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Protein

Putative Polycomb group protein ASXL2

Gene

ASXL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1397 – 1434PHD-type; atypicalAdd BLAST38

GO - Molecular functioni

  • DNA binding Source: InterPro
  • metal ion binding Source: UniProtKB-KW
  • peroxisome proliferator activated receptor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-5689603. UCH proteinases.

Names & Taxonomyi

Protein namesi
Recommended name:
Putative Polycomb group protein ASXL2
Alternative name(s):
Additional sex combs-like protein 2
Gene namesi
Name:ASXL2
Synonyms:ASXH2, KIAA1685
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:23805. ASXL2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving ASXL2 is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with KAT6A generates a KAT6A-ASXL2 fusion protein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei20 – 21Breakpoint for translocation to form KAT6A-ASXL2 protein2

Organism-specific databases

DisGeNETi55252.
OpenTargetsiENSG00000143970.
PharmGKBiPA134884863.

Polymorphism and mutation databases

BioMutaiASXL2.
DMDMi74712929.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003138261 – 1435Putative Polycomb group protein ASXL2Add BLAST1435

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei146PhosphoserineCombined sources1
Modified residuei524PhosphoserineCombined sources1
Modified residuei562PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei637PhosphoserineCombined sources1
Modified residuei641Asymmetric dimethylarginineBy similarity1
Modified residuei648PhosphoserineCombined sources1
Modified residuei1319PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ76L83.
MaxQBiQ76L83.
PaxDbiQ76L83.
PeptideAtlasiQ76L83.
PRIDEiQ76L83.

PTM databases

iPTMnetiQ76L83.
PhosphoSitePlusiQ76L83.

Expressioni

Gene expression databases

BgeeiENSG00000143970.
CleanExiHS_ASXL2.
ExpressionAtlasiQ76L83. baseline and differential.
GenevisibleiQ76L83. HS.

Organism-specific databases

HPAiHPA034646.
HPA058040.

Interactioni

Subunit structurei

Interacts with PPARA and PPARG.1 Publication

GO - Molecular functioni

  • peroxisome proliferator activated receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120543. 18 interactors.
IntActiQ76L83. 12 interactors.
MINTiMINT-1198991.
STRINGi9606.ENSP00000391447.

Structurei

3D structure databases

ProteinModelPortaliQ76L83.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi174 – 178Nuclear localization signalSequence analysis5
Motifi303 – 307LXXLL motif 15
Motifi887 – 891LXXLL motif 25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi95 – 235Ser-richAdd BLAST141
Compositional biasi303 – 307Poly-Leu5
Compositional biasi654 – 684Ala-richAdd BLAST31
Compositional biasi687 – 739Gly-richAdd BLAST53
Compositional biasi1173 – 1176Poly-Ser4

Domaini

Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, which may be required for an association with nuclear receptors.By similarity

Sequence similaritiesi

Belongs to the Asx family.Curated
Contains 1 PHD-type zinc finger.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1397 – 1434PHD-type; atypicalAdd BLAST38

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IIF3. Eukaryota.
ENOG4111F3G. LUCA.
GeneTreeiENSGT00520000055578.
HOVERGENiHBG106941.
InParanoidiQ76L83.
KOiK11471.
OMAiQGKDVPM.
OrthoDBiEOG091G0C66.
PhylomeDBiQ76L83.
TreeFamiTF328464.

Family and domain databases

InterProiIPR026905. ASX-like_PHD.
IPR024811. ASX/ASX-like.
IPR028020. ASXH.
IPR024817. ASXL2.
IPR007759. HB1/Asxl_HTH.
[Graphical view]
PANTHERiPTHR13578. PTHR13578. 2 hits.
PTHR13578:SF11. PTHR13578:SF11. 2 hits.
PfamiPF13919. ASXH. 1 hit.
PF05066. HARE-HTH. 1 hit.
PF13922. PHD_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q76L83-1) [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
MREKGRRKKG RTWAEAAKTV LEKYPNTPMS HKEILQVIQR EGLKEIRSGT
60 70 80 90 100
SPLACLNAML HTNSRGEEGI FYKVPGRMGV YTLKKDVPDG VKELSEGSEE
110 120 130 140 150
SSDGQSDSQS SENSSSSSDG GSNKEGKKSR WKRKVSSSSP QSGCPSPTIP
160 170 180 190 200
AGKVISPSQK HSKKALKQAL KQQQQKKQQQ QCRPSISISS NQHLSLKTVK
210 220 230 240 250
AASDSVPAKP ATWEGKQSDG QTGSPQNSNS SFSSSVKVEN TLLGLGKKSF
260 270 280 290 300
QRSERLHTRQ MKRTKCADID VETPDSILVN TNLRALINKH TFSVLPGDCQ
310 320 330 340 350
QRLLLLLPEV DRQVGPDGLM KLNGSALNNE FFTSAAQGWK ERLSEGEFTP
360 370 380 390 400
EMQVRIRQEI EKEKKVEPWK EQFFESYYGQ SSGLSLEDSK KLTASPSDPK
410 420 430 440 450
VKKTPAEQPK SMPVSEASLI RIVPVVSQSE CKEEALQMSS PGRKEECESQ
460 470 480 490 500
GEVQPNFSTS SEPLLSSALN THELSSILPI KCPKDEDLLE QKPVTSAEQE
510 520 530 540 550
SEKNHLTTAS NYNKSESQES LVTSPSKPKS PGVEKPIVKP TAGAGPQETN
560 570 580 590 600
MKEPLATLVD QSPESLKRKS SLTQEEAPVS WEKRPRVTEN RQHQQPFQVS
610 620 630 640 650
PQPFLNRGDR IQVRKVPPLK IPVSRISPMP FHPSQVSPRA RFPVSITSPN
660 670 680 690 700
RTGARTLADI KAKAQLVKAQ RAAAAAAAAA AAAASVGGTI PGPGPGGGQG
710 720 730 740 750
PGEGGEGQTA RGGSPGSDRV SETGKGPTLE LAGTGSRGGT RELLPCGPET
760 770 780 790 800
QPQSETKTTP SQAQPHSVSG AQLQQTPPVP PTPAVSGACT SVPSPAHIEK
810 820 830 840 850
LDNEKLNPTR ATATVASVSH PQGPSSCRQE KAPSPTGPAL ISGASPVHCA
860 870 880 890 900
ADGTVELKAG PSKNIPNPSA SSKTDASVPV AVTPSPLTSL LTTATLEKLP
910 920 930 940 950
VPQVSATTAP AGSAPPSSTL PAASSLKTPG TSLNMNGPTL RPTSSIPANN
960 970 980 990 1000
PLVTQLLQGK DVPMEQILPK PLTKVEMKTV PLTAKEERGM GALIATNTTE
1010 1020 1030 1040 1050
NSTREEVNER QSHPATQQQL GKTLQSKQLP QVPRPLQLFS AKELRDSSID
1060 1070 1080 1090 1100
THQYHEGLSK ATQDQILQTL IQRVRRQNLL SVVPPSQFNF AHSGFQLEDI
1110 1120 1130 1140 1150
STSQRFMLGF AGRRTSKPAM AGHYLLNIST YGRGSESFRR THSVNPEDRF
1160 1170 1180 1190 1200
CLSSPTEALK MGYTDCKNAT GESSSSKEDD TDEESTGDEQ ESVTVKEEPQ
1210 1220 1230 1240 1250
VSQSAGKGDT SSGPHSRETL STSDCLASKN VKAEIPLNEQ TTLSKENYLF
1260 1270 1280 1290 1300
TRGQTFDEKT LARDLIQAAQ KQMAHAVRGK AIRSSPELFS STVLPLPADS
1310 1320 1330 1340 1350
PTHQPLLLPP LQTPKLYGSP TQIGPSYRGM INVSTSSDMD HNSAVPGSQV
1360 1370 1380 1390 1400
SSNVGDVMSF SVTVTTIPAS QAMNPSSHGQ TIPVQAFSEE NSIEGTPSKC
1410 1420 1430
YCRLKAMIMC KGCGAFCHDD CIGPSKLCVS CLVVR
Length:1,435
Mass (Da):153,820
Last modified:July 5, 2004 - v1
Checksum:iA01026E3C2D1035D
GO
Isoform 2 (identifier: Q76L83-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-260: Missing.
     838-1094: Missing.

Note: No experimental confirmation available.
Show »
Length:918
Mass (Da):98,359
Checksum:iB923F0E5C7B5FEC6
GO

Sequence cautioni

The sequence BAA91889 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB21776 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD00088 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti473E → G in CAI45930 (Ref. 3) Curated1
Sequence conflicti651R → K in CAI45930 (Ref. 3) Curated1
Sequence conflicti1334S → P in BAA91889 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037773731L → P.Corresponds to variant rs13385963dbSNPEnsembl.1
Natural variantiVAR_037774796A → V.1 PublicationCorresponds to variant rs17854251dbSNPEnsembl.1
Natural variantiVAR_0377751210T → P.Corresponds to variant rs12991178dbSNPEnsembl.1
Natural variantiVAR_0377761242T → P.Corresponds to variant rs12990978dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0301631 – 260Missing in isoform 2. 1 PublicationAdd BLAST260
Alternative sequenceiVSP_030164838 – 1094Missing in isoform 2. 1 PublicationAdd BLAST257

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084279 mRNA. Translation: BAD00086.1.
AB084281 mRNA. Translation: BAD00088.1. Different initiation.
AB051472 mRNA. Translation: BAB21776.2. Different initiation.
CR933613 mRNA. Translation: CAI45930.1.
AC010150 Genomic DNA. Translation: AAY14841.1.
BC042999 mRNA. Translation: AAH42999.1.
AK001760 mRNA. Translation: BAA91889.1. Different initiation.
RefSeqiNP_060733.4. NM_018263.4. [Q76L83-1]
UniGeneiHs.119815.

Genome annotation databases

EnsembliENST00000404843; ENSP00000383920; ENSG00000143970. [Q76L83-2]
ENST00000435504; ENSP00000391447; ENSG00000143970. [Q76L83-1]
GeneIDi55252.
KEGGihsa:55252.
UCSCiuc002rgt.2. human. [Q76L83-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084279 mRNA. Translation: BAD00086.1.
AB084281 mRNA. Translation: BAD00088.1. Different initiation.
AB051472 mRNA. Translation: BAB21776.2. Different initiation.
CR933613 mRNA. Translation: CAI45930.1.
AC010150 Genomic DNA. Translation: AAY14841.1.
BC042999 mRNA. Translation: AAH42999.1.
AK001760 mRNA. Translation: BAA91889.1. Different initiation.
RefSeqiNP_060733.4. NM_018263.4. [Q76L83-1]
UniGeneiHs.119815.

3D structure databases

ProteinModelPortaliQ76L83.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120543. 18 interactors.
IntActiQ76L83. 12 interactors.
MINTiMINT-1198991.
STRINGi9606.ENSP00000391447.

PTM databases

iPTMnetiQ76L83.
PhosphoSitePlusiQ76L83.

Polymorphism and mutation databases

BioMutaiASXL2.
DMDMi74712929.

Proteomic databases

EPDiQ76L83.
MaxQBiQ76L83.
PaxDbiQ76L83.
PeptideAtlasiQ76L83.
PRIDEiQ76L83.

Protocols and materials databases

DNASUi55252.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000404843; ENSP00000383920; ENSG00000143970. [Q76L83-2]
ENST00000435504; ENSP00000391447; ENSG00000143970. [Q76L83-1]
GeneIDi55252.
KEGGihsa:55252.
UCSCiuc002rgt.2. human. [Q76L83-1]

Organism-specific databases

CTDi55252.
DisGeNETi55252.
GeneCardsiASXL2.
HGNCiHGNC:23805. ASXL2.
HPAiHPA034646.
HPA058040.
MIMi612991. gene.
neXtProtiNX_Q76L83.
OpenTargetsiENSG00000143970.
PharmGKBiPA134884863.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF3. Eukaryota.
ENOG4111F3G. LUCA.
GeneTreeiENSGT00520000055578.
HOVERGENiHBG106941.
InParanoidiQ76L83.
KOiK11471.
OMAiQGKDVPM.
OrthoDBiEOG091G0C66.
PhylomeDBiQ76L83.
TreeFamiTF328464.

Enzyme and pathway databases

ReactomeiR-HSA-5689603. UCH proteinases.

Miscellaneous databases

ChiTaRSiASXL2. human.
GenomeRNAii55252.
PROiQ76L83.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143970.
CleanExiHS_ASXL2.
ExpressionAtlasiQ76L83. baseline and differential.
GenevisibleiQ76L83. HS.

Family and domain databases

InterProiIPR026905. ASX-like_PHD.
IPR024811. ASX/ASX-like.
IPR028020. ASXH.
IPR024817. ASXL2.
IPR007759. HB1/Asxl_HTH.
[Graphical view]
PANTHERiPTHR13578. PTHR13578. 2 hits.
PTHR13578:SF11. PTHR13578:SF11. 2 hits.
PfamiPF13919. ASXH. 1 hit.
PF05066. HARE-HTH. 1 hit.
PF13922. PHD_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASXL2_HUMAN
AccessioniPrimary (citable) accession number: Q76L83
Secondary accession number(s): Q53TC9
, Q5H9U4, Q76L81, Q86XM1, Q9C0H8, Q9NV67
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 103 of the entry and version 1 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.