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P51816

- AFF2_HUMAN

UniProt

P51816 - AFF2_HUMAN

Protein

AF4/FMR2 family member 2

Gene

AFF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 4 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.1 Publication

    GO - Molecular functioni

    1. G-quadruplex RNA binding Source: UniProtKB

    GO - Biological processi

    1. brain development Source: ProtInc
    2. learning or memory Source: Ensembl
    3. mRNA processing Source: UniProtKB-KW
    4. regulation of RNA splicing Source: UniProtKB
    5. RNA splicing Source: UniProtKB-KW

    Keywords - Biological processi

    mRNA processing, mRNA splicing

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    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 namesi
    Name:AFF2
    Synonyms:FMR2, OX19
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:3776. AFF2.

    Subcellular locationi

    Nucleus speckle 1 Publication
    Note: When splicing is inhibited, accumulates in enlarged speckles.

    GO - Cellular componenti

    1. nuclear speck Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    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.

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    MIMi309548. phenotype.
    Orphaneti100973. FRAXE intellectual disability.
    PharmGKBiPA28192.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13111311AF4/FMR2 family member 2PRO_0000215912Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei430 – 4301Phosphoserine1 Publication
    Modified residuei431 – 4311Phosphoserine1 Publication
    Modified residuei517 – 5171Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP51816.
    PaxDbiP51816.
    PRIDEiP51816.

    PTM databases

    PhosphoSiteiP51816.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiP51816.
    BgeeiP51816.
    CleanExiHS_AFF2.
    GenevestigatoriP51816.

    Organism-specific databases

    HPAiHPA003139.

    Interactioni

    Protein-protein interaction databases

    IntActiP51816. 5 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP51816.
    SMRiP51816. Positions 20-85.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AF4 family.Curated

    Phylogenomic databases

    eggNOGiNOG69292.
    HOGENOMiHOG000246991.
    HOVERGENiHBG004189.
    InParanoidiP51816.
    KOiK15194.
    OMAiDEFTWPK.
    PhylomeDBiP51816.
    TreeFamiTF326216.

    Family and domain databases

    InterProiIPR007797. TF_AF4/FMR2.
    [Graphical view]
    PANTHERiPTHR10528. PTHR10528. 1 hit.
    PfamiPF05110. AF-4. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: P51816-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL     50
    FGEPYKVAEY TNKGDALANR VQNTLGNYDE MKNLLTNHSN QNHLVGIPKN 100
    SVPQNPNNKN EPSFFPEQKN RIIPPHQDNT HPSAPMPPPS VVILNSTLIH 150
    SNRKSKPEWS RDSHNPSTVL ASQASGQPNK MQTLTQDQSQ AKLEDFFVYP 200
    AEQPQIGEVE ESNPSAKEDS NPNSSGEDAF KEIFQSNSPE ESEFAVQAPG 250
    SPLVASSLLA PSSGLSVQNF PPGLYCKTSM GQQKPTAYVR PMDGQDQAPD 300
    ISPTLKPSIE FENSFGNLSF GTLLDGKPSA ASSKTKLPKF TILQTSEVSL 350
    PSDPSCVEEI LREMTHSWPT PLTSMHTAGH SEQSTFSIPG QESQHLTPGF 400
    TLQKWNDPTT RASTKSVSFK SMLEDDLKLS SDEDDLEPVK TLTTQCTATE 450
    LYQAVEKAKP RNNPVNPPLA TPQPPPAVQA SGGSGSSSES ESSSESDSDT 500
    ESSTTDSESN EAPRVATPEP EPPSTNKWQL DKWLNKVTSQ NKSFICGQNE 550
    TPMETISLPP PIIQPMEVQM KVKTNASQVP AEPKERPLLS LIREKARPRP 600
    TQKIPETKAL KHKLSTTSET VSQRTIGKKQ PKKVEKNTST DEFTWPKPNI 650
    TSSTPKEKES VELHDPPRGR NKATAHKPAP RKEPRPNIPL APEKKKYRGP 700
    GKIVPKSREF IETDSSTSDS NTDQEETLQI KVLPPCIISG GNTAKSKEIC 750
    GASLTLSTLM SSSGSNNNLS ISNEEPTFSP IPVMQTEILS PLRDHENLKN 800
    LWVKIDLDLL SRVPGHSSLH AAPAKPDHKE TATKPKRQTA VTAVEKPAPK 850
    GKRKHKPIEV AEKIPEKKQR LEEATTICLL PPCISPAPPH KPPNTRENNS 900
    SRRANRRKEE KLFPPPLSPL PEDPPRRRNV SGNNGPFGQD KNIAMTGQIT 950
    STKPKRTEGK FCATFKGISV NEGDTPKKAS SATITVTNTA IATATVTATA 1000
    IVTTTVTATA TATATTTTTT TTISTITSTI TTGLMDSSHL EMTSWAALPL 1050
    LSSSSTNVRR PKLTFDDSVH NADYYMQEAK KLKHKADALF EKFGKAVNYA 1100
    DAALSFTECG NAMERDPLEA KSPYTMYSET VELLRYAMRL KNFASPLASD 1150
    GDKKLAVLCY RCLSLLYLRM FKLKKDHAMK YSRSLMEYFK QNASKVAQIP 1200
    SPWVSNGKNT PSPVSLNNVS PINAMGNCNN GPVTIPQRIH HMAASHVNIT 1250
    SNVLRGYEHW DMADKLTREN KEFFGDLDTL MGPLTQHSSM TNLVRYVRQG 1300
    LCWLRIDAHL L 1311
    Length:1,311
    Mass (Da):144,771
    Last modified:October 17, 2006 - v4
    Checksum:iB5310BC074F893CB
    GO
    Isoform 2 (identifier: P51816-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:1,272
    Mass (Da):140,507
    Checksum:i15EBFC9FEF5E06B8
    GO
    Isoform 3 (identifier: P51816-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:1,276
    Mass (Da):140,930
    Checksum:i09C53FF308FA368F
    GO
    Isoform 4 (identifier: P51816-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:427
    Mass (Da):47,654
    Checksum:i0933BC2B037D813E
    GO
    Isoform 5 (identifier: P51816-5) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:1,301
    Mass (Da):143,673
    Checksum:i2AC19B95544C56DC
    GO
    Isoform 6 (identifier: P51816-6) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:1,276
    Mass (Da):140,970
    Checksum:i41CF55C63266C471
    GO
    Isoform 7 (identifier: P51816-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-32: MDLFDFFRDWDLEQQCHYEQDRSALKKREWER → MKFKRRHQAFPSFFKMKVSLPSDPSCVEEILR
         33-391: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:952
    Mass (Da):105,116
    Checksum:iDD5184D296D75B42
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti195 – 1951D → A in CAA64730. (PubMed:8824884)Curated
    Sequence conflicti470 – 4701A → V in AAA99416. (PubMed:8673086)Curated
    Sequence conflicti548 – 5481Q → P in AAC82513. (PubMed:8673085)Curated
    Sequence conflicti548 – 5481Q → P in AAA99416. (PubMed:8673086)Curated
    Sequence conflicti548 – 5481Q → P in AAB71534. (PubMed:9299237)Curated
    Sequence conflicti1043 – 10431T → M in AAI32684. (PubMed:15489334)Curated
    Sequence conflicti1043 – 10431T → M in AAI43741. (PubMed:15489334)Curated
    Sequence conflicti1043 – 10431T → M in AAI43745. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1185 – 11851L → M.
    Corresponds to variant rs12858959 [ dbSNP | Ensembl ].
    VAR_028217

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3232MDLFD…REWER → MKFKRRHQAFPSFFKMKVSL PSDPSCVEEILR in isoform 7. 1 PublicationVSP_043237Add
    BLAST
    Alternative sequencei33 – 391359Missing in isoform 7. 1 PublicationVSP_043238Add
    BLAST
    Alternative sequencei57 – 604Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 5 PublicationsVSP_000211
    Alternative sequencei364 – 39229Missing in isoform 2, isoform 3, isoform 4 and isoform 6. 5 PublicationsVSP_000212Add
    BLAST
    Alternative sequencei416 – 4216Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 4 PublicationsVSP_000213
    Alternative sequencei466 – 4661N → K in isoform 4. 1 PublicationVSP_000214
    Alternative sequencei467 – 1311845Missing in isoform 4. 1 PublicationVSP_000215Add
    BLAST
    Alternative sequencei970 – 9712Missing in isoform 3. 1 PublicationVSP_000216

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    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.
    CCDSiCCDS14684.1. [P51816-1]
    CCDS55520.1. [P51816-3]
    CCDS55521.1. [P51816-7]
    RefSeqiNP_001162593.1. NM_001169122.1. [P51816-3]
    NP_001162594.1. NM_001169123.1. [P51816-5]
    NP_001162595.1. NM_001169124.1. [P51816-6]
    NP_001162596.1. NM_001169125.1. [P51816-2]
    NP_001164099.1. NM_001170628.1.
    NP_002016.2. NM_002025.3. [P51816-1]
    UniGeneiHs.496911.

    Genome annotation databases

    EnsembliENST00000286437; ENSP00000286437; ENSG00000155966. [P51816-7]
    ENST00000370457; ENSP00000359486; ENSG00000155966. [P51816-3]
    ENST00000370458; ENSP00000359487; ENSG00000155966. [P51816-4]
    ENST00000370460; ENSP00000359489; ENSG00000155966. [P51816-1]
    GeneIDi2334.
    KEGGihsa:2334.
    UCSCiuc004fco.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]

    Polymorphism databases

    DMDMi116241242.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism, Triplet repeat expansion

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    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 .
    CCDSi CCDS14684.1. [P51816-1 ]
    CCDS55520.1. [P51816-3 ]
    CCDS55521.1. [P51816-7 ]
    RefSeqi NP_001162593.1. NM_001169122.1. [P51816-3 ]
    NP_001162594.1. NM_001169123.1. [P51816-5 ]
    NP_001162595.1. NM_001169124.1. [P51816-6 ]
    NP_001162596.1. NM_001169125.1. [P51816-2 ]
    NP_001164099.1. NM_001170628.1.
    NP_002016.2. NM_002025.3. [P51816-1 ]
    UniGenei Hs.496911.

    3D structure databases

    ProteinModelPortali P51816.
    SMRi P51816. Positions 20-85.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P51816. 5 interactions.

    PTM databases

    PhosphoSitei P51816.

    Polymorphism databases

    DMDMi 116241242.

    Proteomic databases

    MaxQBi P51816.
    PaxDbi P51816.
    PRIDEi P51816.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000286437 ; ENSP00000286437 ; ENSG00000155966 . [P51816-7 ]
    ENST00000370457 ; ENSP00000359486 ; ENSG00000155966 . [P51816-3 ]
    ENST00000370458 ; ENSP00000359487 ; ENSG00000155966 . [P51816-4 ]
    ENST00000370460 ; ENSP00000359489 ; ENSG00000155966 . [P51816-1 ]
    GeneIDi 2334.
    KEGGi hsa:2334.
    UCSCi uc004fco.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

    CTDi 2334.
    GeneCardsi GC0XP147582.
    HGNCi HGNC:3776. AFF2.
    HPAi HPA003139.
    MIMi 300806. gene.
    309548. phenotype.
    neXtProti NX_P51816.
    Orphaneti 100973. FRAXE intellectual disability.
    PharmGKBi PA28192.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69292.
    HOGENOMi HOG000246991.
    HOVERGENi HBG004189.
    InParanoidi P51816.
    KOi K15194.
    OMAi DEFTWPK.
    PhylomeDBi P51816.
    TreeFami TF326216.

    Miscellaneous databases

    GeneWikii AFF2.
    GenomeRNAii 2334.
    NextBioi 9469.
    PROi P51816.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51816.
    Bgeei P51816.
    CleanExi HS_AFF2.
    Genevestigatori P51816.

    Family and domain databases

    InterProi IPR007797. TF_AF4/FMR2.
    [Graphical view ]
    PANTHERi PTHR10528. PTHR10528. 1 hit.
    Pfami PF05110. AF-4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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.

    Entry informationi

    Entry nameiAFF2_HUMAN
    AccessioniPrimary (citable) accession number: P51816
    Secondary accession number(s): A2RTY4
    , B4DXD5, B7WNQ1, B7ZLD6, B7ZLD9, O43786, O60215, P78407, Q13521, Q14323, Q7Z2F7, Q7Z400, Q9UNA5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 124 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3