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)
Paralog prediction (from Ensembl)
| ERCC6 / P0DP91 / Q03468 / Q8N328 / ERCC excision repair 6, chromatin remodeling factor | ENSG00000225830 | 29 | | ERCC6L / Q2NKX8 / ERCC excision repair 6 like, spindle assembly checkpoint helicase | ENSG00000186871 | 26 |
Protein motifs (from Interpro)
| 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)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| 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:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| | HP:0001873 | Thrombocytopenia | |
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| | HP:0001882 | Leukopenia | |
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| | HP:0001903 | Anemia | |
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| | HP:0005528 | Bone marrow hypoplasia | |
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Interacting proteins (from Reactome)
No match
0 s.
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