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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 transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
ERCC6L2 (ERCC Excision Repair 6 Like 2) is a Protein Coding gene. Diseases associated with ERCC6L2 include Bone Marrow Failure Syndrome 2 and Basal Cell Nevus Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IMP | 24507776 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IMP | 24507776 |
GO:0005739 | mitochondrion | IMP | 24507776 |
GO:0005813 | colocalizes_with centrosome | IDA | 20873783 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0034614 | cellular response to reactive oxygen species | IMP | 24507776 |
GO:0036297 | interstrand cross-link repair | IMP | 24507776 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - |
ExUns: | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | - | ||||||||
SP6: | |||||||||
SP7: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ERCC6L2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ERCC6L2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ercc6l2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ercc6l2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | ERCC6L2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ERCC6L2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CZH9ORF102 30 |
|
||
ERCC6L2 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | ERCC6L2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-248d20.2 30 |
|
||
ERCC6L2 31 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | csb-1 31 |
|
ManyToMany | |
F53H4.6 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD26 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1225802415 | Likely Benign: not provided | 95,941,450(+) |
C/T NM_020207.7(ERCC6L2):c.1752-4C>T |
INTRON | |
rs139286981 | Benign/Likely Benign: not provided | 95,876,059(+) |
G/C NM_020207.5(ERCC6L2):c.54G>C (p.Gln18His) |
MISSENSE | |
rs146075543 | Benign: not provided | 95,881,201(+) |
C/G NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs147361064 | Likely Benign: not provided | 95,921,240(+) |
C/T NM_020207.7(ERCC6L2):c.1224C>T (p.Asp408=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs147747872 | Likely Benign: not provided | 95,907,209(+) |
G/A NM_020207.7(ERCC6L2):c.726G>A (p.Arg242=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2676659 | CNV | deletion | 23128226 |
esv3304940 | CNV | mobile element insertion | 20981092 |
esv3355820 | CNV | insertion | 20981092 |
esv3395779 | CNV | insertion | 20981092 |
esv3445465 | CNV | insertion | 20981092 |
esv3573300 | CNV | loss | 25503493 |
nsv1035723 | CNV | loss | 25217958 |
nsv1147999 | OTHER | inversion | 26484159 |
nsv524266 | CNV | loss | 19592680 |
nsv524894 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bone marrow failure syndrome 2 |
|
|
basal cell nevus syndrome |
|
|
leukemia, acute myeloid |
|
|
expressive language disorder |
|
|
microcephaly |
|
|