MKRN2 (makorin ring finger protein 2) - Rat Genome Database

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Gene: MKRN2 (makorin ring finger protein 2) Homo sapiens
Analyze
Symbol: MKRN2
Name: makorin ring finger protein 2
RGD ID: 1321625
HGNC Page HGNC:7113
Description: Enables RNA binding activity. Predicted to be involved in several processes, including negative regulation of inflammatory response to antigenic stimulus; negative regulation of non-canonical NF-kappaB signal transduction; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E3 ubiquitin-protein ligase makorin-2; HSPC070; makorin RING zinc-finger protein 2; probable E3 ubiquitin-protein ligase makorin-2; RING finger protein 62; RING-type E3 ubiquitin transferase makorin-2; RNF62
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MKRN6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38312,557,087 - 12,583,713 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl312,557,057 - 12,586,208 (+)EnsemblGRCh38hg38GRCh38
GRCh37312,598,586 - 12,625,212 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36312,573,594 - 12,600,212 (+)NCBINCBI36Build 36hg18NCBI36
Build 34312,573,593 - 12,600,208NCBI
Celera312,535,907 - 12,563,538 (+)NCBICelera
Cytogenetic Map3p25.2NCBI
HuRef312,531,728 - 12,559,429 (+)NCBIHuRef
CHM1_1312,548,570 - 12,575,291 (+)NCBICHM1_1
T2T-CHM13v2.0312,554,891 - 12,582,517 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,ISS)
nucleus  (IEA,ISS)

Molecular Function

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:11042152   PMID:11597136   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17500595   PMID:18187620   PMID:19549727   PMID:21048031   PMID:21172006   PMID:21873635   PMID:22046132  
PMID:22493164   PMID:22681889   PMID:24675897   PMID:24722188   PMID:25416956   PMID:25437307   PMID:26167880   PMID:26186194   PMID:26496610   PMID:26673895   PMID:26831064   PMID:26871637  
PMID:27505670   PMID:28378844   PMID:28514442   PMID:29395067   PMID:29802200   PMID:30103781   PMID:30397336   PMID:30561431   PMID:31091453   PMID:31391550   PMID:31814304   PMID:32060556  
PMID:32194692   PMID:32296183   PMID:32460013   PMID:32560817   PMID:32807901   PMID:32814053   PMID:32838362   PMID:33060197   PMID:33239621   PMID:33277362   PMID:33961781   PMID:34079125  
PMID:34186245   PMID:34226595   PMID:34597346   PMID:34917906   PMID:35013218   PMID:35013556   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35563538   PMID:35676246   PMID:35794827  
PMID:35831314   PMID:36217029   PMID:36273042   PMID:36526897   PMID:36849460   PMID:36938725   PMID:36949045   PMID:37528788   PMID:37689310  


Genomics

Comparative Map Data
MKRN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38312,557,087 - 12,583,713 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl312,557,057 - 12,586,208 (+)EnsemblGRCh38hg38GRCh38
GRCh37312,598,586 - 12,625,212 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36312,573,594 - 12,600,212 (+)NCBINCBI36Build 36hg18NCBI36
Build 34312,573,593 - 12,600,208NCBI
Celera312,535,907 - 12,563,538 (+)NCBICelera
Cytogenetic Map3p25.2NCBI
HuRef312,531,728 - 12,559,429 (+)NCBIHuRef
CHM1_1312,548,570 - 12,575,291 (+)NCBICHM1_1
T2T-CHM13v2.0312,554,891 - 12,582,517 (+)NCBIT2T-CHM13v2.0
Mkrn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396115,578,844 - 115,598,647 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6115,578,863 - 115,599,585 (+)EnsemblGRCm39 Ensembl
GRCm386115,601,883 - 115,621,683 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6115,601,902 - 115,622,624 (+)EnsemblGRCm38mm10GRCm38
MGSCv376115,551,956 - 115,568,688 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366115,567,557 - 115,584,289 (+)NCBIMGSCv36mm8
Celera6117,442,079 - 117,458,793 (+)NCBICelera
Cytogenetic Map6E3NCBI
cM Map653.61NCBI
Mkrn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84150,334,164 - 150,352,271 (+)NCBIGRCr8
mRatBN7.24148,661,529 - 148,679,580 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4148,661,553 - 148,679,642 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4154,885,604 - 154,904,019 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04150,668,687 - 150,687,102 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04149,292,510 - 149,310,925 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04147,514,041 - 147,532,086 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4147,514,120 - 147,532,084 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04210,801,433 - 210,819,194 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44151,734,327 - 151,752,629 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14151,979,167 - 151,997,468 (+)NCBI
Celera4137,552,122 - 137,570,545 (+)NCBICelera
Cytogenetic Map4q42NCBI
Mkrn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542918,049,624 - 18,071,185 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542918,049,617 - 18,070,526 (-)NCBIChiLan1.0ChiLan1.0
MKRN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2212,541,577 - 12,570,539 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1312,546,338 - 12,574,276 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0312,481,268 - 12,510,196 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1312,824,341 - 12,853,527 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl312,824,341 - 12,853,520 (+)Ensemblpanpan1.1panPan2
MKRN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1205,972,567 - 6,002,424 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl205,973,866 - 6,002,353 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha206,009,205 - 6,039,062 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0206,000,763 - 6,030,623 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl206,000,775 - 6,030,626 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1205,716,930 - 5,746,803 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0206,070,843 - 6,100,697 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0206,045,895 - 6,075,772 (-)NCBIUU_Cfam_GSD_1.0
Mkrn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494217,765,643 - 17,795,434 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366021,114,832 - 1,144,251 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366021,114,271 - 1,144,045 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MKRN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1368,546,464 - 68,581,232 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11368,546,482 - 68,584,341 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21375,816,743 - 75,847,270 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MKRN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12248,532,155 - 48,559,373 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2248,532,205 - 48,558,949 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041117,940,139 - 117,969,026 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mkrn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624872183,446 - 204,956 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624872183,421 - 204,463 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MKRN2
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3 copy number gain See cases [RCV000138028] Chr3:12487565..12997325 [GRCh38]
Chr3:12529064..13038825 [GRCh37]
Chr3:12504064..13013825 [NCBI36]
Chr3:3p25.2		 uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p25.2(chr3:12503638-12803254)x3 copy number gain See cases [RCV000447169] Chr3:12503638..12803254 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
Single allele duplication not provided [RCV000677929] Chr3:12586302..12970555 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
GRCh37/hg19 3p25.2(chr3:12526440-12839915)x3 copy number gain not provided [RCV000682243] Chr3:12526440..12839915 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p25.2(chr3:12534326-12826919)x3 copy number gain not provided [RCV000682244] Chr3:12534326..12826919 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.2(chr3:12618262-12806123)x3 copy number gain not provided [RCV000742257] Chr3:12618262..12806123 [GRCh37]
Chr3:3p25.2		 benign
NM_014160.5(MKRN2):c.167C>T (p.Thr56Met) single nucleotide variant Inborn genetic diseases [RCV003270063] Chr3:12570082 [GRCh38]
Chr3:12611581 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.*1421T>A single nucleotide variant LEOPARD syndrome 2 [RCV001149992]|Noonan syndrome 5 [RCV001149993] Chr3:12583674 [GRCh38]
Chr3:12625173 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.*1420G>A single nucleotide variant LEOPARD syndrome 2 [RCV001148422]|Noonan syndrome 5 [RCV001149991] Chr3:12583673 [GRCh38]
Chr3:12625172 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.499G>A (p.Glu167Lys) single nucleotide variant Inborn genetic diseases [RCV003268922] Chr3:12572230 [GRCh38]
Chr3:12613729 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p25.2(chr3:12522670-12893013)x3 copy number gain not provided [RCV001259805] Chr3:12522670..12893013 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p25.2(chr3:12340850-12606966)x3 copy number gain not provided [RCV001834331] Chr3:12340850..12606966 [GRCh37]
Chr3:3p25.2		 uncertain significance
NC_000003.11:g.(?_12353198)_(12660220_?)dup duplication RASopathy [RCV002045566] Chr3:12353198..12660220 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p25.2(chr3:12503638-12803254) copy number gain not specified [RCV002053332] Chr3:12503638..12803254 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p25.2(chr3:12609549-12720004) copy number loss not specified [RCV002053333] Chr3:12609549..12720004 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NC_000003.11:g.(?_12558090)_(12629156_?)dup duplication RASopathy [RCV003113141] Chr3:12558090..12629156 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.403G>C (p.Asp135His) single nucleotide variant Inborn genetic diseases [RCV002774299] Chr3:12572134 [GRCh38]
Chr3:12613633 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.440A>G (p.Tyr147Cys) single nucleotide variant Inborn genetic diseases [RCV002772981] Chr3:12572171 [GRCh38]
Chr3:12613670 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1221C>T (p.His407=) single nucleotide variant not provided [RCV002512216] Chr3:12582223 [GRCh38]
Chr3:12623722 [GRCh37]
Chr3:3p25.2		 likely benign
NM_014160.5(MKRN2):c.1066G>A (p.Glu356Lys) single nucleotide variant Inborn genetic diseases [RCV002732853] Chr3:12581905 [GRCh38]
Chr3:12623404 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1204G>A (p.Gly402Arg) single nucleotide variant Inborn genetic diseases [RCV002707689] Chr3:12582206 [GRCh38]
Chr3:12623705 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1219C>A (p.His407Asn) single nucleotide variant Inborn genetic diseases [RCV002758174] Chr3:12582221 [GRCh38]
Chr3:12623720 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1214T>G (p.Phe405Cys) single nucleotide variant Inborn genetic diseases [RCV002782576] Chr3:12582216 [GRCh38]
Chr3:12623715 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1169T>A (p.Val390Asp) single nucleotide variant Inborn genetic diseases [RCV002703354] Chr3:12582171 [GRCh38]
Chr3:12623670 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.431C>T (p.Pro144Leu) single nucleotide variant Inborn genetic diseases [RCV002920711] Chr3:12572162 [GRCh38]
Chr3:12613661 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.254C>G (p.Ser85Cys) single nucleotide variant Inborn genetic diseases [RCV002792439] Chr3:12570169 [GRCh38]
Chr3:12611668 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.167C>A (p.Thr56Lys) single nucleotide variant Inborn genetic diseases [RCV003008720] Chr3:12570082 [GRCh38]
Chr3:12611581 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.237C>G (p.His79Gln) single nucleotide variant Inborn genetic diseases [RCV002813835] Chr3:12570152 [GRCh38]
Chr3:12611651 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1175A>G (p.Asn392Ser) single nucleotide variant Inborn genetic diseases [RCV003208005] Chr3:12582177 [GRCh38]
Chr3:12623676 [GRCh37]
Chr3:3p25.2		 likely benign
NM_014160.5(MKRN2):c.1130G>A (p.Arg377Gln) single nucleotide variant Inborn genetic diseases [RCV003192227] Chr3:12582132 [GRCh38]
Chr3:12623631 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.401G>A (p.Ser134Asn) single nucleotide variant Inborn genetic diseases [RCV003282016] Chr3:12572132 [GRCh38]
Chr3:12613631 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.632C>T (p.Ala211Val) single nucleotide variant Inborn genetic diseases [RCV003190188] Chr3:12572363 [GRCh38]
Chr3:12613862 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.227C>T (p.Pro76Leu) single nucleotide variant Inborn genetic diseases [RCV003343325] Chr3:12570142 [GRCh38]
Chr3:12611641 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.1189G>A (p.Asp397Asn) single nucleotide variant Inborn genetic diseases [RCV003360499] Chr3:12582191 [GRCh38]
Chr3:12623690 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_014160.5(MKRN2):c.881T>G (p.Ile294Arg) single nucleotide variant Inborn genetic diseases [RCV003356334] Chr3:12576654 [GRCh38]
Chr3:12618153 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_002880.4(RAF1):c.1941C>T (p.Val647=) single nucleotide variant Cardiovascular phenotype [RCV000252430]|LEOPARD syndrome 2 [RCV001145869]|Noonan syndrome 5 [RCV001143979]|Noonan syndrome and Noonan-related syndrome [RCV001813331]|RASopathy [RCV000149840]|not provided [RCV000857577]|not specified [RCV000037685] Chr3:12584520 [GRCh38]
Chr3:12626019 [GRCh37]
Chr3:3p25.2		 benign|likely benign|not provided
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:818
Count of miRNA genes:485
Interacting mature miRNAs:526
Transcripts:ENST00000170447, ENST00000411987, ENST00000448482
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
D3S3701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,617,580 - 12,617,754UniSTSGRCh37
Build 36312,592,580 - 12,592,754RGDNCBI36
Celera312,555,907 - 12,556,081RGD
Cytogenetic Map3p25UniSTS
HuRef312,551,797 - 12,551,971UniSTS
Marshfield Genetic Map336.65UniSTS
Marshfield Genetic Map336.65RGD
Genethon Genetic Map331.4UniSTS
TNG Radiation Hybrid Map38788.0UniSTS
deCODE Assembly Map330.92UniSTS
Stanford-G3 RH Map3581.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3154.8UniSTS
GeneMap99-G3 RH Map3581.0UniSTS
SHGC-76728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,624,598 - 12,624,853UniSTSGRCh37
Build 36312,599,598 - 12,599,853RGDNCBI36
Celera312,562,924 - 12,563,179RGD
Cytogenetic Map3p25UniSTS
HuRef312,558,815 - 12,559,070UniSTS
TNG Radiation Hybrid Map38769.0UniSTS
GeneMap99-GB4 RH Map356.64UniSTS
Whitehead-RH Map358.6UniSTS
D3S2870E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,624,992 - 12,625,110UniSTSGRCh37
Build 36312,599,992 - 12,600,110RGDNCBI36
Celera312,563,318 - 12,563,436RGD
Cytogenetic Map3p25UniSTS
HuRef312,559,209 - 12,559,327UniSTS
TNG Radiation Hybrid Map38792.0UniSTS
GeneMap99-GB4 RH Map356.69UniSTS
NCBI RH Map3147.1UniSTS
RH102412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,623,416 - 12,623,724UniSTSGRCh37
Build 36312,598,416 - 12,598,724RGDNCBI36
Celera312,561,742 - 12,562,050RGD
Cytogenetic Map3p25UniSTS
HuRef312,557,633 - 12,557,941UniSTS
GeneMap99-GB4 RH Map351.47UniSTS
RH123901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,615,824 - 12,616,117UniSTSGRCh37
Build 36312,590,824 - 12,591,117RGDNCBI36
Celera312,554,151 - 12,554,444RGD
Cytogenetic Map3p25UniSTS
HuRef312,550,041 - 12,550,334UniSTS
TNG Radiation Hybrid Map38797.0UniSTS
TNG Radiation Hybrid Map38780.0UniSTS
GDB:217154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,625,216 - 12,625,339UniSTSGRCh37
Build 36312,600,216 - 12,600,339RGDNCBI36
Celera312,563,542 - 12,563,665RGD
Cytogenetic Map3p25UniSTS
HuRef312,559,433 - 12,559,556UniSTS
SHGC-112307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,624,369 - 12,624,700UniSTSGRCh37
Build 36312,599,369 - 12,599,700RGDNCBI36
Celera312,562,695 - 12,563,026RGD
Cytogenetic Map3p25UniSTS
HuRef312,558,586 - 12,558,917UniSTS
TNG Radiation Hybrid Map38769.0UniSTS
D3S4000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,625,205 - 12,625,547UniSTSGRCh37
Build 36312,600,205 - 12,600,547RGDNCBI36
Celera312,563,531 - 12,563,873RGD
Cytogenetic Map3p25UniSTS
HuRef312,559,422 - 12,559,764UniSTS
Whitehead-YAC Contig Map3 UniSTS
G15882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,625,211 - 12,625,366UniSTSGRCh37
Build 36312,600,211 - 12,600,366RGDNCBI36
Celera312,563,537 - 12,563,692RGD
Cytogenetic Map3p25UniSTS
HuRef312,559,428 - 12,559,583UniSTS
A009W45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,625,150 - 12,625,261UniSTSGRCh37
Build 36312,600,150 - 12,600,261RGDNCBI36
Celera312,563,476 - 12,563,587RGD
Cytogenetic Map3p25UniSTS
HuRef312,559,367 - 12,559,478UniSTS
GeneMap99-GB4 RH Map356.69UniSTS
G32929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,625,150 - 12,625,261UniSTSGRCh37
Celera312,563,476 - 12,563,587UniSTS
Cytogenetic Map3p25UniSTS
HuRef312,559,367 - 12,559,478UniSTS


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 2389 2370 1542 463 1464 305 4352 2075 3355 365 1445 1603 171 1202 2785 4
Low 50 620 184 161 487 159 4 122 378 54 15 8 4 1 2 3 1 2
Below cutoff 1 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000170447   ⟹   ENSP00000170447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,087 - 12,583,713 (+)Ensembl
RefSeq Acc Id: ENST00000411987   ⟹   ENSP00000396340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,087 - 12,582,503 (+)Ensembl
RefSeq Acc Id: ENST00000448482   ⟹   ENSP00000397983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,090 - 12,582,626 (+)Ensembl
RefSeq Acc Id: ENST00000676541   ⟹   ENSP00000503730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,450 - 12,585,792 (+)Ensembl
RefSeq Acc Id: ENST00000676544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,057 - 12,583,696 (+)Ensembl
RefSeq Acc Id: ENST00000676701   ⟹   ENSP00000503305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,081 - 12,583,694 (+)Ensembl
RefSeq Acc Id: ENST00000677008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,581,367 - 12,583,691 (+)Ensembl
RefSeq Acc Id: ENST00000677142   ⟹   ENSP00000504455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,269 - 12,585,792 (+)Ensembl
RefSeq Acc Id: ENST00000677237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,057 - 12,583,255 (+)Ensembl
RefSeq Acc Id: ENST00000677798   ⟹   ENSP00000503754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,572,275 - 12,582,466 (+)Ensembl
RefSeq Acc Id: ENST00000677816   ⟹   ENSP00000502893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,057 - 12,586,208 (+)Ensembl
RefSeq Acc Id: ENST00000677941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,057 - 12,585,800 (+)Ensembl
RefSeq Acc Id: ENST00000678151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,128 - 12,570,832 (+)Ensembl
RefSeq Acc Id: ENST00000679143   ⟹   ENSP00000504009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,557,066 - 12,583,694 (+)Ensembl
RefSeq Acc Id: NM_001271707   ⟹   NP_001258636
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,557,087 - 12,583,713 (+)NCBI
GRCh37312,598,513 - 12,625,212 (+)NCBI
HuRef312,531,728 - 12,559,429 (+)NCBI
CHM1_1312,548,570 - 12,575,291 (+)NCBI
T2T-CHM13v2.0312,554,891 - 12,582,517 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014160   ⟹   NP_054879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,557,087 - 12,583,713 (+)NCBI
GRCh37312,598,513 - 12,625,212 (+)NCBI
Build 36312,573,594 - 12,600,212 (+)NCBI Archive
Celera312,535,907 - 12,563,538 (+)RGD
HuRef312,531,728 - 12,559,429 (+)NCBI
CHM1_1312,548,570 - 12,575,291 (+)NCBI
T2T-CHM13v2.0312,554,891 - 12,582,517 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_054879   ⟸   NM_014160
- Peptide Label: isoform 1
- UniProtKB: Q9BUY2 (UniProtKB/Swiss-Prot),   Q96BD4 (UniProtKB/Swiss-Prot),   Q8N391 (UniProtKB/Swiss-Prot),   B4DPR4 (UniProtKB/Swiss-Prot),   B3KRC5 (UniProtKB/Swiss-Prot),   A6NIA2 (UniProtKB/Swiss-Prot),   Q9NRY1 (UniProtKB/Swiss-Prot),   Q9H000 (UniProtKB/Swiss-Prot),   A0A7I2YQI0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258636   ⟸   NM_001271707
- Peptide Label: isoform 2
- UniProtKB: C9J494 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396340   ⟸   ENST00000411987
RefSeq Acc Id: ENSP00000397983   ⟸   ENST00000448482
RefSeq Acc Id: ENSP00000170447   ⟸   ENST00000170447
RefSeq Acc Id: ENSP00000503305   ⟸   ENST00000676701
RefSeq Acc Id: ENSP00000503730   ⟸   ENST00000676541
RefSeq Acc Id: ENSP00000504455   ⟸   ENST00000677142
RefSeq Acc Id: ENSP00000502893   ⟸   ENST00000677816
RefSeq Acc Id: ENSP00000503754   ⟸   ENST00000677798
RefSeq Acc Id: ENSP00000504009   ⟸   ENST00000679143
Protein Domains
C3H1-type   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H000-F1-model_v2 AlphaFold Q9H000 1-416 view protein structure

Promoters
RGD ID:6863616
Promoter ID:EPDNEW_H4973
Type:initiation region
Name:MKRN2_1
Description:makorin ring finger protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,557,087 - 12,557,147EPDNEW
RGD ID:6801299
Promoter ID:HG_KWN:43799
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000339679,   OTTHUMT00000339680,   OTTHUMT00000339683,   OTTHUMT00000339684,   UC003BXE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36312,573,321 - 12,573,821 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7113 AgrOrtholog
COSMIC MKRN2 COSMIC
Ensembl Genes ENSG00000075975 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000170447 ENTREZGENE
  ENST00000170447.12 UniProtKB/Swiss-Prot
  ENST00000411987 ENTREZGENE
  ENST00000411987.5 UniProtKB/Swiss-Prot
  ENST00000448482.1 UniProtKB/TrEMBL
  ENST00000676541.1 UniProtKB/TrEMBL
  ENST00000676701.1 UniProtKB/TrEMBL
  ENST00000677142.1 UniProtKB/TrEMBL
  ENST00000677798.1 UniProtKB/TrEMBL
  ENST00000677816.1 UniProtKB/Swiss-Prot
  ENST00000679143.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.30.1190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pneumovirus matrix protein 2 (M2), zinc-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc finger, CCCH-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075975 GTEx
HGNC ID HGNC:7113 ENTREZGENE
Human Proteome Map MKRN2 Human Proteome Map
InterPro MKRN-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C3HC4_RING-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CCCH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23609 UniProtKB/Swiss-Prot
NCBI Gene 23609 ENTREZGENE
OMIM 608426 OMIM
PANTHER PTHR11224 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11224:SF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C3HC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CCCH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30832 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C3H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90229 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V388_HUMAN UniProtKB/TrEMBL
  A0A7I2V422_HUMAN UniProtKB/TrEMBL
  A0A7I2V4L9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5D2_HUMAN UniProtKB/TrEMBL
  A0A7I2YQI0 ENTREZGENE, UniProtKB/TrEMBL
  A6NIA2 ENTREZGENE
  B3KRC5 ENTREZGENE
  B4DPR4 ENTREZGENE
  C9J494 ENTREZGENE, UniProtKB/TrEMBL
  MKRN2_HUMAN UniProtKB/Swiss-Prot
  Q8N391 ENTREZGENE
  Q96BD4 ENTREZGENE
  Q9BUY2 ENTREZGENE
  Q9H000 ENTREZGENE
  Q9NRY1 ENTREZGENE
UniProt Secondary A6NIA2 UniProtKB/Swiss-Prot
  B3KRC5 UniProtKB/Swiss-Prot
  B4DPR4 UniProtKB/Swiss-Prot
  Q8N391 UniProtKB/Swiss-Prot
  Q96BD4 UniProtKB/Swiss-Prot
  Q9BUY2 UniProtKB/Swiss-Prot
  Q9NRY1 UniProtKB/Swiss-Prot