MTMR4 (myotubularin related protein 4) - Rat Genome Database
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Gene: MTMR4 (myotubularin related protein 4) Homo sapiens
Analyze
Symbol: MTMR4
Name: myotubularin related protein 4
RGD ID: 1321134
HGNC Page HGNC
Description: Exhibits protein phosphatase binding activity. Involved in regulation of phosphatidylinositol dephosphorylation. Localizes to endosome; INTERACTS WITH 8-Br-cAMP; acrolein; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FYVE domain-containing dual specificity protein phosphatase 2; FYVE-DSP2; KIAA0647; myotubularin-related protein 4; ZFYVE11; zinc finger FYVE domain-containing protein 11; zinc finger, FYVE domain containing 11
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
GRCh38.p13 Ensembl1758,489,529 - 58,517,905 (-)EnsemblGRCh38hg38GRCh38
GRCh381758,489,537 - 58,518,109 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371756,566,893 - 56,595,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361753,921,897 - 53,950,211 (-)NCBINCBI36hg18NCBI36
Build 341753,921,896 - 53,950,211NCBI
Celera1753,028,691 - 53,057,049 (-)NCBI
Cytogenetic Map17q22NCBI
HuRef1751,927,353 - 51,955,501 (-)NCBIHuRef
CHM1_11756,632,457 - 56,660,825 (-)NCBICHM1_1
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
References

Additional References at PubMed
PMID:9734811   PMID:9736772   PMID:10888877   PMID:11302699   PMID:12477932   PMID:15231748   PMID:16787938   PMID:19322201   PMID:19329342   PMID:20061380   PMID:20736309   PMID:21873635  
PMID:21940522   PMID:22664934   PMID:23150675   PMID:25195910   PMID:25208829   PMID:25659891   PMID:26186194   PMID:26787466   PMID:27432908   PMID:27625994   PMID:27880917   PMID:27976729  
PMID:28514442   PMID:28675297   PMID:29117863   PMID:29507755   PMID:31586073   PMID:31723608  


Genomics

Comparative Map Data
MTMR4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1758,489,529 - 58,517,905 (-)EnsemblGRCh38hg38GRCh38
GRCh381758,489,537 - 58,518,109 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371756,566,893 - 56,595,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361753,921,897 - 53,950,211 (-)NCBINCBI36hg18NCBI36
Build 341753,921,896 - 53,950,211NCBI
Celera1753,028,691 - 53,057,049 (-)NCBI
Cytogenetic Map17q22NCBI
HuRef1751,927,353 - 51,955,501 (-)NCBIHuRef
CHM1_11756,632,457 - 56,660,825 (-)NCBICHM1_1
Mtmr4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391187,482,780 - 87,507,128 (+)NCBIGRCm39mm39
GRCm381187,591,954 - 87,616,302 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1187,592,162 - 87,616,302 (+)EnsemblGRCm38mm10GRCm38
MGSCv371187,405,719 - 87,429,798 (+)NCBIGRCm37mm9NCBIm37
MGSCv361187,408,412 - 87,432,491 (+)NCBImm8
Celera1197,187,562 - 97,211,641 (+)NCBICelera
Cytogenetic Map11CNCBI
Mtmr4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01074,886,600 - 74,909,532 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1074,886,985 - 74,909,533 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01075,192,507 - 75,215,438 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41075,883,526 - 75,906,440 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11075,896,715 - 75,918,774 (+)NCBI
Celera1071,307,233 - 71,330,165 (+)NCBICelera
Cytogenetic Map10q26NCBI
Mtmr4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554514,532,295 - 4,558,225 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554514,531,966 - 4,557,528 (+)NCBIChiLan1.0ChiLan1.0
MTMR4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11757,418,229 - 57,446,539 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1757,418,229 - 57,446,545 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01752,564,455 - 52,592,899 (-)NCBIMhudiblu_PPA_v0panPan3
MTMR4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl933,112,143 - 33,136,684 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1933,110,983 - 33,136,843 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mtmr4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364904,611,350 - 4,638,181 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTMR4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1234,745,236 - 34,771,233 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11234,745,232 - 34,771,315 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21236,044,693 - 36,069,940 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTMR4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11634,889,637 - 34,918,101 (+)NCBI
ChlSab1.1 Ensembl1634,890,764 - 34,918,263 (+)Ensembl
Mtmr4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624871302,589 - 328,773 (-)NCBI

Position Markers
G42216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,593,545 - 56,593,708UniSTSGRCh37
Build 361753,948,544 - 53,948,707RGDNCBI36
Celera1753,055,343 - 53,055,506RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1751,953,795 - 51,953,958UniSTS
SHGC-78927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,594,388 - 56,594,659UniSTSGRCh37
Build 361753,949,387 - 53,949,658RGDNCBI36
Celera1753,056,186 - 53,056,457RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1751,954,638 - 51,954,909UniSTS
TNG Radiation Hybrid Map1725604.0UniSTS
AA596759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,566,983 - 56,567,071UniSTSGRCh37
Build 361753,921,982 - 53,922,070RGDNCBI36
Celera1753,028,781 - 53,028,869RGD
HuRef1751,927,443 - 51,927,531UniSTS
D17S1780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,566,998 - 56,567,099UniSTSGRCh37
Build 361753,921,997 - 53,922,098RGDNCBI36
Celera1753,028,796 - 53,028,897RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q22-q23UniSTS
HuRef1751,927,458 - 51,927,559UniSTS
A002V09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,568,771 - 56,568,919UniSTSGRCh37
Build 361753,923,770 - 53,923,918RGDNCBI36
Celera1753,030,569 - 53,030,717RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1751,929,231 - 51,929,379UniSTS
GeneMap99-GB4 RH Map17375.3UniSTS
MTMR4_8899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,566,831 - 56,567,610UniSTSGRCh37
Build 361753,921,830 - 53,922,609RGDNCBI36
Celera1753,028,629 - 53,029,408RGD
HuRef1751,927,291 - 51,928,070UniSTS
D17S1363E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,567,042 - 56,567,140UniSTSGRCh37
Build 361753,922,041 - 53,922,139RGDNCBI36
Celera1753,028,840 - 53,028,938RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q22-q23UniSTS
HuRef1751,927,502 - 51,927,600UniSTS
GeneMap99-GB4 RH Map17372.86UniSTS
D17S2030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,570,036 - 56,570,314UniSTSGRCh37
Build 361753,925,035 - 53,925,313RGDNCBI36
Celera1753,031,836 - 53,032,114RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1751,930,498 - 51,930,776UniSTS
Whitehead-YAC Contig Map17 UniSTS
WI-12688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,596,193 - 56,596,342UniSTSGRCh37
Build 361753,951,192 - 53,951,341RGDNCBI36
Celera1753,057,991 - 53,058,140RGD
Cytogenetic Map17q22-q23UniSTS
HuRef1751,956,443 - 51,956,592UniSTS
GeneMap99-GB4 RH Map17374.14UniSTS
Whitehead-RH Map17432.0UniSTS
STS-H68355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,567,011 - 56,567,144UniSTSGRCh37
Build 361753,922,010 - 53,922,143RGDNCBI36
Celera1753,028,809 - 53,028,942RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q22-q23UniSTS
HuRef1751,927,471 - 51,927,604UniSTS
GeneMap99-GB4 RH Map17372.71UniSTS
G06215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371756,566,929 - 56,567,754UniSTSGRCh37
Celera1753,028,727 - 53,029,552UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q22-q23UniSTS
HuRef1751,927,389 - 51,928,214UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4553
Count of miRNA genes:1171
Interacting mature miRNAs:1481
Transcripts:ENST00000323456, ENST00000578259, ENST00000579921, ENST00000579925, ENST00000580983, ENST00000582390, ENST00000582663, ENST00000583243, ENST00000583656, ENST00000583966
Prediction methods:Microtar, Miranda, Pita, 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
Medium 2170 1775 1613 564 1540 414 3528 923 2957 275 1411 1517 162 1020 1999 5 1
Low 269 1215 113 60 411 51 829 1273 777 144 49 96 13 1 184 789 1 1
Below cutoff 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000323456   ⟹   ENSP00000325285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,489,537 - 58,517,905 (-)Ensembl
RefSeq Acc Id: ENST00000578259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,491,481 - 58,492,738 (-)Ensembl
RefSeq Acc Id: ENST00000579921   ⟹   ENSP00000463259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,511,448 - 58,517,839 (-)Ensembl
RefSeq Acc Id: ENST00000579925   ⟹   ENSP00000464067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,489,529 - 58,517,851 (-)Ensembl
RefSeq Acc Id: ENST00000580983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,507,985 - 58,511,511 (-)Ensembl
RefSeq Acc Id: ENST00000582390   ⟹   ENSP00000462869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,510,597 - 58,514,624 (-)Ensembl
RefSeq Acc Id: ENST00000582663   ⟹   ENSP00000464247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,508,168 - 58,517,855 (-)Ensembl
RefSeq Acc Id: ENST00000583243   ⟹   ENSP00000464588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,511,451 - 58,514,036 (-)Ensembl
RefSeq Acc Id: ENST00000583656   ⟹   ENSP00000463479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,508,468 - 58,514,624 (-)Ensembl
RefSeq Acc Id: ENST00000583966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1758,508,322 - 58,508,876 (-)Ensembl
RefSeq Acc Id: NM_001378066   ⟹   NP_001364995
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,489,537 - 58,517,880 (-)NCBI
RefSeq Acc Id: NM_001378067   ⟹   NP_001364996
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,489,537 - 58,514,638 (-)NCBI
RefSeq Acc Id: NM_004687   ⟹   NP_004678
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,489,537 - 58,517,880 (-)NCBI
GRCh371756,566,893 - 56,595,271 (-)NCBI
Build 361753,921,897 - 53,950,211 (-)NCBI Archive
Celera1753,028,691 - 53,057,049 (-)RGD
HuRef1751,927,353 - 51,955,501 (-)RGD
CHM1_11756,632,457 - 56,660,825 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257786   ⟹   XP_005257843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,489,538 - 58,517,681 (-)NCBI
GRCh371756,566,893 - 56,595,271 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722168   ⟹   XP_006722231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,489,538 - 58,518,109 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525460   ⟹   XP_011523762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,489,538 - 58,517,055 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004678   ⟸   NM_004687
- Peptide Label: isoform 1
- UniProtKB: Q9NYA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257843   ⟸   XM_005257786
- Peptide Label: isoform X3
- UniProtKB: Q9NYA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722231   ⟸   XM_006722168
- Peptide Label: isoform X3
- UniProtKB: Q9NYA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523762   ⟸   XM_011525460
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001364995   ⟸   NM_001378066
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364996   ⟸   NM_001378067
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000462869   ⟸   ENST00000582390
RefSeq Acc Id: ENSP00000464247   ⟸   ENST00000582663
RefSeq Acc Id: ENSP00000464588   ⟸   ENST00000583243
RefSeq Acc Id: ENSP00000463479   ⟸   ENST00000583656
RefSeq Acc Id: ENSP00000325285   ⟸   ENST00000323456
RefSeq Acc Id: ENSP00000464067   ⟸   ENST00000579925
RefSeq Acc Id: ENSP00000463259   ⟸   ENST00000579921
Promoters
RGD ID:6811261
Promoter ID:HG_ACW:35512
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MTMR4.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361753,924,901 - 53,925,401 (-)MPROMDB
RGD ID:6814609
Promoter ID:HG_XEF:3476
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001086804,   NM_001105827
Position:
Human AssemblyChrPosition (strand)Source
Build 361753,945,881 - 53,946,381 (-)MPROMDB
RGD ID:6794249
Promoter ID:HG_KWN:26687
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC010DCX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361753,946,651 - 53,947,151 (-)MPROMDB
RGD ID:6794352
Promoter ID:HG_KWN:26688
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:NM_004687
Position:
Human AssemblyChrPosition (strand)Source
Build 361753,950,121 - 53,951,137 (-)MPROMDB
RGD ID:7235807
Promoter ID:EPDNEW_H23649
Type:initiation region
Name:MTMR4_1
Description:myotubularin related protein 4
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
GRCh381758,517,880 - 58,517,940EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_004687.4(MTMR4):c.674G>C (p.Arg225Pro) single nucleotide variant Lung cancer [RCV000100571] Chr17:58507311 [GRCh38]
Chr17:56584672 [GRCh37]
Chr17:17q22
uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1 copy number loss See cases [RCV000140211] Chr17:57418806..59735464 [GRCh38]
Chr17:55496167..57812825 [GRCh37]
Chr17:52851166..55167607 [NCBI36]
Chr17:17q22-23.1
pathogenic
GRCh37/hg19 17q22(chr17:55916829-56770618)x1 copy number loss See cases [RCV000239996] Chr17:55916829..56770618 [GRCh37]
Chr17:17q22
likely pathogenic
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3
pathogenic
GRCh37/hg19 17q22(chr17:52189051-57477162)x3 copy number gain See cases [RCV000448801] Chr17:52189051..57477162 [GRCh37]
Chr17:17q22
pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_004687.5(MTMR4):c.3039A>T (p.Gly1013=) single nucleotide variant not provided [RCV000960296] Chr17:58495103 [GRCh38]
Chr17:56572464 [GRCh37]
Chr17:17q22
benign
NM_004687.5(MTMR4):c.648T>C (p.Ile216=) single nucleotide variant not provided [RCV000960297] Chr17:58508178 [GRCh38]
Chr17:56585539 [GRCh37]
Chr17:17q22
benign
NM_004687.5(MTMR4):c.384T>C (p.Phe128=) single nucleotide variant not provided [RCV000960298] Chr17:58508751 [GRCh38]
Chr17:56586112 [GRCh37]
Chr17:17q22
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7452 AgrOrtholog
COSMIC MTMR4 COSMIC
Ensembl Genes ENSG00000108389 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000325285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000462869 UniProtKB/TrEMBL
  ENSP00000463259 UniProtKB/TrEMBL
  ENSP00000463479 UniProtKB/TrEMBL
  ENSP00000464067 UniProtKB/TrEMBL
  ENSP00000464247 UniProtKB/TrEMBL
  ENSP00000464588 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323456 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000579921 UniProtKB/TrEMBL
  ENST00000579925 UniProtKB/TrEMBL
  ENST00000582390 UniProtKB/TrEMBL
  ENST00000582663 UniProtKB/TrEMBL
  ENST00000583243 UniProtKB/TrEMBL
  ENST00000583656 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108389 GTEx
HGNC ID HGNC:7452 ENTREZGENE
Human Proteome Map MTMR4 Human Proteome Map
InterPro MTMR4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTMR4_PH-GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin-like_Pase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9110 UniProtKB/Swiss-Prot
NCBI Gene 9110 ENTREZGENE
OMIM 603559 OMIM
PANTHER PTHR10807 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10807:SF64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotub-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31255 PharmGKB
PROSITE PPASE_MYOTUBULARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.514373 ENTREZGENE
UniProt J3KT95_HUMAN UniProtKB/TrEMBL
  J3QKV8_HUMAN UniProtKB/TrEMBL
  J3QLB9_HUMAN UniProtKB/TrEMBL
  J3QR65_HUMAN UniProtKB/TrEMBL
  J3QRJ2_HUMAN UniProtKB/TrEMBL
  J3QS98_HUMAN UniProtKB/TrEMBL
  MTMR4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DTZ6 UniProtKB/Swiss-Prot
  Q8IV27 UniProtKB/Swiss-Prot
  Q9Y4D5 UniProtKB/Swiss-Prot