KEGG   Homo sapiens (human): 2334
Entry
2334              CDS       T01001                                 
Symbol
AFF2, FMR2, FMR2P, FRAXE, MRX2, OX19, XLID109
Name
(RefSeq) ALF transcription elongation factor 2
  KO
K15194  AF4/FMR2 family member 2
Organism
hsa  Homo sapiens (human)
Disease
H00480  X-linked intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    2334 (AFF2)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Other transcription-related factors
    Others
     2334 (AFF2)
SSDB
Motif
Pfam: AF-4 AFF4_CHD AF4_int
Other DBs
NCBI-GeneID: 2334
NCBI-ProteinID: NP_002016
OMIM: 300806
HGNC: 3776
Ensembl: ENSG00000155966
UniProt: P51816
Position
X:148500617..149000663
AA seq 1311 aa
MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEY
TNKGDALANRVQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKN
RIIPPHQDNTHPSAPMPPPSVVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNK
MQTLTQDQSQAKLEDFFVYPAEQPQIGEVEESNPSAKEDSNPNSSGEDAFKEIFQSNSPE
ESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSMGQQKPTAYVRPMDGQDQAPD
ISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSLPSDPSCVEEI
LREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFK
SMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQA
SGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQ
NKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRP
TQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKES
VELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDS
NTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLSISNEEPTFSP
IPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTA
VTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNS
SRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGK
FCATFKGISVNEGDTPKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTT
TTISTITSTITTGLMDSSHLEMTSWAALPLLSSSSTNVRRPKLTFDDSVHNADYYMQEAK
KLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYTMYSETVELLRYAMRL
KNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIP
SPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHW
DMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL
NT seq 3936 nt   +upstreamnt  +downstreamnt
atggatctattcgactttttcagagactgggacttggagcagcagtgtcactatgaacaa
gaccgtagtgcacttaaaaaaagggaatgggagcggaggaatcaagaagtccagcaagaa
gacgatctcttttcttcaggctttgatctttttggggagccatacaaggtagctgaatat
acaaacaaaggtgatgcacttgccaaccgagtccagaacacgcttggaaactatgatgaa
atgaagaatttgctaactaaccattctaatcagaatcacctagtgggaattccaaagaat
tctgtgccccagaatcccaacaacaaaaatgaaccaagcttttttccagaacaaaagaac
agaataattccacctcaccaggataatacccatccttcagcaccaatgcctccaccttct
gttgtgatactgaattcaactctaatacacagcaacagaaaatcaaaacctgagtggtca
cgtgatagtcataaccctagcactgtactggcaagccaggccagtggtcagccaaacaag
atgcagactttgacacaggaccagtctcaagccaaactggaagacttctttgtctaccca
gctgaacagccccagattggagaagttgaagagtcaaacccatctgcaaaggaagacagt
aaccctaattctagtggagaagatgctttcaaagaaatctttcaatccaattcaccggaa
gaatctgaattcgccgtgcaagcgcctgggtctcccctagtggcttcctctttattagct
cctagcagtggcctttcagttcaaaacttcccaccagggctttactgcaaaacaagcatg
gggcagcaaaagccaactgcatacgtcagacccatggatggccaggaccaggcaccggac
atctcaccaacactgaaaccttcaattgaatttgagaacagctttgggaatctgtcattt
ggaacactcttggatggaaaacccagtgcagccagttcaaagactaaactgccaaagttc
accatcctccaaacaagtgaagtaagccttcccagtgatccaagctgtgttgaagaaatc
ttgcgggagatgacccattcctggcctactcctctcacttccatgcatactgctggacac
tctgagcagagcaccttttccatcccaggacaggaatcgcagcatctgaccccaggattc
accttacaaaagtggaatgacccaaccaccagagcttctacaaagtcagtgtctttcaaa
tcgatgcttgaggatgacctgaagctgagcagtgatgaagatgaccttgagcctgtgaag
accttgaccactcagtgcactgccactgagctctaccaggctgttgaaaaggcaaaacct
aggaataatcctgtgaacccacccttggccactccccagcccccacctgcagtgcaagcc
agcgggggttctggcagctccagcgaatcggagagcagctctgagtcggattcagacact
gaaagtagcaccactgacagcgaatctaatgaggcacctcgtgtggcaactccagagcct
gagccaccctcaaccaacaagtggcaactggataaatggcttaacaaagtgacatcccag
aacaagtcttttatttgtggccaaaatgaaacacccatggagactatttctctgcctcct
ccaatcatccaaccaatggaagtccagatgaaagtgaagacgaatgccagtcaggtccca
gctgaacccaaagaaaggcctctcctcagtctcattagggagaaagcccgtccacggccc
actcagaaaattccagaaacaaaggctttgaagcataagttgtcaacaactagtgagaca
gtgtctcaaaggacaattgggaaaaaacagcccaaaaaagttgagaagaacaccagcact
gacgagtttacctggcccaaaccaaatattaccagcagcactcccaaagaaaaagaaagt
gtggagcttcatgacccaccaagaggccgcaacaaagccactgcccacaaaccagcccct
aggaaagaaccaagacctaacatccctttggctcccgagaagaagaagtacagagggcct
ggcaagattgtgccaaagtctcgggaattcattgaaacagattcatctacatctgactcc
aacacagatcaggaagagaccctgcaaatcaaagtcctgcctccgtgcattatttctgga
ggtaatactgccaaatccaaggaaatctgtggtgccagcctgaccctcagcaccttaatg
agtagcagtggcagcaacaacaacttatccatcagtaatgaagagccaacattttcacct
attcctgtcatgcaaactgaaatcctgtcccctctgcgagatcatgagaacctgaaaaac
ctctgggtgaagattgaccttgacttactctctagagtacctggccacagctcactccat
gcagcacctgccaagccagaccacaaggagactgccacaaaacccaagcgtcagacagct
gtcacagctgtggagaaaccagcccctaagggcaaacgtaagcacaagccaatagaagtt
gcagagaagatccctgagaagaagcagcgcctggaggaggccacaactatctgcttgctc
cctccttgcatctcaccagccccaccccacaagcctcccaacactagagaaaataattca
tccaggagagcaaatagaagaaaggaagaaaaactatttcctcctccactttccccactg
ccagaggaccctccacgccgcagaaatgtcagtggcaataatggtccctttggtcaagac
aaaaacatcgccatgactggacaaatcacatctaccaaacctaagagaactgaaggcaaa
ttctgtgctactttcaaagggatatcggtaaatgagggagacactccaaaaaaggcatcc
tctgccaccatcactgtcaccaatactgctattgccactgctactgtcactgctactgcc
attgtcaccaccactgtcacagctactgccaccgccacggccaccaccacaactactacc
actaccatttccaccatcacctctaccatcactactggcctcatggatagcagtcacctg
gagatgacgtcctgggcggctctgccccttctatccagcagcagcactaatgtccggaga
cccaagctcacttttgatgactcggttcacaatgctgattattacatgcaagaagctaag
aagctgaagcacaaagctgatgcactgttcgagaaatttggcaaagctgtgaattatgct
gatgccgccctctccttcactgaatgtggcaatgccatggaacgcgaccctctggaagca
aagtccccatacaccatgtactctgagactgtggagctcctcaggtatgcaatgaggctg
aagaactttgcaagtcccttggcttcggatggggacaaaaagctagcagtactatgctac
cgatgtttatcactcctctatttgagaatgtttaagctgaagaaggaccatgctatgaag
tactccagatcactgatggaatattttaagcaaaatgcttcaaaagtcgcacagataccc
tctccatgggtaagcaatggaaagaacactccatccccagtgtctctcaacaacgtctcc
cccatcaacgcaatggggaactgtaacaatggcccagtcaccattccccagcgcattcac
cacatggctgccagccacgtcaacatcactagcaatgtgttacggggctatgaacactgg
gatatggccgacaaactgacaagagaaaacaaagaattctttggtgatctggacacgctg
atggggcctctgacccagcacagcagcatgaccaatcttgtccgctacgttcgccaagga
ctgtgttggctgcgcatcgatgcccacttgttgtag

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