AAR2 (AAR2 splicing factor) - Rat Genome Database

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Gene: AAR2 (AAR2 splicing factor) Homo sapiens
Analyze
Symbol: AAR2
Name: AAR2 splicing factor
RGD ID: 1322325
HGNC Page HGNC:15886
Description: Predicted to be involved in spliceosomal tri-snRNP complex assembly. Predicted to be part of U5 snRNP.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAR2 splicing factor homolog; bA234K24.2; C20orf4; CGI-23; DKFZp564N1363; hypothetical protein LOC25980; protein AAR2 homolog; uncharacterized protein C20orf4
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
GRCh382036,236,478 - 36,256,933 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,236,131 - 36,270,918 (+)EnsemblGRCh38hg38GRCh38
GRCh372034,824,400 - 34,844,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,287,861 - 34,308,267 (+)NCBINCBI36Build 36hg18NCBI36
Build 342034,287,860 - 34,308,267NCBI
Celera2031,573,223 - 31,593,632 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2031,601,803 - 31,622,330 (+)NCBIHuRef
CHM1_12034,726,464 - 34,746,984 (+)NCBICHM1_1
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Structural analyses of the pre-mRNA splicing machinery. Zhang L, etal., Protein Sci. 2013 Jun;22(6):677-92. doi: 10.1002/pro.2266. Epub 2013 May 8.
Additional References at PubMed
PMID:10810093   PMID:11230166   PMID:11720285   PMID:11780052   PMID:12477932   PMID:12665801   PMID:15489334   PMID:16189514   PMID:16196087   PMID:17207965   PMID:20360068   PMID:21139048  
PMID:21145461   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:22505724   PMID:22939629   PMID:23000965   PMID:24816145   PMID:24981860   PMID:25147182   PMID:26186194  
PMID:26344197   PMID:26472760   PMID:26496610   PMID:26527271   PMID:26638075   PMID:26972000   PMID:27025967   PMID:27173435   PMID:27432908   PMID:28380382   PMID:28514442   PMID:28515276  
PMID:28561026   PMID:28675297   PMID:29053956   PMID:29180619   PMID:29229926   PMID:29467282   PMID:29507755   PMID:29773831   PMID:30415952   PMID:31073040   PMID:31091453   PMID:31586073  
PMID:32353859   PMID:32683582   PMID:33001583   PMID:33060197   PMID:33306668   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34131137   PMID:34159380   PMID:35241646  
PMID:35256949   PMID:35271311   PMID:35559673   PMID:35563538   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36191209   PMID:36215168   PMID:36322420   PMID:36339263  
PMID:36526897   PMID:36538041   PMID:37827155  


Genomics

Comparative Map Data
AAR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,236,478 - 36,256,933 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,236,131 - 36,270,918 (+)EnsemblGRCh38hg38GRCh38
GRCh372034,824,400 - 34,844,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,287,861 - 34,308,267 (+)NCBINCBI36Build 36hg18NCBI36
Build 342034,287,860 - 34,308,267NCBI
Celera2031,573,223 - 31,593,632 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2031,601,803 - 31,622,330 (+)NCBIHuRef
CHM1_12034,726,464 - 34,746,984 (+)NCBICHM1_1
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBIT2T-CHM13v2.0
Aar2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392156,389,496 - 156,410,892 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2156,389,504 - 156,410,892 (+)EnsemblGRCm39 Ensembl
GRCm382156,547,560 - 156,568,972 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2156,547,584 - 156,568,972 (+)EnsemblGRCm38mm10GRCm38
MGSCv372156,373,312 - 156,394,708 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362156,239,040 - 156,260,413 (+)NCBIMGSCv36mm8
Celera2162,484,080 - 162,505,364 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map277.54NCBI
Aar2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83165,517,467 - 165,540,260 (+)NCBIGRCr8
mRatBN7.23145,057,368 - 145,079,838 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3145,057,458 - 145,080,166 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3148,922,912 - 148,944,370 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03157,539,934 - 157,561,294 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03155,278,972 - 155,300,499 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03152,626,738 - 152,648,365 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3152,626,757 - 152,649,609 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03159,044,386 - 159,067,393 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43146,962,602 - 146,983,950 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13146,868,554 - 146,890,957 (+)NCBI
Celera3143,774,819 - 143,796,183 (+)NCBICelera
Cytogenetic Map3q42NCBI
Aar2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542225,315,765 - 25,335,630 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542225,306,056 - 25,335,572 (-)NCBIChiLan1.0ChiLan1.0
AAR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22141,970,438 - 41,991,362 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12041,963,539 - 41,984,463 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02032,565,770 - 32,586,299 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12033,685,529 - 33,705,953 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2033,685,529 - 33,705,953 (+)Ensemblpanpan1.1panPan2
AAR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12425,053,200 - 25,070,646 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2425,053,034 - 25,082,347 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2424,699,633 - 24,717,038 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02425,745,780 - 25,763,240 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2425,745,208 - 25,764,774 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12425,030,693 - 25,048,138 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02425,125,173 - 25,142,583 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02425,615,493 - 25,632,953 (+)NCBIUU_Cfam_GSD_1.0
Aar2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640174,019,667 - 174,040,213 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365614,709,402 - 4,729,907 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365614,709,351 - 4,729,849 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AAR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1739,498,730 - 39,522,695 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11739,498,682 - 39,521,195 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21744,904,054 - 44,925,600 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AAR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1257,088,636 - 57,117,591 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl257,088,513 - 57,110,407 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660873,576,060 - 3,605,297 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aar2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248423,232,085 - 3,255,813 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248423,233,836 - 3,255,409 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AAR2
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
NM_001271874.2(AAR2):c.520G>A (p.Val174Met) single nucleotide variant Global developmental delay [RCV000490936] Chr20:36240388 [GRCh38]
Chr20:34828310 [GRCh37]
Chr20:20q11.23		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001271874.2(AAR2):c.1093G>A (p.Ala365Thr) single nucleotide variant not provided [RCV000878996] Chr20:36255683 [GRCh38]
Chr20:34843605 [GRCh37]
Chr20:20q11.23		 likely benign
NM_001271874.2(AAR2):c.17T>C (p.Met6Thr) single nucleotide variant Inborn genetic diseases [RCV003269948] Chr20:36239885 [GRCh38]
Chr20:34827807 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_001271874.2(AAR2):c.462G>C (p.Gln154His) single nucleotide variant Inborn genetic diseases [RCV002689740] Chr20:36240330 [GRCh38]
Chr20:34828252 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.715G>A (p.Val239Met) single nucleotide variant Inborn genetic diseases [RCV002691784] Chr20:36240583 [GRCh38]
Chr20:34828505 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.581G>A (p.Arg194Gln) single nucleotide variant Inborn genetic diseases [RCV002951477] Chr20:36240449 [GRCh38]
Chr20:34828371 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.721A>T (p.Asn241Tyr) single nucleotide variant Inborn genetic diseases [RCV002978723] Chr20:36240589 [GRCh38]
Chr20:34828511 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.137G>A (p.Arg46Gln) single nucleotide variant Inborn genetic diseases [RCV002951449] Chr20:36240005 [GRCh38]
Chr20:34827927 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.320A>T (p.Glu107Val) single nucleotide variant Inborn genetic diseases [RCV002789370] Chr20:36240188 [GRCh38]
Chr20:34828110 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.1112C>T (p.Ala371Val) single nucleotide variant Inborn genetic diseases [RCV002956924] Chr20:36255702 [GRCh38]
Chr20:34843624 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.847C>T (p.Arg283Trp) single nucleotide variant Inborn genetic diseases [RCV002668608] Chr20:36244786 [GRCh38]
Chr20:34832708 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.347A>T (p.Gln116Leu) single nucleotide variant Inborn genetic diseases [RCV002944370] Chr20:36240215 [GRCh38]
Chr20:34828137 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001271874.2(AAR2):c.854A>G (p.Glu285Gly) single nucleotide variant Inborn genetic diseases [RCV003367206] Chr20:36244793 [GRCh38]
Chr20:34832715 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20q11.23(chr20:34795376-35025530)x3 copy number gain not provided [RCV003485213] Chr20:34795376..35025530 [GRCh37]
Chr20:20q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1409
Count of miRNA genes:582
Interacting mature miRNAs:638
Transcripts:ENST00000320849, ENST00000373932, ENST00000397286
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.

Markers in Region
RH80496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,844,584 - 34,844,810UniSTSGRCh37
Build 362034,307,998 - 34,308,224RGDNCBI36
Celera2031,593,363 - 31,593,589RGD
Cytogenetic Map20pter-q12UniSTS
HuRef2031,622,051 - 31,622,277UniSTS
GeneMap99-GB4 RH Map20205.6UniSTS
SHGC-142131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,828,336 - 34,828,646UniSTSGRCh37
Build 362034,291,750 - 34,292,060RGDNCBI36
Celera2031,577,115 - 31,577,425RGD
Cytogenetic Map20pter-q12UniSTS
HuRef2031,605,803 - 31,606,113UniSTS
SHGC-64252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,844,521 - 34,844,638UniSTSGRCh37
Build 362034,307,935 - 34,308,052RGDNCBI36
Celera2031,593,300 - 31,593,417RGD
Cytogenetic Map20pter-q12UniSTS
HuRef2031,621,988 - 31,622,105UniSTS


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 2413 1968 1591 515 1395 357 4159 1721 2223 381 1456 1589 172 1 1204 2591 5 1
Low 26 1022 135 109 555 108 198 476 1511 38 4 24 3 197 1 1
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001271874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF113672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW006181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY019727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320849   ⟹   ENSP00000313674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,478 - 36,256,933 (+)Ensembl
RefSeq Acc Id: ENST00000373932   ⟹   ENSP00000363043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,485 - 36,256,933 (+)Ensembl
RefSeq Acc Id: ENST00000397286   ⟹   ENSP00000380455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,459 - 36,270,918 (+)Ensembl
RefSeq Acc Id: ENST00000679519   ⟹   ENSP00000505952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,464 - 36,256,921 (+)Ensembl
RefSeq Acc Id: ENST00000679667   ⟹   ENSP00000506354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,465 - 36,256,921 (+)Ensembl
RefSeq Acc Id: ENST00000680185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,464 - 36,247,769 (+)Ensembl
RefSeq Acc Id: ENST00000680247   ⟹   ENSP00000505295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,478 - 36,256,921 (+)Ensembl
RefSeq Acc Id: ENST00000680412   ⟹   ENSP00000505137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,464 - 36,256,914 (+)Ensembl
RefSeq Acc Id: ENST00000680639   ⟹   ENSP00000505405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,131 - 36,256,921 (+)Ensembl
RefSeq Acc Id: ENST00000680811   ⟹   ENSP00000506185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,484 - 36,256,922 (+)Ensembl
RefSeq Acc Id: ENST00000680933   ⟹   ENSP00000505061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,468 - 36,256,926 (+)Ensembl
RefSeq Acc Id: ENST00000681771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,236,478 - 36,241,206 (+)Ensembl
RefSeq Acc Id: NM_001271874   ⟹   NP_001258803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,256,933 (+)NCBI
GRCh372034,824,339 - 34,844,863 (+)NCBI
HuRef2031,601,803 - 31,622,330 (+)NCBI
CHM1_12034,726,464 - 34,746,984 (+)NCBI
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015511   ⟹   NP_056326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,256,933 (+)NCBI
GRCh372034,824,339 - 34,844,863 (+)NCBI
Build 362034,287,861 - 34,308,267 (+)NCBI Archive
Celera2031,573,223 - 31,593,632 (+)RGD
HuRef2031,601,803 - 31,622,330 (+)NCBI
CHM1_12034,726,464 - 34,746,984 (+)NCBI
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723770   ⟹   XP_006723833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,256,933 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528762   ⟹   XP_011527064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,256,933 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528763   ⟹   XP_011527065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,256,933 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440082   ⟹   XP_047296038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,256,933 (+)NCBI
RefSeq Acc Id: XM_054323316   ⟹   XP_054179291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBI
RefSeq Acc Id: XM_054323317   ⟹   XP_054179292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBI
RefSeq Acc Id: XM_054323318   ⟹   XP_054179293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBI
RefSeq Acc Id: XM_054323319   ⟹   XP_054179294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,957,177 - 37,977,632 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_056326   ⟸   NM_015511
- UniProtKB: Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot),   Q9Y312 (UniProtKB/Swiss-Prot),   A0A7P0TA70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258803   ⟸   NM_001271874
- UniProtKB: Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot),   Q9Y312 (UniProtKB/Swiss-Prot),   A0A7P0TA70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006723833   ⟸   XM_006723770
- Peptide Label: isoform X1
- UniProtKB: Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot),   Q9Y312 (UniProtKB/Swiss-Prot),   A0A7P0TA70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527064   ⟸   XM_011528762
- Peptide Label: isoform X1
- UniProtKB: Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot),   Q9Y312 (UniProtKB/Swiss-Prot),   A0A7P0TA70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527065   ⟸   XM_011528763
- Peptide Label: isoform X1
- UniProtKB: Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot),   Q9Y312 (UniProtKB/Swiss-Prot),   A0A7P0TA70 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000313674   ⟸   ENST00000320849
RefSeq Acc Id: ENSP00000363043   ⟸   ENST00000373932
RefSeq Acc Id: ENSP00000380455   ⟸   ENST00000397286
RefSeq Acc Id: ENSP00000505137   ⟸   ENST00000680412
RefSeq Acc Id: ENSP00000505295   ⟸   ENST00000680247
RefSeq Acc Id: ENSP00000505061   ⟸   ENST00000680933
RefSeq Acc Id: ENSP00000505952   ⟸   ENST00000679519
RefSeq Acc Id: ENSP00000505405   ⟸   ENST00000680639
RefSeq Acc Id: ENSP00000506354   ⟸   ENST00000679667
RefSeq Acc Id: ENSP00000506185   ⟸   ENST00000680811
RefSeq Acc Id: XP_047296038   ⟸   XM_047440082
- Peptide Label: isoform X1
- UniProtKB: Q9Y312 (UniProtKB/Swiss-Prot),   Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179292   ⟸   XM_054323317
- Peptide Label: isoform X1
- UniProtKB: Q9Y312 (UniProtKB/Swiss-Prot),   Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179293   ⟸   XM_054323318
- Peptide Label: isoform X1
- UniProtKB: Q9Y312 (UniProtKB/Swiss-Prot),   Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179291   ⟸   XM_054323316
- Peptide Label: isoform X1
- UniProtKB: Q9Y312 (UniProtKB/Swiss-Prot),   Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179294   ⟸   XM_054323319
- Peptide Label: isoform X1
- UniProtKB: Q9Y312 (UniProtKB/Swiss-Prot),   Q9P1P3 (UniProtKB/Swiss-Prot),   Q9H4F9 (UniProtKB/Swiss-Prot),   E1P5S7 (UniProtKB/Swiss-Prot),   Q9UFK9 (UniProtKB/Swiss-Prot)
Protein Domains
AAR2 C-terminal   AAR2 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y312-F1-model_v2 AlphaFold Q9Y312 1-384 view protein structure

Promoters
RGD ID:6798587
Promoter ID:HG_KWN:39287
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397286,   OTTHUMT00000079001,   UC002XFC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362034,287,556 - 34,288,056 (+)MPROMDB
RGD ID:13206825
Promoter ID:EPDNEW_H26994
Type:initiation region
Name:AAR2_1
Description:AAR2 splicing factor homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,236,478 - 36,236,538EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15886 AgrOrtholog
COSMIC AAR2 COSMIC
Ensembl Genes ENSG00000131043 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320849 ENTREZGENE
  ENST00000320849.9 UniProtKB/Swiss-Prot
  ENST00000373932 ENTREZGENE
  ENST00000373932.3 UniProtKB/Swiss-Prot
  ENST00000397286.7 UniProtKB/TrEMBL
  ENST00000679519.1 UniProtKB/TrEMBL
  ENST00000679667.1 UniProtKB/Swiss-Prot
  ENST00000680247 ENTREZGENE
  ENST00000680247.1 UniProtKB/Swiss-Prot
  ENST00000680412.1 UniProtKB/TrEMBL
  ENST00000680639 ENTREZGENE
  ENST00000680639.1 UniProtKB/Swiss-Prot
  ENST00000680811.1 UniProtKB/Swiss-Prot
  ENST00000680933.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.34.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131043 GTEx
HGNC ID HGNC:15886 ENTREZGENE
Human Proteome Map AAR2 Human Proteome Map
InterPro AAR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAR2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAR2_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aar2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAR2_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25980 UniProtKB/Swiss-Prot
NCBI Gene 25980 ENTREZGENE
OMIM 617365 OMIM
PANTHER PROTEIN AAR2 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAR2_1st UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25753 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
UniProt A0A7P0T8J7_HUMAN UniProtKB/TrEMBL
  A0A7P0TA70 ENTREZGENE, UniProtKB/TrEMBL
  A2A2Q9_HUMAN UniProtKB/TrEMBL
  AAR2_HUMAN UniProtKB/Swiss-Prot
  E1P5S7 ENTREZGENE
  Q9H4F9 ENTREZGENE
  Q9P1P3 ENTREZGENE
  Q9UFK9 ENTREZGENE
  Q9Y312 ENTREZGENE
UniProt Secondary E1P5S7 UniProtKB/Swiss-Prot
  Q9H4F9 UniProtKB/Swiss-Prot
  Q9P1P3 UniProtKB/Swiss-Prot
  Q9UFK9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 AAR2  AAR2 splicing factor    AAR2 splicing factor homolog  Symbol and/or name change 5135510 APPROVED
2015-07-07 AAR2  AAR2 splicing factor homolog    AAR2 splicing factor homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-07-24 AAR2  AAR2 splicing factor homolog (S. cerevisiae)  C20orf4  chromosome 20 open reading frame 4  Symbol and/or name change 5135510 APPROVED