MAP3K2 (mitogen-activated protein kinase kinase kinase 2) - Rat Genome Database

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Gene: MAP3K2 (mitogen-activated protein kinase kinase kinase 2) Homo sapiens
Analyze
Symbol: MAP3K2
Name: mitogen-activated protein kinase kinase kinase 2
RGD ID: 1354206
HGNC Page HGNC:6854
Description: Enables protein kinase activity and protein kinase binding activity. Involved in cellular response to mechanical stimulus and intracellular signal transduction. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MAP/ERK kinase kinase 2; MAPK/ERK kinase kinase 2; MEK kinase 2; MEKK 2; MEKK2; MEKK2B
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
GRCh382127,298,668 - 127,388,465 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2127,298,668 - 127,388,465 (-)EnsemblGRCh38hg38GRCh38
GRCh372128,056,244 - 128,146,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,778,609 - 127,817,240 (-)NCBINCBI36Build 36hg18NCBI36
Build 342127,780,007 - 127,817,035NCBI
Celera2121,373,314 - 121,412,005 (-)NCBICelera
Cytogenetic Map2q14.3NCBI
HuRef2120,363,448 - 120,407,794 (-)NCBIHuRef
CHM1_12128,060,819 - 128,105,372 (-)NCBICHM1_1
T2T-CHM13v2.02127,733,893 - 127,823,745 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

References

References - curated
# Reference Title Reference Citation
1. MEK kinases are regulated by EGF and selectively interact with Rac/Cdc42. Fanger GR, etal., EMBO J. 1997 Aug 15;16(16):4961-72.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The c-jun kinase/stress-activated pathway: regulation, function and role in human disease. Johnson GL and Nakamura K, Biochim Biophys Acta. 2007 Aug;1773(8):1341-8. Epub 2007 Jan 4.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Regulation of cellular functions by the ERK5 signalling pathway. Wang X and Tournier C, Cell Signal. 2006 Jun;18(6):753-60. Epub 2006 Jan 6.
Additional References at PubMed
PMID:7997270   PMID:8621389   PMID:9162092   PMID:9372971   PMID:9452471   PMID:10085062   PMID:10713157   PMID:10818102   PMID:11032806   PMID:11073940   PMID:12477932   PMID:12640115  
PMID:12659851   PMID:12912994   PMID:14515274   PMID:14681216   PMID:14702039   PMID:14734742   PMID:15001576   PMID:15075238   PMID:15324660   PMID:15778465   PMID:15815621   PMID:15820682  
PMID:15988011   PMID:16001074   PMID:17192257   PMID:17353931   PMID:17906693   PMID:17979178   PMID:18761086   PMID:19289468   PMID:19318350   PMID:19593445   PMID:19690195   PMID:19773279  
PMID:19903815   PMID:19953087   PMID:20098747   PMID:20174665   PMID:20588253   PMID:20804422   PMID:20830310   PMID:20936779   PMID:21804577   PMID:21873635   PMID:21988832   PMID:22139075  
PMID:22939624   PMID:24255178   PMID:24491810   PMID:24801835   PMID:24847881   PMID:24975362   PMID:25012295   PMID:25190348   PMID:25304384   PMID:25382779   PMID:26496610   PMID:26884171  
PMID:27066749   PMID:27173435   PMID:27498924   PMID:28069384   PMID:28514442   PMID:29117863   PMID:29309787   PMID:29549164   PMID:29662197   PMID:29969578   PMID:30021884   PMID:30504095  
PMID:31257536   PMID:31493405   PMID:31980649   PMID:32513149   PMID:32707033   PMID:33111431   PMID:33177525   PMID:33303630   PMID:33571521   PMID:33627787   PMID:33961781   PMID:34278472  
PMID:35271311   PMID:35352818   PMID:35509820   PMID:35819319   PMID:35929837   PMID:36161689   PMID:36517590   PMID:36736316   PMID:36810972   PMID:36931259   PMID:37219487   PMID:37258120  


Genomics

Comparative Map Data
MAP3K2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382127,298,668 - 127,388,465 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2127,298,668 - 127,388,465 (-)EnsemblGRCh38hg38GRCh38
GRCh372128,056,244 - 128,146,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,778,609 - 127,817,240 (-)NCBINCBI36Build 36hg18NCBI36
Build 342127,780,007 - 127,817,035NCBI
Celera2121,373,314 - 121,412,005 (-)NCBICelera
Cytogenetic Map2q14.3NCBI
HuRef2120,363,448 - 120,407,794 (-)NCBIHuRef
CHM1_12128,060,819 - 128,105,372 (-)NCBICHM1_1
T2T-CHM13v2.02127,733,893 - 127,823,745 (-)NCBIT2T-CHM13v2.0
Map3k2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391832,296,142 - 32,369,804 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1832,296,142 - 32,369,804 (+)EnsemblGRCm39 Ensembl
GRCm381832,163,089 - 32,236,751 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1832,163,089 - 32,236,751 (+)EnsemblGRCm38mm10GRCm38
MGSCv371832,322,743 - 32,396,405 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361832,306,212 - 32,371,521 (+)NCBIMGSCv36mm8
Celera1832,644,790 - 32,718,516 (+)NCBICelera
Cytogenetic Map18B1NCBI
cM Map1817.95NCBI
Map3k2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81824,081,444 - 24,153,940 (+)NCBIGRCr8
mRatBN7.21823,807,218 - 23,879,722 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1823,807,218 - 23,871,433 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1823,935,311 - 23,999,520 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01824,692,639 - 24,757,275 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01824,030,296 - 24,094,510 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01824,961,250 - 25,025,488 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1824,961,245 - 25,025,897 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01824,676,280 - 24,740,723 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41824,606,219 - 24,672,732 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11824,680,069 - 24,682,550 (+)NCBI
Celera1823,559,225 - 23,623,916 (+)NCBICelera
Cytogenetic Map18p12NCBI
Map3k2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554593,136,010 - 3,196,971 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554593,135,959 - 3,196,971 (+)NCBIChiLan1.0ChiLan1.0
MAP3K2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21348,257,665 - 48,347,308 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B48,272,647 - 48,362,285 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B32,889,499 - 32,979,077 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B127,963,999 - 128,008,773 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B127,972,900 - 128,008,766 (-)Ensemblpanpan1.1panPan2
MAP3K2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11923,210,106 - 23,303,426 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1923,210,714 - 23,294,586 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1923,457,614 - 23,550,900 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01924,536,705 - 24,630,042 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1924,519,123 - 24,622,032 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11923,240,311 - 23,333,600 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01923,434,707 - 23,529,263 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01924,567,169 - 24,660,474 (+)NCBIUU_Cfam_GSD_1.0
Map3k2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530397,654,640 - 97,736,974 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646943,880,468 - 43,958,556 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646943,880,816 - 43,958,556 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAP3K2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1525,087,738 - 25,178,060 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11525,087,479 - 25,184,106 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21528,766,719 - 28,864,185 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MAP3K2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1102,831,265 - 2,921,782 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl102,831,270 - 2,912,897 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606119,831,765 - 19,921,903 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Map3k2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473213,790,080 - 13,877,598 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473213,790,088 - 13,877,641 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAP3K2
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 copy number loss See cases [RCV000054059] Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3		 pathogenic
GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 copy number loss See cases [RCV000054060] Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3		 pathogenic
NM_006609.4(MAP3K2):c.608C>T (p.Pro203Leu) single nucleotide variant Malignant melanoma [RCV000065048] Chr2:127325797 [GRCh38]
Chr2:128083373 [GRCh37]
Chr2:127799843 [NCBI36]
Chr2:2q14.3		 not provided
GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 copy number loss See cases [RCV000135455] Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3		 pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1		 pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 copy number loss See cases [RCV000137467] Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1		 likely pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 copy number gain See cases [RCV000138369] Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1		 uncertain significance
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 copy number loss See cases [RCV000141584] Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3		 pathogenic
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 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 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NC_000002.12:g.124348648_129410245del deletion See cases [RCV001568390] Chr2:124348648..129410245 [GRCh38]
Chr2:2q14.3-21.1		 not provided
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
NM_001371910.2(MAP3K2):c.879C>A (p.Thr293=) single nucleotide variant not provided [RCV000884306] Chr2:127322212 [GRCh38]
Chr2:128079788 [GRCh37]
Chr2:2q14.3		 benign
NM_001371910.2(MAP3K2):c.1266T>C (p.Tyr422=) single nucleotide variant not provided [RCV000885944] Chr2:127317689 [GRCh38]
Chr2:128075265 [GRCh37]
Chr2:2q14.3		 benign
GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1 copy number loss not provided [RCV001005309] Chr2:118872395..128069813 [GRCh37]
Chr2:2q14.2-14.3		 pathogenic
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2		 likely 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 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q13-14.3(chr2:113188197-128144700) copy number loss not specified [RCV002053220] Chr2:113188197..128144700 [GRCh37]
Chr2:2q13-14.3		 pathogenic
GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3 copy number gain not provided [RCV001825178] Chr2:127864458..128083342 [GRCh37]
Chr2:2q14.3		 not provided
GRCh37/hg19 2q14.3(chr2:128024782-129332242) copy number gain not specified [RCV002053228] Chr2:128024782..129332242 [GRCh37]
Chr2:2q14.3		 uncertain significance
NC_000002.11:g.(?_127806102)_(128432598_?)del deletion Autosomal recessive limb-girdle muscular dystrophy type 2W [RCV001928002]|Myopathy, centronuclear, 2 [RCV001916346] Chr2:127806102..128432598 [GRCh37]
Chr2:2q14.3		 uncertain significance
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
NC_000002.11:g.(?_127806102)_(129076137_?)del deletion Thrombophilia due to protein C deficiency, autosomal dominant [RCV003110990] Chr2:127806102..129076137 [GRCh37]
Chr2:2q14.3		 pathogenic
NC_000002.11:g.(?_127451420)_(129076137_?)del deletion not provided [RCV003119332] Chr2:127451420..129076137 [GRCh37]
Chr2:2q14.3		 pathogenic
NM_001371910.2(MAP3K2):c.1765T>C (p.Tyr589His) single nucleotide variant Inborn genetic diseases [RCV002902729] Chr2:127307674 [GRCh38]
Chr2:128065250 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1112A>G (p.Tyr371Cys) single nucleotide variant Inborn genetic diseases [RCV002969371] Chr2:127318251 [GRCh38]
Chr2:128075827 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.388T>A (p.Leu130Ile) single nucleotide variant Inborn genetic diseases [RCV002731766] Chr2:127329999 [GRCh38]
Chr2:128087575 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.341G>A (p.Ser114Asn) single nucleotide variant Inborn genetic diseases [RCV002817902] Chr2:127330429 [GRCh38]
Chr2:128088005 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1535G>C (p.Cys512Ser) single nucleotide variant Inborn genetic diseases [RCV002692701] Chr2:127308684 [GRCh38]
Chr2:128066260 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1327G>A (p.Gly443Ser) single nucleotide variant Inborn genetic diseases [RCV002745177] Chr2:127314883 [GRCh38]
Chr2:128072459 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1819G>A (p.Ala607Thr) single nucleotide variant Inborn genetic diseases [RCV002712716] Chr2:127307620 [GRCh38]
Chr2:128065196 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.557T>A (p.Ile186Asn) single nucleotide variant Inborn genetic diseases [RCV002984576] Chr2:127326727 [GRCh38]
Chr2:128084303 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1459G>A (p.Ala487Thr) single nucleotide variant Inborn genetic diseases [RCV003189141] Chr2:127308760 [GRCh38]
Chr2:128066336 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.358G>T (p.Val120Leu) single nucleotide variant Inborn genetic diseases [RCV003281644] Chr2:127330412 [GRCh38]
Chr2:128087988 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.130G>A (p.Val44Ile) single nucleotide variant Inborn genetic diseases [RCV003183281] Chr2:127337772 [GRCh38]
Chr2:128095348 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1174G>A (p.Asp392Asn) single nucleotide variant Inborn genetic diseases [RCV003221125] Chr2:127318189 [GRCh38]
Chr2:128075765 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1123G>A (p.Asp375Asn) single nucleotide variant Inborn genetic diseases [RCV003264636] Chr2:127318240 [GRCh38]
Chr2:128075816 [GRCh37]
Chr2:2q14.3		 uncertain significance
GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1 copy number loss not provided [RCV003484871] Chr2:124806439..128906413 [GRCh37]
Chr2:2q14.3		 uncertain significance
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2		 pathogenic
GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3 copy number gain not specified [RCV003986353] Chr2:125361063..129616153 [GRCh37]
Chr2:2q14.3		 uncertain significance
NM_001371910.2(MAP3K2):c.1554G>C (p.Met518Ile) single nucleotide variant Inborn genetic diseases [RCV003360359] Chr2:127308665 [GRCh38]
Chr2:128066241 [GRCh37]
Chr2:2q14.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR520Bhsa-miR-520bOncomiRDBexternal_infoNANA22319632

Predicted Target Of
Summary Value
Count of predictions:3164
Count of miRNA genes:1158
Interacting mature miRNAs:1478
Transcripts:ENST00000344908, ENST00000409179, ENST00000409947
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D2S2271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,099,902 - 128,100,051UniSTSGRCh37
Build 362127,816,372 - 127,816,521RGDNCBI36
Celera2121,411,132 - 121,411,283RGD
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map2q21UniSTS
HuRef2120,406,886 - 120,407,037UniSTS
Marshfield Genetic Map2133.65RGD
Marshfield Genetic Map2133.65UniSTS
Genethon Genetic Map2137.4UniSTS
TNG Radiation Hybrid Map273836.0UniSTS
deCODE Assembly Map2140.48UniSTS
Stanford-G3 RH Map25265.0UniSTS
NCBI RH Map2999.9UniSTS
GeneMap99-G3 RH Map26178.0UniSTS
A009P05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,113,986 - 128,114,088UniSTSGRCh37
GRCh372128,113,071 - 128,114,088UniSTSGRCh37
Build 362127,830,456 - 127,830,558RGDNCBI36
Celera2121,425,220 - 121,425,322RGD
Celera2121,424,305 - 121,425,322UniSTS
Cytogenetic Map2q14.3UniSTS
HuRef2120,420,057 - 120,421,073UniSTS
HuRef2120,420,972 - 120,421,073UniSTS
GeneMap99-GB4 RH Map2458.3UniSTS
NCBI RH Map2998.6UniSTS
RH71143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,056,271 - 128,056,418UniSTSGRCh37
Build 362127,772,741 - 127,772,888RGDNCBI36
Celera2121,367,803 - 121,367,950RGD
Cytogenetic Map2q14.3UniSTS
HuRef2120,363,474 - 120,363,621UniSTS
GeneMap99-GB4 RH Map2457.68UniSTS
NCBI RH Map2998.6UniSTS
RH91915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,146,734 - 128,146,897UniSTSGRCh37
Build 362127,863,204 - 127,863,367RGDNCBI36
Celera2121,457,966 - 121,458,129RGD
Cytogenetic Map2q14.3UniSTS
HuRef2120,453,706 - 120,453,869UniSTS
GeneMap99-GB4 RH Map2455.87UniSTS
RH102123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,060,633 - 128,060,792UniSTSGRCh37
Build 362127,777,103 - 127,777,262RGDNCBI36
Celera2121,371,807 - 121,371,966RGD
Cytogenetic Map2q14.3UniSTS
HuRef2120,367,833 - 120,367,992UniSTS
GeneMap99-GB4 RH Map2456.2UniSTS
D3S3285E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373174,267,769 - 174,267,861UniSTSGRCh37
GRCh372128,060,735 - 128,060,827UniSTSGRCh37
Build 362127,777,205 - 127,777,297RGDNCBI36
Celera2121,371,909 - 121,372,001RGD
Celera3172,666,396 - 172,666,488UniSTS
Cytogenetic Map2q14.3UniSTS
HuRef3171,641,606 - 171,641,698UniSTS
HuRef2120,367,935 - 120,368,027UniSTS
SHGC-58044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,135,098 - 128,135,339UniSTSGRCh37
Build 362127,851,568 - 127,851,809RGDNCBI36
Celera2121,446,330 - 121,446,571RGD
Cytogenetic Map2q14.3UniSTS
HuRef2120,442,079 - 120,442,320UniSTS
SHGC-56784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,061,978 - 128,062,154UniSTSGRCh37
Build 362127,778,448 - 127,778,624RGDNCBI36
Celera2121,373,153 - 121,373,329RGD
Cytogenetic Map2q14.3UniSTS
HuRef2120,369,179 - 120,369,355UniSTS
TNG Radiation Hybrid Map273811.0UniSTS
G32724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,113,986 - 128,114,088UniSTSGRCh37
GRCh372128,113,071 - 128,114,088UniSTSGRCh37
Celera2121,424,305 - 121,425,322UniSTS
Celera2121,425,220 - 121,425,322UniSTS
Cytogenetic Map2q14.3UniSTS
HuRef2120,420,972 - 120,421,073UniSTS
HuRef2120,420,057 - 120,421,073UniSTS
RH101970  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.3UniSTS
HuRef2120,365,316 - 120,365,480UniSTS
GeneMap99-GB4 RH Map2456.52UniSTS


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 1591 1798 1162 277 1533 176 3476 925 1391 245 1106 1572 115 969 2096 4
Low 848 1190 564 347 417 289 880 1269 2342 174 354 41 60 1 235 692 1 2
Below cutoff 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001371910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF239798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI760702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM470563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ423724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS116757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W07290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344908   ⟹   ENSP00000343463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2127,307,404 - 127,343,229 (-)Ensembl
RefSeq Acc Id: ENST00000409179   ⟹   ENSP00000386313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2127,337,759 - 127,387,932 (-)Ensembl
RefSeq Acc Id: ENST00000409947   ⟹   ENSP00000387246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2127,298,730 - 127,388,465 (-)Ensembl
RefSeq Acc Id: ENST00000682094   ⟹   ENSP00000507315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2127,298,668 - 127,387,975 (-)Ensembl
RefSeq Acc Id: NM_001371910   ⟹   NP_001358839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,298,668 - 127,387,975 (-)NCBI
T2T-CHM13v2.02127,733,893 - 127,823,255 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371911   ⟹   NP_001358840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,298,668 - 127,388,465 (-)NCBI
T2T-CHM13v2.02127,733,893 - 127,823,745 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006609   ⟹   NP_006600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,298,668 - 127,343,229 (-)NCBI
GRCh372128,056,245 - 128,100,805 (-)ENTREZGENE
Build 362127,778,609 - 127,817,240 (-)NCBI Archive
HuRef2120,363,448 - 120,407,794 (-)ENTREZGENE
CHM1_12128,060,819 - 128,105,372 (-)NCBI
T2T-CHM13v2.02127,733,893 - 127,778,517 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442989   ⟹   XP_047298945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,298,668 - 127,387,239 (-)NCBI
RefSeq Acc Id: XM_047442990   ⟹   XP_047298946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,298,668 - 127,387,975 (-)NCBI
RefSeq Acc Id: XM_047442991   ⟹   XP_047298947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,298,668 - 127,387,239 (-)NCBI
RefSeq Acc Id: XM_054340218   ⟹   XP_054196193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02127,733,893 - 127,823,255 (-)NCBI
RefSeq Acc Id: XM_054340219   ⟹   XP_054196194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02127,733,893 - 127,822,612 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_006600   ⟸   NM_006609
- UniProtKB: Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q9NYK3 (UniProtKB/Swiss-Prot),   Q9Y2U5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358840   ⟸   NM_001371911
- UniProtKB: Q9Y2U5 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q9NYK3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001358839   ⟸   NM_001371910
- UniProtKB: Q9Y2U5 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q9NYK3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000387246   ⟸   ENST00000409947
RefSeq Acc Id: ENSP00000386313   ⟸   ENST00000409179
RefSeq Acc Id: ENSP00000343463   ⟸   ENST00000344908
RefSeq Acc Id: ENSP00000507315   ⟸   ENST00000682094
RefSeq Acc Id: XP_047298946   ⟸   XM_047442990
- Peptide Label: isoform X1
- UniProtKB: Q9Y2U5 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q9NYK3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047298947   ⟸   XM_047442991
- Peptide Label: isoform X1
- UniProtKB: Q9Y2U5 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q9NYK3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047298945   ⟸   XM_047442989
- Peptide Label: isoform X1
- UniProtKB: Q9Y2U5 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q9NYK3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196193   ⟸   XM_054340218
- Peptide Label: isoform X1
- UniProtKB: Q9NYK3 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q9Y2U5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054196194   ⟸   XM_054340219
- Peptide Label: isoform X1
- UniProtKB: Q9NYK3 (UniProtKB/Swiss-Prot),   Q9Y2U5 (UniProtKB/Swiss-Prot),   Q8NC32 (UniProtKB/Swiss-Prot),   Q59GZ6 (UniProtKB/Swiss-Prot),   Q53S75 (UniProtKB/Swiss-Prot),   Q53QL9 (UniProtKB/Swiss-Prot),   B9EG87 (UniProtKB/Swiss-Prot)
Protein Domains
PB1   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2U5-F1-model_v2 AlphaFold Q9Y2U5 1-619 view protein structure

Promoters
RGD ID:6861480
Promoter ID:EPDNEW_H3905
Type:initiation region
Name:MAP3K2_2
Description:mitogen-activated protein kinase kinase kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3906  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,343,173 - 127,343,233EPDNEW
RGD ID:6861498
Promoter ID:EPDNEW_H3906
Type:initiation region
Name:MAP3K2_1
Description:mitogen-activated protein kinase kinase kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3905  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,387,975 - 127,388,035EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6854 AgrOrtholog
COSMIC MAP3K2 COSMIC
Ensembl Genes ENSG00000169967 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344908 ENTREZGENE
  ENST00000344908.9 UniProtKB/Swiss-Prot
  ENST00000409947 ENTREZGENE
  ENST00000409947.5 UniProtKB/Swiss-Prot
  ENST00000682094 ENTREZGENE
  ENST00000682094.1 UniProtKB/Swiss-Prot
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169967 GTEx
HGNC ID HGNC:6854 ENTREZGENE
Human Proteome Map MAP3K2 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PB1_dom UniProtKB/Swiss-Prot
  PB1_MEKK2/3 UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
KEGG Report hsa:10746 UniProtKB/Swiss-Prot
NCBI Gene 10746 ENTREZGENE
OMIM 609487 OMIM
PANTHER MAP KINASE KINASE KINASE SSK2-RELATED-RELATED UniProtKB/Swiss-Prot
  MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 15 UniProtKB/TrEMBL
  MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 3 UniProtKB/Swiss-Prot
  SERINE/THREONINE PROTEIN KINASE UniProtKB/TrEMBL
Pfam PB1 UniProtKB/Swiss-Prot
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30598 PharmGKB
PROSITE PB1 UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PB1 UniProtKB/Swiss-Prot
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP CAD & PB1 domains UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9EG87 ENTREZGENE
  M3K2_HUMAN UniProtKB/Swiss-Prot
  Q53QL9 ENTREZGENE
  Q53S75 ENTREZGENE
  Q59GZ6 ENTREZGENE
  Q6P084_HUMAN UniProtKB/TrEMBL
  Q8NC32 ENTREZGENE
  Q9NYK3 ENTREZGENE
  Q9Y2U5 ENTREZGENE
UniProt Secondary B9EG87 UniProtKB/Swiss-Prot
  Q53QL9 UniProtKB/Swiss-Prot
  Q53S75 UniProtKB/Swiss-Prot
  Q59GZ6 UniProtKB/Swiss-Prot
  Q8NC32 UniProtKB/Swiss-Prot
  Q9NYK3 UniProtKB/Swiss-Prot