| Type | Description |
|---|---|
| Definition | mono-ADP ribosylhydrolase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-05 12:59:00 | Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome. | 32427867 |
| 2019-10-26 11:05:00 | Study identifies MACROD2 deletion as a cause of chromosome instability (CIN) in human colorectal cancer. MACROD2 loss causes repression of activity, impairing DNA repair. MACROD2 haploinsufficiency promotes CIN and intestinal tumor growth. These results reveal MACROD2 as a major caretaker tumor suppressor gene in intestinal neoplasm. | 29880585 |
| 2019-08-10 11:05:00 | A deletion of chromosome 20p12.1 involving the macrodomain containing 2/mono-ADP ribosylhydrolase 2 gene (MACROD2) was found in several members of the family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly. This deletion may affect correct embryonic development. Associated epigenetic modifications at the MACROD2 locus, can influence the phenotype severity. | 31055587 |
| 2017-06-24 11:33:00 | In patients with Graves' disease, a common genetic variant in MACROD2 may increase susceptibility for thyroid-associated orbitopathy. | 27304844 |
| 2017-06-10 11:08:00 | ATM induces MacroD2 nuclear export upon DNA damage. | 28069995 |
| Type | IDs |
|---|---|
| Synonymous | C20orf133, C2orf133 |
| Gene |
UniProtKB-ID:
MACD2_HUMAN
UniprotKB:
A1Z1Q3
UniParc:
UPI0000420DA3,
UPI00005B2E12,
UPI000045882F,
UPI00004A2537,
UPI0000160AD0
EMBL:
AL117333,
AL035073,
AL357654,
BC126936,
BC018687,
AL049867,
AL136991,
AL121584,
AL355133,
BC101216,
AL050324,
BC101219,
EF159161,
AL158088,
AK131348,
AK125899,
BC035876,
AL139825,
AL353798,
CH471133,
AL118503,
AL049633,
AL079338,
AL161800,
AL118510,
AL132826,
AL121582,
BC101218,
AL133462,
AL136992,
BC101217,
AL354773,
AC006198,
AL138808
Ensembl:
ENSG00000172264
KO:
hsa:140733
|
| Nucleutide sequences |
EMBL-CDS:
AAH18687.1,
BAG54262.1,
EAX10302.1,
BAD18504.1,
ABM46908.1,
EAX10293.1
Ensembl_TRS:
ENST00000217246,
ENST00000407045,
ENST00000378058,
ENST00000402914
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385290,
ENSP00000385516,
ENSP00000217246,
ENSP00000367297
RefSeq:
XP_024307602.1,
NP_542407.2,
NP_001338592.1,
NP_001338590.1,
NP_001338593.1,
XP_016883165.1,
XP_016883164.1,
NP_001028259.1
|
| Others |
UniRef100:
UniRef100_A1Z1Q3
UniRef90:
UniRef90_A1Z1Q3
UniRef50:
UniRef50_A1Z1Q3
UniGene:
Hs.661576
CCDS:
CCDS33443.1,
CCDS13120.2
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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