UniProtKB - P51816 (AFF2_HUMAN)
Protein
AF4/FMR2 family member 2
Gene
AFF2
Organism
Homo sapiens (Human)
Status
Functioni
RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.1 Publication
GO - Molecular functioni
- G-quadruplex RNA binding Source: UniProtKB
GO - Biological processi
- brain development Source: ProtInc
- learning or memory Source: Ensembl
- mRNA processing Source: UniProtKB-KW
- negative regulation of gene expression Source: Ensembl
- nuclear speck organization Source: MGI
- regulation of gene expression Source: MGI
- regulation of RNA splicing Source: UniProtKB
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, mRNA splicing |
Enzyme and pathway databases
PathwayCommonsi | P51816 |
Names & Taxonomyi
Protein namesi | Recommended name: AF4/FMR2 family member 2Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000155966.13 |
HGNCi | HGNC:3776, AFF2 |
MIMi | 300806, gene |
neXtProti | NX_P51816 |
Subcellular locationi
Nucleus
- Nucleus speckle 1 Publication
Note: When splicing is inhibited, accumulates in enlarged speckles.
Nucleus
- nuclear speck Source: UniProtKB
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Mental retardation, X-linked, associated with fragile site FRAXE (MRFRAXE)2 Publications
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 CCG(N) 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.
Disease descriptionA 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.
Related information in OMIMKeywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 2334 |
MalaCardsi | AFF2 |
MIMi | 309548, phenotype |
OpenTargetsi | ENSG00000155966 |
Orphaneti | 100973, FRAXE intellectual disability |
PharmGKBi | PA28192 |
Miscellaneous databases
Pharosi | P51816, Tbio |
Polymorphism and mutation databases
BioMutai | AFF2 |
DMDMi | 116241242 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215912 | 1 – 1311 | AF4/FMR2 family member 2Add BLAST | 1311 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 430 | PhosphoserineCombined sources | 1 | |
Modified residuei | 517 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P51816 |
MassIVEi | P51816 |
MaxQBi | P51816 |
PaxDbi | P51816 |
PeptideAtlasi | P51816 |
PRIDEi | P51816 |
ProteomicsDBi | 56419 [P51816-1] 56420 [P51816-2] 56421 [P51816-3] 56422 [P51816-4] 56423 [P51816-5] 56424 [P51816-6] 56425 [P51816-7] |
PTM databases
iPTMneti | P51816 |
PhosphoSitePlusi | P51816 |
Expressioni
Tissue specificityi
Brain (most abundant in hippocampus and amygdala), placenta and lung.
Gene expression databases
Bgeei | ENSG00000155966, Expressed in cortical plate and 130 other tissues |
Genevisiblei | P51816, HS |
Organism-specific databases
HPAi | ENSG00000155966, Tissue enhanced (bone marrow, brain, epididymis, pituitary gland, placenta) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 108620, 3 interactors |
IntActi | P51816, 5 interactors |
STRINGi | 9606.ENSP00000359489 |
Miscellaneous databases
RNActi | P51816, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the AF4 family.Curated
Phylogenomic databases
eggNOGi | ENOG502QUIB, Eukaryota |
GeneTreei | ENSGT00950000182974 |
HOGENOMi | CLU_006484_0_0_1 |
InParanoidi | P51816 |
OMAi | KPEWPRD |
OrthoDBi | 558558at2759 |
PhylomeDBi | P51816 |
TreeFami | TF326216 |
Family and domain databases
InterProi | View protein in InterPro IPR007797, AF4/FMR2 IPR043640, AF4/FMR2_CHD IPR043639, AF4_int |
PANTHERi | PTHR10528, PTHR10528, 1 hit |
Pfami | View protein in Pfam PF18876, AF-4_C, 1 hit PF18875, AF4_int, 1 hit |
s (7)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
Isoform 1 (identifier: P51816-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 195 | D → A in CAA64730 (PubMed:8824884).Curated | 1 | |
Sequence conflicti | 470 | A → V in AAA99416 (PubMed:8673086).Curated | 1 | |
Sequence conflicti | 548 | Q → P in AAC82513 (PubMed:8673085).Curated | 1 | |
Sequence conflicti | 548 | Q → P in AAA99416 (PubMed:8673086).Curated | 1 | |
Sequence conflicti | 548 | Q → P in AAB71534 (PubMed:9299237).Curated | 1 | |
Sequence conflicti | 1043 | T → M in AAI32684 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 1043 | T → M in AAI43741 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 1043 | T → M in AAI43745 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_028217 | 1185 | L → M. Corresponds to variant dbSNP:rs12858959Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043237 | 1 – 32 | MDLFD…REWER → MKFKRRHQAFPSFFKMKVSL PSDPSCVEEILR in isoform 7. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_043238 | 33 – 391 | Missing in isoform 7. 1 PublicationAdd BLAST | 359 | |
Alternative sequenceiVSP_000211 | 57 – 60 | Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 5 Publications | 4 | |
Alternative sequenceiVSP_000212 | 364 – 392 | Missing in isoform 2, isoform 3, isoform 4 and isoform 6. 5 PublicationsAdd BLAST | 29 | |
Alternative sequenceiVSP_000213 | 416 – 421 | Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 4 Publications | 6 | |
Alternative sequenceiVSP_000214 | 466 | N → K in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_000215 | 467 – 1311 | Missing in isoform 4. 1 PublicationAdd BLAST | 845 | |
Alternative sequenceiVSP_000216 | 970 – 971 | Missing in isoform 3. 1 Publication | 2 |
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] CCDS78510.1 [P51816-3] |
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] |
Genome annotation databases
Ensembli | ENST00000286437; ENSP00000286437; ENSG00000155966 [P51816-7] ENST00000342251; ENSP00000345459; ENSG00000155966 [P51816-3] ENST00000370457; ENSP00000359486; ENSG00000155966 [P51816-6] ENST00000370458; ENSP00000359487; ENSG00000155966 [P51816-4] ENST00000370460; ENSP00000359489; ENSG00000155966 [P51816-1] |
GeneIDi | 2334 |
KEGGi | hsa:2334 |
UCSCi | uc004fco.4, human [P51816-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism, Triplet repeat expansionSimilar proteinsi
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] CCDS78510.1 [P51816-3] |
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] |
3D structure databases
SMRi | P51816 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108620, 3 interactors |
IntActi | P51816, 5 interactors |
STRINGi | 9606.ENSP00000359489 |
PTM databases
iPTMneti | P51816 |
PhosphoSitePlusi | P51816 |
Polymorphism and mutation databases
BioMutai | AFF2 |
DMDMi | 116241242 |
Proteomic databases
EPDi | P51816 |
MassIVEi | P51816 |
MaxQBi | P51816 |
PaxDbi | P51816 |
PeptideAtlasi | P51816 |
PRIDEi | P51816 |
ProteomicsDBi | 56419 [P51816-1] 56420 [P51816-2] 56421 [P51816-3] 56422 [P51816-4] 56423 [P51816-5] 56424 [P51816-6] 56425 [P51816-7] |
Protocols and materials databases
Antibodypediai | 529, 148 antibodies |
Genome annotation databases
Ensembli | ENST00000286437; ENSP00000286437; ENSG00000155966 [P51816-7] ENST00000342251; ENSP00000345459; ENSG00000155966 [P51816-3] ENST00000370457; ENSP00000359486; ENSG00000155966 [P51816-6] ENST00000370458; ENSP00000359487; ENSG00000155966 [P51816-4] ENST00000370460; ENSP00000359489; ENSG00000155966 [P51816-1] |
GeneIDi | 2334 |
KEGGi | hsa:2334 |
UCSCi | uc004fco.4, human [P51816-1] |
Organism-specific databases
CTDi | 2334 |
DisGeNETi | 2334 |
EuPathDBi | HostDB:ENSG00000155966.13 |
GeneCardsi | AFF2 |
HGNCi | HGNC:3776, AFF2 |
HPAi | ENSG00000155966, Tissue enhanced (bone marrow, brain, epididymis, pituitary gland, placenta) |
MalaCardsi | AFF2 |
MIMi | 300806, gene 309548, phenotype |
neXtProti | NX_P51816 |
OpenTargetsi | ENSG00000155966 |
Orphaneti | 100973, FRAXE intellectual disability |
PharmGKBi | PA28192 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QUIB, Eukaryota |
GeneTreei | ENSGT00950000182974 |
HOGENOMi | CLU_006484_0_0_1 |
InParanoidi | P51816 |
OMAi | KPEWPRD |
OrthoDBi | 558558at2759 |
PhylomeDBi | P51816 |
TreeFami | TF326216 |
Enzyme and pathway databases
PathwayCommonsi | P51816 |
Miscellaneous databases
BioGRID-ORCSi | 2334, 10 hits in 467 CRISPR screens |
ChiTaRSi | AFF2, human |
GeneWikii | AFF2 |
GenomeRNAii | 2334 |
Pharosi | P51816, Tbio |
PROi | PR:P51816 |
RNActi | P51816, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000155966, Expressed in cortical plate and 130 other tissues |
Genevisiblei | P51816, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007797, AF4/FMR2 IPR043640, AF4/FMR2_CHD IPR043639, AF4_int |
PANTHERi | PTHR10528, PTHR10528, 1 hit |
Pfami | View protein in Pfam PF18876, AF-4_C, 1 hit PF18875, AF4_int, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AFF2_HUMAN | |
Accessioni | P51816Primary (citable) accession number: P51816 Secondary accession number(s): A2RTY4 Q9UNA5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | October 17, 2006 | |
Last modified: | December 2, 2020 | |
This is version 163 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations