| Type | Description |
|---|---|
| Definition | AF4/FMR2 family member 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-14 11:37:00 | AFF2/FMR2 regulates the transcription and toxicity of expanded G4C2 repeats in human C9ORF72-ALS/FTD neurons. | 31784536 |
| 2015-07-25 10:34:00 | Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia. | 25256661 |
| 2014-02-01 10:43:00 | FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular. | 23562910 |
| 2013-03-16 10:30:00 | 2.5% of males Autism spectrum disorder patients had missense mutations in AFF2 at highly conserved evolutionary sites. | 22773736 |
| 2012-05-05 10:04:00 | A report of novel deletions involving AFF2 provide evidence for a new mutational spectrum, microdeletions, that are responsible for Fragile X E in a small subset of patients. | 22065534 |
| Type | IDs |
|---|---|
| Synonymous | FMR2, FMR2P, FRAXE, MRX2, OX19 |
| Gene |
UniProtKB-ID:
AFF2_HUMAN
UniprotKB:
P51816
UniParc:
UPI000049E130,
UPI000013FEC8,
UPI0001C0B377,
UPI00017A80C4,
UPI000049E131,
UPI00019B21D8,
UPI000002A9E1
EMBL:
AF012604,
AF012614,
AB101724,
AF012606,
AC231841,
AB101711,
AF012609,
AB101725,
AB101727,
AB101715,
AB101719,
AF012616,
AB101722,
AB101712,
AB101729,
AC005731,
AB101718,
AB101723,
AH008014,
AF012623,
AF012603,
AB101717,
AB101713,
AC006516,
AF012619,
AJ001550,
X95463,
AF012621,
AF012624,
AB101720,
L76569,
AB101716,
AF012620,
AF012611,
AF012617,
AB101730,
AF012607,
AB102644,
AF012618,
AK301927,
AC002368,
AF012615,
AF012612,
AF012610,
U48436,
BC143740,
AB101728,
AF012608,
AB101721,
AF012613,
AC015552,
AF012622,
AB101714,
BC132683,
CH471171,
AB101726,
BC143744,
AF012605
Ensembl:
ENSG00000155966
KO:
hsa:2334
|
| Nucleutide sequences |
EMBL-CDS:
AAI43741.1,
BAC80301.1,
BAC80318.1,
BAC80319.1,
BAC80305.1,
BAC80309.1,
BAC80313.1,
BAC80316.1,
BAG63347.1,
BAC80302.1,
CAA04822.1,
AAC82513.1,
BAC80300.1,
AAB71534.1,
BAC80312.1,
BAC80306.1,
BAC80317.1,
BAC81113.1,
EAW61288.1,
BAC80310.1,
AAA99416.1,
BAC80307.1,
AAI32684.1,
BAC80315.1,
BAC80304.1,
AAI43745.1,
BAC80314.1,
AAD45878.1,
BAC80303.1,
CAA64730.1,
BAC80311.1,
BAC80308.1
Ensembl_TRS:
ENST00000286437,
ENST00000342251,
ENST00000370458,
ENST00000370460,
ENST00000370457
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359487,
ENSP00000359489,
ENSP00000345459,
ENSP00000359486,
ENSP00000286437
RefSeq:
NP_001162594.1,
NP_001162596.1,
NP_002016.2,
NP_001162595.1,
NP_001162593.1,
NP_001164099.1
|
| Others |
UniRef100:
UniRef100_P51816
UniRef90:
UniRef90_P51816
UniRef50:
UniRef50_P51816
UniGene:
Hs.496911
CCDS:
CCDS78510.1,
CCDS14684.1,
CCDS55521.1,
CCDS76040.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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