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UniProtKB - P51816 (AFF2_HUMAN)

Entry version 168 (23 Feb 2022)
Sequence version 4 (17 Oct 2006)
Previous versions | rss
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Protein

AF4/FMR2 family member 2

Gene

AFF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51816

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P51816

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AFF2
Synonyms:FMR2, OX19
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3776, AFF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300806, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51816

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000155966

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Intellectual developmental disorder, X-linked 109 (XLID109)2 Publications
The disease is caused by variants 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 OMIM

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		2334

MalaCards human disease database

More...MalaCardsi		AFF2
MIMi309548, phenotype

Open Targets

More...OpenTargetsi		ENSG00000155966

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		100973, FRAXE intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28192

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51816, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AFF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241242

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002159121 – 1311AF4/FMR2 family member 2Add BLAST1311

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei430PhosphoserineCombined sources1
Modified residuei517PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P51816

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51816

MaxQB - The MaxQuant DataBase

More...MaxQBi		P51816

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P51816

PeptideAtlas

More...PeptideAtlasi		P51816

PRoteomics IDEntifications database

More...PRIDEi		P51816

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56419 [P51816-1]
56420 [P51816-2]
56421 [P51816-3]
56422 [P51816-4]
56423 [P51816-5]
56424 [P51816-6]
56425 [P51816-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51816

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P51816

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000155966, Expressed in cortical plate and 131 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51816, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000155966, Tissue enhanced (bone marrow, brain, epididymis, placenta)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108620, 3 interactors

Protein interaction database and analysis system

More...IntActi		P51816, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359489

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51816, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P51816

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni94 – 187DisorderedSequence analysisAdd BLAST94
Regioni204 – 229DisorderedSequence analysisAdd BLAST26
Regioni377 – 417DisorderedSequence analysisAdd BLAST41
Regioni457 – 530DisorderedSequence analysisAdd BLAST74
Regioni574 – 726DisorderedSequence analysisAdd BLAST153
Regioni818 – 867DisorderedSequence analysisAdd BLAST50
Regioni881 – 943DisorderedSequence analysisAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi94 – 115Polar residuesSequence analysisAdd BLAST22
Compositional biasi162 – 187Polar residuesSequence analysisAdd BLAST26
Compositional biasi477 – 512Polar residuesSequence analysisAdd BLAST36
Compositional biasi587 – 613Basic and acidic residuesSequence analysisAdd BLAST27
Compositional biasi626 – 640Basic and acidic residuesSequence analysisAdd BLAST15
Compositional biasi641 – 656Polar residuesSequence analysisAdd BLAST16
Compositional biasi657 – 713Basic and acidic residuesSequence analysisAdd BLAST57
Compositional biasi852 – 867Basic and acidic residuesSequence analysisAdd BLAST16
Compositional biasi896 – 913Basic and acidic residuesSequence analysisAdd BLAST18

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the AF4 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QUIB, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182974

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006484_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51816

Identification of Orthologs from Complete Genome Data

More...OMAi		HNADFYM

Database of Orthologous Groups

More...OrthoDBi		558558at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51816

TreeFam database of animal gene trees

More...TreeFami		TF326216

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007797, AF4/FMR2
IPR043640, AF4/FMR2_CHD
IPR043639, AF4_int

The PANTHER Classification System

More...PANTHERi		PTHR10528, PTHR10528, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF18876, AF-4_C, 1 hit
PF18875, AF4_int, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 7 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P51816-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

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.

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti195D → A in CAA64730 (PubMed:8824884).Curated1
Sequence conflicti470A → V in AAA99416 (PubMed:8673086).Curated1
Sequence conflicti548Q → P in AAC82513 (PubMed:8673085).Curated1
Sequence conflicti548Q → P in AAA99416 (PubMed:8673086).Curated1
Sequence conflicti548Q → P in AAB71534 (PubMed:9299237).Curated1
Sequence conflicti1043T → M in AAI32684 (PubMed:15489334).Curated1
Sequence conflicti1043T → M in AAI43741 (PubMed:15489334).Curated1
Sequence conflicti1043T → M in AAI43745 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0282171185L → M. Corresponds to variant dbSNP:rs12858959Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0432371 – 32MDLFD…REWER → MKFKRRHQAFPSFFKMKVSL PSDPSCVEEILR in isoform 7. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_04323833 – 391Missing in isoform 7. 1 PublicationAdd BLAST359
Alternative sequenceiVSP_00021157 – 60Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 5 Publications4
Alternative sequenceiVSP_000212364 – 392Missing in isoform 2, isoform 3, isoform 4 and isoform 6. 5 PublicationsAdd BLAST29
Alternative sequenceiVSP_000213416 – 421Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 4 Publications6
Alternative sequenceiVSP_000214466N → K in isoform 4. 1 Publication1
Alternative sequenceiVSP_000215467 – 1311Missing in isoform 4. 1 PublicationAdd BLAST845
Alternative sequenceiVSP_000216970 – 971Missing in isoform 3. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U48436 mRNA Translation: AAC82513.1
L76569 mRNA Translation: AAA99416.1
X95463 mRNA Translation: CAA64730.1
AF012624 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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14684.1 [P51816-1]
CCDS55521.1 [P51816-7]
CCDS76040.1 [P51816-6]
CCDS78510.1 [P51816-3]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000286437; ENSP00000286437; ENSG00000155966 [P51816-7]
ENST00000342251; ENSP00000345459; ENSG00000155966 [P51816-3]
ENST00000370457; ENSP00000359486; ENSG00000155966 [P51816-6]
ENST00000370458; ENSP00000359487; ENSG00000155966 [P51816-4]
ENST00000370460; ENSP00000359489; ENSG00000155966

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2334

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2334

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000370460.7; ENSP00000359489.2; NM_002025.4; NP_002016.2

UCSC genome browser

More...UCSCi		uc004fco.4, human [P51816-1]

Keywords - Coding sequence diversityi

Alternative splicing, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 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]
CCDS78510.1 [P51816-3]
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]

3D structure databases

SMRiP51816
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108620, 3 interactors
IntActiP51816, 5 interactors
STRINGi9606.ENSP00000359489

PTM databases

iPTMnetiP51816
PhosphoSitePlusiP51816

Genetic variation databases

BioMutaiAFF2
DMDMi116241242

Proteomic databases

EPDiP51816
MassIVEiP51816
MaxQBiP51816
PaxDbiP51816
PeptideAtlasiP51816
PRIDEiP51816
ProteomicsDBi56419 [P51816-1]
56420 [P51816-2]
56421 [P51816-3]
56422 [P51816-4]
56423 [P51816-5]
56424 [P51816-6]
56425 [P51816-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		529, 160 antibodies from 22 providers

The DNASU plasmid repository

More...DNASUi		2334

Genome annotation databases

EnsembliENST00000286437; ENSP00000286437; ENSG00000155966 [P51816-7]
ENST00000342251; ENSP00000345459; ENSG00000155966 [P51816-3]
ENST00000370457; ENSP00000359486; ENSG00000155966 [P51816-6]
ENST00000370458; ENSP00000359487; ENSG00000155966 [P51816-4]
ENST00000370460; ENSP00000359489; ENSG00000155966
GeneIDi2334
KEGGihsa:2334
MANE-SelectiENST00000370460.7; ENSP00000359489.2; NM_002025.4; NP_002016.2
UCSCiuc004fco.4, human [P51816-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2334
DisGeNETi2334

GeneCards: human genes, protein and diseases

More...GeneCardsi		AFF2
HGNCiHGNC:3776, AFF2
HPAiENSG00000155966, Tissue enhanced (bone marrow, brain, epididymis, placenta)
MalaCardsiAFF2
MIMi300806, gene
309548, phenotype
neXtProtiNX_P51816
OpenTargetsiENSG00000155966
Orphaneti100973, FRAXE intellectual disability
PharmGKBiPA28192
VEuPathDBiHostDB:ENSG00000155966

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QUIB, Eukaryota
GeneTreeiENSGT00950000182974
HOGENOMiCLU_006484_0_0_1
InParanoidiP51816
OMAiHNADFYM
OrthoDBi558558at2759
PhylomeDBiP51816
TreeFamiTF326216

Enzyme and pathway databases

PathwayCommonsiP51816
SignaLinkiP51816

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2334, 11 hits in 659 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		AFF2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AFF2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2334
PharosiP51816, Tbio

Protein Ontology

More...PROi		PR:P51816
RNActiP51816, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000155966, Expressed in cortical plate and 131 other tissues
GenevisibleiP51816, HS

Family and domain databases

InterProiView protein in InterPro
IPR007797, AF4/FMR2
IPR043640, AF4/FMR2_CHD
IPR043639, AF4_int
PANTHERiPTHR10528, PTHR10528, 1 hit
PfamiView protein in Pfam
PF18876, AF-4_C, 1 hit
PF18875, AF4_int, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAFF2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51816
Secondary accession number(s): A2RTY4
, B4DXD5, B7WNQ1, B7ZLD6, B7ZLD9, O43786, O60215, P78407, Q13521, Q14323, Q7Z2F7, Q7Z400, Q9UNA5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 17, 2006
Last modified: February 23, 2022
This is version 168 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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