P51816 (AFF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AF4/FMR2 family member 2

Alternative name(s):
Fragile X E mental retardation syndrome protein
Fragile X mental retardation 2 protein
Short name=FMR2P
Short name=Protein FMR-2
Protein Ox19

Gene names

Name:	AFF2
Synonyms:	FMR2, OX19

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1311 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Ref.11
Subcellular location	Nucleus speckle. Note: When splicing is inhibited, accumlates in enlarged speckles. Ref.11
Tissue specificity	Brain (most abundant in hippocampus and amygdala), placenta and lung.
Involvement in disease	Defects in AFF2 are the cause of mental retardation X-linked associated with fragile site FRAXE (MRFRAXE) [MIM:309548]. A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note=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 CCGN 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. Ref.11 Ref.13
Sequence similarities	Belongs to the AF4 family.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism Triplet repeat expansion
Disease	Mental retardation
Ligand	RNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	RNA splicing Inferred from electronic annotation. Source: UniProtKB-KW brain development Traceable author statement. Source: ProtInc mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW regulation of RNA splicing Inferred from mutant phenotype Ref.11. Source: UniProtKB
Cellular component	nuclear speck Inferred from direct assay Ref.11. Source: UniProtKB
Molecular function	G-quadruplex RNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P51816-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P51816-2)

The sequence of this isoform differs from the canonical sequence as follows:
     57-60: Missing.
     364-392: Missing.
     416-421: Missing.

Isoform 3 (identifier: P51816-3)

The sequence of this isoform differs from the canonical sequence as follows:
     57-60: Missing.
     364-392: Missing.
     970-971: Missing.

Isoform 4 (identifier: P51816-4)

The sequence of this isoform differs from the canonical sequence as follows:
     57-60: Missing.
     364-392: Missing.
     416-421: Missing.
     466-466: N → K
     467-1311: Missing.

Isoform 5 (identifier: P51816-5)

The sequence of this isoform differs from the canonical sequence as follows:
     57-60: Missing.
     416-421: Missing.

Note: No experimental confirmation available.

Isoform 6 (identifier: P51816-6)

The sequence of this isoform differs from the canonical sequence as follows:
     364-392: Missing.
     416-421: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1311	1311	AF4/FMR2 family member 2		PRO_0000215912
Amino acid modifications
	Modified residue	517	1	Phosphothreonine Ref.12
Natural variations
	Alternative sequence	57 – 60	4	Missing in isoform 2, isoform 3, isoform 4 and isoform 5.		VSP_000211
	Alternative sequence	364 – 392	29	Missing in isoform 2, isoform 3, isoform 4 and isoform 6.		VSP_000212
	Alternative sequence	416 – 421	6	Missing in isoform 2, isoform 4, isoform 5 and isoform 6.		VSP_000213
	Alternative sequence	466	1	N → K in isoform 4.		VSP_000214
	Alternative sequence	467 – 1311	845	Missing in isoform 4.		VSP_000215
	Alternative sequence	970 – 971	2	Missing in isoform 3.		VSP_000216
	Natural variant	1185	1	L → M. Corresponds to variant rs12858959 [ dbSNP | Ensembl ].		VAR_028217
Experimental info
	Sequence conflict	195	1	D → A in CAA64730. Ref.3
	Sequence conflict	470	1	A → V in AAA99416. Ref.2
	Sequence conflict	548	1	Q → P in AAC82513. Ref.1
	Sequence conflict	548	1	Q → P in AAA99416. Ref.2
	Sequence conflict	548	1	Q → P in AAB71534. Ref.4
	Sequence conflict	1043	1	T → M in AAI32684. Ref.9
	Sequence conflict	1043	1	T → M in AAI43741. Ref.9
	Sequence conflict	1043	1	T → M in AAI43745. Ref.9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 4. Checksum: B5310BC074F893CB	FASTA	1,311	144,771
	10 20 30 40 50 60 MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKVAEY 70 80 90 100 110 120 TNKGDALANR VQNTLGNYDE MKNLLTNHSN QNHLVGIPKN SVPQNPNNKN EPSFFPEQKN 130 140 150 160 170 180 RIIPPHQDNT HPSAPMPPPS VVILNSTLIH SNRKSKPEWS RDSHNPSTVL ASQASGQPNK 190 200 210 220 230 240 MQTLTQDQSQ AKLEDFFVYP AEQPQIGEVE ESNPSAKEDS NPNSSGEDAF KEIFQSNSPE 250 260 270 280 290 300 ESEFAVQAPG SPLVASSLLA PSSGLSVQNF PPGLYCKTSM GQQKPTAYVR PMDGQDQAPD 310 320 330 340 350 360 ISPTLKPSIE FENSFGNLSF GTLLDGKPSA ASSKTKLPKF TILQTSEVSL PSDPSCVEEI 370 380 390 400 410 420 LREMTHSWPT PLTSMHTAGH SEQSTFSIPG QESQHLTPGF TLQKWNDPTT RASTKSVSFK 430 440 450 460 470 480 SMLEDDLKLS SDEDDLEPVK TLTTQCTATE LYQAVEKAKP RNNPVNPPLA TPQPPPAVQA 490 500 510 520 530 540 SGGSGSSSES ESSSESDSDT ESSTTDSESN EAPRVATPEP EPPSTNKWQL DKWLNKVTSQ 550 560 570 580 590 600 NKSFICGQNE TPMETISLPP PIIQPMEVQM KVKTNASQVP AEPKERPLLS LIREKARPRP 610 620 630 640 650 660 TQKIPETKAL KHKLSTTSET VSQRTIGKKQ PKKVEKNTST DEFTWPKPNI TSSTPKEKES 670 680 690 700 710 720 VELHDPPRGR NKATAHKPAP RKEPRPNIPL APEKKKYRGP GKIVPKSREF IETDSSTSDS 730 740 750 760 770 780 NTDQEETLQI KVLPPCIISG GNTAKSKEIC GASLTLSTLM SSSGSNNNLS ISNEEPTFSP 790 800 810 820 830 840 IPVMQTEILS PLRDHENLKN LWVKIDLDLL SRVPGHSSLH AAPAKPDHKE TATKPKRQTA 850 860 870 880 890 900 VTAVEKPAPK GKRKHKPIEV AEKIPEKKQR LEEATTICLL PPCISPAPPH KPPNTRENNS 910 920 930 940 950 960 SRRANRRKEE KLFPPPLSPL PEDPPRRRNV SGNNGPFGQD KNIAMTGQIT STKPKRTEGK 970 980 990 1000 1010 1020 FCATFKGISV NEGDTPKKAS SATITVTNTA IATATVTATA IVTTTVTATA TATATTTTTT 1030 1040 1050 1060 1070 1080 TTISTITSTI TTGLMDSSHL EMTSWAALPL LSSSSTNVRR PKLTFDDSVH NADYYMQEAK 1090 1100 1110 1120 1130 1140 KLKHKADALF EKFGKAVNYA DAALSFTECG NAMERDPLEA KSPYTMYSET VELLRYAMRL 1150 1160 1170 1180 1190 1200 KNFASPLASD GDKKLAVLCY RCLSLLYLRM FKLKKDHAMK YSRSLMEYFK QNASKVAQIP 1210 1220 1230 1240 1250 1260 SPWVSNGKNT PSPVSLNNVS PINAMGNCNN GPVTIPQRIH HMAASHVNIT SNVLRGYEHW 1270 1280 1290 1300 1310 DMADKLTREN KEFFGDLDTL MGPLTQHSSM TNLVRYVRQG LCWLRIDAHL L
	Isoform 2 [UniParc]. Checksum: 15EBFC9FEF5E06B8	FASTA	1,272	140,507
	10 20 30 40 50 60 MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKTNKG 70 80 90 100 110 120 DALANRVQNT LGNYDEMKNL LTNHSNQNHL VGIPKNSVPQ NPNNKNEPSF FPEQKNRIIP 130 140 150 160 170 180 PHQDNTHPSA PMPPPSVVIL NSTLIHSNRK SKPEWSRDSH NPSTVLASQA SGQPNKMQTL 190 200 210 220 230 240 TQDQSQAKLE DFFVYPAEQP QIGEVEESNP SAKEDSNPNS SGEDAFKEIF QSNSPEESEF 250 260 270 280 290 300 AVQAPGSPLV ASSLLAPSSG LSVQNFPPGL YCKTSMGQQK PTAYVRPMDG QDQAPDISPT 310 320 330 340 350 360 LKPSIEFENS FGNLSFGTLL DGKPSAASSK TKLPKFTILQ TSEVSLPSDP SCVEEILRES 370 380 390 400 410 420 QHLTPGFTLQ KWNDPTTRAS TKMLEDDLKL SSDEDDLEPV KTLTTQCTAT ELYQAVEKAK 430 440 450 460 470 480 PRNNPVNPPL ATPQPPPAVQ ASGGSGSSSE SESSSESDSD TESSTTDSES NEAPRVATPE 490 500 510 520 530 540 PEPPSTNKWQ LDKWLNKVTS QNKSFICGQN ETPMETISLP PPIIQPMEVQ MKVKTNASQV 550 560 570 580 590 600 PAEPKERPLL SLIREKARPR PTQKIPETKA LKHKLSTTSE TVSQRTIGKK QPKKVEKNTS 610 620 630 640 650 660 TDEFTWPKPN ITSSTPKEKE SVELHDPPRG RNKATAHKPA PRKEPRPNIP LAPEKKKYRG 670 680 690 700 710 720 PGKIVPKSRE FIETDSSTSD SNTDQEETLQ IKVLPPCIIS GGNTAKSKEI CGASLTLSTL 730 740 750 760 770 780 MSSSGSNNNL SISNEEPTFS PIPVMQTEIL SPLRDHENLK NLWVKIDLDL LSRVPGHSSL 790 800 810 820 830 840 HAAPAKPDHK ETATKPKRQT AVTAVEKPAP KGKRKHKPIE VAEKIPEKKQ RLEEATTICL 850 860 870 880 890 900 LPPCISPAPP HKPPNTRENN SSRRANRRKE EKLFPPPLSP LPEDPPRRRN VSGNNGPFGQ 910 920 930 940 950 960 DKNIAMTGQI TSTKPKRTEG KFCATFKGIS VNEGDTPKKA SSATITVTNT AIATATVTAT 970 980 990 1000 1010 1020 AIVTTTVTAT ATATATTTTT TTTISTITST ITTGLMDSSH LEMTSWAALP LLSSSSTNVR 1030 1040 1050 1060 1070 1080 RPKLTFDDSV HNADYYMQEA KKLKHKADAL FEKFGKAVNY ADAALSFTEC GNAMERDPLE 1090 1100 1110 1120 1130 1140 AKSPYTMYSE TVELLRYAMR LKNFASPLAS DGDKKLAVLC YRCLSLLYLR MFKLKKDHAM 1150 1160 1170 1180 1190 1200 KYSRSLMEYF KQNASKVAQI PSPWVSNGKN TPSPVSLNNV SPINAMGNCN NGPVTIPQRI 1210 1220 1230 1240 1250 1260 HHMAASHVNI TSNVLRGYEH WDMADKLTRE NKEFFGDLDT LMGPLTQHSS MTNLVRYVRQ 1270 GLCWLRIDAH LL
	Isoform 3 [UniParc]. Checksum: 09C53FF308FA368F	FASTA	1,276	140,930
	10 20 30 40 50 60 MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKTNKG 70 80 90 100 110 120 DALANRVQNT LGNYDEMKNL LTNHSNQNHL VGIPKNSVPQ NPNNKNEPSF FPEQKNRIIP 130 140 150 160 170 180 PHQDNTHPSA PMPPPSVVIL NSTLIHSNRK SKPEWSRDSH NPSTVLASQA SGQPNKMQTL 190 200 210 220 230 240 TQDQSQAKLE DFFVYPAEQP QIGEVEESNP SAKEDSNPNS SGEDAFKEIF QSNSPEESEF 250 260 270 280 290 300 AVQAPGSPLV ASSLLAPSSG LSVQNFPPGL YCKTSMGQQK PTAYVRPMDG QDQAPDISPT 310 320 330 340 350 360 LKPSIEFENS FGNLSFGTLL DGKPSAASSK TKLPKFTILQ TSEVSLPSDP SCVEEILRES 370 380 390 400 410 420 QHLTPGFTLQ KWNDPTTRAS TKSVSFKSML EDDLKLSSDE DDLEPVKTLT TQCTATELYQ 430 440 450 460 470 480 AVEKAKPRNN PVNPPLATPQ PPPAVQASGG SGSSSESESS SESDSDTESS TTDSESNEAP 490 500 510 520 530 540 RVATPEPEPP STNKWQLDKW LNKVTSQNKS FICGQNETPM ETISLPPPII QPMEVQMKVK 550 560 570 580 590 600 TNASQVPAEP KERPLLSLIR EKARPRPTQK IPETKALKHK LSTTSETVSQ RTIGKKQPKK 610 620 630 640 650 660 VEKNTSTDEF TWPKPNITSS TPKEKESVEL HDPPRGRNKA TAHKPAPRKE PRPNIPLAPE 670 680 690 700 710 720 KKKYRGPGKI VPKSREFIET DSSTSDSNTD QEETLQIKVL PPCIISGGNT AKSKEICGAS 730 740 750 760 770 780 LTLSTLMSSS GSNNNLSISN EEPTFSPIPV MQTEILSPLR DHENLKNLWV KIDLDLLSRV 790 800 810 820 830 840 PGHSSLHAAP AKPDHKETAT KPKRQTAVTA VEKPAPKGKR KHKPIEVAEK IPEKKQRLEE 850 860 870 880 890 900 ATTICLLPPC ISPAPPHKPP NTRENNSSRR ANRRKEEKLF PPPLSPLPED PPRRRNVSGN 910 920 930 940 950 960 NGPFGQDKNI AMTGQITSTK PKRTEGKFCA TFKGISEGDT PKKASSATIT VTNTAIATAT 970 980 990 1000 1010 1020 VTATAIVTTT VTATATATAT TTTTTTTIST ITSTITTGLM DSSHLEMTSW AALPLLSSSS 1030 1040 1050 1060 1070 1080 TNVRRPKLTF DDSVHNADYY MQEAKKLKHK ADALFEKFGK AVNYADAALS FTECGNAMER 1090 1100 1110 1120 1130 1140 DPLEAKSPYT MYSETVELLR YAMRLKNFAS PLASDGDKKL AVLCYRCLSL LYLRMFKLKK 1150 1160 1170 1180 1190 1200 DHAMKYSRSL MEYFKQNASK VAQIPSPWVS NGKNTPSPVS LNNVSPINAM GNCNNGPVTI 1210 1220 1230 1240 1250 1260 PQRIHHMAAS HVNITSNVLR GYEHWDMADK LTRENKEFFG DLDTLMGPLT QHSSMTNLVR 1270 YVRQGLCWLR IDAHLL
	Isoform 4 [UniParc]. Checksum: 0933BC2B037D813E	FASTA	427	47,654
	10 20 30 40 50 60 MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKTNKG 70 80 90 100 110 120 DALANRVQNT LGNYDEMKNL LTNHSNQNHL VGIPKNSVPQ NPNNKNEPSF FPEQKNRIIP 130 140 150 160 170 180 PHQDNTHPSA PMPPPSVVIL NSTLIHSNRK SKPEWSRDSH NPSTVLASQA SGQPNKMQTL 190 200 210 220 230 240 TQDQSQAKLE DFFVYPAEQP QIGEVEESNP SAKEDSNPNS SGEDAFKEIF QSNSPEESEF 250 260 270 280 290 300 AVQAPGSPLV ASSLLAPSSG LSVQNFPPGL YCKTSMGQQK PTAYVRPMDG QDQAPDISPT 310 320 330 340 350 360 LKPSIEFENS FGNLSFGTLL DGKPSAASSK TKLPKFTILQ TSEVSLPSDP SCVEEILRES 370 380 390 400 410 420 QHLTPGFTLQ KWNDPTTRAS TKMLEDDLKL SSDEDDLEPV KTLTTQCTAT ELYQAVEKAK PRNNPVK
	Isoform 5 [UniParc]. Checksum: 2AC19B95544C56DC	FASTA	1,301	143,673
	10 20 30 40 50 60 MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKTNKG 70 80 90 100 110 120 DALANRVQNT LGNYDEMKNL LTNHSNQNHL VGIPKNSVPQ NPNNKNEPSF FPEQKNRIIP 130 140 150 160 170 180 PHQDNTHPSA PMPPPSVVIL NSTLIHSNRK SKPEWSRDSH NPSTVLASQA SGQPNKMQTL 190 200 210 220 230 240 TQDQSQAKLE DFFVYPAEQP QIGEVEESNP SAKEDSNPNS SGEDAFKEIF QSNSPEESEF 250 260 270 280 290 300 AVQAPGSPLV ASSLLAPSSG LSVQNFPPGL YCKTSMGQQK PTAYVRPMDG QDQAPDISPT 310 320 330 340 350 360 LKPSIEFENS FGNLSFGTLL DGKPSAASSK TKLPKFTILQ TSEVSLPSDP SCVEEILREM 370 380 390 400 410 420 THSWPTPLTS MHTAGHSEQS TFSIPGQESQ HLTPGFTLQK WNDPTTRAST KMLEDDLKLS 430 440 450 460 470 480 SDEDDLEPVK TLTTQCTATE LYQAVEKAKP RNNPVNPPLA TPQPPPAVQA SGGSGSSSES 490 500 510 520 530 540 ESSSESDSDT ESSTTDSESN EAPRVATPEP EPPSTNKWQL DKWLNKVTSQ NKSFICGQNE 550 560 570 580 590 600 TPMETISLPP PIIQPMEVQM KVKTNASQVP AEPKERPLLS LIREKARPRP TQKIPETKAL 610 620 630 640 650 660 KHKLSTTSET VSQRTIGKKQ PKKVEKNTST DEFTWPKPNI TSSTPKEKES VELHDPPRGR 670 680 690 700 710 720 NKATAHKPAP RKEPRPNIPL APEKKKYRGP GKIVPKSREF IETDSSTSDS NTDQEETLQI 730 740 750 760 770 780 KVLPPCIISG GNTAKSKEIC GASLTLSTLM SSSGSNNNLS ISNEEPTFSP IPVMQTEILS 790 800 810 820 830 840 PLRDHENLKN LWVKIDLDLL SRVPGHSSLH AAPAKPDHKE TATKPKRQTA VTAVEKPAPK 850 860 870 880 890 900 GKRKHKPIEV AEKIPEKKQR LEEATTICLL PPCISPAPPH KPPNTRENNS SRRANRRKEE 910 920 930 940 950 960 KLFPPPLSPL PEDPPRRRNV SGNNGPFGQD KNIAMTGQIT STKPKRTEGK FCATFKGISV 970 980 990 1000 1010 1020 NEGDTPKKAS SATITVTNTA IATATVTATA IVTTTVTATA TATATTTTTT TTISTITSTI 1030 1040 1050 1060 1070 1080 TTGLMDSSHL EMTSWAALPL LSSSSTNVRR PKLTFDDSVH NADYYMQEAK KLKHKADALF 1090 1100 1110 1120 1130 1140 EKFGKAVNYA DAALSFTECG NAMERDPLEA KSPYTMYSET VELLRYAMRL KNFASPLASD 1150 1160 1170 1180 1190 1200 GDKKLAVLCY RCLSLLYLRM FKLKKDHAMK YSRSLMEYFK QNASKVAQIP SPWVSNGKNT 1210 1220 1230 1240 1250 1260 PSPVSLNNVS PINAMGNCNN GPVTIPQRIH HMAASHVNIT SNVLRGYEHW DMADKLTREN 1270 1280 1290 1300 KEFFGDLDTL MGPLTQHSSM TNLVRYVRQG LCWLRIDAHL L
	Isoform 6 [UniParc]. Checksum: 41CF55C63266C471	FASTA	1,276	140,970
	10 20 30 40 50 60 MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL FGEPYKVAEY 70 80 90 100 110 120 TNKGDALANR VQNTLGNYDE MKNLLTNHSN QNHLVGIPKN SVPQNPNNKN EPSFFPEQKN 130 140 150 160 170 180 RIIPPHQDNT HPSAPMPPPS VVILNSTLIH SNRKSKPEWS RDSHNPSTVL ASQASGQPNK 190 200 210 220 230 240 MQTLTQDQSQ AKLEDFFVYP AEQPQIGEVE ESNPSAKEDS NPNSSGEDAF KEIFQSNSPE 250 260 270 280 290 300 ESEFAVQAPG SPLVASSLLA PSSGLSVQNF PPGLYCKTSM GQQKPTAYVR PMDGQDQAPD 310 320 330 340 350 360 ISPTLKPSIE FENSFGNLSF GTLLDGKPSA ASSKTKLPKF TILQTSEVSL PSDPSCVEEI 370 380 390 400 410 420 LRESQHLTPG FTLQKWNDPT TRASTKMLED DLKLSSDEDD LEPVKTLTTQ CTATELYQAV 430 440 450 460 470 480 EKAKPRNNPV NPPLATPQPP PAVQASGGSG SSSESESSSE SDSDTESSTT DSESNEAPRV 490 500 510 520 530 540 ATPEPEPPST NKWQLDKWLN KVTSQNKSFI CGQNETPMET ISLPPPIIQP MEVQMKVKTN 550 560 570 580 590 600 ASQVPAEPKE RPLLSLIREK ARPRPTQKIP ETKALKHKLS TTSETVSQRT IGKKQPKKVE 610 620 630 640 650 660 KNTSTDEFTW PKPNITSSTP KEKESVELHD PPRGRNKATA HKPAPRKEPR PNIPLAPEKK 670 680 690 700 710 720 KYRGPGKIVP KSREFIETDS STSDSNTDQE ETLQIKVLPP CIISGGNTAK SKEICGASLT 730 740 750 760 770 780 LSTLMSSSGS NNNLSISNEE PTFSPIPVMQ TEILSPLRDH ENLKNLWVKI DLDLLSRVPG 790 800 810 820 830 840 HSSLHAAPAK PDHKETATKP KRQTAVTAVE KPAPKGKRKH KPIEVAEKIP EKKQRLEEAT 850 860 870 880 890 900 TICLLPPCIS PAPPHKPPNT RENNSSRRAN RRKEEKLFPP PLSPLPEDPP RRRNVSGNNG 910 920 930 940 950 960 PFGQDKNIAM TGQITSTKPK RTEGKFCATF KGISVNEGDT PKKASSATIT VTNTAIATAT 970 980 990 1000 1010 1020 VTATAIVTTT VTATATATAT TTTTTTTIST ITSTITTGLM DSSHLEMTSW AALPLLSSSS 1030 1040 1050 1060 1070 1080 TNVRRPKLTF DDSVHNADYY MQEAKKLKHK ADALFEKFGK AVNYADAALS FTECGNAMER 1090 1100 1110 1120 1130 1140 DPLEAKSPYT MYSETVELLR YAMRLKNFAS PLASDGDKKL AVLCYRCLSL LYLRMFKLKK 1150 1160 1170 1180 1190 1200 DHAMKYSRSL MEYFKQNASK VAQIPSPWVS NGKNTPSPVS LNNVSPINAM GNCNNGPVTI 1210 1220 1230 1240 1250 1260 PQRIHHMAAS HVNITSNVLR GYEHWDMADK LTRENKEFFG DLDTLMGPLT QHSSMTNLVR 1270 YVRQGLCWLR IDAHLL

References

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[1]	"Identification of the gene FMR2, associated with FRAXE mental retardation." Gecz J., Gedeon A.K., Sutherland G.R., Mulley J.C. Nat. Genet. 13:105-108(1996) [PubMed: 8673085] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fetal brain and Placenta.
[2]	"Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island." Gu Y., Shen Y., Gibbs R.A., Nelson D.L. Nat. Genet. 13:109-113(1996) [PubMed: 8673086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Brain.
[3]	"A candidate gene for mild mental handicap at the FRAXE fragile site." Chakrabarti L., Knight S.J.L., Flannery A.V., Davies K.E. Hum. Mol. Genet. 5:275-282(1996) [PubMed: 8824884] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Fetal brain.
[4]	"Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators." Gecz J., Bielby S., Sutherland G.R., Mulley J.C. Genomics 44:201-213(1997) [PubMed: 9299237] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[5]	"Expression of the murine homologue of FMR2 in mouse brain and during development." Chakrabarti L., Bristulf J., Foss G.S., Davies K.E. Hum. Mol. Genet. 7:441-448(1998) [PubMed: 9467002] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Brain.
[6]	"Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees." Kitano T., Schwarz C., Nickel B., Paeaebo S. Mol. Biol. Evol. 20:1281-1289(2003) [PubMed: 12777533] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 526-896.
[7]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 5 AND 6). Tissue: Cerebellum.
[10]	Wang L., Thibodeau S.N. Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 348-421 (ISOFORM 1).
[11]	"FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure." Bensaid M., Melko M., Bechara E.G., Davidovic L., Berretta A., Catania M.V., Gecz J., Lalli E., Bardoni B. Nucleic Acids Res. 37:1269-1279(2009) [PubMed: 19136466] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN MRFRAXE.
[12]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-517, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[13]	"Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion." Stettner G.M., Shoukier M., Hoger C., Brockmann K., Auber B. Am. J. Med. Genet. A 155:2003-2007(2011) [PubMed: 21739600] [Abstract] Cited for: INVOLVEMENT IN MRFRAXE.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U48436 mRNA. Translation: AAC82513.1. L76569 mRNA. Translation: AAA99416.1. X95463 mRNA. Translation: CAA64730.1. AF012624 , AF012603, AF012604, AF012605, AF012606, AF012607, AF012608, AF012609, AF012610, AF012611, AF012612, AF012613, AF012614, AF012615, AF012616, AF012617, AF012618, AF012619, AF012620, AF012621, AF012622, AF012623 Genomic DNA. Translation: AAB71534.1. AJ001550 mRNA. Translation: CAA04822.1. AB102644 mRNA. Translation: BAC81113.1. AB101711 Genomic DNA. Translation: BAC80300.1. AB101712 Genomic DNA. Translation: BAC80301.1. AB101713 Genomic DNA. Translation: BAC80302.1. AB101714 Genomic DNA. Translation: BAC80303.1. AB101715 Genomic DNA. Translation: BAC80304.1. AB101716 Genomic DNA. Translation: BAC80305.1. AB101717 Genomic DNA. Translation: BAC80306.1. AB101718 Genomic DNA. Translation: BAC80307.1. AB101719 Genomic DNA. Translation: BAC80308.1. AB101720 Genomic DNA. Translation: BAC80309.1. AB101721 Genomic DNA. Translation: BAC80310.1. AB101722 Genomic DNA. Translation: BAC80311.1. AB101723 Genomic DNA. Translation: BAC80312.1. AB101724 Genomic DNA. Translation: BAC80313.1. AB101725 Genomic DNA. Translation: BAC80314.1. AB101726 Genomic DNA. Translation: BAC80315.1. AB101727 Genomic DNA. Translation: BAC80316.1. AB101728 Genomic DNA. Translation: BAC80317.1. AB101729 Genomic DNA. Translation: BAC80318.1. AB101730 Genomic DNA. Translation: BAC80319.1. AC002368 Genomic DNA. No translation available. AC005731 Genomic DNA. No translation available. AC006516 Genomic DNA. No translation available. AC015552 Genomic DNA. No translation available. CH471171 Genomic DNA. Translation: EAW61288.1. BC132683 mRNA. Translation: AAI32684.1. BC143740 mRNA. Translation: AAI43741.1. BC143744 mRNA. Translation: AAI43745.1. AF139979, AF139977, AF139978 Genomic DNA. Translation: AAD45878.1.
IPI	IPI00020903. IPI00178914. IPI00221389. IPI00221390. IPI00929187. IPI00954787.
RefSeq	NP_001162593.1. NM_001169122.1. NP_001162594.1. NM_001169123.1. NP_001162595.1. NM_001169124.1. NP_001162596.1. NM_001169125.1. NP_002016.2. NM_002025.3.
UniGene	Hs.496911.
3D structure databases
ProteinModelPortal	P51816.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51816. 4 interactions.
MINT	MINT-2803889.
STRING	P51816.
PTM databases
PhosphoSite	P51816.
Polymorphism databases
DMDM	116241242.
Proteomic databases
PRIDE	P51816.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370458; ENSP00000359487; ENSG00000155966. ENST00000370460; ENSP00000359489; ENSG00000155966.
GeneID	2334.
KEGG	hsa:2334.
NMPDR	fig|9606.3.peg.33508.
UCSC	uc004fco.2. human. uc004fcp.1. human. uc004fcs.1. human.
Organism-specific databases
CTD	2334.
GeneCards	GC0XP147582.
HGNC	HGNC:3776. AFF2.
HPA	HPA003139.
MIM	300806. gene. 309548. phenotype.
neXtProt	NX_P51816.
Orphanet	100973. FRAXE intellectual deficiency.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11443.
GeneTree	ENSGT00530000063217.
HOVERGEN	HBG004189.
InParanoid	P51816.
OMA	DSSHLEM.
OrthoDB	EOG42JNR3.
PhylomeDB	P51816.
Gene expression databases
ArrayExpress	P51816.
Bgee	P51816.
CleanEx	HS_AFF2.
Genevestigator	P51816.
GermOnline	ENSG00000155966. Homo sapiens.
Family and domain databases
InterPro	IPR007797. TF_AF4/FMR2. [Graphical view]
KO	K15194.
PANTHER	PTHR10528. AF-4. 1 hit.
Pfam	PF05110. AF-4. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	9469.
SOURCE	Search...

Entry information

Entry name

AFF2_HUMAN

Accession

Primary (citable) accession number: P51816
Secondary accession number(s): A2RTY4 , B7WNQ1, B7ZLD6, B7ZLD9, O43786, O60215, P78407, Q13521, Q14323, Q7Z2F7, Q7Z400, Q9UNA5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 99 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.