ERCC6L2 (ERCC excision repair 6 like 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 375748
Gene name ERCC excision repair 6 like 2
Gene symbol ERCC6L2
Synonyms (NCBI Gene)
BMFS2C9orf102HEBORAD26LSR278
Chromosome 9
Chromosome location 9q22.32
Summary 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.
2
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.
121
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615667 26922 ENSG00000182150
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
104
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bone marrow hypocellularity Likely pathogenic rs2133080742, rs2133081935 RCV001527703
RCV001527706
ERCC6L2-related disorder Likely pathogenic; Pathogenic rs1480433270, rs2490598994, rs764007539, rs1829555179, rs778926161 RCV003399325
RCV003391642
RCV003418791
RCV004750945
RCV004751561
Hereditary cancer-predisposing syndrome Pathogenic rs147948835 RCV003445510
Pancytopenia-developmental delay syndrome Pathogenic; Likely pathogenic rs147948835, rs886037662, rs2132792543, rs1226402321, rs2490496458, rs2490562078, rs778926161, rs1588013817 RCV000111474
RCV000111475
RCV001781052
RCV003989729
RCV003388733
RCV003988674
RCV001270090
RCV001004901
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely benign rs147984545 RCV005925772
Hereditary cancer Conflicting classifications of pathogenicity rs61748989 RCV005232677
Pancytopenia Uncertain significance rs1453856448 RCV001527704
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease 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