TAF2 (TATA-box binding protein associated factor 2) - Rat Genome Database

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Gene: TAF2 (TATA-box binding protein associated factor 2) Homo sapiens
Analyze
Symbol: TAF2
Name: TATA-box binding protein associated factor 2
RGD ID: 1353856
HGNC Page HGNC
Description: Exhibits transcription regulatory region sequence-specific DNA binding activity. Is predicted to contribute to RNA polymerase II general transcription initiation factor activity. Involved in G2/M transition of mitotic cell cycle and transcription initiation from RNA polymerase II promoter. Localizes to transcription factor TFIID complex and transcription factor TFTC complex. Implicated in autosomal recessive non-syndromic intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 150 kDa cofactor of initiator function; CIF150; cofactor of initiator function, 150kD subunit; MRT40; RNA polymerase II TBP-associated factor subunit B; TAF(II)150; TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa; TAF2B; TAFII-150; TAFII150; TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD; TATA box binding protein associated factor 2; TBP-associated factor 150 kDa; transcription initiation factor TFIID 150 kDa subunit; transcription initiation factor TFIID subunit 2
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 Ensembl8119,730,774 - 119,832,841 (-)EnsemblGRCh38hg38GRCh38
GRCh388119,730,773 - 119,832,858 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,743,014 - 120,845,081 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,812,195 - 120,914,255 (-)NCBINCBI36hg18NCBI36
Build 348120,812,195 - 120,914,255NCBI
Celera8116,932,070 - 117,034,135 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,063,646 - 116,165,955 (-)NCBIHuRef
CHM1_18120,783,731 - 120,885,905 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7597030   PMID:7680771   PMID:7801123   PMID:7835343   PMID:7836461   PMID:7933101   PMID:8121496   PMID:8680883   PMID:8764009   PMID:8764062   PMID:8849451   PMID:9054383  
PMID:9418870   PMID:9726987   PMID:9765300   PMID:9774672   PMID:10373431   PMID:10409744   PMID:10469661   PMID:11337467   PMID:11406595   PMID:11564863   PMID:12477932   PMID:12601814  
PMID:14580349   PMID:14702039   PMID:14729963   PMID:15489334   PMID:15870300   PMID:16009940   PMID:16083285   PMID:17081983   PMID:17643375   PMID:17884155   PMID:17967894   PMID:18235501  
PMID:19114550   PMID:19240132   PMID:19322201   PMID:19336002   PMID:20811636   PMID:20850016   PMID:21729782   PMID:21873635   PMID:22939629   PMID:23518577   PMID:23667531   PMID:23827503  
PMID:24084144   PMID:24366813   PMID:24515614   PMID:25586196   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27007846   PMID:27634302   PMID:27703004   PMID:28514442  
PMID:28718761   PMID:29111974   PMID:29180619   PMID:29467282   PMID:29509190   PMID:29511261   PMID:29568061   PMID:30033366   PMID:30639242   PMID:31076518   PMID:31365120   PMID:31527615  
PMID:31586073   PMID:31753913   PMID:32296183   PMID:32416067   PMID:32838362  


Genomics

Comparative Map Data
TAF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8119,730,774 - 119,832,841 (-)EnsemblGRCh38hg38GRCh38
GRCh388119,730,773 - 119,832,858 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,743,014 - 120,845,081 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,812,195 - 120,914,255 (-)NCBINCBI36hg18NCBI36
Build 348120,812,195 - 120,914,255NCBI
Celera8116,932,070 - 117,034,135 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,063,646 - 116,165,955 (-)NCBIHuRef
CHM1_18120,783,731 - 120,885,905 (-)NCBICHM1_1
Taf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,878,525 - 54,935,580 (-)NCBIGRCm39mm39
GRCm39 Ensembl1554,878,527 - 54,935,548 (-)Ensembl
GRCm381555,015,129 - 55,072,187 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,015,131 - 55,072,152 (-)EnsemblGRCm38mm10GRCm38
MGSCv371554,846,684 - 54,903,707 (-)NCBIGRCm37mm9NCBIm37
MGSCv361554,845,212 - 54,902,235 (-)NCBImm8
Celera1556,554,123 - 56,610,674 (-)NCBICelera
Cytogenetic Map15D1NCBI
Taf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2786,422,613 - 86,479,616 (-)NCBI
Rnor_6.0 Ensembl794,698,987 - 94,755,924 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0794,698,987 - 94,755,924 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0795,339,750 - 95,396,754 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,542,400 - 91,599,759 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1791,589,861 - 91,597,921 (-)NCBI
Celera783,216,946 - 83,273,562 (-)NCBICelera
Cytogenetic Map7q32NCBI
Taf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541725,457,615 - 25,515,923 (-)NCBIChiLan1.0ChiLan1.0
TAF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18119,170,327 - 119,271,405 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,170,327 - 119,271,405 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08116,421,520 - 116,523,138 (-)NCBIMhudiblu_PPA_v0panPan3
TAF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,724,408 - 18,824,025 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,729,234 - 18,823,979 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,732,315 - 18,837,051 (-)NCBI
ROS_Cfam_1.01319,053,514 - 19,153,172 (-)NCBI
UMICH_Zoey_3.11318,780,662 - 18,880,287 (-)NCBI
UNSW_CanFamBas_1.01318,879,633 - 18,979,783 (-)NCBI
UU_Cfam_GSD_1.01319,112,087 - 19,210,511 (-)NCBI
Taf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,445,742 - 19,525,705 (+)NCBI
SpeTri2.0NW_00493647026,871,865 - 26,951,804 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,180,280 - 19,278,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,180,215 - 19,267,416 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2420,215,503 - 20,284,755 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TAF2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,291,325 - 114,395,189 (-)NCBI
ChlSab1.1 Ensembl8114,290,866 - 114,395,537 (-)Ensembl
Taf2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,801,835 - 17,907,538 (-)NCBI

Position Markers
WI-13446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,831,982 - 120,832,131UniSTSGRCh37
Build 368120,901,163 - 120,901,312RGDNCBI36
Celera8117,021,048 - 117,021,197RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,152,864 - 116,153,013UniSTS
GeneMap99-GB4 RH Map8465.16UniSTS
Whitehead-RH Map8617.7UniSTS
SHGC-82884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,794,421 - 120,794,692UniSTSGRCh37
Build 368120,863,602 - 120,863,873RGDNCBI36
Celera8116,983,392 - 116,983,663RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,114,945 - 116,115,216UniSTS
TNG Radiation Hybrid Map857781.0UniSTS
G59496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,832,008 - 120,832,109UniSTSGRCh37
Build 368120,901,189 - 120,901,290RGDNCBI36
Celera8117,021,074 - 117,021,175RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,152,890 - 116,152,991UniSTS
TNG Radiation Hybrid Map857809.0UniSTS
G17201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,839,501 - 120,839,652UniSTSGRCh37
Build 368120,908,682 - 120,908,833RGDNCBI36
Celera8117,028,566 - 117,028,717RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,160,386 - 116,160,537UniSTS
G31435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,808,436 - 120,808,553UniSTSGRCh37
Build 368120,877,617 - 120,877,734RGDNCBI36
Celera8116,997,407 - 116,997,524RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,129,197 - 116,129,314UniSTS
TAF2_3470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,742,936 - 120,743,726UniSTSGRCh37
Build 368120,812,117 - 120,812,907RGDNCBI36
Celera8116,931,992 - 116,932,782RGD
HuRef8116,063,568 - 116,064,358UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1459
Count of miRNA genes:857
Interacting mature miRNAs:993
Transcripts:ENST00000378164, ENST00000519355, ENST00000521007, ENST00000523078, ENST00000523098, ENST00000523734, ENST00000523904, ENST00000526969, ENST00000529653
Prediction methods:Microtar, 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 1286 1234 1059 163 1002 94 2928 565 1301 201 1223 1345 86 1 973 1700 6 2
Low 1153 1719 667 461 915 371 1428 1628 2431 217 237 268 89 231 1088
Below cutoff 38 34 4 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF057694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU098502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378164   ⟹   ENSP00000367406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,730,774 - 119,832,841 (-)Ensembl
RefSeq Acc Id: ENST00000519355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,746,866 - 119,767,128 (-)Ensembl
RefSeq Acc Id: ENST00000521007   ⟹   ENSP00000428484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,803,961 - 119,832,834 (-)Ensembl
RefSeq Acc Id: ENST00000523078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,756,056 - 119,762,908 (-)Ensembl
RefSeq Acc Id: ENST00000523098   ⟹   ENSP00000428690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,760,455 - 119,762,534 (-)Ensembl
RefSeq Acc Id: ENST00000523734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,789,679 - 119,791,874 (-)Ensembl
RefSeq Acc Id: ENST00000523904   ⟹   ENSP00000430832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,788,354 - 119,797,830 (-)Ensembl
RefSeq Acc Id: ENST00000526969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,732,062 - 119,744,586 (-)Ensembl
RefSeq Acc Id: ENST00000529653   ⟹   ENSP00000436750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,731,815 - 119,760,668 (-)Ensembl
RefSeq Acc Id: NM_003184   ⟹   NP_003175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,832,841 (-)NCBI
GRCh378120,743,014 - 120,845,074 (-)ENTREZGENE
Build 368120,812,195 - 120,914,255 (-)NCBI Archive
HuRef8116,063,646 - 116,165,955 (-)ENTREZGENE
CHM1_18120,783,731 - 120,885,905 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716621   ⟹   XP_006716684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,832,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517259   ⟹   XP_011515561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,832,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013779   ⟹   XP_016869268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,832,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013780   ⟹   XP_016869269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,819,446 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013781   ⟹   XP_016869270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,819,446 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013782   ⟹   XP_016869271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,817,953 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013783   ⟹   XP_016869272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,832,831 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013785   ⟹   XP_016869274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,773 - 119,832,841 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013786   ⟹   XP_016869275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,731,738 - 119,832,848 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013790   ⟹   XP_016869279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,773 - 119,832,848 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013791   ⟹   XP_016869280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,773 - 119,832,857 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447240   ⟹   XP_024303008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,773 - 119,832,849 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447241   ⟹   XP_024303009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,773 - 119,832,834 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447242   ⟹   XP_024303010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,730,774 - 119,832,843 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447243   ⟹   XP_024303011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,731,738 - 119,832,841 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003175 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716684 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515561 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869268 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869269 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869270 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869271 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869272 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869274 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869275 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869279 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869280 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303008 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303009 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303010 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303011 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC02966 (Get FASTA)   NCBI Sequence Viewer  
  AAC13540 (Get FASTA)   NCBI Sequence Viewer  
  AAC68502 (Get FASTA)   NCBI Sequence Viewer  
  AAH35673 (Get FASTA)   NCBI Sequence Viewer  
  AAH47732 (Get FASTA)   NCBI Sequence Viewer  
  AAH64830 (Get FASTA)   NCBI Sequence Viewer  
  BAG38179 (Get FASTA)   NCBI Sequence Viewer  
  BAG50950 (Get FASTA)   NCBI Sequence Viewer  
  BAG50991 (Get FASTA)   NCBI Sequence Viewer  
  CAB70836 (Get FASTA)   NCBI Sequence Viewer  
  EAW91991 (Get FASTA)   NCBI Sequence Viewer  
  EAW91992 (Get FASTA)   NCBI Sequence Viewer  
  EAW91993 (Get FASTA)   NCBI Sequence Viewer  
  Q6P1X5 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003175   ⟸   NM_003184
- Sequence:
RefSeq Acc Id: XP_006716684   ⟸   XM_006716621
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515561   ⟸   XM_011517259
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869272   ⟸   XM_017013783
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016869269   ⟸   XM_017013780
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869270   ⟸   XM_017013781
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869271   ⟸   XM_017013782
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869268   ⟸   XM_017013779
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869275   ⟸   XM_017013786
- Peptide Label: isoform X6
- UniProtKB: A0A024R9E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869279   ⟸   XM_017013790
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016869280   ⟸   XM_017013791
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016869274   ⟸   XM_017013785
- Peptide Label: isoform X6
- UniProtKB: A0A024R9E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303008   ⟸   XM_024447240
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024303009   ⟸   XM_024447241
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024303010   ⟸   XM_024447242
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_024303011   ⟸   XM_024447243
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000367406   ⟸   ENST00000378164
RefSeq Acc Id: ENSP00000428484   ⟸   ENST00000521007
RefSeq Acc Id: ENSP00000430832   ⟸   ENST00000523904
RefSeq Acc Id: ENSP00000428690   ⟸   ENST00000523098
RefSeq Acc Id: ENSP00000436750   ⟸   ENST00000529653

Promoters
RGD ID:7214067
Promoter ID:EPDNEW_H12779
Type:initiation region
Name:TAF2_1
Description:TATA-box binding protein associated factor 2
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
GRCh388119,832,841 - 119,832,901EPDNEW
RGD ID:6807056
Promoter ID:HG_KWN:61986
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:NM_003184
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,913,956 - 120,914,456 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
NM_003184.3(TAF2):c.253A>T (p.Ile85Phe) single nucleotide variant Malignant melanoma [RCV000061740] Chr8:119819392 [GRCh38]
Chr8:120831632 [GRCh37]
Chr8:120900813 [NCBI36]
Chr8:8q24.12
not provided
NM_003184.4(TAF2):c.1945T>C (p.Trp649Arg) single nucleotide variant Mental retardation, autosomal recessive 40 [RCV000077872] Chr8:119783548 [GRCh38]
Chr8:120795788 [GRCh37]
Chr8:8q24.12
pathogenic
NM_003184.4(TAF2):c.1247C>A (p.Pro416His) single nucleotide variant Mental retardation, autosomal recessive 40 [RCV000077873]|not provided [RCV000999063] Chr8:119793396 [GRCh38]
Chr8:120805636 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_003184.4(TAF2):c.557C>G (p.Thr186Arg) single nucleotide variant Mental retardation, autosomal recessive 40 [RCV000077874]|not provided [RCV000999064] Chr8:119803881 [GRCh38]
Chr8:120816121 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3 copy number gain See cases [RCV000136693] Chr8:119336700..119893839 [GRCh38]
Chr8:120348940..120906079 [GRCh37]
Chr8:120418121..120975260 [NCBI36]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q24.12(chr8:118899704-119750010)x1 copy number loss See cases [RCV000137740] Chr8:118899704..119750010 [GRCh38]
Chr8:119911943..120762250 [GRCh37]
Chr8:119981124..120831431 [NCBI36]
Chr8:8q24.12
likely benign
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_003184.4(TAF2):c.1550C>T (p.Pro517Leu) single nucleotide variant not provided [RCV000731942] Chr8:119789610 [GRCh38]
Chr8:120801850 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120602818-120960053)x3 copy number gain See cases [RCV000447837] Chr8:120602818..120960053 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe) single nucleotide variant not provided [RCV000971766]|not specified [RCV000504470] Chr8:119788818 [GRCh38]
Chr8:120801058 [GRCh37]
Chr8:8q24.12
likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) single nucleotide variant Mental retardation, autosomal recessive 40 [RCV001336547]|not provided [RCV000954119]|not specified [RCV000502851] Chr8:119819488 [GRCh38]
Chr8:120831728 [GRCh37]
Chr8:8q24.12
likely benign|uncertain significance
NM_003184.4(TAF2):c.3478A>C (p.Lys1160Gln) single nucleotide variant not specified [RCV000502965] Chr8:119732046 [GRCh38]
Chr8:120744286 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_003184.4(TAF2):c.1551G>A (p.Pro517=) single nucleotide variant not provided [RCV000952933]|not specified [RCV000500761] Chr8:119789609 [GRCh38]
Chr8:120801849 [GRCh37]
Chr8:8q24.12
likely benign
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120582871-120958270)x3 copy number gain not provided [RCV000747800] Chr8:120582871..120958270 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.2878+7G>C single nucleotide variant not provided [RCV000979704] Chr8:119755999 [GRCh38]
Chr8:120768239 [GRCh37]
Chr8:8q24.12
likely benign
NM_003184.4(TAF2):c.369T>C (p.Asn123=) single nucleotide variant not provided [RCV000983074] Chr8:119806332 [GRCh38]
Chr8:120818572 [GRCh37]
Chr8:8q24.12
likely benign
NM_003184.4(TAF2):c.2868T>C (p.Leu956=) single nucleotide variant not provided [RCV000883877] Chr8:119756016 [GRCh38]
Chr8:120768256 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.1340= (p.Ser447=) variation not provided [RCV000948520] Chr8:119791397 [GRCh38]
Chr8:120803637 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.726A>G (p.Thr242=) single nucleotide variant not provided [RCV000922241] Chr8:119801860 [GRCh38]
Chr8:120814100 [GRCh37]
Chr8:8q24.12
likely benign
NM_003184.4(TAF2):c.2214A>G (p.Thr738=) single nucleotide variant not provided [RCV000947129] Chr8:119781092 [GRCh38]
Chr8:120793332 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.2181T>C (p.Phe727=) single nucleotide variant not provided [RCV000932833] Chr8:119781125 [GRCh38]
Chr8:120793365 [GRCh37]
Chr8:8q24.12
likely benign
NM_003184.4(TAF2):c.3570G>A (p.Arg1190=) single nucleotide variant not provided [RCV000969544] Chr8:119731954 [GRCh38]
Chr8:120744194 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.3516C>T (p.Asp1172=) single nucleotide variant not provided [RCV000922642] Chr8:119732008 [GRCh38]
Chr8:120744248 [GRCh37]
Chr8:8q24.12
likely benign
GRCh37/hg19 8q24.12(chr8:120572884-120976352)x3 copy number gain not provided [RCV000849946] Chr8:120572884..120976352 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) single nucleotide variant Mental retardation, autosomal recessive 40 [RCV000824867] Chr8:119762442 [GRCh38]
Chr8:120774682 [GRCh37]
Chr8:8q24.12
likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q24.12(chr8:120577149-120973977)x3 copy number gain not provided [RCV001006139] Chr8:120577149..120973977 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_003184.4(TAF2):c.2991T>C (p.Asn997=) single nucleotide variant not provided [RCV000969545] Chr8:119746822 [GRCh38]
Chr8:120759062 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.1684-5A>T single nucleotide variant not provided [RCV000952932] Chr8:119788452 [GRCh38]
Chr8:120800692 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.494G>A (p.Ser165Asn) single nucleotide variant not provided [RCV000892871] Chr8:119803944 [GRCh38]
Chr8:120816184 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.2091A>C (p.Ser697=) single nucleotide variant not provided [RCV000956668] Chr8:119783402 [GRCh38]
Chr8:120795642 [GRCh37]
Chr8:8q24.12
benign
NM_003184.4(TAF2):c.402A>G (p.Leu134=) single nucleotide variant not provided [RCV000911519] Chr8:119806299 [GRCh38]
Chr8:120818539 [GRCh37]
Chr8:8q24.12
likely benign
NM_003184.4(TAF2):c.2945G>C (p.Ser982Thr) single nucleotide variant Microcephaly [RCV001252786] Chr8:119746868 [GRCh38]
Chr8:120759108 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
NM_003184.4(TAF2):c.83+3A>G single nucleotide variant Mental retardation, autosomal recessive 40 [RCV001332239] Chr8:119832479 [GRCh38]
Chr8:120844719 [GRCh37]
Chr8:8q24.12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11536 AgrOrtholog
COSMIC TAF2 COSMIC
Ensembl Genes ENSG00000064313 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367406 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428484 UniProtKB/TrEMBL
  ENSP00000428690 UniProtKB/TrEMBL
  ENSP00000430832 UniProtKB/TrEMBL
  ENSP00000436750 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378164 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521007 UniProtKB/TrEMBL
  ENST00000523098 UniProtKB/TrEMBL
  ENST00000523904 UniProtKB/TrEMBL
  ENST00000529653 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064313 GTEx
HGNC ID HGNC:11536 ENTREZGENE
Human Proteome Map TAF2 Human Proteome Map
InterPro Aminopeptidase_N-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6873 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6873 ENTREZGENE
OMIM 604912 OMIM
  615599 OMIM
PANTHER PTHR15137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36311 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63737 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9E6 ENTREZGENE, UniProtKB/TrEMBL
  B3KMD8_HUMAN UniProtKB/TrEMBL
  E5RI28_HUMAN UniProtKB/TrEMBL
  H0YB55_HUMAN UniProtKB/TrEMBL
  H0YC37_HUMAN UniProtKB/TrEMBL
  H0YEX2_HUMAN UniProtKB/TrEMBL
  Q6P1X5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RE82 UniProtKB/Swiss-Prot
  O43487 UniProtKB/Swiss-Prot
  O43604 UniProtKB/Swiss-Prot
  O60668 UniProtKB/Swiss-Prot
  Q86WW7 UniProtKB/Swiss-Prot
  Q8IWK4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TAF2  TATA-box binding protein associated factor 2  TAF2  TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa  Symbol and/or name change 5135510 APPROVED