MTPN (myotrophin) - Rat Genome Database

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Gene: MTPN (myotrophin) Homo sapiens
Analyze
Symbol: MTPN
Name: myotrophin
RGD ID: 1603905
HGNC Page HGNC:15667
Description: Predicted to enable sequence-specific DNA binding activity and ubiquitin-protein transferase activity. Involved in positive regulation of cardiac muscle hypertrophy; regulation of barbed-end actin filament capping; and regulation of cell size. Part of F-actin capping protein complex. Biomarker of dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ31098; FLJ99857; GCDP; granule cell differentiation protein; V-1
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
GRCh387135,926,760 - 135,977,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7135,926,760 - 135,977,359 (-)EnsemblGRCh38hg38GRCh38
GRCh377135,611,508 - 135,662,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367135,262,049 - 135,312,604 (-)NCBINCBI36Build 36hg18NCBI36
Celera7130,348,855 - 130,399,560 (-)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7129,914,553 - 129,965,190 (-)NCBIHuRef
CHM1_17135,545,252 - 135,596,008 (-)NCBICHM1_1
T2T-CHM13v2.07137,233,963 - 137,284,569 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27134,955,940 - 135,006,645 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction 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. cDNA sequence and characterization of the gene that encodes human myotrophin/V-1 protein, a mediator of cardiac hypertrophy. Anderson KM, etal., J Mol Cell Cardiol. 1999 Apr;31(4):705-19.
2. Myotrophin-kappaB DNA interaction in the initiation process of cardiac hypertrophy. Gupta S and Sen S, Biochim Biophys Acta. 2002 May 8;1589(3):247-60.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Myotrophin in human cardiomyopathic heart. Sil P, etal., Circ Res. 1993 Jul;73(1):98-108.
5. Expression of V-1, a novel catecholamine biosynthesis regulatory protein, is enhanced by hypertension in atrial myocytes of Dahl salt-sensitive rats. Yamakuni T, etal., Biochem Biophys Res Commun 2002 Nov 15;298(5):793-7.
Additional References at PubMed
PMID:1633812   PMID:8428777   PMID:8576259   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11474205   PMID:11971907   PMID:12477932   PMID:12488317   PMID:12690205   PMID:12853948  
PMID:14702039   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:16895918   PMID:16982933   PMID:17353931   PMID:19322201   PMID:20936779   PMID:21873635   PMID:22863883  
PMID:22939629   PMID:23376485   PMID:24981860   PMID:25544563   PMID:25963833   PMID:26274321   PMID:26344197   PMID:26638075   PMID:26752685   PMID:26760575   PMID:26841866   PMID:28300567  
PMID:28515276   PMID:29053956   PMID:29128334   PMID:29847807   PMID:30575818   PMID:31470122   PMID:31536960   PMID:31586073   PMID:32203420   PMID:32344865   PMID:32483895   PMID:32513696  
PMID:32707033   PMID:32913203   PMID:33439151   PMID:33845483   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34170484   PMID:35012549   PMID:35271311   PMID:35356984   PMID:35696571  
PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:36517590   PMID:36736316   PMID:38113892  


Genomics

Comparative Map Data
MTPN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387135,926,760 - 135,977,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7135,926,760 - 135,977,359 (-)EnsemblGRCh38hg38GRCh38
GRCh377135,611,508 - 135,662,107 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367135,262,049 - 135,312,604 (-)NCBINCBI36Build 36hg18NCBI36
Celera7130,348,855 - 130,399,560 (-)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7129,914,553 - 129,965,190 (-)NCBIHuRef
CHM1_17135,545,252 - 135,596,008 (-)NCBICHM1_1
T2T-CHM13v2.07137,233,963 - 137,284,569 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27134,955,940 - 135,006,645 (-)NCBI
Mtpn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39635,485,759 - 35,516,823 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl635,485,841 - 35,516,823 (-)EnsemblGRCm39 Ensembl
GRCm38635,508,824 - 35,539,888 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl635,508,906 - 35,539,888 (-)EnsemblGRCm38mm10GRCm38
MGSCv37635,458,824 - 35,489,888 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36635,439,058 - 35,469,939 (-)NCBIMGSCv36mm8
Celera635,501,209 - 35,532,303 (-)NCBICelera
Cytogenetic Map6B1NCBI
cM Map615.27NCBI
Mtpn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8465,126,390 - 65,153,803 (-)NCBIGRCr8
mRatBN7.2464,159,273 - 64,186,686 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl464,157,641 - 64,186,724 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx469,116,325 - 69,143,737 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0465,026,060 - 65,053,436 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0463,434,435 - 63,461,845 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0463,012,009 - 63,039,422 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl463,012,011 - 63,039,422 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0462,732,736 - 62,760,149 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4462,896,762 - 62,924,175 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1463,171,383 - 63,200,312 (-)NCBI
Celera459,206,334 - 59,233,762 (-)NCBICelera
Cytogenetic Map4q22NCBI
Mtpn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554946,805,262 - 6,845,394 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554946,805,518 - 6,844,454 (+)NCBIChiLan1.0ChiLan1.0
MTPN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26172,750,521 - 172,801,562 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1724,760,776 - 24,811,817 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07127,896,148 - 127,947,122 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17140,392,620 - 140,443,591 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7140,392,620 - 140,443,591 (-)Ensemblpanpan1.1panPan2
MTPN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11612,316,487 - 12,369,148 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1612,316,336 - 12,369,387 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1613,329,142 - 13,381,817 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01612,291,590 - 12,344,263 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1612,291,377 - 12,347,409 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11612,738,681 - 12,791,312 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01611,837,732 - 11,890,481 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01611,977,207 - 12,029,889 (+)NCBIUU_Cfam_GSD_1.0
Mtpn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511818,540,208 - 18,575,185 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936592644,430 - 679,800 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936592644,618 - 679,615 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTPN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1813,330,029 - 13,395,460 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11813,330,049 - 13,395,297 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21814,099,754 - 14,137,565 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTPN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121104,605,924 - 104,657,664 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21104,605,592 - 104,657,866 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660721,494,997 - 1,544,426 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtpn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476516,181,809 - 16,218,720 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476516,182,691 - 16,218,634 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTPN
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33(chr7:134379624-135927947)x3 copy number gain See cases [RCV000511199] Chr7:134379624..135927947 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q33(chr7:133230189-137972605)x1 copy number loss not provided [RCV000682906] Chr7:133230189..137972605 [GRCh37]
Chr7:7q33		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33(chr7:134648448-137942208)x1 copy number loss not provided [RCV000849809] Chr7:134648448..137942208 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q33(chr7:135440677-135804831)x3 copy number gain not provided [RCV001258973] Chr7:135440677..135804831 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_145808.4(MTPN):c.*2593G>A single nucleotide variant Inborn genetic diseases [RCV002684079] Chr7:135927333 [GRCh38]
Chr7:135612081 [GRCh37]
Chr7:7q33		 uncertain significance
NM_145808.4(MTPN):c.*2633C>T single nucleotide variant Inborn genetic diseases [RCV002879137] Chr7:135927293 [GRCh38]
Chr7:135612041 [GRCh37]
Chr7:7q33		 likely benign
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Bhsa-let-7b-5pMirtarbaseexternal_infoReporter assayFunctional MTI15806104
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoReporter assayFunctional MTI15806104
MIR375hsa-miR-375Mirtarbaseexternal_infoReporter assay;OtherFunctional MTI15538371

Predicted Target Of
Summary Value
Count of predictions:1931
Count of miRNA genes:715
Interacting mature miRNAs:820
Transcripts:ENST00000393085, ENST00000435723
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.


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 1 1 4 1
Medium 2437 2882 1645 547 1937 388 4349 2100 3718 398 1447 1607 175 1 1204 2784 6 2
Low 1 109 81 77 13 77 4 97 16 20 12 6 4
Below cutoff 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000393085   ⟹   ENSP00000376800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7135,926,760 - 135,977,359 (-)Ensembl
RefSeq Acc Id: ENST00000435723   ⟹   ENSP00000388321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7135,929,459 - 135,977,353 (-)Ensembl
RefSeq Acc Id: NM_145808   ⟹   NP_665807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387135,926,760 - 135,977,359 (-)NCBI
GRCh377135,611,503 - 135,662,204 (-)ENTREZGENE
Build 367135,262,049 - 135,312,604 (-)NCBI Archive
HuRef7129,914,553 - 129,965,190 (-)ENTREZGENE
CHM1_17135,545,252 - 135,596,008 (-)NCBI
T2T-CHM13v2.07137,233,963 - 137,284,569 (-)NCBI
CRA_TCAGchr7v27134,955,940 - 135,006,645 (-)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_665807   ⟸   NM_145808
- UniProtKB: P58546 (UniProtKB/Swiss-Prot),   Q69YG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000376800   ⟸   ENST00000393085
RefSeq Acc Id: ENSP00000388321   ⟸   ENST00000435723

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58546-F1-model_v2 AlphaFold P58546 1-118 view protein structure

Promoters
RGD ID:6805914
Promoter ID:HG_KWN:59841
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356707,   NM_001128619,   UC010LMV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367135,312,461 - 135,312,961 (-)MPROMDB
RGD ID:7212003
Promoter ID:EPDNEW_H11747
Type:initiation region
Name:MTPN_2
Description:myotrophin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11748  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387135,927,238 - 135,927,298EPDNEW
RGD ID:7212005
Promoter ID:EPDNEW_H11748
Type:initiation region
Name:MTPN_1
Description:myotrophin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11747  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387135,977,353 - 135,977,413EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15667 AgrOrtholog
COSMIC MTPN COSMIC
Ensembl Genes ENSG00000105887 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000393085 ENTREZGENE
  ENST00000393085.4 UniProtKB/Swiss-Prot
  ENST00000435723.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105887 GTEx
HGNC ID HGNC:15667 ENTREZGENE
Human Proteome Map MTPN Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:136319 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 136319 ENTREZGENE
OMIM 606484 OMIM
PANTHER ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 39-RELATED UniProtKB/Swiss-Prot
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 39-RELATED UniProtKB/Swiss-Prot
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 39-RELATED UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 39-RELATED UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31271 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JL85_HUMAN UniProtKB/TrEMBL
  MTPN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q69YG1 ENTREZGENE, UniProtKB/TrEMBL