ASXL2 (ASXL transcriptional regulator 2) - Rat Genome Database
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Gene: ASXL2 (ASXL transcriptional regulator 2) Homo sapiens
Analyze
Symbol: ASXL2
Name: ASXL transcriptional regulator 2
RGD ID: 1312315
HGNC Page HGNC
Description: Exhibits peroxisome proliferator activated receptor binding activity. Involved in positive regulation of fat cell differentiation; positive regulation of peroxisome proliferator activated receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Localizes to nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: additional sex combs like 2; additional sex combs like 2, transcriptional regulator; additional sex combs like transcriptional regulator 2; additional sex combs-like protein 2; ASXH2; DKFZp686C1968; FLJ10898; KIAA1685; polycomb group protein ASXH2; putative Polycomb group protein ASXL2; SHAPNS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl225,733,753 - 25,878,487 (-)EnsemblGRCh38hg38GRCh38
GRCh38225,733,753 - 25,878,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37225,956,622 - 26,101,356 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,815,757 - 25,954,816 (-)NCBINCBI36hg18NCBI36
Build 34225,873,909 - 26,013,007NCBI
Celera225,802,588 - 25,941,650 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef225,699,339 - 25,838,712 (-)NCBIHuRef
CHM1_1225,891,914 - 26,030,899 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:11214970   PMID:12477932   PMID:12888926   PMID:14702039   PMID:15231748   PMID:17353931   PMID:17672918   PMID:18187620   PMID:19615732   PMID:19815555   PMID:20360068   PMID:20805357  
PMID:21047783   PMID:21832049   PMID:21873635   PMID:24040135   PMID:24163370   PMID:24321552   PMID:24748658   PMID:24973361   PMID:25065743   PMID:25609649   PMID:25835095   PMID:26051940  
PMID:26100099   PMID:26186194   PMID:26416890   PMID:26496610   PMID:26640146   PMID:27693232   PMID:27705803   PMID:27798625   PMID:28063196   PMID:28090090   PMID:28514442   PMID:28516957  
PMID:29117863   PMID:29284740   PMID:29507755   PMID:29531217   PMID:29785026   PMID:30251205   PMID:30349006   PMID:30804502   PMID:31637484   PMID:32027264   PMID:32296183  


Genomics

Comparative Map Data
ASXL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl225,733,753 - 25,878,487 (-)EnsemblGRCh38hg38GRCh38
GRCh38225,733,753 - 25,878,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37225,956,622 - 26,101,356 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,815,757 - 25,954,816 (-)NCBINCBI36hg18NCBI36
Build 34225,873,909 - 26,013,007NCBI
Celera225,802,588 - 25,941,650 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef225,699,339 - 25,838,712 (-)NCBIHuRef
CHM1_1225,891,914 - 26,030,899 (-)NCBICHM1_1
Asxl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39123,476,857 - 3,560,811 (+)NCBIGRCm39mm39
GRCm39 Ensembl123,476,857 - 3,556,852 (+)Ensembl
GRCm38123,426,857 - 3,510,811 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,426,857 - 3,506,852 (+)EnsemblGRCm38mm10GRCm38
MGSCv37123,426,884 - 3,506,849 (+)NCBIGRCm37mm9NCBIm37
MGSCv36123,426,901 - 3,502,468 (+)NCBImm8
Celera123,353,949 - 3,434,249 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
Asxl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2626,425,017 - 26,514,899 (+)NCBI
Rnor_6.0 Ensembl627,887,797 - 27,915,563 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0627,835,346 - 27,919,285 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0637,644,433 - 37,732,264 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4626,400,855 - 26,482,465 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1626,470,864 - 26,484,531 (+)NCBI
Celera625,902,447 - 25,987,120 (+)NCBICelera
Cytogenetic Map6q14NCBI
Asxl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554697,786,154 - 7,923,500 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554697,786,030 - 7,923,739 (-)NCBIChiLan1.0ChiLan1.0
ASXL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A25,824,278 - 25,973,659 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A25,832,527 - 25,973,659 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A25,730,155 - 25,880,089 (-)NCBIMhudiblu_PPA_v0panPan3
ASXL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1719,895,568 - 20,044,691 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11719,914,026 - 20,065,141 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Asxl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364936,463,771 - 6,602,244 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASXL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3113,044,836 - 113,180,744 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13113,044,788 - 113,184,809 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23119,991,762 - 120,173,786 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASXL2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11481,770,068 - 81,919,200 (+)NCBI
Asxl2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247387,958,610 - 8,100,223 (-)NCBI

Position Markers
RH92772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,091,001 - 26,091,136UniSTSGRCh37
Build 36225,944,505 - 25,944,640RGDNCBI36
Celera225,931,339 - 25,931,474RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,828,400 - 25,828,535UniSTS
GeneMap99-GB4 RH Map290.32UniSTS
RH122598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,011,753 - 26,012,093UniSTSGRCh37
Build 36225,865,257 - 25,865,597RGDNCBI36
Celera225,852,077 - 25,852,417RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,748,823 - 25,749,163UniSTS
TNG Radiation Hybrid Map219094.0UniSTS
G63712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,016,126 - 26,016,317UniSTSGRCh37
Build 36225,869,630 - 25,869,821RGDNCBI36
Celera225,856,450 - 25,856,641RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,753,162 - 25,753,353UniSTS
TNG Radiation Hybrid Map219094.0UniSTS
D2S2091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,014,544 - 26,014,667UniSTSGRCh37
Build 36225,868,048 - 25,868,171RGDNCBI36
Celera225,854,868 - 25,854,991RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,751,615 - 25,751,738UniSTS
A004H29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,962,315 - 25,962,433UniSTSGRCh37
Build 36225,815,819 - 25,815,937RGDNCBI36
Celera225,802,650 - 25,802,768RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,699,401 - 25,699,519UniSTS
GeneMap99-GB4 RH Map290.32UniSTS
RH17952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,962,298 - 25,962,545UniSTSGRCh37
Build 36225,815,802 - 25,816,049RGDNCBI36
Celera225,802,633 - 25,802,880RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,699,384 - 25,699,631UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
D22S1565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371356,388,025 - 56,388,168UniSTSGRCh37
GRCh37226,073,108 - 26,073,251UniSTSGRCh37
Build 36225,926,612 - 25,926,755RGDNCBI36
Celera225,913,439 - 25,913,582RGD
Celera1337,375,198 - 37,375,341UniSTS
Cytogenetic Map2p24.1UniSTS
HuRef1337,102,776 - 37,102,919UniSTS
HuRef225,811,054 - 25,811,197UniSTS
SGC33449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,962,259 - 25,962,408UniSTSGRCh37
Build 36225,815,763 - 25,815,912RGDNCBI36
Celera225,802,594 - 25,802,743RGD
Cytogenetic Map2p24.1UniSTS
HuRef225,699,345 - 25,699,494UniSTS
TNG Radiation Hybrid Map219063.0UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
Whitehead-RH Map2157.7UniSTS
UniSTS:234880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,045,103 - 26,045,365UniSTSGRCh37
Build 36225,898,607 - 25,898,869RGDNCBI36
Celera225,885,435 - 25,885,697RGD
HuRef225,782,165 - 25,782,427UniSTS
ASXL2_4387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,962,067 - 25,962,959UniSTSGRCh37
Build 36225,815,571 - 25,816,463RGDNCBI36
Celera225,802,402 - 25,803,294RGD
HuRef225,699,153 - 25,700,045UniSTS
PTGES3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371257,065,561 - 57,066,552UniSTSGRCh37
GRCh37226,045,493 - 26,045,593UniSTSGRCh37
Celera1256,718,038 - 56,719,029UniSTS
Celera225,885,825 - 25,885,925UniSTS
HuRef225,782,555 - 25,782,655UniSTS
HuRef1254,104,852 - 54,105,843UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR16-1hsa-miR-16-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)18362358
MIR15Ahsa-miR-15a-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)18362358
MIR16-2hsa-miR-16-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)18362358
MIR502hsa-miR-502-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:4939
Count of miRNA genes:1180
Interacting mature miRNAs:1491
Transcripts:ENST00000272341, ENST00000336112, ENST00000404843, ENST00000435504, ENST00000497092
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 275 120 153 48 639 50 483 107 180 150 589 398 12 27 169 3
Low 2161 2818 1571 574 1289 414 3872 2061 3548 267 866 1213 162 1 1177 2619 1 1
Below cutoff 2 52 2 1 23 1 28 6 2 4 2 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000336112   ⟹   ENSP00000337250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,737,692 - 25,878,466 (-)Ensembl
RefSeq Acc Id: ENST00000404843   ⟹   ENSP00000383920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,741,925 - 25,780,309 (-)Ensembl
RefSeq Acc Id: ENST00000435504   ⟹   ENSP00000391447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,733,753 - 25,878,487 (-)Ensembl
RefSeq Acc Id: ENST00000497092   ⟹   ENSP00000500214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,768,762 - 25,830,891 (-)Ensembl
RefSeq Acc Id: ENST00000672666   ⟹   ENSP00000499938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,744,390 - 25,749,927 (-)Ensembl
RefSeq Acc Id: ENST00000673455   ⟹   ENSP00000500467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,743,978 - 25,794,641 (-)Ensembl
RefSeq Acc Id: NM_001369346   ⟹   NP_001356275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,733,753 - 25,830,901 (-)NCBI
RefSeq Acc Id: NM_001369347   ⟹   NP_001356276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,733,753 - 25,794,691 (-)NCBI
RefSeq Acc Id: NM_018263   ⟹   NP_060733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,733,753 - 25,878,487 (-)NCBI
GRCh37225,962,253 - 26,101,312 (-)RGD
Build 36225,815,757 - 25,954,816 (-)NCBI Archive
Celera225,802,588 - 25,941,650 (-)RGD
HuRef225,699,339 - 25,838,712 (-)RGD
CHM1_1225,891,914 - 26,030,899 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060733   ⟸   NM_018263
- Peptide Label: isoform 1
- UniProtKB: Q76L83 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356275   ⟸   NM_001369346
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356276   ⟸   NM_001369347
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000500467   ⟸   ENST00000673455
RefSeq Acc Id: ENSP00000337250   ⟸   ENST00000336112
RefSeq Acc Id: ENSP00000383920   ⟸   ENST00000404843
RefSeq Acc Id: ENSP00000500214   ⟸   ENST00000497092
RefSeq Acc Id: ENSP00000391447   ⟸   ENST00000435504
RefSeq Acc Id: ENSP00000499938   ⟸   ENST00000672666
Protein Domains
ASXH   HARE-HTH   HTH HARE-type   PHD_3

Promoters
RGD ID:6859812
Promoter ID:EPDNEW_H3070
Type:single initiation site
Name:ASXL2_2
Description:additional sex combs like 2, transcriptional regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3071  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,856,928 - 25,856,988EPDNEW
RGD ID:6859814
Promoter ID:EPDNEW_H3071
Type:initiation region
Name:ASXL2_1
Description:additional sex combs like 2, transcriptional regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3070  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,878,464 - 25,878,524EPDNEW
RGD ID:6797264
Promoter ID:HG_KWN:31838
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000272341,   OTTHUMT00000325593
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,954,746 - 25,955,246 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018263.6(ASXL2):c.3701A>C (p.Glu1234Ala) single nucleotide variant not provided [RCV000521956] Chr2:25742636 [GRCh38]
Chr2:25965505 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.2606del (p.Pro868_Ser869insTer) deletion not provided [RCV000627398] Chr2:25743731 [GRCh38]
Chr2:25966600 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 copy number gain See cases [RCV000052629] Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
Chr2:2p23.3
uncertain significance
NM_018263.4(ASXL2):c.725T>G (p.Leu242Ter) single nucleotide variant Malignant melanoma [RCV000065511] Chr2:25767633 [GRCh38]
Chr2:25990502 [GRCh37]
Chr2:25844006 [NCBI36]
Chr2:2p23.3
not provided
NM_018263.6(ASXL2):c.140+186A>G single nucleotide variant not provided [RCV000515013] Chr2:25845295 [GRCh38]
Chr2:26068164 [GRCh37]
Chr2:2p23.3
benign|likely benign
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p23.3(chr2:25819153-26272376)x1 copy number loss See cases [RCV000141873] Chr2:25819153..26272376 [GRCh38]
Chr2:26042022..26495244 [GRCh37]
Chr2:25895526..26348748 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_018263.6(ASXL2):c.2424del (p.Thr809fs) deletion Shashi-Pena syndrome [RCV000258822] Chr2:25743913 [GRCh38]
Chr2:25966782 [GRCh37]
Chr2:2p23.3
pathogenic|not provided
NM_018263.6(ASXL2):c.2472del (p.Ser825fs) deletion Shashi-Pena syndrome [RCV000258823] Chr2:25743865 [GRCh38]
Chr2:25966734 [GRCh37]
Chr2:2p23.3
pathogenic|not provided
NM_018263.6(ASXL2):c.2081dup (p.Gly696fs) duplication Shashi-Pena syndrome [RCV000258833] Chr2:25744255..25744256 [GRCh38]
Chr2:25967124..25967125 [GRCh37]
Chr2:2p23.3
pathogenic|not provided
NM_018263.6(ASXL2):c.2971_2974del (p.Gly991fs) deletion Shashi-Pena syndrome [RCV000258835] Chr2:25743363..25743366 [GRCh38]
Chr2:25966232..25966235 [GRCh37]
Chr2:2p23.3
pathogenic|not provided
NM_018263.6(ASXL2):c.1225_1228del (p.Pro409fs) deletion Shashi-Pena syndrome [RCV000258843] Chr2:25750328..25750331 [GRCh38]
Chr2:25973197..25973200 [GRCh37]
Chr2:2p23.3
pathogenic|not provided
NM_018263.6(ASXL2):c.1288G>T (p.Glu430Ter) single nucleotide variant Shashi-Pena syndrome [RCV000258846] Chr2:25750268 [GRCh38]
Chr2:25973137 [GRCh37]
Chr2:2p23.3
pathogenic|not provided
NM_018263.6(ASXL2):c.4228T>G (p.Cys1410Gly) single nucleotide variant not provided [RCV000522632] Chr2:25742109 [GRCh38]
Chr2:25964978 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys) single nucleotide variant not provided [RCV000428840] Chr2:25742226 [GRCh38]
Chr2:25965095 [GRCh37]
Chr2:2p23.3
benign|likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_018263.6(ASXL2):c.258T>A (p.Asp86Glu) single nucleotide variant not provided [RCV000894688] Chr2:25799530 [GRCh38]
Chr2:26022399 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.1930G>T (p.Val644Phe) single nucleotide variant not provided [RCV000917671] Chr2:25744407 [GRCh38]
Chr2:25967276 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.159T>G (p.Leu53=) single nucleotide variant not provided [RCV000917672] Chr2:25806322 [GRCh38]
Chr2:26029191 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.1609A>G (p.Ile537Val) single nucleotide variant not provided [RCV000969154] Chr2:25749947 [GRCh38]
Chr2:25972816 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.2332C>G (p.Pro778Ala) single nucleotide variant not provided [RCV000881180] Chr2:25744005 [GRCh38]
Chr2:25966874 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.4257T>C (p.Asp1419=) single nucleotide variant not provided [RCV000900874] Chr2:25742080 [GRCh38]
Chr2:25964949 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.3674G>C (p.Cys1225Ser) single nucleotide variant not provided [RCV000965598] Chr2:25742663 [GRCh38]
Chr2:25965532 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.2976G>A (p.Ala992=) single nucleotide variant not provided [RCV000981239] Chr2:25743361 [GRCh38]
Chr2:25966230 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.3948G>A (p.Leu1316=) single nucleotide variant not provided [RCV000924230] Chr2:25742389 [GRCh38]
Chr2:25965258 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.2050G>A (p.Ala684Thr) single nucleotide variant not provided [RCV000904341] Chr2:25744287 [GRCh38]
Chr2:25967156 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.2392A>G (p.Ile798Val) single nucleotide variant not provided [RCV000972680] Chr2:25743945 [GRCh38]
Chr2:25966814 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.2220G>A (p.Thr740=) single nucleotide variant not provided [RCV000926256] Chr2:25744117 [GRCh38]
Chr2:25966986 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.396A>G (p.Lys132=) single nucleotide variant not provided [RCV000919310] Chr2:25799392 [GRCh38]
Chr2:26022261 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.1941T>C (p.Thr647=) single nucleotide variant not provided [RCV000917536] Chr2:25744396 [GRCh38]
Chr2:25967265 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.1640A>G (p.Gln547Arg) single nucleotide variant not provided [RCV000949884] Chr2:25749916 [GRCh38]
Chr2:25972785 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.3909C>T (p.His1303=) single nucleotide variant not provided [RCV000903236] Chr2:25742428 [GRCh38]
Chr2:25965297 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.1332A>G (p.Lys444=) single nucleotide variant not provided [RCV000979194] Chr2:25750224 [GRCh38]
Chr2:25973093 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.168G>C (p.Leu56=) single nucleotide variant not provided [RCV000979369] Chr2:25806313 [GRCh38]
Chr2:26029182 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.1631C>T (p.Ala544Val) single nucleotide variant not provided [RCV000919922] Chr2:25749925 [GRCh38]
Chr2:25972794 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.3224G>A (p.Arg1075Gln) single nucleotide variant not provided [RCV000950378] Chr2:25743113 [GRCh38]
Chr2:25965982 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.4284C>T (p.Cys1428=) single nucleotide variant not provided [RCV000983119] Chr2:25742053 [GRCh38]
Chr2:25964922 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.529A>C (p.Lys177Gln) single nucleotide variant not provided [RCV000973299] Chr2:25768844 [GRCh38]
Chr2:25991713 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.1240_1241GT[1] (p.Ser415fs) microsatellite Shashi-Pena syndrome [RCV000825018] Chr2:25750313..25750314 [GRCh38]
Chr2:25973182..25973183 [GRCh37]
Chr2:2p23.3
pathogenic
NM_018263.6(ASXL2):c.1489G>A (p.Ala497Thr) single nucleotide variant not provided [RCV000958558] Chr2:25750067 [GRCh38]
Chr2:25972936 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter) single nucleotide variant Shashi-Pena syndrome [RCV000824972] Chr2:25750328 [GRCh38]
Chr2:25973197 [GRCh37]
Chr2:2p23.3
pathogenic
NM_018263.6(ASXL2):c.1452G>A (p.Lys484=) single nucleotide variant not provided [RCV000977899] Chr2:25750104 [GRCh38]
Chr2:25972973 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr) single nucleotide variant Shashi-Pena syndrome [RCV000785146] Chr2:25742219 [GRCh38]
Chr2:25965088 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.375G>A (p.Glu125=) single nucleotide variant not provided [RCV000940242] Chr2:25799413 [GRCh38]
Chr2:26022282 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.1632G>A (p.Ala544=) single nucleotide variant not provided [RCV000914192] Chr2:25749924 [GRCh38]
Chr2:25972793 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.4242C>T (p.Gly1414=) single nucleotide variant not provided [RCV000914462] Chr2:25742095 [GRCh38]
Chr2:25964964 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.2530G>C (p.Ala844Pro) single nucleotide variant Shashi-Pena syndrome [RCV000986599] Chr2:25743807 [GRCh38]
Chr2:25966676 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.2847T>G (p.Asn949Lys) single nucleotide variant Shashi-Pena syndrome [RCV001197922] Chr2:25743490 [GRCh38]
Chr2:25966359 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.620C>T (p.Pro207Leu) single nucleotide variant Shashi-Pena syndrome [RCV001196356] Chr2:25768753 [GRCh38]
Chr2:25991622 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.2358T>C (p.Ser786=) single nucleotide variant not provided [RCV000897318] Chr2:25743979 [GRCh38]
Chr2:25966848 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.553A>G (p.Ser185Gly) single nucleotide variant not provided [RCV000974381] Chr2:25768820 [GRCh38]
Chr2:25991689 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.2034C>T (p.Ala678=) single nucleotide variant not provided [RCV000919249] Chr2:25744303 [GRCh38]
Chr2:25967172 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.1728G>A (p.Glu576=) single nucleotide variant not provided [RCV000929851] Chr2:25749828 [GRCh38]
Chr2:25972697 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.2508A>C (p.Thr836=) single nucleotide variant not provided [RCV000930647] Chr2:25743829 [GRCh38]
Chr2:25966698 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.3330T>C (p.Phe1110=) single nucleotide variant not provided [RCV000939613] Chr2:25743007 [GRCh38]
Chr2:25965876 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.4188G>A (p.Thr1396=) single nucleotide variant not provided [RCV000907488] Chr2:25742149 [GRCh38]
Chr2:25965018 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.1772G>A (p.Arg591His) single nucleotide variant not provided [RCV000886365] Chr2:25749784 [GRCh38]
Chr2:25972653 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.3102G>T (p.Arg1034Ser) single nucleotide variant not provided [RCV000910343] Chr2:25743235 [GRCh38]
Chr2:25966104 [GRCh37]
Chr2:2p23.3
benign
NM_018263.6(ASXL2):c.2031C>T (p.Ala677=) single nucleotide variant not provided [RCV000910874] Chr2:25744306 [GRCh38]
Chr2:25967175 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.1388C>G (p.Pro463Arg) single nucleotide variant not provided [RCV000898234] Chr2:25750168 [GRCh38]
Chr2:25973037 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.303C>T (p.Ser101=) single nucleotide variant not provided [RCV000933429] Chr2:25799485 [GRCh38]
Chr2:26022354 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.4157C>T (p.Ala1386Val) single nucleotide variant not provided [RCV000913308] Chr2:25742180 [GRCh38]
Chr2:25965049 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.435A>C (p.Pro145=) single nucleotide variant not provided [RCV000913935] Chr2:25771509 [GRCh38]
Chr2:25994378 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.4164C>T (p.Ser1388=) single nucleotide variant not provided [RCV000912097] Chr2:25742173 [GRCh38]
Chr2:25965042 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.4089T>C (p.Thr1363=) single nucleotide variant not provided [RCV000913043] Chr2:25742248 [GRCh38]
Chr2:25965117 [GRCh37]
Chr2:2p23.3
likely benign
NM_018263.6(ASXL2):c.2838C>A (p.Ile946=) single nucleotide variant not provided [RCV000935845] Chr2:25743499 [GRCh38]
Chr2:25966368 [GRCh37]
Chr2:2p23.3
likely benign
GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1 copy number loss not provided [RCV001005236] Chr2:24710112..25987357 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.1879dup (p.Ser627fs) duplication not provided [RCV001008607] Chr2:25744457..25744458 [GRCh38]
Chr2:25967326..25967327 [GRCh37]
Chr2:2p23.3
pathogenic
NM_018263.6(ASXL2):c.1309C>T (p.Gln437Ter) single nucleotide variant not provided [RCV001268301] Chr2:25750247 [GRCh38]
Chr2:25973116 [GRCh37]
Chr2:2p23.3
likely pathogenic
GRCh37/hg19 2p23.3(chr2:25938039-26385614)x3 copy number gain not provided [RCV001259153] Chr2:25938039..26385614 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.725T>A (p.Leu242Ter) single nucleotide variant Inborn genetic diseases [RCV001266331] Chr2:25767633 [GRCh38]
Chr2:25990502 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_018263.6(ASXL2):c.2591A>C (p.Asn864Thr) single nucleotide variant Shashi-Pena syndrome [RCV001270808] Chr2:25743746 [GRCh38]
Chr2:25966615 [GRCh37]
Chr2:2p23.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23805 AgrOrtholog
COSMIC ASXL2 COSMIC
Ensembl Genes ENSG00000143970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337250 UniProtKB/TrEMBL
  ENSP00000383920 UniProtKB/Swiss-Prot
  ENSP00000391447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499938 UniProtKB/TrEMBL
  ENSP00000500214 UniProtKB/TrEMBL
  ENSP00000500467 UniProtKB/TrEMBL
Ensembl Transcript ENST00000336112 UniProtKB/TrEMBL
  ENST00000404843 UniProtKB/Swiss-Prot
  ENST00000435504 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000497092 UniProtKB/TrEMBL
  ENST00000672666 UniProtKB/TrEMBL
  ENST00000673455 UniProtKB/TrEMBL
GTEx ENSG00000143970 GTEx
HGNC ID HGNC:23805 ENTREZGENE
Human Proteome Map ASXL2 Human Proteome Map
InterPro ASX-like_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASX/ASX-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASXL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HB1/Asxl_HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55252 UniProtKB/Swiss-Prot
NCBI Gene 55252 ENTREZGENE
OMIM 612991 OMIM
  617190 OMIM
PANTHER PTHR13578 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13578:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASXH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HARE-HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884863 PharmGKB
PROSITE DEUBAD UniProtKB/Swiss-Prot
  HTH_HARE UniProtKB/Swiss-Prot
UniProt A0A5F9ZH08_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHC8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHN2_HUMAN UniProtKB/TrEMBL
  ASXL2_HUMAN UniProtKB/Swiss-Prot
  E7EWD6_HUMAN UniProtKB/TrEMBL
  Q76L83 ENTREZGENE
UniProt Secondary Q53TC9 UniProtKB/Swiss-Prot
  Q5H9U4 UniProtKB/Swiss-Prot
  Q76L81 UniProtKB/Swiss-Prot
  Q86XM1 UniProtKB/Swiss-Prot
  Q9C0H8 UniProtKB/Swiss-Prot
  Q9NV67 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-15 ASXL2  ASXL transcriptional regulator 2    additional sex combs like 2, transcriptional regulator  Symbol and/or name change 5135510 APPROVED
2015-12-01 ASXL2  additional sex combs like 2, transcriptional regulator    additional sex combs like transcriptional regulator 2  Symbol and/or name change 5135510 APPROVED
2014-06-24 ASXL2  additional sex combs like transcriptional regulator 2    additional sex combs like 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-09-01 ASXL2  additional sex combs like 2 (Drosophila)  ASXL2  additional sex combs like 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED