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P51816

- AFF2_HUMAN

UniProt

P51816 - AFF2_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP51816.
CleanExiHS_AFF2.
ExpressionAtlasiP51816. baseline and differential.
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.
GeneTreeiENSGT00530000063217.
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

        10         20         30         40         50
MDLFDFFRDW DLEQQCHYEQ DRSALKKREW ERRNQEVQQE DDLFSSGFDL
60 70 80 90 100
FGEPYKVAEY TNKGDALANR VQNTLGNYDE MKNLLTNHSN QNHLVGIPKN
110 120 130 140 150
SVPQNPNNKN EPSFFPEQKN RIIPPHQDNT HPSAPMPPPS VVILNSTLIH
160 170 180 190 200
SNRKSKPEWS RDSHNPSTVL ASQASGQPNK MQTLTQDQSQ AKLEDFFVYP
210 220 230 240 250
AEQPQIGEVE ESNPSAKEDS NPNSSGEDAF KEIFQSNSPE ESEFAVQAPG
260 270 280 290 300
SPLVASSLLA PSSGLSVQNF PPGLYCKTSM GQQKPTAYVR PMDGQDQAPD
310 320 330 340 350
ISPTLKPSIE FENSFGNLSF GTLLDGKPSA ASSKTKLPKF TILQTSEVSL
360 370 380 390 400
PSDPSCVEEI LREMTHSWPT PLTSMHTAGH SEQSTFSIPG QESQHLTPGF
410 420 430 440 450
TLQKWNDPTT RASTKSVSFK SMLEDDLKLS SDEDDLEPVK TLTTQCTATE
460 470 480 490 500
LYQAVEKAKP RNNPVNPPLA TPQPPPAVQA SGGSGSSSES ESSSESDSDT
510 520 530 540 550
ESSTTDSESN EAPRVATPEP EPPSTNKWQL DKWLNKVTSQ NKSFICGQNE
560 570 580 590 600
TPMETISLPP PIIQPMEVQM KVKTNASQVP AEPKERPLLS LIREKARPRP
610 620 630 640 650
TQKIPETKAL KHKLSTTSET VSQRTIGKKQ PKKVEKNTST DEFTWPKPNI
660 670 680 690 700
TSSTPKEKES VELHDPPRGR NKATAHKPAP RKEPRPNIPL APEKKKYRGP
710 720 730 740 750
GKIVPKSREF IETDSSTSDS NTDQEETLQI KVLPPCIISG GNTAKSKEIC
760 770 780 790 800
GASLTLSTLM SSSGSNNNLS ISNEEPTFSP IPVMQTEILS PLRDHENLKN
810 820 830 840 850
LWVKIDLDLL SRVPGHSSLH AAPAKPDHKE TATKPKRQTA VTAVEKPAPK
860 870 880 890 900
GKRKHKPIEV AEKIPEKKQR LEEATTICLL PPCISPAPPH KPPNTRENNS
910 920 930 940 950
SRRANRRKEE KLFPPPLSPL PEDPPRRRNV SGNNGPFGQD KNIAMTGQIT
960 970 980 990 1000
STKPKRTEGK FCATFKGISV NEGDTPKKAS SATITVTNTA IATATVTATA
1010 1020 1030 1040 1050
IVTTTVTATA TATATTTTTT TTISTITSTI TTGLMDSSHL EMTSWAALPL
1060 1070 1080 1090 1100
LSSSSTNVRR PKLTFDDSVH NADYYMQEAK KLKHKADALF EKFGKAVNYA
1110 1120 1130 1140 1150
DAALSFTECG NAMERDPLEA KSPYTMYSET VELLRYAMRL KNFASPLASD
1160 1170 1180 1190 1200
GDKKLAVLCY RCLSLLYLRM FKLKKDHAMK YSRSLMEYFK QNASKVAQIP
1210 1220 1230 1240 1250
SPWVSNGKNT PSPVSLNNVS PINAMGNCNN GPVTIPQRIH HMAASHVNIT
1260 1270 1280 1290 1300
SNVLRGYEHW DMADKLTREN KEFFGDLDTL MGPLTQHSSM TNLVRYVRQG
1310
LCWLRIDAHL L
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:
EMBLi
GenBanki
DDBJi
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]
CCDS55521.1. [P51816-7]
CCDS76040.1. [P51816-6]
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. [P51816-7]
NP_002016.2. NM_002025.3. [P51816-1]
UniGeneiHs.496911.

Genome annotation databases

EnsembliENST00000286437; ENSP00000286437; ENSG00000155966. [P51816-7]
ENST00000370457; ENSP00000359486; ENSG00000155966. [P51816-6]
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:
EMBLi
GenBanki
DDBJi
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 ]
CCDS55521.1. [P51816-7 ]
CCDS76040.1. [P51816-6 ]
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. [P51816-7 ]
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 . [P51816-6 ]
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.
GeneTreei ENSGT00530000063217.
HOGENOMi HOG000246991.
HOVERGENi HBG004189.
InParanoidi P51816.
KOi K15194.
OMAi DEFTWPK.
PhylomeDBi P51816.
TreeFami TF326216.

Miscellaneous databases

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

Gene expression databases

Bgeei P51816.
CleanExi HS_AFF2.
ExpressionAtlasi P51816. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 126 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