KHDRBS3 (KH RNA binding domain containing, signal transduction associated 3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: KHDRBS3 (KH RNA binding domain containing, signal transduction associated 3) Homo sapiens
Analyze
Symbol: KHDRBS3
Name: KH RNA binding domain containing, signal transduction associated 3
RGD ID: 1354239
HGNC Page HGNC
Description: Exhibits RNA binding activity; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome and spermatogenesis. Localizes to nucleoplasm and protein-containing complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: Etle; etoile; KH domain containing, RNA binding, signal transduction associated 3; KH domain-containing, RNA-binding, signal transduction-associated protein 3; RNA-binding protein T-Star; SALP; sam68-like mammalian protein 2; Sam68-like phosphotyrosine protein, T-STAR; SLM-2; SLM2; T-STAR; TSTAR
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 Ensembl8135,457,456 - 135,656,722 (+)EnsemblGRCh38hg38GRCh38
GRCh388135,457,456 - 135,656,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378136,469,699 - 136,659,853 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368136,538,898 - 136,729,031 (+)NCBINCBI36hg18NCBI36
Build 348136,538,897 - 136,729,028NCBI
Celera8132,642,482 - 132,831,891 (+)NCBI
Cytogenetic Map8q24.23NCBI
HuRef8131,785,096 - 131,974,740 (+)NCBIHuRef
CHM1_18136,511,650 - 136,701,604 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA,IMP,ISO)
protein-containing complex  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:10077576   PMID:10332027   PMID:10564820   PMID:10749975   PMID:11118435   PMID:11463515   PMID:11714634   PMID:11741900   PMID:12477932   PMID:12529443   PMID:12921630   PMID:15163637  
PMID:15489334   PMID:15901763   PMID:16169070   PMID:16189514   PMID:16474851   PMID:16712791   PMID:16810759   PMID:17081983   PMID:17643375   PMID:18029348   PMID:18624398   PMID:18976975  
PMID:19091369   PMID:19254361   PMID:19447967   PMID:19561594   PMID:19584924   PMID:20195357   PMID:21078624   PMID:21725612   PMID:21873635   PMID:21988832   PMID:22365833   PMID:22681889  
PMID:23208506   PMID:23333304   PMID:23923007   PMID:24457600   PMID:25416956   PMID:25515538   PMID:25693804   PMID:25910212   PMID:26344197   PMID:26758068   PMID:26777405   PMID:26871637  
PMID:26885983   PMID:27107014   PMID:27503909   PMID:28514442   PMID:28871947   PMID:29298432   PMID:29356399   PMID:29395067   PMID:29507755   PMID:30629181   PMID:30745168   PMID:31343991  
PMID:31586073   PMID:32296183   PMID:33046798   PMID:33423358  


Genomics

Comparative Map Data
KHDRBS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8135,457,456 - 135,656,722 (+)EnsemblGRCh38hg38GRCh38
GRCh388135,457,456 - 135,656,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378136,469,699 - 136,659,853 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368136,538,898 - 136,729,031 (+)NCBINCBI36hg18NCBI36
Build 348136,538,897 - 136,729,028NCBI
Celera8132,642,482 - 132,831,891 (+)NCBI
Cytogenetic Map8q24.23NCBI
HuRef8131,785,096 - 131,974,740 (+)NCBIHuRef
CHM1_18136,511,650 - 136,701,604 (+)NCBICHM1_1
Khdrbs3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391568,800,155 - 68,973,643 (+)NCBIGRCm39mm39
GRCm39 Ensembl1568,800,269 - 68,973,060 (+)Ensembl
GRCm381568,928,392 - 69,101,794 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1568,928,420 - 69,101,211 (+)EnsemblGRCm38mm10GRCm38
MGSCv371568,758,850 - 68,923,949 (+)NCBIGRCm37mm9NCBIm37
MGSCv361568,758,089 - 68,923,188 (+)NCBImm8
Celera1570,448,119 - 70,614,372 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1530.36NCBI
Khdrbs3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27100,837,707 - 100,995,644 (+)NCBI
Rnor_6.0 Ensembl7110,031,696 - 110,179,468 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07110,031,819 - 110,179,475 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07109,965,269 - 110,111,230 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47106,539,015 - 106,614,745 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17106,573,244 - 106,648,972 (+)NCBI
Celera797,331,783 - 97,474,062 (+)NCBICelera
Cytogenetic Map7q34NCBI
Khdrbs3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554619,751,057 - 9,915,943 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554619,751,057 - 9,926,211 (+)NCBIChiLan1.0ChiLan1.0
KHDRBS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18135,084,505 - 135,282,770 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8135,084,505 - 135,282,766 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08132,131,953 - 132,331,310 (+)NCBIMhudiblu_PPA_v0panPan3
KHDRBS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11331,397,501 - 31,583,198 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1331,392,842 - 31,605,257 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1331,374,685 - 31,559,991 (+)NCBI
ROS_Cfam_1.01331,768,586 - 31,954,402 (+)NCBI
UMICH_Zoey_3.11331,490,283 - 31,675,703 (+)NCBI
UNSW_CanFamBas_1.01331,584,104 - 31,769,857 (+)NCBI
UU_Cfam_GSD_1.01331,934,428 - 32,120,024 (+)NCBI
Khdrbs3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053036,806,218 - 6,977,811 (-)NCBI
SpeTri2.0NW_00493647014,232,114 - 14,403,910 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KHDRBS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl46,282,075 - 6,446,390 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.146,289,577 - 6,446,494 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.246,127,960 - 6,284,514 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KHDRBS3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18129,814,228 - 130,044,479 (+)NCBI
ChlSab1.1 Ensembl8129,911,686 - 130,035,258 (+)Ensembl
Khdrbs3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473520,415,996 - 20,586,632 (-)NCBI

Position Markers
WI-16773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378136,476,457 - 136,476,584UniSTSGRCh37
Build 368136,545,639 - 136,545,766RGDNCBI36
Celera8132,649,223 - 132,649,350RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,791,502 - 131,791,629UniSTS
GeneMap99-GB4 RH Map8517.99UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81556.7UniSTS
SHGC-77960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378136,484,891 - 136,485,167UniSTSGRCh37
Build 368136,554,073 - 136,554,349RGDNCBI36
Celera8132,657,632 - 132,657,908RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,799,911 - 131,800,187UniSTS
TNG Radiation Hybrid Map866537.0UniSTS
G64006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378136,603,738 - 136,603,818UniSTSGRCh37
Build 368136,672,920 - 136,673,000RGDNCBI36
Celera8132,776,372 - 132,776,452RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,918,671 - 131,918,751UniSTS
SHGC-104658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378136,585,092 - 136,585,421UniSTSGRCh37
Build 368136,654,274 - 136,654,603RGDNCBI36
Celera8132,757,920 - 132,758,249RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,900,066 - 131,900,395UniSTS
TNG Radiation Hybrid Map866610.0UniSTS
G64208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378136,530,914 - 136,531,025UniSTSGRCh37
Build 368136,600,096 - 136,600,207RGDNCBI36
Celera8132,703,663 - 132,703,774RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,845,924 - 131,846,035UniSTS
D8S2049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378136,574,064 - 136,574,388UniSTSGRCh37
Build 368136,643,246 - 136,643,570RGDNCBI36
Celera8132,746,892 - 132,747,216RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,889,038 - 131,889,362UniSTS
TNG Radiation Hybrid Map866591.0UniSTS
Stanford-G3 RH Map84278.0UniSTS
NCBI RH Map81553.9UniSTS
SGC30203  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera8132,831,448 - 132,831,548RGD
Cytogenetic Map8q24.2UniSTS
HuRef8131,974,297 - 131,974,397UniSTS
GeneMap99-GB4 RH Map8517.79UniSTS
Whitehead-RH Map8680.0UniSTS
NCBI RH Map81547.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1794
Count of miRNA genes:707
Interacting mature miRNAs:813
Transcripts:ENST00000355849, ENST00000517394, ENST00000517859, ENST00000518728, ENST00000519600, ENST00000520981, ENST00000521461, ENST00000522079, ENST00000522433, ENST00000522578, ENST00000524199, ENST00000524282
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 adipose tissue appendage entire extraembryonic component
High
Medium 942 1321 159 70 44 15 2590 1095 2528 61 640 381 55 787 1856
Low 1451 943 1552 546 695 439 1760 1086 1174 338 777 1184 109 417 932 3
Below cutoff 25 706 10 5 1036 8 4 10 13 16 30 37 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC040914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF051321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF051322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB155439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355849   ⟹   ENSP00000348108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,457,456 - 135,647,610 (+)Ensembl
RefSeq Acc Id: ENST00000517394   ⟹   ENSP00000430284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,458,707 - 135,557,539 (+)Ensembl
RefSeq Acc Id: ENST00000517859   ⟹   ENSP00000427851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,542,674 - 135,647,419 (+)Ensembl
RefSeq Acc Id: ENST00000518728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,606,956 - 135,647,258 (+)Ensembl
RefSeq Acc Id: ENST00000519600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,538,534 - 135,549,982 (+)Ensembl
RefSeq Acc Id: ENST00000520981   ⟹   ENSP00000428607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,458,547 - 135,647,610 (+)Ensembl
RefSeq Acc Id: ENST00000521461   ⟹   ENSP00000428643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,607,010 - 135,656,722 (+)Ensembl
RefSeq Acc Id: ENST00000522079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,557,456 - 135,656,467 (+)Ensembl
RefSeq Acc Id: ENST00000522433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,593,331 - 135,647,184 (+)Ensembl
RefSeq Acc Id: ENST00000522578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,647,735 - 135,656,513 (+)Ensembl
RefSeq Acc Id: ENST00000524199   ⟹   ENSP00000431022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,458,087 - 135,607,027 (+)Ensembl
RefSeq Acc Id: ENST00000524282   ⟹   ENSP00000427841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8135,542,703 - 135,647,026 (+)Ensembl
RefSeq Acc Id: NM_006558   ⟹   NP_006549
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,456 - 135,647,610 (+)NCBI
GRCh378136,469,702 - 136,669,068 (+)NCBI
Build 368136,538,898 - 136,729,031 (+)NCBI Archive
HuRef8131,785,096 - 131,974,740 (+)ENTREZGENE
CHM1_18136,511,650 - 136,701,604 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250757   ⟹   XP_005250814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,458,000 - 135,647,606 (+)NCBI
GRCh378136,469,702 - 136,669,068 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250758   ⟹   XP_005250815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,647,606 (+)NCBI
GRCh378136,469,702 - 136,669,068 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516796   ⟹   XP_011515098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,463,644 - 135,647,606 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516797   ⟹   XP_011515099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,458,544 - 135,647,606 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516798   ⟹   XP_011515100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,647,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516799   ⟹   XP_011515101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,561,173 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447052   ⟹   XP_024302820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,458,002 - 135,647,606 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447053   ⟹   XP_024302821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,521,237 - 135,647,606 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745455
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,649,924 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745456
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,458,544 - 135,656,516 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745457
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,947 - 135,656,516 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745458
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,656,516 (+)NCBI
Sequence:
RefSeq Acc Id: XR_242372
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,656,516 (+)NCBI
GRCh378136,469,702 - 136,669,068 (+)NCBI
Sequence:
RefSeq Acc Id: XR_242374
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,647,606 (+)NCBI
GRCh378136,469,702 - 136,669,068 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928287
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,461 - 135,656,516 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006549   ⟸   NM_006558
- UniProtKB: O75525 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250815   ⟸   XM_005250758
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005250814   ⟸   XM_005250757
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515100   ⟸   XM_011516798
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515101   ⟸   XM_011516799
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011515099   ⟸   XM_011516797
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515098   ⟸   XM_011516796
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024302820   ⟸   XM_024447052
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024302821   ⟸   XM_024447053
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000430284   ⟸   ENST00000517394
RefSeq Acc Id: ENSP00000427851   ⟸   ENST00000517859
RefSeq Acc Id: ENSP00000428607   ⟸   ENST00000520981
RefSeq Acc Id: ENSP00000428643   ⟸   ENST00000521461
RefSeq Acc Id: ENSP00000427841   ⟸   ENST00000524282
RefSeq Acc Id: ENSP00000431022   ⟸   ENST00000524199
RefSeq Acc Id: ENSP00000348108   ⟸   ENST00000355849
Protein Domains
KH   Qua1   Sam68-YY

Promoters
RGD ID:7214235
Promoter ID:EPDNEW_H12863
Type:initiation region
Name:KHDRBS3_1
Description:KH RNA binding domain containing, signal transduction associated3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388135,457,456 - 135,457,516EPDNEW
RGD ID:6806821
Promoter ID:HG_KWN:62166
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000395313,   NM_006558,   UC003YUW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368136,538,586 - 136,539,086 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
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 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_006558.2(KHDRBS3):c.89-25198C>A single nucleotide variant Lung cancer [RCV000107081] Chr8:135496039 [GRCh38]
Chr8:136508282 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_006558.2(KHDRBS3):c.472-652G>A single nucleotide variant Lung cancer [RCV000107082] Chr8:135556796 [GRCh38]
Chr8:136569039 [GRCh37]
Chr8:8q24.23
uncertain significance
NM_006558.2(KHDRBS3):c.808-10694A>G single nucleotide variant Lung cancer [RCV000107083] Chr8:135596261 [GRCh38]
Chr8:136608504 [GRCh37]
Chr8:8q24.23
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
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 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 8q24.22-24.23(chr8:134886375-135796966)x3 copy number gain See cases [RCV000137501] Chr8:134886375..135796966 [GRCh38]
Chr8:135898618..136809209 [GRCh37]
Chr8:135967800..136878391 [NCBI36]
Chr8:8q24.22-24.23
likely benign
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 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 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 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 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 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
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
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
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 8q24.22-24.23(chr8:136253772-136944174)x3 copy number gain See cases [RCV000511940] Chr8:136253772..136944174 [GRCh37]
Chr8:8q24.22-24.23
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23(chr8:136482322-138418828)x3 copy number gain not provided [RCV000683015] Chr8:136482322..138418828 [GRCh37]
Chr8:8q24.23
likely benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
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 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8q24.23(chr8:136469382-136470296)x1 copy number loss not provided [RCV000747868] Chr8:136469382..136470296 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.23(chr8:136469382-136475038)x1 copy number loss not provided [RCV000747869] Chr8:136469382..136475038 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.23(chr8:136469485-136475038)x1 copy number loss not provided [RCV000747870] Chr8:136469485..136475038 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.23(chr8:136623154-136636759)x1 copy number loss not provided [RCV000747871] Chr8:136623154..136636759 [GRCh37]
Chr8:8q24.23
benign
GRCh37/hg19 8q24.23(chr8:136623154-136637530)x1 copy number loss not provided [RCV000747872] Chr8:136623154..136637530 [GRCh37]
Chr8:8q24.23
benign
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 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23(chr8:136448455-137011634)x3 copy number gain not provided [RCV001259031] Chr8:136448455..137011634 [GRCh37]
Chr8:8q24.23
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18117 AgrOrtholog
COSMIC KHDRBS3 COSMIC
Ensembl Genes ENSG00000131773 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427841 UniProtKB/TrEMBL
  ENSP00000427851 UniProtKB/TrEMBL
  ENSP00000428607 UniProtKB/TrEMBL
  ENSP00000428643 UniProtKB/TrEMBL
  ENSP00000430284 UniProtKB/TrEMBL
  ENSP00000431022 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517394 UniProtKB/TrEMBL
  ENST00000517859 UniProtKB/TrEMBL
  ENST00000520981 UniProtKB/TrEMBL
  ENST00000521461 UniProtKB/TrEMBL
  ENST00000524199 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000524282 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1370.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131773 GTEx
HGNC ID HGNC:18117 ENTREZGENE
Human Proteome Map KHDRBS3 Human Proteome Map
InterPro KH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom_type_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom_type_1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Qua1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sam68-YY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10656 UniProtKB/Swiss-Prot
NCBI Gene 10656 ENTREZGENE
OMIM 610421 OMIM
Pfam KH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Qua1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sam68-YY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KHDRBS3 RGD, PharmGKB
SMART SM00322 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54791 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RG12_HUMAN UniProtKB/TrEMBL
  E5RHD3_HUMAN UniProtKB/TrEMBL
  E5RJZ9_HUMAN UniProtKB/TrEMBL
  H0YAQ1_HUMAN UniProtKB/TrEMBL
  H0YAQ3_HUMAN UniProtKB/TrEMBL
  H0YB45_HUMAN UniProtKB/TrEMBL
  KHDR3_HUMAN UniProtKB/Swiss-Prot
  L8EAJ0_HUMAN UniProtKB/TrEMBL
  L8EC47_HUMAN UniProtKB/TrEMBL
  O75525 ENTREZGENE
UniProt Secondary Q6NUL8 UniProtKB/Swiss-Prot
  Q9UPA8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 KHDRBS3  KH RNA binding domain containing, signal transduction associated 3    KH domain containing, RNA binding, signal transduction associated 3  Symbol and/or name change 5135510 APPROVED