| Type | Description |
|---|---|
| Definition | methyl-CpG binding domain protein 5 |
| Date | Results | Publications |
|---|---|---|
| 2018-05-19 11:04:00 | Based on segregation analysis of a patient (case 296491) with an intragenic deletion of the MBD5 gene, we classified deletions of exons 3 to 4 of the 5' untranslated region (UTR) of this gene as probably benign. The deletion of exon 3 was shared with the father and paternal uncle, both unaffected | 28295210 |
| 2017-12-09 12:47:00 | A novel frameshift mutation c.254_255delGA (p.Arg85Asnfs*6) in the MBD5 gene was identified in a family with intellectual disability and epilepsy. | 28807762 |
| 2016-02-06 12:17:00 | Circadian rhythm gene expression altered by haploinsufficiency of MBD5. | 25271084 |
| 2016-01-16 12:11:00 | Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. | 25853262 |
| 2016-01-16 10:06:00 | Reduced MBD5 dosage leads to mRNA and microRNA expression patterns and DNA methylation patterns more characteristic of differentiating than proliferating neural stem cells. This balance change may underlie neurodevelopmental disorders. | 25966365 |
| Type | IDs |
|---|---|
| Synonymous | MRD1 |
| Gene |
UniProtKB-ID:
MBD5_HUMAN
UniprotKB:
Q9P267
UniParc:
UPI0000208C40,
UPI00003BF755
EMBL:
BC014534,
EF542797,
CH471058,
AC016731,
AK001975,
BC150264,
AB040894
Ensembl:
ENSG00000204406
KO:
hsa:55777
|
| Nucleutide sequences |
EMBL-CDS:
AAY14912.1,
AAI50265.1,
BAA95985.1,
EAX11552.1,
BAA92013.1,
ABQ18300.1
Ensembl_TRS:
ENST00000627651,
ENST00000407073
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000486370,
ENSP00000386049
RefSeq:
NP_001365049.1,
XP_024308757.1,
XP_024308758.1,
NP_060798.2,
XP_011509774.1,
XP_011509772.1,
XP_024308756.1
|
| Others |
UniRef100:
UniRef100_Q9P267
UniRef90:
UniRef90_Q9P267
UniRef50:
UniRef50_Q9P267
UniGene:
Hs.458312
CCDS:
CCDS33302.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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