MTDH (metadherin) - Rat Genome Database

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Gene: MTDH (metadherin) Homo sapiens
Analyze
Symbol: MTDH
Name: metadherin
RGD ID: 735692
HGNC Page HGNC
Description: Exhibits DNA-binding transcription factor binding activity; double-stranded RNA binding activity; and transcription coactivator activity. Involved in several processes, including lipopolysaccharide-mediated signaling pathway; positive regulation of intracellular signal transduction; and regulation of transcription, DNA-templated. Localizes to endoplasmic reticulum; nuclear lumen; and perinuclear region of cytoplasm; INTERACTS WITH 2-methylcholine; aflatoxin B1; benzo[a]pyrene diol epoxide I.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 3D3; 3D3/LYRIC; AEG-1; AEG1; astrocyte elevated gene 1; astrocyte elevated gene-1 protein; LYRIC; LYRIC/3D3; lysine-rich CEACAM1 co-isolated protein; metastasis adhesion protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MTDHP1   MTDHP2   MTDHP3   MTDHP4   MTDHP5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl897,644,184 - 97,730,260 (+)EnsemblGRCh38hg38GRCh38
GRCh38897,643,972 - 97,730,260 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37898,656,412 - 98,742,488 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36898,725,583 - 98,807,714 (+)NCBINCBI36hg18NCBI36
Build 34898,725,582 - 98,807,711NCBI
Celera894,842,407 - 94,928,366 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef893,862,743 - 93,949,052 (+)NCBIHuRef
CHM1_1898,696,633 - 98,783,342 (+)NCBICHM1_1
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

References

Additional References at PubMed
PMID:11823860   PMID:12477932   PMID:14702039   PMID:14980505   PMID:15093543   PMID:15383321   PMID:15489334   PMID:15927426   PMID:16344560   PMID:16452207   PMID:17081983   PMID:17088530  
PMID:17342744   PMID:17397930   PMID:17563745   PMID:17704808   PMID:18029348   PMID:18316612   PMID:18440304   PMID:18519759   PMID:19111877   PMID:19221438   PMID:19304953   PMID:19383828  
PMID:19433866   PMID:19448665   PMID:19615732   PMID:19633686   PMID:19648967   PMID:19740331   PMID:19805454   PMID:19940250   PMID:20020773   PMID:20053777   PMID:20236756   PMID:20300973  
PMID:20388776   PMID:20388796   PMID:20565850   PMID:20625905   PMID:20802479   PMID:20845990   PMID:20952513   PMID:21084864   PMID:21127263   PMID:21145461   PMID:21150314   PMID:21182205  
PMID:21256156   PMID:21259255   PMID:21266579   PMID:21293286   PMID:21371176   PMID:21408129   PMID:21412050   PMID:21448238   PMID:21478147   PMID:21495225   PMID:21543927   PMID:21609571  
PMID:21750404   PMID:21750868   PMID:21753766   PMID:21852380   PMID:21873635   PMID:21957284   PMID:21964981   PMID:21976539   PMID:22031094   PMID:22056881   PMID:22113938   PMID:22133054  
PMID:22195048   PMID:22199357   PMID:22204714   PMID:22246354   PMID:22340175   PMID:22351252   PMID:22363329   PMID:22367022   PMID:22372608   PMID:22412018   PMID:22431469   PMID:22470125  
PMID:22643064   PMID:22658674   PMID:22681889   PMID:22684557   PMID:22689379   PMID:22768080   PMID:22898150   PMID:22903204   PMID:22938468   PMID:22939629   PMID:22967897   PMID:23011158  
PMID:23023948   PMID:23065261   PMID:23142337   PMID:23240043   PMID:23307243   PMID:23364922   PMID:23408429   PMID:23499911   PMID:23595222   PMID:23640911   PMID:23710918   PMID:23835593  
PMID:23851509   PMID:23874603   PMID:23889986   PMID:23889987   PMID:23889988   PMID:23889989   PMID:23889990   PMID:23889991   PMID:23889992   PMID:23910058   PMID:24063540   PMID:24119914  
PMID:24136747   PMID:24256614   PMID:24457600   PMID:24462870   PMID:24495449   PMID:24529480   PMID:24656097   PMID:24659263   PMID:24674449   PMID:24675891   PMID:24705862   PMID:24711643  
PMID:24817955   PMID:24829140   PMID:24829520   PMID:24855648   PMID:24941119   PMID:24946951   PMID:24963474   PMID:24981741   PMID:24989027   PMID:25010285   PMID:25050974   PMID:25074613  
PMID:25092897   PMID:25125681   PMID:25174891   PMID:25182604   PMID:25193383   PMID:25197376   PMID:25204501   PMID:25266957   PMID:25304263   PMID:25323629   PMID:25333261   PMID:25346496  
PMID:25407490   PMID:25417825   PMID:25428378   PMID:25431427   PMID:25432696   PMID:25437307   PMID:25483832   PMID:25484183   PMID:25575438   PMID:25631074   PMID:25652471   PMID:25684730  
PMID:25695541   PMID:25787750   PMID:25794773   PMID:25824750   PMID:25880337   PMID:25902416   PMID:25913216   PMID:25921289   PMID:25944909   PMID:25987128   PMID:26016795   PMID:26035424  
PMID:26051629   PMID:26096243   PMID:26122237   PMID:26134542   PMID:26141861   PMID:26156805   PMID:26176806   PMID:26186194   PMID:26236947   PMID:26287185   PMID:26318406   PMID:26336827  
PMID:26351209   PMID:26362536   PMID:26418251   PMID:26496610   PMID:26549023   PMID:26589417   PMID:26595523   PMID:26638075   PMID:26683226   PMID:26689985   PMID:26710214   PMID:26823698  
PMID:26884832   PMID:26885983   PMID:27025967   PMID:27059438   PMID:27090750   PMID:27229534   PMID:27339400   PMID:27342126   PMID:27434586   PMID:27565732   PMID:27571703   PMID:27667169  
PMID:27746178   PMID:27765924   PMID:27793010   PMID:27835571   PMID:27903708   PMID:27917902   PMID:27923917   PMID:27956703   PMID:28049764   PMID:28107197   PMID:28112756   PMID:28174206  
PMID:28184926   PMID:28225217   PMID:28276315   PMID:28323000   PMID:28401704   PMID:28429540   PMID:28514442   PMID:28515276   PMID:28534938   PMID:28627585   PMID:28661037   PMID:28675297  
PMID:28685276   PMID:28714009   PMID:28731152   PMID:28849015   PMID:28877780   PMID:28901527   PMID:28923415   PMID:28927747   PMID:28938524   PMID:28941723   PMID:28952213   PMID:28977666  
PMID:29048632   PMID:29089083   PMID:29115517   PMID:29117631   PMID:29133850   PMID:29152659   PMID:29180619   PMID:29203614   PMID:29207012   PMID:29229926   PMID:29257267   PMID:29257296  
PMID:29286115   PMID:29286223   PMID:29298432   PMID:29315995   PMID:29395067   PMID:29438049   PMID:29478367   PMID:29505090   PMID:29507755   PMID:29543785   PMID:29558717   PMID:29562498  
PMID:29568061   PMID:29770329   PMID:29787989   PMID:29802200   PMID:29908229   PMID:29961565   PMID:29991511   PMID:30002443   PMID:30015840   PMID:30015932   PMID:30015962   PMID:30021884  
PMID:30132507   PMID:30134829   PMID:30209976   PMID:30227879   PMID:30277474   PMID:30359541   PMID:30382894   PMID:30425250   PMID:30431025   PMID:30463901   PMID:30489008   PMID:30535507  
PMID:30542714   PMID:30560724   PMID:30581152   PMID:30585729   PMID:30614349   PMID:30628643   PMID:30628702   PMID:30694025   PMID:30720088   PMID:30768878   PMID:30804502   PMID:30825051  
PMID:30833792   PMID:30878819   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31048545   PMID:31056421   PMID:31059266   PMID:31067453   PMID:31069875   PMID:31081051   PMID:31091453  
PMID:31177093   PMID:31452512   PMID:31478661   PMID:31498866   PMID:31586073   PMID:31691973   PMID:31698701   PMID:31701846   PMID:31732153   PMID:31749230   PMID:31778279   PMID:31782179  
PMID:31802830   PMID:31806873   PMID:31912882   PMID:31980649   PMID:32031319   PMID:32129710   PMID:32207338   PMID:32251289   PMID:32788342   PMID:32877691   PMID:33802672  


Genomics

Comparative Map Data
MTDH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl897,644,184 - 97,730,260 (+)EnsemblGRCh38hg38GRCh38
GRCh38897,643,972 - 97,730,260 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37898,656,412 - 98,742,488 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36898,725,583 - 98,807,714 (+)NCBINCBI36hg18NCBI36
Build 34898,725,582 - 98,807,711NCBI
Celera894,842,407 - 94,928,366 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef893,862,743 - 93,949,052 (+)NCBIHuRef
CHM1_1898,696,633 - 98,783,342 (+)NCBICHM1_1
Mtdh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391534,082,613 - 34,143,683 (+)NCBIGRCm39mm39
GRCm39 Ensembl1534,082,840 - 34,145,770 (+)Ensembl
GRCm381534,082,442 - 34,143,537 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1534,082,694 - 34,145,624 (+)EnsemblGRCm38mm10GRCm38
MGSCv371534,012,474 - 34,072,140 (+)NCBIGRCm37mm9NCBIm37
MGSCv361534,027,370 - 34,085,968 (+)NCBImm8
Celera1534,707,184 - 34,766,810 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1513.98NCBI
Mtdh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2765,306,464 - 65,365,647 (+)NCBI
Rnor_6.0 Ensembl772,772,440 - 72,827,908 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0772,771,018 - 72,830,599 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0772,938,130 - 72,997,298 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0773,209,610 - 73,233,540 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4769,527,182 - 69,583,015 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1769,547,911 - 69,603,745 (+)NCBI
Celera762,413,649 - 62,469,018 (+)NCBICelera
Cytogenetic Map7q22NCBI
Mtdh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541713,479,762 - 13,537,950 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541713,479,398 - 13,540,706 (+)NCBIChiLan1.0ChiLan1.0
MTDH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1896,472,750 - 96,552,986 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl896,473,247 - 96,551,341 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0894,282,432 - 94,368,516 (+)NCBIMhudiblu_PPA_v0panPan3
MTDH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12941,675,601 - 41,732,389 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2941,640,035 - 41,729,949 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02941,870,170 - 41,926,925 (+)NCBI
UMICH_Zoey_3.12941,908,451 - 41,965,166 (+)NCBI
UNSW_CanFamBas_1.02941,878,798 - 41,935,435 (+)NCBI
UU_Cfam_GSD_1.02942,344,127 - 42,400,842 (+)NCBI
Mtdh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530337,588,843 - 37,653,629 (-)NCBI
SpeTri2.0NW_00493647045,016,099 - 45,079,709 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTDH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl439,051,541 - 39,113,385 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1439,052,895 - 39,113,380 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2442,097,775 - 42,166,475 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTDH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1892,563,480 - 92,641,874 (+)NCBI
ChlSab1.1 Ensembl892,563,550 - 92,640,231 (+)Ensembl
Mtdh
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247634,905,261 - 4,967,014 (+)NCBI

Position Markers
RH36459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,742,266 - 98,742,488UniSTSGRCh37
Build 36898,811,442 - 98,811,664RGDNCBI36
Celera894,928,144 - 94,928,366RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,948,830 - 93,949,052UniSTS
GeneMap99-GB4 RH Map8442.04UniSTS
G60024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,738,312 - 98,738,463UniSTSGRCh37
Build 36898,807,488 - 98,807,639RGDNCBI36
Celera894,924,189 - 94,924,340RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,944,876 - 93,945,027UniSTS
TNG Radiation Hybrid Map847172.0UniSTS
D8S1375E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,739,963 - 98,740,042UniSTSGRCh37
Build 36898,809,139 - 98,809,218RGDNCBI36
Celera894,925,840 - 94,925,919RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,946,527 - 93,946,606UniSTS
D8S1439E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,741,651 - 98,741,788UniSTSGRCh37
Build 36898,810,827 - 98,810,964RGDNCBI36
Celera894,927,529 - 94,927,666RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,948,215 - 93,948,352UniSTS
D8S1676E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,738,318 - 98,738,398UniSTSGRCh37
Build 36898,807,494 - 98,807,574RGDNCBI36
Celera894,924,195 - 94,924,275RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,944,882 - 93,944,962UniSTS
WIAF-2226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,738,308 - 98,738,463UniSTSGRCh37
Build 36898,807,484 - 98,807,639RGDNCBI36
Celera894,924,185 - 94,924,340RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,944,872 - 93,945,027UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
SHGC-34109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,738,394 - 98,738,543UniSTSGRCh37
Build 36898,807,570 - 98,807,719RGDNCBI36
Celera894,924,271 - 94,924,420RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,944,958 - 93,945,107UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
Whitehead-RH Map8581.1UniSTS
NCBI RH Map8994.1UniSTS
GeneMap99-G3 RH Map83768.0UniSTS
RH45730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,739,809 - 98,739,992UniSTSGRCh37
Build 36898,808,985 - 98,809,168RGDNCBI36
Celera894,925,686 - 94,925,869RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,946,373 - 93,946,556UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map81016.3UniSTS
D8S2022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,737,098 - 98,737,239UniSTSGRCh37
Build 36898,806,274 - 98,806,415RGDNCBI36
Celera894,922,975 - 94,923,116RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,943,662 - 93,943,803UniSTS
A007D43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,741,464 - 98,741,668UniSTSGRCh37
Build 36898,810,640 - 98,810,844RGDNCBI36
Celera894,927,342 - 94,927,546RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,948,028 - 93,948,232UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map81016.3UniSTS
RH17796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,738,320 - 98,738,462UniSTSGRCh37
Build 36898,807,496 - 98,807,638RGDNCBI36
Celera894,924,197 - 94,924,339RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,944,884 - 93,945,026UniSTS
GeneMap99-GB4 RH Map8443.97UniSTS
SGC44379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,736,912 - 98,737,183UniSTSGRCh37
Build 36898,806,088 - 98,806,359RGDNCBI36
Celera894,922,789 - 94,923,060RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,943,476 - 93,943,747UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
Whitehead-RH Map8580.2UniSTS
NCBI RH Map81216.5UniSTS
RH69405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37898,741,711 - 98,741,847UniSTSGRCh37
Build 36898,810,887 - 98,811,023RGDNCBI36
Celera894,927,589 - 94,927,725RGD
Cytogenetic Map8q22.1UniSTS
HuRef893,948,275 - 93,948,411UniSTS
GeneMap99-GB4 RH Map8442.44UniSTS
NCBI RH Map8997.6UniSTS
D13S1639  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q22.1UniSTS
WI-16602  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q22.1UniSTS
GeneMap99-GB4 RH Map8438.32UniSTS
Whitehead-RH Map8566.4UniSTS
NCBI RH Map81214.5UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR139hsa-miR-139-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR26A1hsa-miR-26a-5pOncomiRDBexternal_infoNANA20952513
MIR136hsa-miR-136-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22967897
MIR136hsa-miR-136-5pOncomiRDBexternal_infoNANA22967897
MIR26A2hsa-miR-26a-5pOncomiRDBexternal_infoNANA20952513
MIR375hsa-miR-375Mirtarbaseexternal_infoImmunofluorescence//Luciferase reporter assay//qRTFunctional MTI22508479
MIR375hsa-miR-375OncomiRDBexternal_infoNANA22508479
MIR375hsa-miR-375OncomiRDBexternal_infoNANA22056881
MIR375hsa-miR-375OncomiRDBexternal_infoNANA22031094
MIR375hsa-miR-375OncomiRDBexternal_infoNANA21753766

Predicted Target Of
Summary Value
Count of predictions:2282
Count of miRNA genes:961
Interacting mature miRNAs:1189
Transcripts:ENST00000336273, ENST00000519293, ENST00000519934, ENST00000521933, ENST00000522104, ENST00000522313
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.


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 2 1
Medium 2418 2261 1706 611 1479 453 4350 1986 3033 364 1444 1606 171 1203 2783 3
Low 20 728 20 13 470 12 6 210 701 55 15 7 4 1 1 5 2 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF411226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF501310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY082966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY974040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA213697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW426198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC795238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC960442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF307634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF443811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT877986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT877987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336273   ⟹   ENSP00000338235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,644,184 - 97,730,260 (+)Ensembl
RefSeq Acc Id: ENST00000519293   ⟹   ENSP00000429289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,691,019 - 97,724,652 (+)Ensembl
RefSeq Acc Id: ENST00000519934   ⟹   ENSP00000428168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,644,546 - 97,725,243 (+)Ensembl
RefSeq Acc Id: ENST00000521933   ⟹   ENSP00000429642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,691,131 - 97,724,617 (+)Ensembl
RefSeq Acc Id: ENST00000522104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,706,412 - 97,719,087 (+)Ensembl
RefSeq Acc Id: ENST00000522313   ⟹   ENSP00000428703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl897,644,793 - 97,691,164 (+)Ensembl
RefSeq Acc Id: NM_001363136   ⟹   NP_001350065
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,184 - 97,730,260 (+)NCBI
RefSeq Acc Id: NM_001363137   ⟹   NP_001350066
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,184 - 97,730,260 (+)NCBI
RefSeq Acc Id: NM_001363138   ⟹   NP_001350067
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,184 - 97,730,260 (+)NCBI
RefSeq Acc Id: NM_001363139   ⟹   NP_001350068
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,184 - 97,730,260 (+)NCBI
RefSeq Acc Id: NM_178812   ⟹   NP_848927
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,184 - 97,730,260 (+)NCBI
GRCh37898,656,375 - 98,742,488 (+)NCBI
Build 36898,725,583 - 98,807,714 (+)NCBI Archive
HuRef893,862,743 - 93,949,052 (+)ENTREZGENE
CHM1_1898,696,633 - 98,783,342 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517368   ⟹   XP_011515670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,643,972 - 97,727,886 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517369   ⟹   XP_011515671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,643,972 - 97,728,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517370   ⟹   XP_011515672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,643,972 - 97,728,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013968   ⟹   XP_016869457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,643,972 - 97,728,272 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_848927   ⟸   NM_178812
- Peptide Label: isoform 1
- UniProtKB: Q86UE4 (UniProtKB/Swiss-Prot),   A0A024R9D2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515671   ⟸   XM_011517369
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515672   ⟸   XM_011517370
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515670   ⟸   XM_011517368
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869457   ⟸   XM_017013968
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001350066   ⟸   NM_001363137
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001350067   ⟸   NM_001363138
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001350065   ⟸   NM_001363136
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001350068   ⟸   NM_001363139
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000429289   ⟸   ENST00000519293
RefSeq Acc Id: ENSP00000428168   ⟸   ENST00000519934
RefSeq Acc Id: ENSP00000338235   ⟸   ENST00000336273
RefSeq Acc Id: ENSP00000429642   ⟸   ENST00000521933
RefSeq Acc Id: ENSP00000428703   ⟸   ENST00000522313

Promoters
RGD ID:7213835
Promoter ID:EPDNEW_H12663
Type:initiation region
Name:MTDH_1
Description:metadherin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12664  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,184 - 97,644,244EPDNEW
RGD ID:7213837
Promoter ID:EPDNEW_H12664
Type:initiation region
Name:MTDH_2
Description:metadherin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12663  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38897,644,484 - 97,644,544EPDNEW
RGD ID:6806883
Promoter ID:HG_KWN:61764
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_178812
Position:
Human AssemblyChrPosition (strand)Source
Build 36898,725,116 - 98,725,732 (+)MPROMDB
RGD ID:6806870
Promoter ID:HG_KWN:61765
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010MBF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36898,772,269 - 98,772,769 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
NM_178812.3(MTDH):c.1530G>A (p.Lys510=) single nucleotide variant Malignant melanoma [RCV000068448] Chr8:97722887 [GRCh38]
Chr8:98735115 [GRCh37]
Chr8:98804291 [NCBI36]
Chr8:8q22.1
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_178812.4(MTDH):c.160G>A (p.Val54Met) single nucleotide variant not provided [RCV000950170] Chr8:97644666 [GRCh38]
Chr8:98656894 [GRCh37]
Chr8:8q22.1
benign
NM_178812.4(MTDH):c.1679-6T>C single nucleotide variant not provided [RCV000953584] Chr8:97724594 [GRCh38]
Chr8:98736822 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3 copy number gain not provided [RCV001006122] Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29608 AgrOrtholog
COSMIC MTDH COSMIC
Ensembl Genes ENSG00000147649 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338235 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428168 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428703 UniProtKB/TrEMBL
  ENSP00000429289 UniProtKB/TrEMBL
  ENSP00000429642 UniProtKB/TrEMBL
Ensembl Transcript ENST00000336273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519293 UniProtKB/TrEMBL
  ENST00000519934 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000521933 UniProtKB/TrEMBL
  ENST00000522313 UniProtKB/TrEMBL
GTEx ENSG00000147649 GTEx
HGNC ID HGNC:29608 ENTREZGENE
Human Proteome Map MTDH Human Proteome Map
InterPro LYRIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:92140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 92140 ENTREZGENE
OMIM 610323 OMIM
Pfam LYRIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671307 PharmGKB
UniProt A0A024R9D2 ENTREZGENE, UniProtKB/TrEMBL
  E5RJU9_HUMAN UniProtKB/TrEMBL
  H0YB56_HUMAN UniProtKB/TrEMBL
  H0YBE0_HUMAN UniProtKB/TrEMBL
  H0YBJ8_HUMAN UniProtKB/TrEMBL
  LYRIC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q05DH2 UniProtKB/Swiss-Prot
  Q52QU9 UniProtKB/Swiss-Prot
  Q6PK07 UniProtKB/Swiss-Prot
  Q8TCX3 UniProtKB/Swiss-Prot