00000288985
Ensembl peptide - ENSP00000320939
Ensembl peptide - ENSP00000384215
NCBI entrez gene - 375748     See in Manteia.
OMIM - 615667
RefSeq - XM_017014707
RefSeq - NM_001010895
RefSeq - NM_020207
RefSeq - XM_011518641
RefSeq - XM_011518644
RefSeq - XM_011518645
RefSeq - XM_011518646
RefSeq - XM_011518647
RefSeq - XM_011518650
RefSeq Peptide - NP_001010895
RefSeq Peptide - NP_064592
swissprot - X6RE28
swissprot - F2Z2R4
swissprot - Q5T890
swissprot - H0Y3T7
swissprot - S4R327
swissprot - H7BXQ9
Ensembl - ENSG00000182150
  
Related genetic diseases (OMIM): 615715 - Bone marrow failure syndrome 2, 615715
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
 ercc6l2ENSDARG00000012403Danio rerio
 Q9JIM3ENSMUSG00000021470Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ERCC6 / P0DP91 / Q03468 / Q8N328 / ERCC excision repair 6, chromatin remodeling factorENSG0000022583029
ERCC6L / Q2NKX8 / ERCC excision repair 6 like, spindle assembly checkpoint helicaseENSG0000018687126


Protein motifs (from Interpro)
Interpro ID Name
 IPR000330  SNF2-related, N-terminal domain
 IPR001650  Helicase, C-terminal
 IPR002464  DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR029256  Helicase-associated putative binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0034614 cellular response to reactive oxygen species IMP
 biological_processGO:0036297 interstrand cross-link repair IMP
 cellular_componentGO:0005634 nucleus IMP
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IMP
 cellular_componentGO:0005739 mitochondrion IMP
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019901 protein kinase 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]
Show

 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]
Show

 HP:0001319 Neonatal hypotonia "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
Show

 HP:0001873 Thrombocytopenia 
Show

 HP:0001882 Leukopenia 
Show

 HP:0001903 Anemia 
Show

 HP:0005528 Bone marrow hypoplasia 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr