MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) - Rat Genome Database

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Gene: MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) Homo sapiens
Analyze
Symbol: MDGA2
Name: MAM domain containing glycosylphosphatidylinositol anchor 2
RGD ID: 1343433
HGNC Page HGNC:19835
Description: Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: c14_5286; MAM domain containing 1; MAM domain-containing glycosylphosphatidylinositol anchor protein 2; MAM domain-containing protein 1; MAMDC1
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
GRCh381446,839,623 - 47,675,605 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1446,840,092 - 47,675,605 (-)EnsemblGRCh38hg38GRCh38
GRCh371447,308,826 - 48,144,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361446,379,045 - 46,882,145 (-)NCBINCBI36Build 36hg18NCBI36
Build 341446,379,045 - 46,882,145NCBI
Celera1427,169,381 - 28,004,719 (-)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1427,426,615 - 28,261,881 (-)NCBIHuRef
CHM1_11447,247,613 - 48,082,719 (-)NCBICHM1_1
T2T-CHM13v2.01441,038,514 - 41,874,449 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12477932   PMID:12508121   PMID:12975309   PMID:14702039   PMID:15019943   PMID:16344560   PMID:17903294   PMID:18029348   PMID:18762592   PMID:19440164   PMID:19557195   PMID:19913121  
PMID:19997561   PMID:20125193   PMID:20379614   PMID:20628086   PMID:21399569   PMID:21542908   PMID:21660437   PMID:21873635   PMID:22445761   PMID:22491018   PMID:23251661   PMID:23358245  
PMID:23382691   PMID:24429156   PMID:26206665   PMID:29117863   PMID:32393512  


Genomics

Comparative Map Data
MDGA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381446,839,623 - 47,675,605 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1446,840,092 - 47,675,605 (-)EnsemblGRCh38hg38GRCh38
GRCh371447,308,826 - 48,144,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361446,379,045 - 46,882,145 (-)NCBINCBI36Build 36hg18NCBI36
Build 341446,379,045 - 46,882,145NCBI
Celera1427,169,381 - 28,004,719 (-)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1427,426,615 - 28,261,881 (-)NCBIHuRef
CHM1_11447,247,613 - 48,082,719 (-)NCBICHM1_1
T2T-CHM13v2.01441,038,514 - 41,874,449 (-)NCBIT2T-CHM13v2.0
Mdga2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391266,512,832 - 67,269,323 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1266,512,834 - 67,269,323 (-)EnsemblGRCm39 Ensembl
GRCm381266,459,419 - 67,222,549 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1266,466,060 - 67,222,549 (-)EnsemblGRCm38mm10GRCm38
MGSCv371267,572,169 - 68,322,190 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361267,389,787 - 68,139,808 (-)NCBIMGSCv36mm8
Celera1267,602,561 - 68,352,775 (-)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1227.63NCBI
Mdga2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8690,482,687 - 91,346,784 (-)NCBIGRCr8
mRatBN7.2684,746,422 - 85,608,640 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl684,761,941 - 85,608,126 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx685,123,229 - 85,979,390 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0685,422,600 - 86,278,801 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0684,864,059 - 85,717,130 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0688,442,620 - 89,292,454 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl688,447,749 - 88,917,070 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0697,916,163 - 98,773,394 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4688,155,407 - 89,020,699 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1688,158,867 - 89,024,155 (-)NCBI
Celera683,298,219 - 84,140,941 (-)NCBICelera
Cytogenetic Map6q24NCBI
Mdga2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540914,684,611 - 15,449,388 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540914,684,252 - 15,449,388 (+)NCBIChiLan1.0ChiLan1.0
MDGA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21547,971,234 - 48,818,509 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11447,187,743 - 48,036,253 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01427,434,904 - 28,274,969 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11445,752,214 - 46,584,148 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1445,752,214 - 46,583,991 (-)Ensemblpanpan1.1panPan2
MDGA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1823,827,284 - 24,608,003 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl823,832,475 - 24,607,866 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha823,644,302 - 23,948,023 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0823,992,881 - 24,785,403 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl823,999,793 - 24,785,345 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1823,651,714 - 24,434,692 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0823,720,107 - 24,501,367 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0824,049,174 - 24,831,369 (-)NCBIUU_Cfam_GSD_1.0
Mdga2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864055,878,524 - 56,640,257 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365832,048,733 - 2,804,135 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365832,048,655 - 2,804,135 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MDGA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1176,770,071 - 177,593,876 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11176,770,045 - 177,595,012 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21196,939,349 - 197,065,369 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MDGA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12423,853,710 - 24,705,276 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2423,856,533 - 24,318,531 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605312,230,959 - 13,075,887 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mdga2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473120,951,954 - 21,754,936 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473120,951,651 - 21,760,267 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MDGA2
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q21.3(chr14:47284994-47468193)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051948]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051948]|See cases [RCV000051948] Chr14:47284994..47468193 [GRCh38]
Chr14:47754197..47937396 [GRCh37]
Chr14:46823947..47007146 [NCBI36]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+51702C>A single nucleotide variant Lung cancer [RCV000098883] Chr14:47622815 [GRCh38]
Chr14:48092018 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.2676+259G>A single nucleotide variant Lung cancer [RCV000098866] Chr14:46854765 [GRCh38]
Chr14:47323968 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.1319-1317C>G single nucleotide variant Lung cancer [RCV000098867] Chr14:47036621 [GRCh38]
Chr14:47505824 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.988+14329T>A single nucleotide variant Lung cancer [RCV000098868] Chr14:47082525 [GRCh38]
Chr14:47551728 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.988+14205G>T single nucleotide variant Lung cancer [RCV000098869] Chr14:47082649 [GRCh38]
Chr14:47551852 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.389-15413A>G single nucleotide variant Lung cancer [RCV000098870] Chr14:47159687 [GRCh38]
Chr14:47628890 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.388+25130A>T single nucleotide variant Lung cancer [RCV000098871] Chr14:47192891 [GRCh38]
Chr14:47662094 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.214-32298C>A single nucleotide variant Lung cancer [RCV000098872] Chr14:47250493 [GRCh38]
Chr14:47719696 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.213+1081G>T single nucleotide variant Lung cancer [RCV000098873] Chr14:47300330 [GRCh38]
Chr14:47769533 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.74-4336T>A single nucleotide variant Lung cancer [RCV000098874] Chr14:47305886 [GRCh38]
Chr14:47775089 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.74-55234G>A single nucleotide variant Lung cancer [RCV000098875] Chr14:47356784 [GRCh38]
Chr14:47825987 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.74-56585T>C single nucleotide variant Lung cancer [RCV000098876] Chr14:47358135 [GRCh38]
Chr14:47827338 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+142106T>A single nucleotide variant Lung cancer [RCV000098877] Chr14:47532411 [GRCh38]
Chr14:48001614 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+131464T>C single nucleotide variant Lung cancer [RCV000098878] Chr14:47543053 [GRCh38]
Chr14:48012256 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+100461G>T single nucleotide variant Lung cancer [RCV000098879] Chr14:47574056 [GRCh38]
Chr14:48043259 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+81178A>G single nucleotide variant Lung cancer [RCV000098880] Chr14:47593339 [GRCh38]
Chr14:48062542 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+74063G>C single nucleotide variant Lung cancer [RCV000098881] Chr14:47600454 [GRCh38]
Chr14:48069657 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.2(MDGA2):c.73+74027C>A single nucleotide variant Lung cancer [RCV000098882] Chr14:47600490 [GRCh38]
Chr14:48069693 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q21.3(chr14:47134826-47168031)x1 copy number loss See cases [RCV000141297] Chr14:47134826..47168031 [GRCh38]
Chr14:47604029..47637234 [GRCh37]
Chr14:46673779..46706984 [NCBI36]
Chr14:14q21.3
uncertain significance
GRCh38/hg38 14q21.2-21.3(chr14:45994462-47317094)x3 copy number gain See cases [RCV000141329] Chr14:45994462..47317094 [GRCh38]
Chr14:46463665..47786297 [GRCh37]
Chr14:45533415..46856047 [NCBI36]
Chr14:14q21.2-21.3
uncertain significance
GRCh38/hg38 14q21.3(chr14:47659636-47746404)x1 copy number loss See cases [RCV000141330] Chr14:47659636..47746404 [GRCh38]
Chr14:48128839..48215607 [GRCh37]
Chr14:47198589..47285357 [NCBI36]
Chr14:14q21.3
uncertain significance
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3
likely pathogenic
GRCh38/hg38 14q21.3(chr14:47284994-47805206)x3 copy number gain See cases [RCV000142539] Chr14:47284994..47805206 [GRCh38]
Chr14:47754197..48274409 [GRCh37]
Chr14:46823947..47344159 [NCBI36]
Chr14:14q21.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q21.2-21.3(chr14:47019703-47572794)x3 copy number gain See cases [RCV000447485] Chr14:47019703..47572794 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
GRCh37/hg19 14q21.2-21.3(chr14:47128671-47445704)x1 copy number loss See cases [RCV000446374] Chr14:47128671..47445704 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q21.3(chr14:47827176-47879779)x1 copy number loss not provided [RCV000683576] Chr14:47827176..47879779 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q21.3(chr14:47708397-47716344)x1 copy number loss not provided [RCV000738482] Chr14:47708397..47716344 [GRCh37]
Chr14:14q21.3
benign
GRCh37/hg19 14q21.3(chr14:47855051-48037380)x1 copy number loss not provided [RCV000738483] Chr14:47855051..48037380 [GRCh37]
Chr14:14q21.3
benign
GRCh37/hg19 14q21.3(chr14:47937849-48024837)x1 copy number loss not provided [RCV000738484] Chr14:47937849..48024837 [GRCh37]
Chr14:14q21.3
benign
GRCh37/hg19 14q21.3(chr14:47966854-48016461)x1 copy number loss not provided [RCV000738485] Chr14:47966854..48016461 [GRCh37]
Chr14:14q21.3
benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q21.2-21.3(chr14:47115948-47560532)x3 copy number gain not provided [RCV000751012] Chr14:47115948..47560532 [GRCh37]
Chr14:14q21.2-21.3
benign
GRCh37/hg19 14q21.3(chr14:47310983-47453053)x3 copy number gain not provided [RCV000751013] Chr14:47310983..47453053 [GRCh37]
Chr14:14q21.3
benign
NM_001113498.3(MDGA2):c.1980G>C (p.Gln660His) single nucleotide variant not provided [RCV000904417] Chr14:46957483 [GRCh38]
Chr14:47426686 [GRCh37]
Chr14:14q21.3
benign
NM_001113498.3(MDGA2):c.1107C>T (p.Ile369=) single nucleotide variant not provided [RCV000954742] Chr14:47096942 [GRCh38]
Chr14:47566145 [GRCh37]
Chr14:14q21.3
benign
NM_001113498.3(MDGA2):c.896T>C (p.Met299Thr) single nucleotide variant not provided [RCV000881534] Chr14:47131743 [GRCh38]
Chr14:47600946 [GRCh37]
Chr14:14q21.3
benign
GRCh37/hg19 14q21.3(chr14:47298504-47459428)x1 copy number loss not provided [RCV001006631] Chr14:47298504..47459428 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.2-21.3(chr14:47198212-47368952)x1 copy number loss not provided [RCV000846402] Chr14:47198212..47368952 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
GRCh37/hg19 14q21.3(chr14:48120308-48277276)x3 copy number gain not provided [RCV000846434] Chr14:48120308..48277276 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.558G>T (p.Gly186=) single nucleotide variant not provided [RCV000910550] Chr14:47218058 [GRCh38]
Chr14:47687261 [GRCh37]
Chr14:14q21.3
likely benign
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q21.3(chr14:47808710-47906539)x1 copy number loss not provided [RCV001259664] Chr14:47808710..47906539 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.335A>G (p.Glu112Gly) single nucleotide variant Seizure [RCV001255003] Chr14:47301496 [GRCh38]
Chr14:47770699 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.3(chr14:47463065-48139966)x1 copy number loss not provided [RCV001795861] Chr14:47463065..48139966 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.3(chr14:47936349-48997806) copy number loss not specified [RCV002053101] Chr14:47936349..48997806 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.3(chr14:47312419-47687386)x1 copy number loss not provided [RCV001834184] Chr14:47312419..47687386 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931) copy number gain not specified [RCV002053098] Chr14:45827312..50529931 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
GRCh37/hg19 14q21.2-21.3(chr14:47128671-47445704) copy number loss not specified [RCV002053099] Chr14:47128671..47445704 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs) duplication Intellectual disability [RCV002287842] Chr14:47674517..47674518 [GRCh38]
Chr14:48143720..48143721 [GRCh37]
Chr14:14q21.3
likely pathogenic
NM_001113498.3(MDGA2):c.1246G>A (p.Asp416Asn) single nucleotide variant Inborn genetic diseases [RCV002734396] Chr14:47061528 [GRCh38]
Chr14:47530731 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.686T>C (p.Val229Ala) single nucleotide variant Inborn genetic diseases [RCV002794451] Chr14:47144184 [GRCh38]
Chr14:47613387 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.2519A>G (p.Gln840Arg) single nucleotide variant Inborn genetic diseases [RCV002788013] Chr14:46874119 [GRCh38]
Chr14:47343322 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.886C>T (p.Pro296Ser) single nucleotide variant Inborn genetic diseases [RCV002853563] Chr14:47131753 [GRCh38]
Chr14:47600956 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.1876G>A (p.Val626Ile) single nucleotide variant Inborn genetic diseases [RCV002878651] Chr14:46957587 [GRCh38]
Chr14:47426790 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.906T>G (p.Phe302Leu) single nucleotide variant Inborn genetic diseases [RCV002961413] Chr14:47131733 [GRCh38]
Chr14:47600936 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.568A>G (p.Ile190Val) single nucleotide variant Inborn genetic diseases [RCV003215208] Chr14:47218048 [GRCh38]
Chr14:47687251 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.1168A>G (p.Lys390Glu) single nucleotide variant Inborn genetic diseases [RCV003210023] Chr14:47096881 [GRCh38]
Chr14:47566084 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.1606G>A (p.Val536Ile) single nucleotide variant Inborn genetic diseases [RCV003204979] Chr14:47035224 [GRCh38]
Chr14:47504427 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.343T>G (p.Ser115Ala) single nucleotide variant Inborn genetic diseases [RCV003217074] Chr14:47301488 [GRCh38]
Chr14:47770691 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001113498.3(MDGA2):c.2167A>T (p.Ser723Cys) single nucleotide variant Inborn genetic diseases [RCV003203717] Chr14:46920083 [GRCh38]
Chr14:47389286 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1
pathogenic
GRCh37/hg19 14q21.2-21.3(chr14:47019704-47575793)x3 copy number gain not provided [RCV003485032] Chr14:47019704..47575793 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3430
Count of miRNA genes:1074
Interacting mature miRNAs:1285
Transcripts:ENST00000357362, ENST00000399222, ENST00000399232, ENST00000426342, ENST00000439988, ENST00000472499, ENST00000482848, ENST00000486952, ENST00000554762, ENST00000555521, ENST00000557238, ENST00000557516
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
D14S1009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,545,671 - 47,545,924UniSTSGRCh37
Build 361446,615,421 - 46,615,674RGDNCBI36
Celera1427,406,212 - 27,406,465RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,663,420 - 27,663,673UniSTS
Marshfield Genetic Map1450.5UniSTS
Marshfield Genetic Map1450.5RGD
Genethon Genetic Map1441.9UniSTS
deCODE Assembly Map1445.42UniSTS
D14S541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,626,715 - 47,626,882UniSTSGRCh37
Celera1427,487,243 - 27,487,410UniSTS
HuRef1427,744,430 - 27,744,595UniSTS
Marshfield Genetic Map1451.09RGD
D14S748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,081,278 - 48,081,514UniSTSGRCh37
Build 361447,151,028 - 47,151,264RGDNCBI36
Celera1427,941,841 - 27,942,077RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,199,059 - 28,199,303UniSTS
Marshfield Genetic Map1451.09UniSTS
Marshfield Genetic Map1451.09RGD
TNG Radiation Hybrid Map1412547.0UniSTS
deCODE Assembly Map1445.42UniSTS
Stanford-G3 RH Map141397.0UniSTS
Whitehead-RH Map14155.0UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14497.4UniSTS
D22S273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,427,808 - 47,429,305UniSTSGRCh37
GRCh372232,252,078 - 32,252,259UniSTSGRCh37
Build 362230,582,078 - 30,582,259RGDNCBI36
Celera2216,052,525 - 16,052,708RGD
Celera1427,288,354 - 27,289,847UniSTS
Cytogenetic Map14q21.3UniSTS
HuRef1427,545,755 - 27,547,245UniSTS
HuRef2215,207,687 - 15,207,870UniSTS
Marshfield Genetic Map2229.66UniSTS
Marshfield Genetic Map2229.66RGD
Genethon Genetic Map2224.3UniSTS
TNG Radiation Hybrid Map226575.0UniSTS
Stanford-G3 RH Map22722.0UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22137.8UniSTS
GeneMap99-G3 RH Map22722.0UniSTS
D14S976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,088,235 - 48,088,406UniSTSGRCh37
Build 361447,157,985 - 47,158,156RGDNCBI36
Celera1427,948,798 - 27,948,971RGD
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map14q21.2-q22.3UniSTS
HuRef1428,206,027 - 28,206,200UniSTS
Marshfield Genetic Map1450.5RGD
Marshfield Genetic Map1450.5UniSTS
Genethon Genetic Map1441.9UniSTS
TNG Radiation Hybrid Map1412537.0UniSTS
Whitehead-YAC Contig Map14 UniSTS
WIAF-2147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,309,395 - 47,309,525UniSTSGRCh37
Build 361446,379,145 - 46,379,275RGDNCBI36
Celera1427,169,950 - 27,170,080RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,427,184 - 27,427,314UniSTS
GeneMap99-GB4 RH Map14109.25UniSTS
NCBI RH Map14475.6UniSTS
RH44884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,020,046 - 48,020,144UniSTSGRCh37
Build 361447,089,796 - 47,089,894RGDNCBI36
Celera1427,880,604 - 27,880,702RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,137,695 - 28,137,793UniSTS
GeneMap99-GB4 RH Map14109.32UniSTS
NCBI RH Map14497.4UniSTS
D14S755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,949,075 - 47,949,300UniSTSGRCh37
Build 361447,018,825 - 47,019,050RGDNCBI36
Celera1427,809,628 - 27,809,853RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,066,858 - 28,067,083UniSTS
Whitehead-RH Map14152.4UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14475.6UniSTS
WI-10389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,997,643 - 47,997,768UniSTSGRCh37
Build 361447,067,393 - 47,067,518RGDNCBI36
Celera1427,858,201 - 27,858,326RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,115,431 - 28,115,556UniSTS
Whitehead-RH Map14149.2UniSTS
D14S1277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,721,071 - 47,721,191UniSTSGRCh37
Build 361446,790,821 - 46,790,941RGDNCBI36
Celera1427,581,601 - 27,581,721RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,838,790 - 27,838,910UniSTS
D14S595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,721,105 - 47,721,191UniSTSGRCh37
Build 361446,790,855 - 46,790,941RGDNCBI36
Celera1427,581,635 - 27,581,721RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,838,824 - 27,838,910UniSTS
D14S88E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,128,055 - 48,128,138UniSTSGRCh37
GRCh371448,128,045 - 48,128,207UniSTSGRCh37
Build 361447,197,795 - 47,197,957RGDNCBI36
Celera1427,988,606 - 27,988,768RGD
Celera1427,988,616 - 27,988,699UniSTS
Cytogenetic Map14q21.3UniSTS
HuRef1428,245,837 - 28,245,999UniSTS
HuRef1428,245,847 - 28,245,930UniSTS
TNG Radiation Hybrid Map1412534.0UniSTS
GeneMap99-G3 RH Map141445.0UniSTS
SHGC-83187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,834,243 - 47,834,513UniSTSGRCh37
Build 361446,903,993 - 46,904,263RGDNCBI36
Celera1427,694,783 - 27,695,053RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,951,810 - 27,952,080UniSTS
TNG Radiation Hybrid Map1412672.0UniSTS
SHGC-84575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,102,643 - 48,102,913UniSTSGRCh37
Build 361447,172,393 - 47,172,663RGDNCBI36
Celera1427,963,209 - 27,963,479RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,220,440 - 28,220,710UniSTS
TNG Radiation Hybrid Map1412530.0UniSTS
RH119408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,565,747 - 47,566,079UniSTSGRCh37
Build 361446,635,497 - 46,635,829RGDNCBI36
Celera1427,426,299 - 27,426,631RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,683,492 - 27,683,824UniSTS
TNG Radiation Hybrid Map1412847.0UniSTS
RH122624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,976,708 - 47,977,056UniSTSGRCh37
Build 361447,046,458 - 47,046,806RGDNCBI36
Celera1427,837,266 - 27,837,614RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,094,498 - 28,094,846UniSTS
TNG Radiation Hybrid Map1412581.0UniSTS
G59660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,731,740 - 47,731,939UniSTSGRCh37
Build 361446,801,490 - 46,801,689RGDNCBI36
Celera1427,592,270 - 27,592,469RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,849,459 - 27,849,658UniSTS
TNG Radiation Hybrid Map1412714.0UniSTS
TNG Radiation Hybrid Map1412728.0UniSTS
G59828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,949,075 - 47,949,270UniSTSGRCh37
Build 361447,018,825 - 47,019,020RGDNCBI36
Celera1427,809,628 - 27,809,823RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,066,858 - 28,067,053UniSTS
TNG Radiation Hybrid Map1412602.0UniSTS
D14S150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,035,605 - 48,036,399UniSTSGRCh37
Build 361447,105,355 - 47,106,149RGDNCBI36
Celera1427,896,162 - 27,896,955RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,153,225 - 28,154,019UniSTS
SHGC-105251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,670,451 - 47,670,722UniSTSGRCh37
Build 361446,740,201 - 46,740,472RGDNCBI36
Celera1427,530,980 - 27,531,251RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,788,167 - 27,788,438UniSTS
TNG Radiation Hybrid Map1412790.0UniSTS
SHGC-105707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,843,382 - 47,843,677UniSTSGRCh37
Build 361446,913,132 - 46,913,427RGDNCBI36
Celera1427,703,923 - 27,704,218RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,961,273 - 27,961,568UniSTS
TNG Radiation Hybrid Map1412662.0UniSTS
SHGC-144123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,776,945 - 47,777,290UniSTSGRCh37
Build 361446,846,695 - 46,847,040RGDNCBI36
Celera1427,637,459 - 27,637,804RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,894,525 - 27,894,870UniSTS
TNG Radiation Hybrid Map1412698.0UniSTS
SHGC-144273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,976,268 - 47,976,601UniSTSGRCh37
Build 361447,046,018 - 47,046,351RGDNCBI36
Celera1427,836,826 - 27,837,159RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,094,058 - 28,094,391UniSTS
TNG Radiation Hybrid Map1412581.0UniSTS
SHGC-145243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,123,891 - 48,124,197UniSTSGRCh37
Build 361447,193,641 - 47,193,947RGDNCBI36
Celera1427,984,452 - 27,984,758RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,241,683 - 28,241,989UniSTS
TNG Radiation Hybrid Map1412526.0UniSTS
D14S743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,853,138 - 47,853,271UniSTSGRCh37
Build 361446,922,888 - 46,923,021RGDNCBI36
Celera1427,713,687 - 27,713,828RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,971,037 - 27,971,178UniSTS
RH47671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,036,131 - 48,036,259UniSTSGRCh37
Build 361447,105,881 - 47,106,009RGDNCBI36
Celera1427,896,687 - 27,896,815RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,153,751 - 28,153,879UniSTS
GeneMap99-GB4 RH Map14109.25UniSTS
NCBI RH Map14475.6UniSTS
STS-AA019736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,030,396 - 48,030,626UniSTSGRCh37
Build 361447,100,146 - 47,100,376RGDNCBI36
Celera1427,890,957 - 27,891,187RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,148,020 - 28,148,250UniSTS
GeneMap99-GB4 RH Map14107.9UniSTS
NCBI RH Map14475.6UniSTS
SHGC-79318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,869,114 - 47,869,456UniSTSGRCh37
Build 361446,938,864 - 46,939,206RGDNCBI36
Celera1427,729,670 - 27,730,012RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,987,020 - 27,987,362UniSTS
TNG Radiation Hybrid Map1412629.0UniSTS
D14S1239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,673,113 - 47,673,388UniSTSGRCh37
Build 361446,742,863 - 46,743,138RGDNCBI36
Celera1427,533,642 - 27,533,917RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,790,829 - 27,791,104UniSTS
Whitehead-RH Map14152.7UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14461.5UniSTS
D14S613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,570,219 - 47,570,369UniSTSGRCh37
Build 361446,639,969 - 46,640,119RGDNCBI36
Celera1427,430,771 - 27,430,920RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,687,966 - 27,688,120UniSTS
Whitehead-RH Map14149.9UniSTS
NCBI RH Map14475.6UniSTS
D14S869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,775,103 - 47,775,302UniSTSGRCh37
Build 361446,844,853 - 46,845,052RGDNCBI36
Celera1427,635,631 - 27,635,830RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,892,697 - 27,892,896UniSTS
Whitehead-RH Map14154.2UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14475.6UniSTS
STS-M78666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,128,207 - 48,128,294UniSTSGRCh37
Build 361447,197,957 - 47,198,044RGDNCBI36
Celera1427,988,768 - 27,988,855RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,245,999 - 28,246,086UniSTS
GeneMap99-GB4 RH Map14108.58UniSTS
NCBI RH Map14475.6UniSTS
WI-21509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371448,137,826 - 48,138,100UniSTSGRCh37
Build 361447,207,576 - 47,207,850RGDNCBI36
Celera1427,998,388 - 27,998,662RGD
Cytogenetic Map14q21.3UniSTS
HuRef1428,255,558 - 28,255,832UniSTS
GeneMap99-GB4 RH Map14107.9UniSTS
Whitehead-RH Map14154.6UniSTS
NCBI RH Map14475.6UniSTS
G35646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,429,540 - 47,429,669UniSTSGRCh37
Build 361446,499,290 - 46,499,419RGDNCBI36
Celera1427,290,082 - 27,290,211RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,547,480 - 27,547,609UniSTS
G36066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371447,626,863 - 47,626,968UniSTSGRCh37
Build 361446,696,613 - 46,696,718RGDNCBI36
Celera1427,487,391 - 27,487,496RGD
Cytogenetic Map14q21.3UniSTS
HuRef1427,744,576 - 27,744,681UniSTS
D14S88E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21.3UniSTS
TNG Radiation Hybrid Map1412534.0UniSTS
GeneMap99-G3 RH Map141445.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 3 1 3 1 3 11 3 1
Low 15 6 47 28 28 24 158 11 1779 34 420 71 4 1
Below cutoff 1630 1299 926 296 438 159 2765 965 1575 150 471 761 141 827 1594 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001113498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK123307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY328482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY369208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB041561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB095976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000357362   ⟹   ENSP00000349925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1446,841,785 - 47,343,118 (-)Ensembl
RefSeq Acc Id: ENST00000399232   ⟹   ENSP00000382178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1446,840,092 - 47,675,605 (-)Ensembl
RefSeq Acc Id: ENST00000426342   ⟹   ENSP00000405456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1446,839,629 - 47,301,560 (-)Ensembl
RefSeq Acc Id: ENST00000472499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1447,299,347 - 47,343,116 (-)Ensembl
RefSeq Acc Id: ENST00000482848   ⟹   ENSP00000434991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1447,058,600 - 47,343,192 (-)Ensembl
RefSeq Acc Id: ENST00000486952   ⟹   ENSP00000452515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1447,218,055 - 47,343,234 (-)Ensembl
RefSeq Acc Id: ENST00000554762   ⟹   ENSP00000450827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1447,035,189 - 47,131,838 (-)Ensembl
RefSeq Acc Id: ENST00000555521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1446,873,919 - 46,920,174 (-)Ensembl
RefSeq Acc Id: ENST00000557238   ⟹   ENSP00000452593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1446,870,938 - 47,626,525 (-)Ensembl
RefSeq Acc Id: ENST00000557516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1446,873,334 - 46,882,222 (-)Ensembl
RefSeq Acc Id: NM_001113498   ⟹   NP_001106970
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,840,092 - 47,675,605 (-)NCBI
GRCh371447,308,826 - 48,144,157 (-)RGD
Celera1427,169,381 - 28,004,719 (-)RGD
HuRef1427,426,615 - 28,261,881 (-)RGD
CHM1_11447,247,613 - 48,082,719 (-)NCBI
T2T-CHM13v2.01441,038,983 - 41,874,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182830   ⟹   NP_878250
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,343,246 (-)NCBI
GRCh371447,308,826 - 48,144,157 (-)RGD
Build 361446,379,045 - 46,882,145 (-)NCBI Archive
Celera1427,169,381 - 28,004,719 (-)RGD
HuRef1427,426,615 - 28,261,881 (-)RGD
CHM1_11447,247,613 - 47,751,059 (-)NCBI
T2T-CHM13v2.01441,038,514 - 41,542,045 (-)NCBI
Sequence:
RefSeq Acc Id: NR_103766
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381447,058,617 - 47,343,246 (-)NCBI
GRCh371447,308,826 - 48,144,157 (-)NCBI
HuRef1427,426,615 - 28,261,881 (-)NCBI
CHM1_11447,466,477 - 47,751,059 (-)NCBI
T2T-CHM13v2.01441,257,413 - 41,542,045 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536519   ⟹   XP_011534821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,348,145 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536522   ⟹   XP_011534824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,957,570 - 47,675,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536525   ⟹   XP_011534827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,061,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021060   ⟹   XP_016876549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,127,627 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021061   ⟹   XP_016876550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381447,051,527 - 47,675,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431048   ⟹   XP_047287004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,343,246 (-)NCBI
RefSeq Acc Id: XM_047431049   ⟹   XP_047287005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,343,246 (-)NCBI
RefSeq Acc Id: XM_047431050   ⟹   XP_047287006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381446,839,623 - 47,237,572 (-)NCBI
RefSeq Acc Id: XM_047431051   ⟹   XP_047287007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381447,035,112 - 47,675,605 (-)NCBI
RefSeq Acc Id: XM_054375504   ⟹   XP_054231479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,038,514 - 41,546,943 (-)NCBI
RefSeq Acc Id: XM_054375505   ⟹   XP_054231480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,038,514 - 41,542,045 (-)NCBI
RefSeq Acc Id: XM_054375506   ⟹   XP_054231481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,038,514 - 41,542,045 (-)NCBI
RefSeq Acc Id: XM_054375507   ⟹   XP_054231482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,038,514 - 41,436,301 (-)NCBI
RefSeq Acc Id: XM_054375508   ⟹   XP_054231483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,156,476 - 41,874,449 (-)NCBI
RefSeq Acc Id: XM_054375509   ⟹   XP_054231484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,038,514 - 41,326,397 (-)NCBI
RefSeq Acc Id: XM_054375510   ⟹   XP_054231485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,233,947 - 41,874,449 (-)NCBI
RefSeq Acc Id: XM_054375511   ⟹   XP_054231486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,245,479 - 41,874,449 (-)NCBI
RefSeq Acc Id: XM_054375512   ⟹   XP_054231487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01441,038,514 - 41,260,164 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001106970 (Get FASTA)   NCBI Sequence Viewer  
  NP_878250 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534821 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534824 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534827 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876549 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287004 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287005 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287006 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287007 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231479 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231480 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231481 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231482 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231483 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231484 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231485 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231486 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231487 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAP97010 (Get FASTA)   NCBI Sequence Viewer  
  AAQ73312 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88492 (Get FASTA)   NCBI Sequence Viewer  
  BAG53887 (Get FASTA)   NCBI Sequence Viewer  
  EAW65772 (Get FASTA)   NCBI Sequence Viewer  
  EAW65773 (Get FASTA)   NCBI Sequence Viewer  
  EAW65774 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000349925
  ENSP00000349925.3
  ENSP00000382178
  ENSP00000382178.4
  ENSP00000434991.2
  ENSP00000450827.1
  ENSP00000452515.1
  ENSP00000452593.1
GenBank Protein Q7Z553 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001106970   ⟸   NM_001113498
- Peptide Label: isoform 1
- UniProtKB: Q7Z553 (UniProtKB/Swiss-Prot),   J3KPX6 (UniProtKB/Swiss-Prot),   F6W3S7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_878250   ⟸   NM_182830
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_011534821   ⟸   XM_011536519
- Peptide Label: isoform X1
- UniProtKB: Q7Z553 (UniProtKB/Swiss-Prot),   J3KPX6 (UniProtKB/Swiss-Prot),   F6W3S7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534827   ⟸   XM_011536525
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011534824   ⟸   XM_011536522
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016876549   ⟸   XM_017021060
- Peptide Label: isoform X4
- UniProtKB: Q7Z553 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016876550   ⟸   XM_017021061
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000382178   ⟸   ENST00000399232
RefSeq Acc Id: ENSP00000452593   ⟸   ENST00000557238
RefSeq Acc Id: ENSP00000405456   ⟸   ENST00000426342
RefSeq Acc Id: ENSP00000434991   ⟸   ENST00000482848
RefSeq Acc Id: ENSP00000452515   ⟸   ENST00000486952
RefSeq Acc Id: ENSP00000349925   ⟸   ENST00000357362
RefSeq Acc Id: ENSP00000450827   ⟸   ENST00000554762
RefSeq Acc Id: XP_047287004   ⟸   XM_047431048
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047287005   ⟸   XM_047431049
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047287006   ⟸   XM_047431050
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047287007   ⟸   XM_047431051
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054231479   ⟸   XM_054375504
- Peptide Label: isoform X1
- UniProtKB: Q7Z553 (UniProtKB/Swiss-Prot),   J3KPX6 (UniProtKB/Swiss-Prot),   F6W3S7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054231480   ⟸   XM_054375505
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231481   ⟸   XM_054375506
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231482   ⟸   XM_054375507
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231484   ⟸   XM_054375509
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054231487   ⟸   XM_054375512
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054231483   ⟸   XM_054375508
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054231485   ⟸   XM_054375510
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054231486   ⟸   XM_054375511
- Peptide Label: isoform X6
Protein Domains
Fibronectin type-III   Ig-like   MAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z553-F1-model_v2 AlphaFold Q7Z553 1-956 view protein structure

Promoters
RGD ID:7227511
Promoter ID:EPDNEW_H19500
Type:initiation region
Name:MDGA2_1
Description:MAM domain containing glycosylphosphatidylinositol anchor 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
GRCh381447,675,011 - 47,675,071EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19835 AgrOrtholog
COSMIC MDGA2 COSMIC
Ensembl Genes ENSG00000139915 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357362 ENTREZGENE
  ENST00000357362.7 UniProtKB/Swiss-Prot
  ENST00000399232 ENTREZGENE
  ENST00000399232.8 UniProtKB/Swiss-Prot
  ENST00000482848 ENTREZGENE
  ENST00000482848.7 UniProtKB/TrEMBL
  ENST00000486952.2 UniProtKB/TrEMBL
  ENST00000554762.5 UniProtKB/TrEMBL
  ENST00000557238.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139915 GTEx
HGNC ID HGNC:19835 ENTREZGENE
Human Proteome Map MDGA2 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAM_dom UniProtKB/Swiss-Prot
KEGG Report hsa:161357 UniProtKB/Swiss-Prot
NCBI Gene 161357 ENTREZGENE
OMIM 611128 OMIM
PANTHER CONTACTIN 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMMUNOGLOBULIN-LIKE CELL ADHESION MOLECULE FAMILY UniProtKB/TrEMBL
  MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR PROTEIN 1 UniProtKB/TrEMBL
  NEPHRIN UniProtKB/TrEMBL
  ROUNDABOUT HOMOLOG 1 UniProtKB/Swiss-Prot
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAM UniProtKB/Swiss-Prot
PharmGKB PA162395090 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAM_2 UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAM UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot
  SSF49899 UniProtKB/Swiss-Prot
UniProt E9PMG9_HUMAN UniProtKB/TrEMBL
  F6W3S7 ENTREZGENE
  G3V5U0_HUMAN UniProtKB/TrEMBL
  G3V5Z1_HUMAN UniProtKB/TrEMBL
  H0YJ52_HUMAN UniProtKB/TrEMBL
  J3KPX6 ENTREZGENE
  MDGA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary F6W3S7 UniProtKB/Swiss-Prot
  J3KPX6 UniProtKB/Swiss-Prot