| Type | Description |
|---|---|
| Definition | ERCC excision repair 6 like 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-01-11 11:32:00 | We report a direct association of a homozygous truncating germ line mutation in ERCC6L2 with a specific high-risk leukemia subtype | 30936069 |
| 2019-12-07 10:45:00 | Study found that rs591486 was associated with an increased risk of amyotrophic lateral sclerosis. Moreover, we found that rs591486 ERCC6L2 influences the age of onset of amyotrophic lateral sclerosis with limb onset. | 30879219 |
| 2019-08-03 10:25:00 | We report 2 cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. | 28815563 |
| 2018-10-20 10:38:00 | ERCC6L2-associated disorder has recently been described. We identified an additional case through whole-exome sequencing. At the age of 9 years, the patient underwent whole exome sequencing and was discovered to have a homozygous stop mutation in ERCC6L2 (NCBI RefSeq NG_034107.1), c.1687C>T (p.Arg563*). | 29633571 |
| 2018-09-22 11:11:00 | The inherited bone marrow failure syndrome caused by biallelic variants in ERCC6L2 can be considered as a primary transcription deficiency rather than a DNA repair defect | 29987015 |
| Type | IDs |
|---|---|
| Synonymous | BMFS2, C9orf102, RAD26L, SR278 |
| Gene |
UniProtKB-ID:
ER6L2_HUMAN
UniprotKB:
Q5T890
UniParc:
UPI000056F15E,
UPI000046FE3C,
UPI000436DF23
EMBL:
AL389953,
AL159167,
BC022957,
CH471174,
AK095025,
BC035183,
AL161454,
BC140702
Ensembl:
ENSG00000182150
KO:
hsa:375748
|
| Nucleutide sequences |
EMBL-CDS:
EAW92636.1,
BAC04478.1,
CAB97543.1,
AAH35183.1,
AAH22957.3,
EAW92640.1,
AAI40703.1
Ensembl_TRS:
ENST00000665077
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000499371
RefSeq:
NP_001362220.1,
NP_064592.3,
NP_001362221.1,
NP_001362222.1,
XP_011516946.1,
NP_001362223.1,
XP_011516950.1,
XP_011516952.1,
XP_011516948.1,
XP_011516943.1,
XP_016870196.1,
NP_001010895.2
|
| Others |
UniRef100:
UniRef100_Q5T890
UniRef90:
UniRef90_Q5T890
UniRef50:
UniRef50_Q5T890
UniGene:
Hs.432364,
Hs.732570
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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