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P51816 (AFF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1311 AA.
Sequence statusComplete.
Protein existenceEvidence 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.12

Subcellular location

Nucleus speckle. Note: When splicing is inhibited, accumulates in enlarged speckles. Ref.12

Tissue specificity

Brain (most abundant in hippocampus and amygdala), placenta and lung.

Involvement in disease

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 adaptive behavior and manifested during the developmental period.
Note: The disease is caused by mutations 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 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.12 Ref.14

Sequence similarities

Belongs to the AF4 family.

Alternative products

This entry describes 7 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.
Isoform 7 (identifier: P51816-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MDLFDFFRDWDLEQQCH → MKFKRRHQAPSFFFKMK
     18-347: Missing.
     364-392: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13111311AF4/FMR2 family member 2
PRO_0000215912

Amino acid modifications

Modified residue4301Phosphoserine Ref.13
Modified residue4311Phosphoserine Ref.13
Modified residue5171Phosphothreonine Ref.13

Natural variations

Alternative sequence1 – 1717MDLFD…EQQCH → MKFKRRHQAPSFFFKMK in isoform 7.
VSP_043237
Alternative sequence18 – 347330Missing in isoform 7.
VSP_043238
Alternative sequence57 – 604Missing in isoform 2, isoform 3, isoform 4 and isoform 5.
VSP_000211
Alternative sequence364 – 39229Missing in isoform 2, isoform 3, isoform 4, isoform 6 and isoform 7.
VSP_000212
Alternative sequence416 – 4216Missing in isoform 2, isoform 4, isoform 5 and isoform 6.
VSP_000213
Alternative sequence4661N → K in isoform 4.
VSP_000214
Alternative sequence467 – 1311845Missing in isoform 4.
VSP_000215
Alternative sequence970 – 9712Missing in isoform 3.
VSP_000216
Natural variant11851L → M.
Corresponds to variant rs12858959 [ dbSNP | Ensembl ].
VAR_028217

Experimental info

Sequence conflict1951D → A in CAA64730. Ref.3
Sequence conflict4701A → V in AAA99416. Ref.2
Sequence conflict5481Q → P in AAC82513. Ref.1
Sequence conflict5481Q → P in AAA99416. Ref.2
Sequence conflict5481Q → P in AAB71534. Ref.4
Sequence conflict10431T → M in AAI32684. Ref.10
Sequence conflict10431T → M in AAI43741. Ref.10
Sequence conflict10431T → M in AAI43745. Ref.10

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 4.
Checksum: B5310BC074F893CB

FASTA1,311144,771
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 15EBFC9FEF5E06B8
Show »

FASTA1,272140,507
Isoform 3 [UniParc].

Checksum: 09C53FF308FA368F
Show »

FASTA1,276140,930
Isoform 4 [UniParc].

Checksum: 0933BC2B037D813E
Show »

FASTA42747,654
Isoform 5 [UniParc].

Checksum: 2AC19B95544C56DC
Show »

FASTA1,301143,673
Isoform 6 [UniParc].

Checksum: 41CF55C63266C471
Show »

FASTA1,276140,970
Isoform 7 [UniParc].

Checksum: 1B847E560B486A01
Show »

FASTA952105,116

References

« Hide 'large scale' references
[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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 526-896.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
Tissue: Testis.
[8]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]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. expand/collapse author list , 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].
[10]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 5 AND 6).
Tissue: Cerebellum.
[11]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).
[12]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN MRFRAXE.
[13]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-430; SER-431 AND THR-517, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"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] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MRFRAXE.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U48436 mRNA. Translation: AAC82513.1.
L76569 mRNA. Translation: AAA99416.1.
X95463 mRNA. Translation: CAA64730.1.
AF012624 expand/collapse EMBL AC list , 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.
AK301927 mRNA. Translation: BAG63347.1.
AC002368 Genomic DNA. No translation available.
AC005731 Genomic DNA. No translation available.
AC006516 Genomic DNA. No translation available.
AC015552 Genomic DNA. No translation available.
AC231841 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.
AH008014 Genomic DNA. Translation: AAD45878.1.
RefSeqNP_001162593.1. NM_001169122.1.
NP_001162594.1. NM_001169123.1.
NP_001162595.1. NM_001169124.1.
NP_001162596.1. NM_001169125.1.
NP_001164099.1. NM_001170628.1.
NP_002016.2. NM_002025.3.
UniGeneHs.496911.

3D structure databases

ProteinModelPortalP51816.
SMRP51816. Positions 20-85.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP51816. 5 interactions.

PTM databases

PhosphoSiteP51816.

Polymorphism databases

DMDM116241242.

Proteomic databases

PaxDbP51816.
PRIDEP51816.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286437; ENSP00000286437; ENSG00000155966.
ENST00000370457; ENSP00000359486; ENSG00000155966. [P51816-3]
ENST00000370458; ENSP00000359487; ENSG00000155966. [P51816-4]
ENST00000370460; ENSP00000359489; ENSG00000155966. [P51816-1]
ENST00000594323; ENSP00000470911; ENSG00000269754.
ENST00000595230; ENSP00000472279; ENSG00000269754. [P51816-1]
ENST00000600198; ENSP00000469697; ENSG00000269754. [P51816-3]
ENST00000600276; ENSP00000472480; ENSG00000269754. [P51816-4]
GeneID2334.
KEGGhsa:2334.
UCSCuc004fco.3. human. [P51816-4]
uc004fcp.3. human. [P51816-1]
uc004fcq.3. human. [P51816-5]
uc004fcr.3. human. [P51816-2]
uc004fcs.3. human. [P51816-3]
uc011mxb.2. human. [P51816-6]

Organism-specific databases

CTD2334.
GeneCardsGC0XP147582.
HGNCHGNC:3776. AFF2.
HPAHPA003139.
MIM300806. gene.
309548. phenotype.
neXtProtNX_P51816.
Orphanet100973. FRAXE intellectual deficit.
PharmGKBPA28192.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69292.
HOGENOMHOG000246991.
HOVERGENHBG004189.
InParanoidP51816.
KOK15194.
OMADEFTWPK.
PhylomeDBP51816.
TreeFamTF326216.

Gene expression databases

ArrayExpressP51816.
BgeeP51816.
CleanExHS_AFF2.
GenevestigatorP51816.

Family and domain databases

InterProIPR007797. TF_AF4/FMR2.
[Graphical view]
PANTHERPTHR10528. PTHR10528. 1 hit.
PfamPF05110. AF-4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiAFF2.
GenomeRNAi2334.
NextBio9469.
PROP51816.
SOURCESearch...

Entry information

Entry nameAFF2_HUMAN
AccessionPrimary (citable) accession number: P51816
Secondary accession number(s): A2RTY4 expand/collapse secondary AC list , B4DXD5, 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: March 19, 2014
This is version 120 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM