ERCC6L2 (ERCC excision repair 6 like 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
375748
Gene name Gene Name - the full gene name approved by the HGNC.
ERCC excision repair 6 like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERCC6L2
Synonyms (NCBI Gene) Gene synonyms aliases
BMFS2, C9orf102, HEBO, RAD26L, SR278
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs147948835 C>T Pathogenic Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs886037662 AACA>- Pathogenic Coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(121)
miRTarBase ID miRNA Experiments Reference
MIRT017550 hsa-miR-335-5p Microarray 18185580
MIRT671415 hsa-miR-3714 HITS-CLIP 23824327
MIRT671414 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT671413 hsa-miR-6893-5p HITS-CLIP 23824327
MIRT671412 hsa-miR-940 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000775 Component Chromosome, centromeric region IDA 37014751
GO:0000775 Component Chromosome, centromeric region IEA
GO:0003677 Function DNA binding IEA
GO:0004386 Function Helicase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615667 26922 ENSG00000182150
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5T890
Protein name DNA excision repair protein ERCC-6-like 2 (EC 3.6.4.-) (DNA repair and recombination protein RAD26-like) (Excision repair cross-complementation group 6-like 2)
Protein function Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays a role in DNA repair by restricting DNA end r
PDB 6HQ9 , 8COB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00176 SNF2_N 132 → 473 SNF2 family N-terminal domain Family
PF00271 Helicase_C 519 → 632 Helicase conserved C-terminal domain Family
PF14773 VIGSSK 1123 → 1153 Helicase-associated putative binding domain, C-terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in bone marrow (at protein level). {ECO:0000269|PubMed:24507776}.
Sequence 
MQPGSAPPPGRMDPSAPQPRAETSGKDIWHPGERCLAPSPDNGKLCEASIKSITVDENGK
SFAVVLYADFQERKIPLKQLQEVKFVKDCPRNLIFDDEDLEKPYFPNRKFPSSSVAFKLS
DNGDSIPYTINRYLRDYQREGTRFLYGHYIHGGGCILGDDMGLGKTVQVISFLAAVLHKK
GTREDIENNMPEFLLRSMKKEPLSSTAKKMFLIVAPLSVLYNWKDELDTWGYFRVTVLHG
NRKDNELIRVKQRKCEIALTTYETLRLCLDELNSLEWSAVIVDEAHRIKNPKARVTEVMK
ALKCNVRIGLTGTILQNNMKELWCVMDWAVPGLLGSGTYFKKQFSDPVEHGQRHTATKRE
LATGRKAMQRLAKKMSGWFLRRTKTLIKDQLPKKEDRMVYCSLTDFQKAVYQTVLETEDV
TLILQSSEPCTCRSGQKRRNCCYKTNSHGETVKTLYLSYLTVLQKVANHVALLQAASTSK
QQETLIKRICDQVFSRFPDFVQKSKDAAFETLSDPKYSGKMKVLQQLLNHCRKNRDKVLL
FSFSTKLLDVLQQYCMASGLDYRRLDGSTKSEERLKIVKEFNSTQDVNICLVSTMAGGLG
LNFVGANVVVLFDPTWNPANDLQAIDRAYRIGQCRDVKVLRLISLGTVEEIMYLRQIYKQ
QLHCVVVGSENAKRYFEAVQGSKEHQGELFGIHNLFKFRSQGSCLTKDILEREGQVEAGI
MTATTWLKEGPPAHKLEMPRQPDCQECRGTEQAAEPLAKEACDLCSDFSDEEPVGATGIK
TAKNKAPDSSKASSSPGQLTLLQCGFSKLLETKCKAVEDSDGNTASDDESSDEQPTCLST
EAKDAGCEKNQDSLGTSKHQKLDNILNPKEKHIFYKSEKILEQNISSKSDEKKIKNTDKH
CILQNVTESEDSDVICPTQYTTERFPDNSIRFKPPLEGSEDSETEHTVKTRNNDNSRNTD
DKRNGIISKKLSPENTTLKSILKRKGTSDISDESDDIEISSKSRVRKRASSLRFKRIKET
KKELHNSPKTMNKTNQVYAANEDHNSQFIDDYSSSDESLSVSHFSFSKQSHRPRTIRDRT
SFSSKLPSHNKKNSTFIPRKPMKCSNEKVVNQEQSYESMDKFLDGVQEVAYIHSNQNVIG
SSKAENHMSRWAAHDVFELKQFSQLPANIAVCSSKTYKEKVDADTLPHTKKGQQPSEGSI
SLPLYISNPVNQKKKKVYHTNQTTFIIGETPKGIRRKQFEEMASYFNSSSVNEFAKHITN
ATSEERQKMLRDFYASQYPEVKEFFVDSVSQFNNSSFEKGEQRTRKKSDKRESLIKPRLS
DSETLSFKDSTNKISQVCSLKTYKRKSVKFQNHISYREEVFFNDAETKKSPVSSTQEIDS
GKNSQASEDTVTSRSLNSESETRERRLENTMKDQQDLTRTGISRKEPLLKLENKKIENPV
LENTSVISLLGDTSILDDLFKSHGNSPTQLPKKVLSGPMEKAKQRPKDFWDILNEQNDES
LSKLTDLAVIETLCEKAPLAAPFKRREEPATSLWKSNEKFLWKKFSPSDTDENATNTQST
T
Sequence length 1561
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pancytopenia-developmental delay syndrome pancytopenia-developmental delay syndrome rs147948835, rs886037662, rs778926161, rs1588013817 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 36480781
Bone Marrow Failure Disorders Associate 24507776, 27185855, 29987015, 36156210, 36952636
Congenital Bone Marrow Failure Syndromes Associate 29146883, 29987015
Diabetes Mellitus Associate 36480781
Drug Related Side Effects and Adverse Reactions Associate 24507776
Fanconi Anemia Associate 27185855
Hematologic Neoplasms Associate 36952636
Immunologic Deficiency Syndromes Associate 29987015
Leukemia Myeloid Acute Associate 36952636
Microcephaly Associate 27185855