AFF2
entrez
2334
canonical
uniprot
P51816
canonical
ensembl
ENSG00000155966
resolver
ensp
ENSP00000286437
resolver
ensp
ENSP00000345459
resolver
ensp
ENSP00000359486
resolver
ensp
ENSP00000359489
resolver
genesymbol
AFF2
resolver
genesymbol_syn
FMR2
resolver
genesymbol_syn
OX19
resolver
hgnc
HGNC:3776
resolver
uniprot
A2RTY4
resolver
uniprot
B4DXD5
resolver
uniprot
B7WNQ1
resolver
uniprot
B7ZLD6
resolver
uniprot
B7ZLD9
resolver
uniprot
O43786
resolver
uniprot
O60215
resolver
uniprot
P78407
resolver
uniprot
Q13521
resolver
uniprot
Q14323
resolver
uniprot
Q7Z2F7
resolver
uniprot
Q7Z400
resolver
uniprot
Q9UNA5
resolver
uniprot_entry
AFF2_HUMAN
resolver
uniprot_sec
A2RTY4
resolver
uniprot_sec
B4DXD5
resolver
uniprot_sec
B7WNQ1
resolver
uniprot_sec
B7ZLD6
resolver
uniprot_sec
B7ZLD9
resolver
uniprot_sec
O43786
resolver
uniprot_sec
O60215
resolver
uniprot_sec
P78407
resolver
uniprot_sec
Q13521
resolver
uniprot_sec
Q14323
resolver
uniprot_sec
Q7Z2F7
resolver
uniprot_sec
Q7Z400
resolver
uniprot_sec
Q9UNA5
resolver
amino_acid_sequence
MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEYTNKGDALANRVQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKNRIIPPHQDNTHPSAPMPPPSVVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNKMQTLTQDQSQAKLEDFFVYPAEQPQIGEVEESNPSAKEDSNPNSSGEDAFKEIFQSNSPEESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSMGQQKPTAYVRPMDGQDQAPDISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSLPSDPSCVEEILREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFKSMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQASGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQNKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRPTQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKESVELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDSNTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLSISNEEPTFSPIPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTAVTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNSSRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGKFCATFKGISVNEGDTPKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTTTTISTITSTITTGLMDSSHLEMTSWAALPLLSSSSTNVRRPKLTFDDSVHNADYYMQEAKKLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYTMYSETVELLRYAMRLKNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIPSPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHWDMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 109 (XLID109) [MIM:309548]: A form of mild to moderate intellectual disability associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:19136466, ECO:0000269|PubMed:21739600}. Note=The disease is caused by variants affecting the gene represented in this entry. It is caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island.
uniprot
proteins
function
FUNCTION: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. {ECO:0000269|PubMed:19136466}.
uniprot
proteins
mass_dalton
144771
uniprot
proteins
protein_family
AF4 family
uniprot
proteins
pubmed
12777533
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
19136466
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21739600
uniprot
proteins
pubmed
8673085
uniprot
proteins
pubmed
8673086
uniprot
proteins
pubmed
8824884
uniprot
proteins
pubmed
9299237
uniprot
proteins
pubmed
9467002
uniprot
proteins
sequence_length
1311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:19136466}. Note=When splicing is inhibited, accumulates in enlarged speckles.
uniprot
proteins