ELF2 (E74 like ETS transcription factor 2) - Rat Genome Database

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Gene: ELF2 (E74 like ETS transcription factor 2) Homo sapiens
Analyze
Symbol: ELF2
Name: E74 like ETS transcription factor 2
RGD ID: 1321579
HGNC Page HGNC:3317
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: E74-like factor 2 (ets domain transcription factor); ets family transcription factor ELF2C; ETS-related transcription factor Elf-2; EU32; NERF; NERF-1A; NERF-1a,b; NERF-1B; NERF-2; new Ets-related factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ELF2P1   ELF2P2   ELF2P3   ELF2P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384139,057,220 - 139,177,915 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4139,028,112 - 139,177,218 (-)EnsemblGRCh38hg38GRCh38
GRCh374139,978,374 - 140,098,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364140,198,321 - 140,280,056 (-)NCBINCBI36Build 36hg18NCBI36
Celera4137,311,010 - 137,392,749 (-)NCBICelera
Cytogenetic Map4q31.1NCBI
HuRef4135,708,471 - 135,790,221 (-)NCBIHuRef
CHM1_14139,956,156 - 140,037,895 (-)NCBICHM1_1
T2T-CHM13v2.04142,376,821 - 142,496,827 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8756667   PMID:9001422   PMID:10207087   PMID:11967990   PMID:12447867   PMID:12477932   PMID:14970218   PMID:15302935   PMID:15489334   PMID:16344560   PMID:17290288   PMID:17368566  
PMID:18029348   PMID:18544453   PMID:18754678   PMID:19274049   PMID:19322201   PMID:19674970   PMID:20211142   PMID:20805357   PMID:21832049   PMID:21873635   PMID:24992036   PMID:25281560  
PMID:26186194   PMID:26638075   PMID:26912792   PMID:26968954   PMID:28473536   PMID:28514442   PMID:28728844   PMID:28794006   PMID:29117863   PMID:29509190   PMID:29568061   PMID:29632131  
PMID:30415952   PMID:30804502   PMID:31076518   PMID:32694731   PMID:33640491   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34795231   PMID:35013218   PMID:35140242  


Genomics

Comparative Map Data
ELF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384139,057,220 - 139,177,915 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4139,028,112 - 139,177,218 (-)EnsemblGRCh38hg38GRCh38
GRCh374139,978,374 - 140,098,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364140,198,321 - 140,280,056 (-)NCBINCBI36Build 36hg18NCBI36
Celera4137,311,010 - 137,392,749 (-)NCBICelera
Cytogenetic Map4q31.1NCBI
HuRef4135,708,471 - 135,790,221 (-)NCBIHuRef
CHM1_14139,956,156 - 140,037,895 (-)NCBICHM1_1
T2T-CHM13v2.04142,376,821 - 142,496,827 (-)NCBIT2T-CHM13v2.0
Elf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39351,160,141 - 51,248,101 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl351,160,141 - 51,248,084 (-)EnsemblGRCm39 Ensembl
GRCm38351,252,720 - 51,340,683 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl351,252,720 - 51,340,663 (-)EnsemblGRCm38mm10GRCm38
MGSCv37351,059,587 - 51,129,909 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36351,343,594 - 51,413,916 (-)NCBIMGSCv36mm8
Celera350,982,584 - 51,052,955 (-)NCBICelera
Cytogenetic Map3CNCBI
Elf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22135,292,291 - 135,385,942 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2135,294,906 - 135,385,947 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2141,870,813 - 141,947,955 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02139,983,077 - 140,060,217 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02134,614,651 - 134,691,358 (-)NCBIRnor_WKY
Rnor_6.02140,310,374 - 140,399,312 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2140,310,375 - 140,387,505 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02159,783,379 - 159,874,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42140,144,023 - 140,221,693 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12140,094,451 - 140,118,284 (-)NCBI
Celera2129,790,803 - 129,867,968 (-)NCBICelera
Cytogenetic Map2q26NCBI
Elf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554284,479,913 - 4,550,783 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554284,458,962 - 4,550,783 (+)NCBIChiLan1.0ChiLan1.0
ELF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14142,731,593 - 142,849,724 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4142,731,593 - 142,850,778 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04131,420,985 - 131,540,691 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ELF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,482,845 - 3,580,380 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,483,542 - 3,578,870 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,732,540 - 3,829,953 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0193,554,883 - 3,652,407 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl193,554,927 - 3,652,539 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,486,642 - 3,584,012 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,848,507 - 3,945,899 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0194,211,985 - 4,309,669 (+)NCBIUU_Cfam_GSD_1.0
Elf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530150,966,127 - 51,059,078 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365358,426,550 - 8,496,129 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl887,854,699 - 87,878,662 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1887,774,594 - 87,878,847 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2893,470,166 - 93,472,862 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ELF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1786,030,222 - 86,147,150 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl786,029,653 - 86,147,309 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603765,536,710 - 65,661,619 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Elf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477719,390,660 - 19,464,195 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477719,393,003 - 19,493,038 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
D2S1238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,679,737 - 174,680,024UniSTSGRCh37
GRCh374140,049,358 - 140,050,730UniSTSGRCh37
Celera4137,381,505 - 137,382,877UniSTS
Celera2168,293,081 - 168,293,348UniSTS
Cytogenetic Map4q28UniSTS
HuRef2166,559,318 - 166,559,613UniSTS
HuRef4135,778,966 - 135,780,337UniSTS
Marshfield Genetic Map2177.53UniSTS
Marshfield Genetic Map2177.53RGD
RH91402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374139,986,254 - 139,986,373UniSTSGRCh37
Build 364140,205,704 - 140,205,823RGDNCBI36
Celera4137,318,392 - 137,318,511RGD
Cytogenetic Map4q28UniSTS
HuRef4135,715,852 - 135,715,971UniSTS
GeneMap99-GB4 RH Map4606.72UniSTS
SHGC-67356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374139,979,054 - 139,979,297UniSTSGRCh37
Build 364140,198,504 - 140,198,747RGDNCBI36
Celera4137,311,193 - 137,311,436RGD
Cytogenetic Map4q28UniSTS
HuRef4135,708,654 - 135,708,897UniSTS
TNG Radiation Hybrid Map484616.0UniSTS
GeneMap99-GB4 RH Map4615.56UniSTS
RH93045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374140,006,352 - 140,006,460UniSTSGRCh37
Build 364140,225,802 - 140,225,910RGDNCBI36
Celera4137,338,485 - 137,338,593RGD
Cytogenetic Map4q28UniSTS
HuRef4135,735,944 - 135,736,052UniSTS
GeneMap99-GB4 RH Map4608.42UniSTS
SHGC-149560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3761,514,663 - 1,514,967UniSTSGRCh37
GRCh374139,981,587 - 139,983,083UniSTSGRCh37
Build 3661,459,662 - 1,459,966RGDNCBI36
Celera4137,313,725 - 137,315,221UniSTS
Celera62,743,407 - 2,743,711RGD
Cytogenetic Map4q28UniSTS
Cytogenetic Map6p25.3UniSTS
HuRef61,384,589 - 1,384,893UniSTS
HuRef4135,711,185 - 135,712,681UniSTS
TNG Radiation Hybrid Map6812.0UniSTS
RH18408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374139,987,291 - 139,987,443UniSTSGRCh37
Build 364140,206,741 - 140,206,893RGDNCBI36
Celera4137,319,423 - 137,319,575RGD
Cytogenetic Map4q28UniSTS
HuRef4135,716,883 - 135,717,035UniSTS
GeneMap99-GB4 RH Map4608.26UniSTS
SHGC-67623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374139,987,283 - 139,987,415UniSTSGRCh37
Build 364140,206,733 - 140,206,865RGDNCBI36
Celera4137,319,415 - 137,319,547RGD
Cytogenetic Map4q28UniSTS
HuRef4135,716,875 - 135,717,007UniSTS
GeneMap99-GB4 RH Map4607.64UniSTS
ELF2__7580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3761,513,222 - 1,513,964UniSTSGRCh37
GRCh374139,979,405 - 139,980,168UniSTSGRCh37
Build 364140,198,855 - 140,199,618RGDNCBI36
Celera4137,311,544 - 137,312,306RGD
Celera62,741,966 - 2,742,708UniSTS
HuRef4135,709,005 - 135,709,766UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3101
Count of miRNA genes:954
Interacting mature miRNAs:1132
Transcripts:ENST00000265495, ENST00000358635, ENST00000379549, ENST00000379550, ENST00000394235, ENST00000420916, ENST00000504314, ENST00000510408, ENST00000511006, ENST00000511184, ENST00000512627, ENST00000514577, ENST00000514606, ENST00000515489
Prediction methods:Microtar, Miranda, Rnahybrid
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 2045 1751 1114 210 1192 56 3836 1354 1827 188 1368 1499 161 1178 2351 4
Low 394 1239 612 414 758 409 520 843 1907 231 92 114 14 1 26 437 2 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001276457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC024032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF256221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF256222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF256223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI770157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ221720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU621268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA221737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ359746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN626691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN626692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358635   ⟹   ENSP00000351458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,057,855 - 139,084,496 (-)Ensembl
RefSeq Acc Id: ENST00000379549   ⟹   ENSP00000368867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,057,879 - 139,084,337 (-)Ensembl
RefSeq Acc Id: ENST00000379550   ⟹   ENSP00000368868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,057,717 - 139,139,476 (-)Ensembl
RefSeq Acc Id: ENST00000394235   ⟹   ENSP00000377782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,057,220 - 139,177,218 (-)Ensembl
RefSeq Acc Id: ENST00000504314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,061,937 - 139,072,220 (-)Ensembl
RefSeq Acc Id: ENST00000510408   ⟹   ENSP00000426997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,058,719 - 139,084,325 (-)Ensembl
RefSeq Acc Id: ENST00000511006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,136,771 - 139,177,218 (-)Ensembl
RefSeq Acc Id: ENST00000511184   ⟹   ENSP00000421278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,101,591 - 139,177,199 (-)Ensembl
RefSeq Acc Id: ENST00000512627   ⟹   ENSP00000426087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,060,601 - 139,084,224 (-)Ensembl
RefSeq Acc Id: ENST00000514577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,061,867 - 139,073,719 (-)Ensembl
RefSeq Acc Id: ENST00000514606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,066,010 - 139,084,338 (-)Ensembl
RefSeq Acc Id: ENST00000515489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,028,112 - 139,060,595 (-)Ensembl
RefSeq Acc Id: ENST00000686138   ⟹   ENSP00000510098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4139,057,265 - 139,177,218 (-)Ensembl
RefSeq Acc Id: NM_001276457   ⟹   NP_001263386
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,265 - 139,084,224 (-)NCBI
GRCh374139,978,871 - 140,098,372 (-)NCBI
HuRef4135,708,471 - 135,790,221 (-)NCBI
CHM1_14139,956,156 - 139,982,846 (-)NCBI
T2T-CHM13v2.04142,376,866 - 142,403,819 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001276458   ⟹   NP_001263387
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,265 - 139,084,224 (-)NCBI
GRCh374139,978,871 - 140,098,372 (-)NCBI
HuRef4135,708,471 - 135,790,221 (-)NCBI
CHM1_14139,956,156 - 139,982,846 (-)NCBI
T2T-CHM13v2.04142,376,866 - 142,403,819 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001276459   ⟹   NP_001263388
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,265 - 139,084,224 (-)NCBI
GRCh374139,978,871 - 140,098,372 (-)NCBI
HuRef4135,708,471 - 135,790,221 (-)NCBI
CHM1_14139,956,156 - 139,982,846 (-)NCBI
T2T-CHM13v2.04142,376,866 - 142,403,819 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331036   ⟹   NP_001317965
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,265 - 139,177,218 (-)NCBI
T2T-CHM13v2.04142,376,866 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371324   ⟹   NP_001358253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,225 - 139,177,218 (-)NCBI
T2T-CHM13v2.04142,376,826 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371336   ⟹   NP_001358265
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,225 - 139,177,218 (-)NCBI
T2T-CHM13v2.04142,376,826 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371337   ⟹   NP_001358266
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,225 - 139,177,218 (-)NCBI
T2T-CHM13v2.04142,376,826 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371338   ⟹   NP_001358267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,225 - 139,177,218 (-)NCBI
T2T-CHM13v2.04142,376,826 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371339   ⟹   NP_001358268
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,225 - 139,177,218 (-)NCBI
T2T-CHM13v2.04142,376,826 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006874   ⟹   NP_006865
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,265 - 139,084,224 (-)NCBI
GRCh374139,978,871 - 140,098,372 (-)NCBI
Build 364140,198,321 - 140,225,097 (-)NCBI Archive
Celera4137,311,010 - 137,392,749 (-)RGD
HuRef4135,708,471 - 135,790,221 (-)NCBI
CHM1_14139,956,156 - 139,982,846 (-)NCBI
T2T-CHM13v2.04142,376,866 - 142,403,819 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201999   ⟹   NP_973728
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,177,218 (-)NCBI
GRCh374139,978,871 - 140,098,372 (-)NCBI
Build 364140,198,321 - 140,280,056 (-)NCBI Archive
Celera4137,311,010 - 137,392,749 (-)RGD
HuRef4135,708,471 - 135,790,221 (-)NCBI
CHM1_14139,956,156 - 140,037,895 (-)NCBI
T2T-CHM13v2.04142,376,821 - 142,496,827 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262805   ⟹   XP_005262862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,177,218 (-)NCBI
GRCh374139,978,871 - 140,098,372 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531711   ⟹   XP_011530013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,116,745 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531714   ⟹   XP_011530016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,064,666 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449732   ⟹   XP_047305688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,148,110 (-)NCBI
RefSeq Acc Id: XM_047449733   ⟹   XP_047305689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,177,218 (-)NCBI
RefSeq Acc Id: XM_047449734   ⟹   XP_047305690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,168,856 (-)NCBI
RefSeq Acc Id: XM_047449736   ⟹   XP_047305692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,176,566 (-)NCBI
RefSeq Acc Id: XM_047449737   ⟹   XP_047305693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,177,915 (-)NCBI
RefSeq Acc Id: XM_047449738   ⟹   XP_047305694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,168,856 (-)NCBI
RefSeq Acc Id: XM_047449739   ⟹   XP_047305695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,148,110 (-)NCBI
RefSeq Acc Id: XM_047449740   ⟹   XP_047305696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,177,915 (-)NCBI
RefSeq Acc Id: XM_047449741   ⟹   XP_047305697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,177,915 (-)NCBI
RefSeq Acc Id: XM_047449742   ⟹   XP_047305698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,057,220 - 139,084,224 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001263386 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263387 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263388 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358253 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358267 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358268 (Get FASTA)   NCBI Sequence Viewer  
  NP_006865 (Get FASTA)   NCBI Sequence Viewer  
  NP_973728 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262862 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530013 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530016 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305688 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305689 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305690 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305692 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305693 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305694 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305695 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305696 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305697 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305698 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB37759 (Get FASTA)   NCBI Sequence Viewer  
  AAB37760 (Get FASTA)   NCBI Sequence Viewer  
  AAB37761 (Get FASTA)   NCBI Sequence Viewer  
  AAF67195 (Get FASTA)   NCBI Sequence Viewer  
  AAF67196 (Get FASTA)   NCBI Sequence Viewer  
  AAH34951 (Get FASTA)   NCBI Sequence Viewer  
  AAH65025 (Get FASTA)   NCBI Sequence Viewer  
  ABD15131 (Get FASTA)   NCBI Sequence Viewer  
  BAH13456 (Get FASTA)   NCBI Sequence Viewer  
  BAH14050 (Get FASTA)   NCBI Sequence Viewer  
  BAH14826 (Get FASTA)   NCBI Sequence Viewer  
  EAX05123 (Get FASTA)   NCBI Sequence Viewer  
  EAX05124 (Get FASTA)   NCBI Sequence Viewer  
  EAX05125 (Get FASTA)   NCBI Sequence Viewer  
  EAX05126 (Get FASTA)   NCBI Sequence Viewer  
  Q15723 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_973728   ⟸   NM_201999
- Peptide Label: isoform 1
- UniProtKB: Q15723 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006865   ⟸   NM_006874
- Peptide Label: isoform 2
- UniProtKB: Q15723 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263388   ⟸   NM_001276459
- Peptide Label: isoform 5
- UniProtKB: Q15723 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263387   ⟸   NM_001276458
- Peptide Label: isoform 4
- UniProtKB: Q15723 (UniProtKB/Swiss-Prot),   B7Z720 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263386   ⟸   NM_001276457
- Peptide Label: isoform 3
- UniProtKB: Q15723 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262862   ⟸   XM_005262805
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011530013   ⟸   XM_011531711
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011530016   ⟸   XM_011531714
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001317965   ⟸   NM_001331036
- Peptide Label: isoform 6
- UniProtKB: Q6P1K5 (UniProtKB/Swiss-Prot),   Q15723 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358265   ⟸   NM_001371336
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001358268   ⟸   NM_001371339
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001358266   ⟸   NM_001371337
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001358267   ⟸   NM_001371338
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001358253   ⟸   NM_001371324
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000368867   ⟸   ENST00000379549
RefSeq Acc Id: ENSP00000368868   ⟸   ENST00000379550
RefSeq Acc Id: ENSP00000426997   ⟸   ENST00000510408
RefSeq Acc Id: ENSP00000421278   ⟸   ENST00000511184
RefSeq Acc Id: ENSP00000426087   ⟸   ENST00000512627
RefSeq Acc Id: ENSP00000377782   ⟸   ENST00000394235
RefSeq Acc Id: ENSP00000351458   ⟸   ENST00000358635
RefSeq Acc Id: ENSP00000510098   ⟸   ENST00000686138
RefSeq Acc Id: XP_047305696   ⟸   XM_047449740
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047305697   ⟸   XM_047449741
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047305693   ⟸   XM_047449737
- Peptide Label: isoform X1
- UniProtKB: Q6P1K5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047305689   ⟸   XM_047449733
- Peptide Label: isoform X1
- UniProtKB: Q6P1K5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047305692   ⟸   XM_047449736
- Peptide Label: isoform X1
- UniProtKB: Q6P1K5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047305694   ⟸   XM_047449738
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047305690   ⟸   XM_047449734
- Peptide Label: isoform X1
- UniProtKB: Q6P1K5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047305695   ⟸   XM_047449739
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047305688   ⟸   XM_047449732
- Peptide Label: isoform X1
- UniProtKB: Q6P1K5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047305698   ⟸   XM_047449742
- Peptide Label: isoform X5
Protein Domains
Elf-1_N   ETS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15723-F1-model_v2 AlphaFold Q15723 1-593 view protein structure

Promoters
RGD ID:6868492
Promoter ID:EPDNEW_H7411
Type:initiation region
Name:ELF2_2
Description:E74 like ETS transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7412  EPDNEW_H7413  EPDNEW_H7414  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,084,322 - 139,084,382EPDNEW
RGD ID:6868494
Promoter ID:EPDNEW_H7412
Type:initiation region
Name:ELF2_4
Description:E74 like ETS transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7411  EPDNEW_H7413  EPDNEW_H7414  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,084,489 - 139,084,549EPDNEW
RGD ID:6868496
Promoter ID:EPDNEW_H7413
Type:initiation region
Name:ELF2_1
Description:E74 like ETS transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7411  EPDNEW_H7412  EPDNEW_H7414  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,177,218 - 139,177,278EPDNEW
RGD ID:6868498
Promoter ID:EPDNEW_H7414
Type:initiation region
Name:ELF2_3
Description:E74 like ETS transcription factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7411  EPDNEW_H7412  EPDNEW_H7413  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384139,177,915 - 139,177,975EPDNEW
RGD ID:6802182
Promoter ID:HG_KWN:49142
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257234,   UC003IHN.1,   UC003IHO.1,   UC010IOH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364140,224,731 - 140,225,231 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 copy number loss See cases [RCV000051056] Chr4:128119872..142431375 [GRCh38]
Chr4:129041027..143352528 [GRCh37]
Chr4:129260477..143571978 [NCBI36]
Chr4:4q28.2-31.21
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1 copy number loss See cases [RCV000054074] Chr4:138370686..139672312 [GRCh38]
Chr4:139291840..140593466 [GRCh37]
Chr4:139511290..140812916 [NCBI36]
Chr4:4q28.3-31.1
uncertain significance
NM_006874.3(ELF2):c.500A>T (p.Tyr167Phe) single nucleotide variant Malignant melanoma [RCV000060916] Chr4:139061991 [GRCh38]
Chr4:139983145 [GRCh37]
Chr4:140202595 [NCBI36]
Chr4:4q31.1
not provided
GRCh38/hg38 4q28.3-31.1(chr4:137507831-139300924)x1 copy number loss See cases [RCV000134850] Chr4:137507831..139300924 [GRCh38]
Chr4:138428985..140222078 [GRCh37]
Chr4:138648435..140441528 [NCBI36]
Chr4:4q28.3-31.1
uncertain significance
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) single nucleotide variant Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [RCV000590991]|not provided [RCV002248725] Chr4:139137692 [GRCh38]
Chr4:140058846 [GRCh37]
Chr4:4q31.1
likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
Single allele deletion not provided [RCV000678021] Chr4:126549693..141313049 [GRCh37]
Chr4:4q28.1-31.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1 copy number loss not provided [RCV000847693] Chr4:134054911..142601496 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1 copy number loss not provided [RCV001005599] Chr4:137901978..141527647 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1 copy number loss not provided [RCV001005600] Chr4:139531815..146095109 [GRCh37]
Chr4:4q31.1-31.21
pathogenic
GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3 copy number gain not provided [RCV001005601] Chr4:140024115..140457430 [GRCh37]
Chr4:4q31.1
likely benign
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1 copy number loss not provided [RCV001833074] Chr4:136529470..141564812 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1 copy number loss not provided [RCV001834392] Chr4:138289049..145923298 [GRCh37]
Chr4:4q28.3-31.21
pathogenic
GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930) copy number gain not specified [RCV002053457] Chr4:136035308..144718930 [GRCh37]
Chr4:4q28.3-31.21
uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3317 AgrOrtholog
COSMIC ELF2 COSMIC
Ensembl Genes ENSG00000109381 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351458 ENTREZGENE
  ENSP00000351458.2 UniProtKB/Swiss-Prot
  ENSP00000368867 ENTREZGENE
  ENSP00000368867.2 UniProtKB/Swiss-Prot
  ENSP00000368868 ENTREZGENE
  ENSP00000368868.1 UniProtKB/Swiss-Prot
  ENSP00000377782 ENTREZGENE
  ENSP00000377782.1 UniProtKB/Swiss-Prot
  ENSP00000421278.1 UniProtKB/TrEMBL
  ENSP00000426087.1 UniProtKB/TrEMBL
  ENSP00000426997 ENTREZGENE
  ENSP00000426997.1 UniProtKB/Swiss-Prot
  ENSP00000510098 ENTREZGENE
  ENSP00000510098.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358635 ENTREZGENE
  ENST00000358635.7 UniProtKB/Swiss-Prot
  ENST00000379549 ENTREZGENE
  ENST00000379549.7 UniProtKB/Swiss-Prot
  ENST00000379550 ENTREZGENE
  ENST00000379550.5 UniProtKB/Swiss-Prot
  ENST00000394235 ENTREZGENE
  ENST00000394235.6 UniProtKB/Swiss-Prot
  ENST00000510408 ENTREZGENE
  ENST00000510408.5 UniProtKB/Swiss-Prot
  ENST00000511184.5 UniProtKB/TrEMBL
  ENST00000512627.1 UniProtKB/TrEMBL
  ENST00000686138 ENTREZGENE
  ENST00000686138.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109381 GTEx
HGNC ID HGNC:3317 ENTREZGENE
Human Proteome Map ELF2 Human Proteome Map
InterPro Ets_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETS_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_Elf_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1998 UniProtKB/Swiss-Prot
NCBI Gene 1998 ENTREZGENE
OMIM 619798 OMIM
PANTHER PTHR11849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Elf-1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ets UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27745 PharmGKB
PRINTS ETSDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ETS_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETS_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETS_DOMAIN_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ETS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z720 ENTREZGENE, UniProtKB/TrEMBL
  D6RGD9_HUMAN UniProtKB/TrEMBL
  D6RHI1_HUMAN UniProtKB/TrEMBL
  ELF2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P1K5 ENTREZGENE
UniProt Secondary E9PCX3 UniProtKB/Swiss-Prot
  Q15724 UniProtKB/Swiss-Prot
  Q15725 UniProtKB/Swiss-Prot
  Q6P1K5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 ELF2  E74 like ETS transcription factor 2    E74-like factor 2 (ets domain transcription factor)  Symbol and/or name change 5135510 APPROVED