EVX2 (even-skipped homeobox 2) - Rat Genome Database

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Gene: EVX2 (even-skipped homeobox 2) Homo sapiens
Analyze
Symbol: EVX2
Name: even-skipped homeobox 2
RGD ID: 1348415
HGNC Page HGNC:3507
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within limb morphogenesis. Predicted to be part of chromatin. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: eve, even-skipped homeo box homolog 2; eve, even-skipped homeo box homolog 2 (drosophila); even-skipped homeo box 2 (homolog of Drosophila eve); EVX-2; homeobox even-skipped homolog protein 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
GRCh382176,077,472 - 176,083,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2176,077,472 - 176,083,962 (-)EnsemblGRCh38hg38GRCh38
GRCh372176,942,200 - 176,948,690 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362176,653,081 - 176,656,936 (-)NCBINCBI36Build 36hg18NCBI36
Celera2170,553,985 - 170,557,840 (-)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2168,822,321 - 168,826,177 (-)NCBIHuRef
CHM1_12176,950,682 - 176,954,537 (-)NCBICHM1_1
T2T-CHM13v2.02176,565,581 - 176,572,075 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (ISA)
nucleus  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1675198   PMID:7581388   PMID:7896287   PMID:10440834   PMID:11060466   PMID:11181995   PMID:11778160   PMID:12136098   PMID:15815621   PMID:18029348   PMID:19274049   PMID:21873635  
PMID:22699663   PMID:28473536   PMID:32296183  


Genomics

Comparative Map Data
EVX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382176,077,472 - 176,083,962 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2176,077,472 - 176,083,962 (-)EnsemblGRCh38hg38GRCh38
GRCh372176,942,200 - 176,948,690 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362176,653,081 - 176,656,936 (-)NCBINCBI36Build 36hg18NCBI36
Celera2170,553,985 - 170,557,840 (-)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2168,822,321 - 168,826,177 (-)NCBIHuRef
CHM1_12176,950,682 - 176,954,537 (-)NCBICHM1_1
T2T-CHM13v2.02176,565,581 - 176,572,075 (-)NCBIT2T-CHM13v2.0
Evx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39274,483,333 - 74,491,864 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl274,483,335 - 74,489,901 (-)EnsemblGRCm39 Ensembl
GRCm38274,652,989 - 74,661,520 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl274,652,991 - 74,659,557 (-)EnsemblGRCm38mm10GRCm38
MGSCv37274,493,673 - 74,497,476 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36274,456,455 - 74,460,258 (-)NCBIMGSCv36mm8
Celera276,325,721 - 76,329,525 (-)NCBICelera
Cytogenetic Map2C3NCBI
cM Map244.13NCBI
Evx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8379,965,630 - 79,969,700 (-)NCBIGRCr8
mRatBN7.2359,558,197 - 59,562,267 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl359,558,197 - 59,561,872 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0361,564,917 - 61,581,598 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl361,578,229 - 61,581,598 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0368,032,231 - 68,048,055 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4357,262,625 - 57,274,916 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1357,166,866 - 57,172,821 (-)NCBI
Celera359,080,928 - 59,084,154 (-)NCBICelera
Cytogenetic Map3q23NCBI
Evx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540320,578,813 - 20,582,409 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540320,578,813 - 20,582,409 (+)NCBIChiLan1.0ChiLan1.0
EVX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21378,745,037 - 78,752,561 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B78,760,013 - 78,767,481 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B63,359,892 - 63,364,762 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B181,069,133 - 181,073,347 (-)NCBIpanpan1.1PanPan1.1panPan2
EVX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13619,887,095 - 19,891,772 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3619,887,524 - 19,891,247 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3619,897,402 - 19,901,132 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03620,028,549 - 20,032,283 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3620,028,549 - 20,032,913 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13620,102,621 - 20,106,351 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03620,103,583 - 20,107,304 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03620,215,301 - 20,219,023 (-)NCBIUU_Cfam_GSD_1.0
Evx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303137,010,758 - 137,017,688 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365095,566,432 - 5,571,005 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365095,566,432 - 5,571,005 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EVX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1581,881,362 - 81,885,193 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11581,881,362 - 81,884,994 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21591,345,989 - 91,354,707 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EVX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11061,650,763 - 61,659,724 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1061,654,829 - 61,658,494 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040137,951,216 - 137,955,814 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Evx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478713,221,382 - 13,224,978 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478713,221,382 - 13,224,989 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EVX2
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 copy number loss See cases [RCV000050765] Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 copy number loss See cases [RCV000052554] Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 copy number loss See cases [RCV000052555] Chr2:173408061..177702487 [GRCh38]
Chr2:174272789..178567215 [GRCh37]
Chr2:173981035..178275461 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1 copy number loss See cases [RCV000137847] Chr2:176075289..176156257 [GRCh38]
Chr2:176940017..177020985 [GRCh37]
Chr2:176648263..176729231 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 copy number loss See cases [RCV000139646] Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 copy number loss See cases [RCV000143597] Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3
pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_001080458.2(EVX2):c.1223C>T (p.Ala408Val) single nucleotide variant Inborn genetic diseases [RCV003269753] Chr2:176080315 [GRCh38]
Chr2:176945043 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1(chr2:175887486-176989647)x1 copy number loss See cases [RCV000515569] Chr2:175887486..176989647 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1 copy number loss not provided [RCV000682153] Chr2:173741558..178416381 [GRCh37]
Chr2:2q31.1-31.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
NM_001080458.2(EVX2):c.358G>T (p.Val120Leu) single nucleotide variant Inborn genetic diseases [RCV003269032] Chr2:176083419 [GRCh38]
Chr2:176948147 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.963C>G (p.Thr321=) single nucleotide variant not provided [RCV000904305] Chr2:176080575 [GRCh38]
Chr2:176945303 [GRCh37]
Chr2:2q31.1
benign
GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259) copy number loss not provided [RCV000767781] Chr2:176794846..178494259 [GRCh37]
Chr2:2q31.1-31.2
pathogenic
NM_001080458.2(EVX2):c.275T>C (p.Ile92Thr) single nucleotide variant Inborn genetic diseases [RCV003247249] Chr2:176083502 [GRCh38]
Chr2:176948230 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1
pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1 copy number loss not provided [RCV000849015] Chr2:176310551..179092634 [GRCh37]
Chr2:2q31.1-31.2
pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_001080458.2(EVX2):c.175C>T (p.His59Tyr) single nucleotide variant Inborn genetic diseases [RCV003246570] Chr2:176083602 [GRCh38]
Chr2:176948330 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3 copy number gain not provided [RCV001825257] Chr2:174673094..177275625 [GRCh37]
Chr2:2q31.1
not provided
Single allele deletion Split hand-foot malformation 5 [RCV002264898] Chr2:171524396..178694337 [GRCh37]
Chr2:2q31.1-31.2
pathogenic
NM_001080458.2(EVX2):c.1304C>T (p.Ser435Leu) single nucleotide variant Inborn genetic diseases [RCV003260279] Chr2:176080234 [GRCh38]
Chr2:176944962 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 copy number loss not provided [RCV002474570] Chr2:175143352..180999636 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
NM_001080458.2(EVX2):c.98G>A (p.Gly33Asp) single nucleotide variant Inborn genetic diseases [RCV002974171]|not provided [RCV003435932] Chr2:176083679 [GRCh38]
Chr2:176948407 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.100A>G (p.Asn34Asp) single nucleotide variant Inborn genetic diseases [RCV002992462] Chr2:176083677 [GRCh38]
Chr2:176948405 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.268T>C (p.Ser90Pro) single nucleotide variant Inborn genetic diseases [RCV002865254] Chr2:176083509 [GRCh38]
Chr2:176948237 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.233A>T (p.Asn78Ile) single nucleotide variant Inborn genetic diseases [RCV002694648] Chr2:176083544 [GRCh38]
Chr2:176948272 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.218T>G (p.Ile73Arg) single nucleotide variant Inborn genetic diseases [RCV002998200] Chr2:176083559 [GRCh38]
Chr2:176948287 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.7G>C (p.Glu3Gln) single nucleotide variant Inborn genetic diseases [RCV002844490] Chr2:176083770 [GRCh38]
Chr2:176948498 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.41G>C (p.Arg14Thr) single nucleotide variant Inborn genetic diseases [RCV002830365] Chr2:176083736 [GRCh38]
Chr2:176948464 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.92C>T (p.Ser31Leu) single nucleotide variant Inborn genetic diseases [RCV002804257] Chr2:176083685 [GRCh38]
Chr2:176948413 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1157C>T (p.Pro386Leu) single nucleotide variant Inborn genetic diseases [RCV002964715] Chr2:176080381 [GRCh38]
Chr2:176945109 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1307A>G (p.Asp436Gly) single nucleotide variant Inborn genetic diseases [RCV002792618] Chr2:176080231 [GRCh38]
Chr2:176944959 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.578C>T (p.Thr193Met) single nucleotide variant Inborn genetic diseases [RCV002836278] Chr2:176082299 [GRCh38]
Chr2:176947027 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.476G>A (p.Gly159Asp) single nucleotide variant Inborn genetic diseases [RCV002746900] Chr2:176082401 [GRCh38]
Chr2:176947129 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1315T>C (p.Cys439Arg) single nucleotide variant Inborn genetic diseases [RCV002657480] Chr2:176080223 [GRCh38]
Chr2:176944951 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1408G>A (p.Asp470Asn) single nucleotide variant Inborn genetic diseases [RCV003299444] Chr2:176080130 [GRCh38]
Chr2:176944858 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1339G>A (p.Glu447Lys) single nucleotide variant Inborn genetic diseases [RCV003218267] Chr2:176080199 [GRCh38]
Chr2:176944927 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1355C>G (p.Pro452Arg) single nucleotide variant Inborn genetic diseases [RCV003213274] Chr2:176080183 [GRCh38]
Chr2:176944911 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.115G>C (p.Ala39Pro) single nucleotide variant Inborn genetic diseases [RCV003210202] Chr2:176083662 [GRCh38]
Chr2:176948390 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.11G>T (p.Arg4Ile) single nucleotide variant Inborn genetic diseases [RCV003285950] Chr2:176083766 [GRCh38]
Chr2:176948494 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1204G>A (p.Ala402Thr) single nucleotide variant Inborn genetic diseases [RCV003305774] Chr2:176080334 [GRCh38]
Chr2:176945062 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1109C>G (p.Ala370Gly) single nucleotide variant Inborn genetic diseases [RCV003358478] Chr2:176080429 [GRCh38]
Chr2:176945157 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1136C>T (p.Pro379Leu) single nucleotide variant Inborn genetic diseases [RCV003370762] Chr2:176080402 [GRCh38]
Chr2:176945130 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.827A>G (p.Tyr276Cys) single nucleotide variant not provided [RCV003436256] Chr2:176080711 [GRCh38]
Chr2:176945439 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001080458.2(EVX2):c.1164G>C (p.Ser388=) single nucleotide variant not provided [RCV003436255] Chr2:176080374 [GRCh38]
Chr2:176945102 [GRCh37]
Chr2:2q31.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:892
Count of miRNA genes:638
Interacting mature miRNAs:701
Transcripts:ENST00000308618
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High
Medium 2 7 87 1
Low 292 2 2 5 20 35 5 653 28 1 3
Below cutoff 690 662 281 67 214 39 1453 605 881 90 337 272 30 369 989 1

Sequence


RefSeq Acc Id: ENST00000308618   ⟹   ENSP00000312385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2176,077,472 - 176,083,962 (-)Ensembl
RefSeq Acc Id: NM_001080458   ⟹   NP_001073927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382176,077,472 - 176,083,962 (-)NCBI
GRCh372176,944,835 - 176,948,690 (-)RGD
Build 362176,653,081 - 176,656,936 (-)NCBI Archive
Celera2170,553,985 - 170,557,840 (-)RGD
HuRef2168,822,321 - 168,826,177 (-)RGD
CHM1_12176,950,682 - 176,954,537 (-)NCBI
T2T-CHM13v2.02176,565,581 - 176,572,075 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073927 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52414 (Get FASTA)   NCBI Sequence Viewer  
  EAX11096 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312385
  ENSP00000312385.4
GenBank Protein Q03828 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001073927   ⟸   NM_001080458
- UniProtKB: Q03828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000312385   ⟸   ENST00000308618

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03828-F1-model_v2 AlphaFold Q03828 1-476 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3507 AgrOrtholog
COSMIC EVX2 COSMIC
Ensembl Genes ENSG00000174279 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308618 ENTREZGENE
  ENST00000308618.5 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000174279 GTEx
HGNC ID HGNC:3507 ENTREZGENE
Human Proteome Map EVX2 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Homeobox_metazoa UniProtKB/Swiss-Prot
KEGG Report hsa:344191 UniProtKB/Swiss-Prot
NCBI Gene 344191 ENTREZGENE
OMIM 142991 OMIM
PANTHER HOMEOBOX EVEN-SKIPPED HOMOLOG PROTEIN 2 UniProtKB/Swiss-Prot
  SEGMENTATION PROTEIN EVEN-SKIPPED UniProtKB/Swiss-Prot
Pfam Homeodomain UniProtKB/Swiss-Prot
PharmGKB PA27920 PharmGKB
PRINTS HOMEOBOX UniProtKB/Swiss-Prot
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt EVX2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE