MMRN2 (multimerin 2) - Rat Genome Database

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Gene: MMRN2 (multimerin 2) Homo sapiens
Analyze
Symbol: MMRN2
Name: multimerin 2
RGD ID: 1322933
HGNC Page HGNC:19888
Description: Predicted to be an extracellular matrix structural constituent. Involved in several processes, including negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis; negative regulation of cell migration involved in sprouting angiogenesis; and negative regulation of vascular endothelial growth factor receptor signaling pathway. Located in collagen-containing extracellular matrix and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: elastin microfibril interface located protein 3; elastin microfibril interfacer 3; EMILIN-3; EMILIN-like protein EndoGlyx-1; EMILIN3; EndoGlyx-1; endoGlyx-1 p125/p140 subunit; FLJ13465; multimerin-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100240714  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381086,935,540 - 86,957,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1086,935,540 - 86,969,481 (-)EnsemblGRCh38hg38GRCh38
GRCh371088,695,297 - 88,717,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361088,685,576 - 88,707,352 (-)NCBINCBI36Build 36hg18NCBI36
Build 341088,685,575 - 88,707,352NCBI
Celera1082,698,335 - 82,720,425 (-)NCBICelera
Cytogenetic Map10q23.2NCBI
HuRef1082,549,122 - 82,571,213 (-)NCBIHuRef
CHM1_11088,977,037 - 88,999,158 (-)NCBICHM1_1
T2T-CHM13v2.01087,819,295 - 87,841,328 (-)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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7933987   PMID:8889548   PMID:11559704   PMID:12221002   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16335952   PMID:16420310   PMID:18327805   PMID:19056867   PMID:21873635  
PMID:21988832   PMID:22020326   PMID:22334695   PMID:22532453   PMID:23376485   PMID:23533145   PMID:23979707   PMID:25745997   PMID:28435016   PMID:28671670   PMID:28675934   PMID:28912033  
PMID:29763414   PMID:30544909   PMID:31422156   PMID:32296183   PMID:32393512   PMID:33111431  


Genomics

Comparative Map Data
MMRN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381086,935,540 - 86,957,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1086,935,540 - 86,969,481 (-)EnsemblGRCh38hg38GRCh38
GRCh371088,695,297 - 88,717,372 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361088,685,576 - 88,707,352 (-)NCBINCBI36Build 36hg18NCBI36
Build 341088,685,575 - 88,707,352NCBI
Celera1082,698,335 - 82,720,425 (-)NCBICelera
Cytogenetic Map10q23.2NCBI
HuRef1082,549,122 - 82,571,213 (-)NCBIHuRef
CHM1_11088,977,037 - 88,999,158 (-)NCBICHM1_1
T2T-CHM13v2.01087,819,295 - 87,841,328 (-)NCBIT2T-CHM13v2.0
Mmrn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391434,097,461 - 34,126,244 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1434,097,422 - 34,126,244 (+)EnsemblGRCm39 Ensembl
GRCm381434,375,504 - 34,404,287 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1434,375,465 - 34,404,287 (+)EnsemblGRCm38mm10GRCm38
MGSCv371435,188,690 - 35,217,473 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361433,204,621 - 33,232,834 (+)NCBIMGSCv36mm8
Celera1430,641,747 - 30,669,702 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1420.81NCBI
Mmrn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8169,712,181 - 9,733,653 (+)NCBIGRCr8
mRatBN7.2169,705,925 - 9,727,405 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl169,705,892 - 9,727,405 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx169,726,090 - 9,747,526 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01610,870,804 - 10,892,240 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0169,721,171 - 9,742,604 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01610,727,552 - 10,749,303 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1610,727,571 - 10,749,382 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0169,055,337 - 9,075,346 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41610,031,365 - 10,052,169 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11610,031,524 - 10,051,725 (+)NCBI
Celera165,489,507 - 5,510,959 (-)NCBICelera
Cytogenetic Map16p15NCBI
Mmrn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555105,945,043 - 5,958,352 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555105,943,126 - 5,957,679 (-)NCBIChiLan1.0ChiLan1.0
MMRN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2898,930,555 - 98,966,505 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11098,935,874 - 98,971,822 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01083,363,696 - 83,396,966 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11086,920,521 - 86,956,333 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1086,920,521 - 86,942,777 (-)Ensemblpanpan1.1panPan2
MMRN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1434,577,072 - 34,604,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl434,589,597 - 34,605,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha434,580,472 - 34,595,946 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0434,949,417 - 34,964,896 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl434,950,035 - 34,964,843 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1434,795,071 - 34,810,534 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0434,964,039 - 34,979,464 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0435,469,876 - 35,485,332 (-)NCBIUU_Cfam_GSD_1.0
Mmrn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721343,912,229 - 43,930,881 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493680422,533 - 39,540 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493680422,609 - 39,974 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMRN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1487,896,074 - 87,916,342 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11487,891,585 - 87,916,327 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21495,292,539 - 95,308,417 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMRN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1944,913,403 - 44,934,430 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl944,913,455 - 44,935,112 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660485,020,595 - 5,042,314 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mmrn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624841197,547 - 210,132 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624841196,708 - 212,499 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MMRN2
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1 copy number loss See cases [RCV000052534] Chr10:79719429..87358394 [GRCh38]
Chr10:81479185..89118151 [GRCh37]
Chr10:81149191..89108131 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1 copy number loss See cases [RCV000052537] Chr10:79802022..87358394 [GRCh38]
Chr10:81561459..89118151 [GRCh37]
Chr10:81541288..89108131 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000052539] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1 copy number loss See cases [RCV000052541] Chr10:79898516..86964367 [GRCh38]
Chr10:81658272..88724124 [GRCh37]
Chr10:81648252..88714104 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1 copy number loss See cases [RCV000052542] Chr10:79898516..87358394 [GRCh38]
Chr10:81658272..89118151 [GRCh37]
Chr10:81648252..89108131 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1 copy number loss See cases [RCV000052544] Chr10:79898516..87109827 [GRCh38]
Chr10:81658272..88869584 [GRCh37]
Chr10:81648252..88859564 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q23.1-23.31(chr10:84925492-88002064)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052546]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052546]|See cases [RCV000052546] Chr10:84925492..88002064 [GRCh38]
Chr10:86685248..89761821 [GRCh37]
Chr10:86675228..89751801 [NCBI36]
Chr10:10q23.1-23.31		 pathogenic
GRCh38/hg38 10q23.2-23.31(chr10:86727432-89201768)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052561]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052561]|See cases [RCV000052561] Chr10:86727432..89201768 [GRCh38]
Chr10:88487189..90961525 [GRCh37]
Chr10:88477169..90951505 [NCBI36]
Chr10:10q23.2-23.31		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3 copy number gain See cases [RCV000053558] Chr10:79881238..87182117 [GRCh38]
Chr10:81640994..88941874 [GRCh37]
Chr10:81630974..88931854 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 copy number gain See cases [RCV000053559] Chr10:84434981..89150802 [GRCh38]
Chr10:86194737..90910559 [GRCh37]
Chr10:86184717..90900539 [NCBI36]
Chr10:10q23.1-23.31		 pathogenic
NM_024756.2(MMRN2):c.1170G>A (p.Arg390=) single nucleotide variant Malignant melanoma [RCV000069064] Chr10:86943614 [GRCh38]
Chr10:88703371 [GRCh37]
Chr10:88693351 [NCBI36]
Chr10:10q23.2		 not provided
NM_003087.2(SNCG):c.325G>A (p.Gly109Ser) single nucleotide variant Malignant melanoma [RCV000069065] Chr10:86962637 [GRCh38]
Chr10:88722394 [GRCh37]
Chr10:88712374 [NCBI36]
Chr10:10q23.2		 not provided
GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1 copy number loss See cases [RCV000135348] Chr10:79925613..86951708 [GRCh38]
Chr10:81685369..88711465 [GRCh37]
Chr10:81675349..88701445 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1 copy number loss See cases [RCV000136565] Chr10:79802022..87068261 [GRCh38]
Chr10:81561459..88828018 [GRCh37]
Chr10:81263385..88817998 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 copy number loss See cases [RCV000141724] Chr10:79689360..87223773 [GRCh38]
Chr10:81449116..88983530 [GRCh37]
Chr10:81119122..88973510 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1 copy number loss See cases [RCV000143178] Chr10:79881238..87180672 [GRCh38]
Chr10:81640994..88940429 [GRCh37]
Chr10:81630974..88930409 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000148069] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q23.1-23.31(chr10:86766571-92609514)x1 copy number loss See cases [RCV000447104] Chr10:86766571..92609514 [GRCh37]
Chr10:10q23.1-23.31		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88975551)x1 copy number loss See cases [RCV000447214] Chr10:81630468..88975551 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1 copy number loss See cases [RCV000447520] Chr10:81892411..88722952 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10q23.2-23.31(chr10:88615516-92032083)x3 copy number gain See cases [RCV000448638] Chr10:88615516..92032083 [GRCh37]
Chr10:10q23.2-23.31		 uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88973570)x3 copy number gain See cases [RCV000448704] Chr10:81630468..88973570 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.2(chr10:88581181-88711003)x3 copy number gain See cases [RCV000510286] Chr10:88581181..88711003 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q23.2(chr10:88584364-88711004)x3 copy number gain See cases [RCV000510321] Chr10:88584364..88711004 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1 copy number loss See cases [RCV000511644] Chr10:81597767..88951347 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1 copy number loss See cases [RCV000511659] Chr10:82013260..89166455 [GRCh37]
Chr10:10q23.1-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss See cases [RCV000511693] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_024756.3(MMRN2):c.1915G>A (p.Val639Met) single nucleotide variant Inborn genetic diseases [RCV003278094] Chr10:86942869 [GRCh38]
Chr10:88702626 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1003A>G (p.Thr335Ala) single nucleotide variant Inborn genetic diseases [RCV003249721] Chr10:86943781 [GRCh38]
Chr10:88703538 [GRCh37]
Chr10:10q23.2		 likely benign
NM_024756.3(MMRN2):c.2428C>G (p.Pro810Ala) single nucleotide variant Inborn genetic diseases [RCV003263544] Chr10:86942356 [GRCh38]
Chr10:88702113 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_024756.3(MMRN2):c.383C>A (p.Pro128His) single nucleotide variant Inborn genetic diseases [RCV003250229] Chr10:86945387 [GRCh38]
Chr10:88705144 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q23.2(chr10:88615516-88980546)x1 copy number loss not provided [RCV000683227] Chr10:88615516..88980546 [GRCh37]
Chr10:10q23.2		 likely pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3 copy number gain not provided [RCV000683282] Chr10:81644079..88973306 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic|likely pathogenic
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1 copy number loss not provided [RCV000683284] Chr10:83379241..93219169 [GRCh37]
Chr10:10q23.1-23.32		 pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
NC_000010.10:g.(?_88649809)_(89725239_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000708004]|Juvenile polyposis syndrome [RCV001380556] Chr10:88649809..89725239 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic|likely pathogenic
GRCh37/hg19 10q23.2(chr10:88700638-88718436)x1 copy number loss not provided [RCV000737218] Chr10:88700638..88718436 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88700638-88718833)x0 copy number loss not provided [RCV000737219] Chr10:88700638..88718833 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88700638-88721035)x1 copy number loss not provided [RCV000737220] Chr10:88700638..88721035 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702230-88718436)x1 copy number loss not provided [RCV000737221] Chr10:88702230..88718436 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702230-88719789)x0 copy number loss not provided [RCV000737222] Chr10:88702230..88719789 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702230-88741128)x1 copy number loss not provided [RCV000737223] Chr10:88702230..88741128 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702271-88719789)x1 copy number loss not provided [RCV000737224] Chr10:88702271..88719789 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702271-88741128)x1 copy number loss not provided [RCV000737225] Chr10:88702271..88741128 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702371-88713604)x1 copy number loss not provided [RCV000737226] Chr10:88702371..88713604 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q23.2(chr10:88702371-88717154)x1 copy number loss not provided [RCV000737227] Chr10:88702371..88717154 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_024756.3(MMRN2):c.1939G>T (p.Gly647Trp) single nucleotide variant Inborn genetic diseases [RCV003268872] Chr10:86942845 [GRCh38]
Chr10:88702602 [GRCh37]
Chr10:10q23.2		 uncertain significance
NC_000010.11:g.(?_86668692)_(86954160_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV001033357] Chr10:88428449..88713917 [GRCh37]
Chr10:10q23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847) copy number loss not provided [RCV000767565] Chr10:81697811..88768847 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
NC_000010.11:g.(?_86875868)_(87894129_?)del deletion PTEN hamartoma tumor syndrome [RCV000817289] Chr10:86875868..87894129 [GRCh38]
Chr10:88635625..89653886 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NC_000010.11:g.(?_86838866)_(87965482_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000801362] Chr10:86838866..87965482 [GRCh38]
Chr10:88598623..89725239 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NC_000010.11:g.(?_86755016)_(87965482_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000818563] Chr10:86755016..87965482 [GRCh38]
Chr10:88514773..89725239 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NM_024756.3(MMRN2):c.1917G>T (p.Val639=) single nucleotide variant not provided [RCV000897149] Chr10:86942867 [GRCh38]
Chr10:88702624 [GRCh37]
Chr10:10q23.2		 benign
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss not provided [RCV001006339] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.2(chr10:88586190-88708342)x3 copy number gain not provided [RCV001006344] Chr10:88586190..88708342 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1 copy number loss not provided [RCV002472429] Chr10:82595472..93542416 [GRCh37]
Chr10:10q23.1-23.32		 pathogenic
GRCh37/hg19 10q23.2(chr10:88581433-88708342)x3 copy number gain not provided [RCV002472850] Chr10:88581433..88708342 [GRCh37]
Chr10:10q23.2		 uncertain significance
NC_000010.11:g.(?_86755016)_(87965564_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV001032166]|PTEN hamartoma tumor syndrome [RCV001380352] Chr10:88514773..89725321 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1 copy number loss not provided [RCV001258451] Chr10:81457752..89253430 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
Single allele deletion not provided [RCV001260503] Chr10:81585301..89101700 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1 copy number loss not provided [RCV001258450] Chr10:81617260..89146780 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1 copy number loss not provided [RCV001258457] Chr10:88685387..92144296 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NC_000010.10:g.(?_88683123)_(89725321_?)del deletion Juvenile polyposis syndrome [RCV001380555] Chr10:88683123..89725321 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961) copy number loss Chromosome 10q23 deletion syndrome [RCV002280714] Chr10:81630468..88980961 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1 copy number loss not provided [RCV001827740] Chr10:87232436..89649679 [GRCh37]
Chr10:10q23.1-23.31		 pathogenic
NC_000010.10:g.(?_88441193)_(88722432_?)del deletion Juvenile polyposis syndrome [RCV002002399] Chr10:88441193..88722432 [GRCh37]
Chr10:10q23.2		 pathogenic
GRCh37/hg19 10q23.2(chr10:88639431-88973306)x3 copy number gain not provided [RCV001834488] Chr10:88639431..88973306 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q23.2(chr10:88586207-88708342)x3 copy number gain not provided [RCV001827853] Chr10:88586207..88708342 [GRCh37]
Chr10:10q23.2		 uncertain significance
NC_000010.10:g.(?_88428449)_(89725229_?)del deletion PTEN hamartoma tumor syndrome [RCV003110999] Chr10:88428449..89725229 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
NM_024756.3(MMRN2):c.163C>T (p.Arg55Cys) single nucleotide variant Inborn genetic diseases [RCV003292183] Chr10:86957379 [GRCh38]
Chr10:88717136 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q22.3-23.31(chr10:80585057-89721049)x3 copy number gain not provided [RCV002266548] Chr10:80585057..89721049 [GRCh37]
Chr10:10q22.3-23.31		 not provided
GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1 copy number loss See cases [RCV002287561] Chr10:83533660..91913077 [GRCh37]
Chr10:10q23.1-23.31		 pathogenic
NM_024756.3(MMRN2):c.1230T>G (p.Asp410Glu) single nucleotide variant Inborn genetic diseases [RCV003285573] Chr10:86943554 [GRCh38]
Chr10:88703311 [GRCh37]
Chr10:10q23.2		 likely benign
GRCh37/hg19 10q23.2(chr10:88580250-88708342)x3 copy number gain not provided [RCV002474643] Chr10:88580250..88708342 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1981C>G (p.Arg661Gly) single nucleotide variant Inborn genetic diseases [RCV002682576] Chr10:86942803 [GRCh38]
Chr10:88702560 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1013A>G (p.Lys338Arg) single nucleotide variant Inborn genetic diseases [RCV002841470] Chr10:86943771 [GRCh38]
Chr10:88703528 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2600G>A (p.Arg867His) single nucleotide variant Inborn genetic diseases [RCV002689413] Chr10:86936993 [GRCh38]
Chr10:88696750 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1184A>T (p.Gln395Leu) single nucleotide variant Inborn genetic diseases [RCV002732454] Chr10:86943600 [GRCh38]
Chr10:88703357 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1969G>C (p.Glu657Gln) single nucleotide variant Inborn genetic diseases [RCV002968589] Chr10:86942815 [GRCh38]
Chr10:88702572 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q23.2(chr10:88578693-88863385)x3 copy number gain not provided [RCV002475642] Chr10:88578693..88863385 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1075G>C (p.Gly359Arg) single nucleotide variant Inborn genetic diseases [RCV002692584] Chr10:86943709 [GRCh38]
Chr10:88703466 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.80C>G (p.Thr27Ser) single nucleotide variant Inborn genetic diseases [RCV002737761] Chr10:86957462 [GRCh38]
Chr10:88717219 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1317C>G (p.Asn439Lys) single nucleotide variant Inborn genetic diseases [RCV002694740] Chr10:86943467 [GRCh38]
Chr10:88703224 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1990G>T (p.Ala664Ser) single nucleotide variant Inborn genetic diseases [RCV002798131] Chr10:86942794 [GRCh38]
Chr10:88702551 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2289A>C (p.Glu763Asp) single nucleotide variant Inborn genetic diseases [RCV002925977] Chr10:86942495 [GRCh38]
Chr10:88702252 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1513C>T (p.Arg505Trp) single nucleotide variant Inborn genetic diseases [RCV002954885] Chr10:86943271 [GRCh38]
Chr10:88703028 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.485A>G (p.His162Arg) single nucleotide variant Inborn genetic diseases [RCV002742678] Chr10:86944432 [GRCh38]
Chr10:88704189 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.325G>A (p.Val109Ile) single nucleotide variant Inborn genetic diseases [RCV002929490] Chr10:86945445 [GRCh38]
Chr10:88705202 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1709C>T (p.Ala570Val) single nucleotide variant Inborn genetic diseases [RCV002917053] Chr10:86943075 [GRCh38]
Chr10:88702832 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1294C>A (p.Gln432Lys) single nucleotide variant Inborn genetic diseases [RCV002956450] Chr10:86943490 [GRCh38]
Chr10:88703247 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2096G>A (p.Arg699Gln) single nucleotide variant Inborn genetic diseases [RCV002787968] Chr10:86942688 [GRCh38]
Chr10:88702445 [GRCh37]
Chr10:10q23.2		 likely benign
NM_024756.3(MMRN2):c.1028C>T (p.Ala343Val) single nucleotide variant Inborn genetic diseases [RCV002986081] Chr10:86943756 [GRCh38]
Chr10:88703513 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2017C>T (p.Arg673Trp) single nucleotide variant Inborn genetic diseases [RCV002878839] Chr10:86942767 [GRCh38]
Chr10:88702524 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.568C>T (p.Arg190Trp) single nucleotide variant Inborn genetic diseases [RCV002669421] Chr10:86944349 [GRCh38]
Chr10:88704106 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2224C>T (p.Arg742Cys) single nucleotide variant Inborn genetic diseases [RCV002898382] Chr10:86942560 [GRCh38]
Chr10:88702317 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1933G>A (p.Ala645Thr) single nucleotide variant Inborn genetic diseases [RCV002747803] Chr10:86942851 [GRCh38]
Chr10:88702608 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2415A>G (p.Ile805Met) single nucleotide variant Inborn genetic diseases [RCV002936058] Chr10:86942369 [GRCh38]
Chr10:88702126 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.918G>T (p.Gln306His) single nucleotide variant Inborn genetic diseases [RCV002835895] Chr10:86943866 [GRCh38]
Chr10:88703623 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.191A>G (p.Lys64Arg) single nucleotide variant Inborn genetic diseases [RCV002989357] Chr10:86945663 [GRCh38]
Chr10:88705420 [GRCh37]
Chr10:10q23.2		 likely benign
NM_024756.3(MMRN2):c.841G>A (p.Val281Met) single nucleotide variant Inborn genetic diseases [RCV002959743] Chr10:86943943 [GRCh38]
Chr10:88703700 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2626G>A (p.Val876Ile) single nucleotide variant Inborn genetic diseases [RCV003297811] Chr10:86936967 [GRCh38]
Chr10:88696724 [GRCh37]
Chr10:10q23.2		 likely benign
NM_024756.3(MMRN2):c.2047G>C (p.Asp683His) single nucleotide variant Inborn genetic diseases [RCV003190056] Chr10:86942737 [GRCh38]
Chr10:88702494 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.62G>C (p.Trp21Ser) single nucleotide variant Inborn genetic diseases [RCV003211857] Chr10:86957480 [GRCh38]
Chr10:88717237 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2294A>G (p.Asn765Ser) single nucleotide variant Inborn genetic diseases [RCV003283724] Chr10:86942490 [GRCh38]
Chr10:88702247 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.611G>A (p.Gly204Asp) single nucleotide variant Inborn genetic diseases [RCV003208496] Chr10:86944306 [GRCh38]
Chr10:88704063 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1472A>G (p.Asp491Gly) single nucleotide variant Inborn genetic diseases [RCV003265906] Chr10:86943312 [GRCh38]
Chr10:88703069 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3 copy number gain See cases [RCV003329515] Chr10:81611360..89264122 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
NM_024756.3(MMRN2):c.163C>G (p.Arg55Gly) single nucleotide variant Inborn genetic diseases [RCV003343365] Chr10:86957379 [GRCh38]
Chr10:88717136 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.592C>G (p.Leu198Val) single nucleotide variant Inborn genetic diseases [RCV003359001] Chr10:86944325 [GRCh38]
Chr10:88704082 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.1576C>T (p.Arg526Trp) single nucleotide variant Inborn genetic diseases [RCV003345232] Chr10:86943208 [GRCh38]
Chr10:88702965 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.808C>T (p.Arg270Cys) single nucleotide variant Inborn genetic diseases [RCV003355257] Chr10:86943976 [GRCh38]
Chr10:88703733 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.518A>C (p.Gln173Pro) single nucleotide variant Inborn genetic diseases [RCV003366748] Chr10:86944399 [GRCh38]
Chr10:88704156 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.2105A>G (p.Gln702Arg) single nucleotide variant Inborn genetic diseases [RCV003364553] Chr10:86942679 [GRCh38]
Chr10:88702436 [GRCh37]
Chr10:10q23.2		 uncertain significance
NM_024756.3(MMRN2):c.458A>G (p.Asp153Gly) single nucleotide variant Inborn genetic diseases [RCV003368759] Chr10:86945211 [GRCh38]
Chr10:88704968 [GRCh37]
Chr10:10q23.2		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1 copy number loss not specified [RCV003986869] Chr10:88121043..93641582 [GRCh37]
Chr10:10q23.2-23.32		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2278
Count of miRNA genes:892
Interacting mature miRNAs:1029
Transcripts:ENST00000372027, ENST00000474994, ENST00000488950, ENST00000608090, ENST00000608753, ENST00000609457, ENST00000610081
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D10S1687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,699,458 - 88,699,651UniSTSGRCh37
Build 361088,689,438 - 88,689,631RGDNCBI36
Celera1082,702,497 - 82,702,668RGD
Cytogenetic Map10q23.2UniSTS
HuRef1082,553,272 - 82,553,441UniSTS
Marshfield Genetic Map10107.72RGD
Marshfield Genetic Map10107.72UniSTS
Genethon Genetic Map10113.2UniSTS
deCODE Assembly Map10107.34UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH46907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,695,705 - 88,695,892UniSTSGRCh37
Build 361088,685,685 - 88,685,872RGDNCBI36
Celera1082,698,743 - 82,698,930RGD
Cytogenetic Map10q23.2UniSTS
HuRef1082,549,530 - 82,549,717UniSTS
GeneMap99-GB4 RH Map10419.01UniSTS
SHGC-152407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,699,485 - 88,699,623UniSTSGRCh37
GRCh371088,699,485 - 88,699,595UniSTSGRCh37
GRCh371088,699,485 - 88,699,587UniSTSGRCh37
Build 361088,689,465 - 88,689,575RGDNCBI36
Celera1082,702,524 - 82,702,626UniSTS
Celera1082,702,524 - 82,702,640RGD
Cytogenetic Map10q23.2UniSTS
HuRef1082,553,299 - 82,553,401UniSTS
HuRef1082,553,299 - 82,553,413UniSTS
TNG Radiation Hybrid Map1343764.0UniSTS
STS-AA025351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,695,303 - 88,695,427UniSTSGRCh37
Build 361088,685,283 - 88,685,407RGDNCBI36
Celera1082,698,341 - 82,698,465RGD
Cytogenetic Map10q23.2UniSTS
HuRef1082,549,128 - 82,549,252UniSTS
GeneMap99-GB4 RH Map10418.49UniSTS
ksks370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371088,696,452 - 88,696,783UniSTSGRCh37
Celera1082,699,490 - 82,699,821UniSTS
HuRef1082,550,277 - 82,550,608UniSTS


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 1820 2085 1112 186 437 64 3471 1624 972 273 835 1326 126 1204 2256 3
Low 546 190 590 424 224 385 820 531 2697 114 586 160 47 1 532 2 2
Below cutoff 55 704 22 12 1120 14 50 32 54 26 31 109 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM673127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC416005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W38498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372027   ⟹   ENSP00000361097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,935,540 - 86,957,615 (-)Ensembl
RefSeq Acc Id: ENST00000474994   ⟹   ENSP00000473405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,944,364 - 86,969,481 (-)Ensembl
RefSeq Acc Id: ENST00000488950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,943,871 - 86,944,571 (-)Ensembl
RefSeq Acc Id: ENST00000608090   ⟹   ENSP00000476355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,945,222 - 86,957,571 (-)Ensembl
RefSeq Acc Id: ENST00000608753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,945,481 - 86,957,585 (-)Ensembl
RefSeq Acc Id: ENST00000609457   ⟹   ENSP00000476378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,943,872 - 86,969,312 (-)Ensembl
RefSeq Acc Id: ENST00000610081   ⟹   ENSP00000477052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1086,943,821 - 86,954,258 (-)Ensembl
RefSeq Acc Id: NM_024756   ⟹   NP_079032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,935,540 - 86,957,615 (-)NCBI
GRCh371088,695,297 - 88,717,425 (-)RGD
Build 361088,685,576 - 88,707,352 (-)NCBI Archive
Celera1082,698,335 - 82,720,425 (-)RGD
HuRef1082,549,122 - 82,571,213 (-)RGD
CHM1_11088,977,037 - 88,999,158 (-)NCBI
T2T-CHM13v2.01087,819,295 - 87,841,328 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_079032   ⟸   NM_024756
- Peptide Label: precursor
- UniProtKB: Q504V7 (UniProtKB/Swiss-Prot),   Q6P2N2 (UniProtKB/Swiss-Prot),   Q9H8L6 (UniProtKB/Swiss-Prot),   B4E3H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000476378   ⟸   ENST00000609457
RefSeq Acc Id: ENSP00000361097   ⟸   ENST00000372027
RefSeq Acc Id: ENSP00000477052   ⟸   ENST00000610081
RefSeq Acc Id: ENSP00000473405   ⟸   ENST00000474994
RefSeq Acc Id: ENSP00000476355   ⟸   ENST00000608090
Protein Domains
C1q   EMI

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H8L6-F1-model_v2 AlphaFold Q9H8L6 1-949 view protein structure

Promoters
RGD ID:7218033
Promoter ID:EPDNEW_H14762
Type:initiation region
Name:MMRN2_1
Description:multimerin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14766  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381086,957,615 - 86,957,675EPDNEW
RGD ID:6809845
Promoter ID:HG_ACW:8957
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MMRN2.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361088,703,836 - 88,704,336 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19888 AgrOrtholog
COSMIC MMRN2 COSMIC
Ensembl Genes ENSG00000173269 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372027 ENTREZGENE
  ENST00000372027.10 UniProtKB/Swiss-Prot
  ENST00000474994.2 UniProtKB/TrEMBL
  ENST00000608090.1 UniProtKB/TrEMBL
  ENST00000609457.5 UniProtKB/TrEMBL
  ENST00000610081.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173269 GTEx
HGNC ID HGNC:19888 ENTREZGENE
Human Proteome Map MMRN2 Human Proteome Map
InterPro C1q_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EMI_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79812 UniProtKB/Swiss-Prot
NCBI Gene 79812 ENTREZGENE
OMIM 608925 OMIM
PANTHER EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTIMERIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EMI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134991578 PharmGKB
PRINTS COMPLEMNTC1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EMI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E3H8 ENTREZGENE, UniProtKB/TrEMBL
  L8E8T6_HUMAN UniProtKB/TrEMBL
  MMRN2_HUMAN UniProtKB/Swiss-Prot
  Q504V7 ENTREZGENE
  Q6P2N2 ENTREZGENE
  Q9H8L6 ENTREZGENE
  R4GMY6_HUMAN UniProtKB/TrEMBL
  V9GY37_HUMAN UniProtKB/TrEMBL
  V9GY43_HUMAN UniProtKB/TrEMBL
  V9GYS9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q504V7 UniProtKB/Swiss-Prot
  Q6P2N2 UniProtKB/Swiss-Prot