MTMR12 (myotubularin related protein 12) - Rat Genome Database

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Gene: MTMR12 (myotubularin related protein 12) Homo sapiens
Analyze
Symbol: MTMR12
Name: myotubularin related protein 12
RGD ID: 1317364
HGNC Page HGNC:18191
Description: Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3-PAP; 3-phosphatase adapter protein; 3-phosphatase adapter subunit; inactive phosphatidylinositol 3-phosphatase 12; myotubularin-related protein 12; phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit; phosphatidylinositol-3 phosphate 3-phosphatase adapter subunit; phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit; phosphatidylinositol-3-phosphate associated protein; PIP3AP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MTMR12P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38532,227,007 - 32,312,939 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl532,226,994 - 32,312,987 (-)EnsemblGRCh38hg38GRCh38
GRCh37532,227,113 - 32,313,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36532,262,868 - 32,348,871 (-)NCBINCBI36Build 36hg18NCBI36
Build 34532,262,868 - 32,348,832NCBI
Celera532,108,592 - 32,194,879 (-)NCBICelera
Cytogenetic Map5p13.3NCBI
HuRef532,194,163 - 32,280,094 (-)NCBIHuRef
CHM1_1532,228,743 - 32,314,719 (-)NCBICHM1_1
T2T-CHM13v2.0532,340,660 - 32,426,631 (-)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

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)
membrane  (IEA)
sarcomere  (IEA)
sarcoplasmic reticulum  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11214970   PMID:11504939   PMID:12477932   PMID:12495846   PMID:12847286   PMID:14702039   PMID:16787938   PMID:20379614   PMID:21451436   PMID:21873635   PMID:23818870   PMID:24255178  
PMID:25659891   PMID:26344197   PMID:26496610   PMID:27432908   PMID:27880917   PMID:28514442   PMID:28675297   PMID:29507755   PMID:30945288   PMID:33541421   PMID:33961781   PMID:34079125  
PMID:34315543   PMID:35271311   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36470425   PMID:36931259   PMID:37827155  


Genomics

Comparative Map Data
MTMR12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38532,227,007 - 32,312,939 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl532,226,994 - 32,312,987 (-)EnsemblGRCh38hg38GRCh38
GRCh37532,227,113 - 32,313,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36532,262,868 - 32,348,871 (-)NCBINCBI36Build 36hg18NCBI36
Build 34532,262,868 - 32,348,832NCBI
Celera532,108,592 - 32,194,879 (-)NCBICelera
Cytogenetic Map5p13.3NCBI
HuRef532,194,163 - 32,280,094 (-)NCBIHuRef
CHM1_1532,228,743 - 32,314,719 (-)NCBICHM1_1
T2T-CHM13v2.0532,340,660 - 32,426,631 (-)NCBIT2T-CHM13v2.0
Mtmr12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391512,205,056 - 12,272,326 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1512,205,114 - 12,274,582 (+)EnsemblGRCm39 Ensembl
GRCm381512,204,970 - 12,272,240 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1512,205,028 - 12,274,496 (+)EnsemblGRCm38mm10GRCm38
MGSCv371512,134,849 - 12,201,995 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361512,149,819 - 12,216,965 (+)NCBIMGSCv36mm8
Celera1512,009,814 - 12,051,732 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map155.9NCBI
Mtmr12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8262,950,722 - 63,020,319 (+)NCBIGRCr8
mRatBN7.2261,223,714 - 61,293,270 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl261,223,851 - 61,293,197 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx268,360,139 - 68,424,321 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0266,473,254 - 66,537,665 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0261,474,712 - 61,539,129 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0262,236,497 - 62,305,995 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl262,236,577 - 62,303,919 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0282,383,865 - 82,452,904 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4261,665,059 - 61,729,291 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1261,593,291 - 61,657,523 (+)NCBI
Celera257,406,567 - 57,470,784 (-)NCBICelera
Cytogenetic Map2q16NCBI
Mtmr12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542618,093,843 - 18,146,148 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542618,093,843 - 18,152,013 (-)NCBIChiLan1.0ChiLan1.0
MTMR12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2477,991,229 - 78,076,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1576,144,859 - 76,230,497 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0578,021,379 - 78,107,029 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1583,404,193 - 83,489,556 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl583,419,703 - 83,490,944 (+)Ensemblpanpan1.1panPan2
MTMR12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1475,166,758 - 75,220,084 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl475,146,379 - 75,217,730 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha474,784,080 - 74,857,834 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0475,667,297 - 75,740,673 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1475,404,241 - 75,477,740 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0475,533,312 - 75,606,674 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0476,063,656 - 76,137,018 (+)NCBIUU_Cfam_GSD_1.0
Mtmr12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213222,837,256 - 222,916,192 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365188,455,621 - 8,534,697 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365188,455,669 - 8,534,583 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTMR12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1618,461,129 - 18,537,908 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11618,461,120 - 18,537,893 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MTMR12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1431,515,499 - 31,602,391 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl431,513,721 - 31,602,256 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607121,742,848 - 21,829,471 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtmr12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475922,233,237 - 22,305,919 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475922,233,633 - 22,305,715 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTMR12
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 copy number loss See cases [RCV000053449] Chr5:30149035..35213678 [GRCh38]
Chr5:30149142..35213780 [GRCh37]
Chr5:30184899..35249537 [NCBI36]
Chr5:5p13.3-13.2
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
NM_001040446.1:c.713+9C>T single nucleotide variant Malignant melanoma of skin [RCV000149748] Chr5:5p13.3 not provided
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2
likely pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
NM_001040446.2(MTMR12):c.331C>T (p.Leu111Phe) single nucleotide variant Malignant melanoma of skin [RCV000149747] Chr5:32271860 [GRCh38]
Chr5:32271966 [GRCh37]
not provided
NM_001040446.2(MTMR12):c.2038G>A (p.Glu680Lys) single nucleotide variant Malignant melanoma of skin [RCV000149749] Chr5:32229984 [GRCh38]
Chr5:32230090 [GRCh37]
not provided
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001040446.3(MTMR12):c.2075C>G (p.Ala692Gly) single nucleotide variant Inborn genetic diseases [RCV003292298] Chr5:32229947 [GRCh38]
Chr5:32230053 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.848A>C (p.Lys283Thr) single nucleotide variant Inborn genetic diseases [RCV003278047] Chr5:32248820 [GRCh38]
Chr5:32248926 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.884G>A (p.Ser295Asn) single nucleotide variant Inborn genetic diseases [RCV003291182] Chr5:32248784 [GRCh38]
Chr5:32248890 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1514G>A (p.Gly505Asp) single nucleotide variant Inborn genetic diseases [RCV003295460] Chr5:32233933 [GRCh38]
Chr5:32234039 [GRCh37]
Chr5:5p13.3
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p13.3(chr5:32312505-32313032)x0 copy number loss not provided [RCV000744596] Chr5:32312505..32313032 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3(chr5:32312505-32313087)x1 copy number loss not provided [RCV000744597] Chr5:32312505..32313087 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3(chr5:32312544-32321077)x1 copy number loss not provided [RCV000744598] Chr5:32312544..32321077 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3(chr5:32312544-32326234)x3 copy number gain not provided [RCV000744599] Chr5:32312544..32326234 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3(chr5:32312607-32317439)x3 copy number gain not provided [RCV000744600] Chr5:32312607..32317439 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3(chr5:32312658-32317439)x4 copy number gain not provided [RCV000744601] Chr5:32312658..32317439 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3(chr5:32312658-32321077)x4 copy number gain not provided [RCV000744602] Chr5:32312658..32321077 [GRCh37]
Chr5:5p13.3
benign
NM_001040446.3(MTMR12):c.948C>T (p.Asp316=) single nucleotide variant not provided [RCV000971508] Chr5:32248075 [GRCh38]
Chr5:32248181 [GRCh37]
Chr5:5p13.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_001040446.3(MTMR12):c.1826T>C (p.Phe609Ser) single nucleotide variant not provided [RCV000974011] Chr5:32230196 [GRCh38]
Chr5:32230302 [GRCh37]
Chr5:5p13.3
benign
GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1 copy number loss not provided [RCV001005668] Chr5:29720391..34124081 [GRCh37]
Chr5:5p13.3-13.2
uncertain significance
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11
pathogenic
NM_001040446.3(MTMR12):c.838G>A (p.Ala280Thr) single nucleotide variant Inborn genetic diseases [RCV003259458] Chr5:32248830 [GRCh38]
Chr5:32248936 [GRCh37]
Chr5:5p13.3
uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11
pathogenic
NM_001040446.3(MTMR12):c.2129T>C (p.Leu710Pro) single nucleotide variant Inborn genetic diseases [RCV002990095] Chr5:32229893 [GRCh38]
Chr5:32229999 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.2224G>A (p.Val742Met) single nucleotide variant Inborn genetic diseases [RCV002733627] Chr5:32229798 [GRCh38]
Chr5:32229904 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1995G>C (p.Leu665Phe) single nucleotide variant Inborn genetic diseases [RCV002887851] Chr5:32230027 [GRCh38]
Chr5:32230133 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1666C>T (p.Arg556Cys) single nucleotide variant Inborn genetic diseases [RCV002759329] Chr5:32233781 [GRCh38]
Chr5:32233887 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1375G>A (p.Val459Ile) single nucleotide variant Inborn genetic diseases [RCV002782009] Chr5:32235099 [GRCh38]
Chr5:32235205 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1669T>C (p.Phe557Leu) single nucleotide variant Inborn genetic diseases [RCV002849911] Chr5:32233778 [GRCh38]
Chr5:32233884 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1667G>A (p.Arg556His) single nucleotide variant Inborn genetic diseases [RCV002985923] Chr5:32233780 [GRCh38]
Chr5:32233886 [GRCh37]
Chr5:5p13.3
likely benign
NM_001040446.3(MTMR12):c.1753C>A (p.His585Asn) single nucleotide variant Inborn genetic diseases [RCV002965533] Chr5:32230269 [GRCh38]
Chr5:32230375 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1120A>C (p.Ile374Leu) single nucleotide variant Inborn genetic diseases [RCV002921381] Chr5:32242108 [GRCh38]
Chr5:32242214 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1456A>G (p.Ile486Val) single nucleotide variant Inborn genetic diseases [RCV002656930] Chr5:32235018 [GRCh38]
Chr5:32235124 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.766C>T (p.Arg256Cys) single nucleotide variant Inborn genetic diseases [RCV003205453] Chr5:32255716 [GRCh38]
Chr5:32255822 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1422G>T (p.Glu474Asp) single nucleotide variant Inborn genetic diseases [RCV003202817] Chr5:32235052 [GRCh38]
Chr5:32235158 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.817A>C (p.Ser273Arg) single nucleotide variant Inborn genetic diseases [RCV003371843] Chr5:32248851 [GRCh38]
Chr5:32248957 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.1601C>G (p.Thr534Arg) single nucleotide variant Inborn genetic diseases [RCV003376424] Chr5:32233846 [GRCh38]
Chr5:32233952 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.779A>G (p.His260Arg) single nucleotide variant Inborn genetic diseases [RCV003372545] Chr5:32255703 [GRCh38]
Chr5:32255809 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.563C>G (p.Thr188Ser) single nucleotide variant Inborn genetic diseases [RCV003353377] Chr5:32268721 [GRCh38]
Chr5:32268827 [GRCh37]
Chr5:5p13.3
uncertain significance
NM_001040446.3(MTMR12):c.211G>A (p.Val71Ile) single nucleotide variant Inborn genetic diseases [RCV003376016] Chr5:32274054 [GRCh38]
Chr5:32274160 [GRCh37]
Chr5:5p13.3
likely benign
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3173
Count of miRNA genes:1016
Interacting mature miRNAs:1206
Transcripts:ENST00000264934, ENST00000280285, ENST00000382142, ENST00000504049, ENST00000505419, ENST00000510216, ENST00000513622
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.

Markers in Region
RH67393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,230,095 - 32,230,308UniSTSGRCh37
Build 36532,265,852 - 32,266,065RGDNCBI36
Celera532,111,576 - 32,111,789RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,197,147 - 32,197,360UniSTS
RH26387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711101,092,809 - 101,092,950UniSTSGRCh37
GRCh37532,227,155 - 32,227,292UniSTSGRCh37
Build 36532,262,912 - 32,263,049RGDNCBI36
Celera1198,262,303 - 98,262,444UniSTS
Celera532,108,636 - 32,108,773RGD
Cytogenetic Map5p13.3UniSTS
HuRef1197,029,996 - 97,030,137UniSTS
HuRef532,194,207 - 32,194,344UniSTS
RH119456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,276,273 - 32,276,549UniSTSGRCh37
Build 36532,312,030 - 32,312,306RGDNCBI36
Celera532,158,113 - 32,158,389RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,243,254 - 32,243,530UniSTS
TNG Radiation Hybrid Map515069.0UniSTS
G62969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,284,571 - 32,284,889UniSTSGRCh37
Build 36532,320,328 - 32,320,646RGDNCBI36
Celera532,166,336 - 32,166,654RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,251,551 - 32,251,869UniSTS
TNG Radiation Hybrid Map515073.0UniSTS
SHGC-148577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,293,741 - 32,294,012UniSTSGRCh37
Build 36532,329,498 - 32,329,769RGDNCBI36
Celera532,175,506 - 32,175,777RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,260,721 - 32,260,992UniSTS
TNG Radiation Hybrid Map515084.0UniSTS
SHGC-154201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,252,102 - 32,252,383UniSTSGRCh37
Build 36532,287,859 - 32,288,140RGDNCBI36
Celera532,133,943 - 32,134,224RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,219,083 - 32,219,364UniSTS
TNG Radiation Hybrid Map515057.0UniSTS
D5S562E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,256,871 - 32,256,952UniSTSGRCh37
Build 36532,292,628 - 32,292,709RGDNCBI36
Celera532,138,712 - 32,138,793RGD
HuRef532,223,852 - 32,223,933UniSTS
RH48207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,311,974 - 32,312,125UniSTSGRCh37
Build 36532,347,731 - 32,347,882RGDNCBI36
Celera532,193,739 - 32,193,890RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,278,954 - 32,279,105UniSTS
GeneMap99-GB4 RH Map5119.88UniSTS
1122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,256,848 - 32,256,965UniSTSGRCh37
Build 36532,292,605 - 32,292,722RGDNCBI36
Celera532,138,689 - 32,138,806RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,223,829 - 32,223,946UniSTS
GeneMap99-GB4 RH Map5118.09UniSTS
G32701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,230,095 - 32,230,308UniSTSGRCh37
Celera532,111,576 - 32,111,789UniSTS
Cytogenetic Map5p13.3UniSTS
HuRef532,197,147 - 32,197,360UniSTS


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 2154 1408 1335 383 1108 230 3542 940 2030 316 1428 1589 167 1204 1984 3 2
Low 285 1577 391 241 837 235 815 1257 1704 103 32 24 8 1 804 3
Below cutoff 6 6

Sequence


RefSeq Acc Id: ENST00000264934   ⟹   ENSP00000264934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,229,608 - 32,312,969 (-)Ensembl
RefSeq Acc Id: ENST00000280285   ⟹   ENSP00000280285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,226,994 - 32,312,938 (-)Ensembl
RefSeq Acc Id: ENST00000382142   ⟹   ENSP00000371577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,227,007 - 32,312,939 (-)Ensembl
RefSeq Acc Id: ENST00000504049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,243,521 - 32,255,937 (-)Ensembl
RefSeq Acc Id: ENST00000505419   ⟹   ENSP00000426028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,268,701 - 32,312,987 (-)Ensembl
RefSeq Acc Id: ENST00000510216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,230,085 - 32,233,893 (-)Ensembl
RefSeq Acc Id: ENST00000513622   ⟹   ENSP00000426912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,271,833 - 32,312,924 (-)Ensembl
RefSeq Acc Id: NM_001040446   ⟹   NP_001035536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,227,007 - 32,312,939 (-)NCBI
GRCh37532,227,111 - 32,313,114 (-)RGD
Build 36532,262,868 - 32,348,871 (-)NCBI Archive
Celera532,108,592 - 32,194,879 (-)RGD
HuRef532,194,163 - 32,280,094 (-)RGD
CHM1_1532,228,745 - 32,314,719 (-)NCBI
T2T-CHM13v2.0532,340,660 - 32,426,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001294343   ⟹   NP_001281272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,227,007 - 32,312,939 (-)NCBI
CHM1_1532,228,745 - 32,314,719 (-)NCBI
T2T-CHM13v2.0532,340,660 - 32,426,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001294344   ⟹   NP_001281273
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,227,007 - 32,312,939 (-)NCBI
CHM1_1532,228,745 - 32,314,719 (-)NCBI
T2T-CHM13v2.0532,340,660 - 32,426,631 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001035536   ⟸   NM_001040446
- Peptide Label: isoform 1
- UniProtKB: Q96QU2 (UniProtKB/Swiss-Prot),   Q6PFW3 (UniProtKB/Swiss-Prot),   Q69YJ4 (UniProtKB/Swiss-Prot),   Q9NX27 (UniProtKB/Swiss-Prot),   Q9C0I1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001281273   ⟸   NM_001294344
- Peptide Label: isoform 3
- UniProtKB: Q9C0I1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001281272   ⟸   NM_001294343
- Peptide Label: isoform 2
- UniProtKB: Q9C0I1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000426028   ⟸   ENST00000505419
RefSeq Acc Id: ENSP00000280285   ⟸   ENST00000280285
RefSeq Acc Id: ENSP00000426912   ⟸   ENST00000513622
RefSeq Acc Id: ENSP00000264934   ⟸   ENST00000264934
RefSeq Acc Id: ENSP00000371577   ⟸   ENST00000382142
Protein Domains
Myotubularin phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0I1-F1-model_v2 AlphaFold Q9C0I1 1-747 view protein structure

Promoters
RGD ID:6869322
Promoter ID:EPDNEW_H7826
Type:initiation region
Name:MTMR12_1
Description:myotubularin related protein 12
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
GRCh38532,312,924 - 32,312,984EPDNEW
RGD ID:6803381
Promoter ID:HG_KWN:49908
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:ENST00000264934,   ENST00000280285,   NM_001040446
Position:
Human AssemblyChrPosition (strand)Source
Build 36532,348,736 - 32,349,822 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18191 AgrOrtholog
COSMIC MTMR12 COSMIC
Ensembl Genes ENSG00000150712 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264934 ENTREZGENE
  ENST00000264934.5 UniProtKB/Swiss-Prot
  ENST00000280285 ENTREZGENE
  ENST00000280285.9 UniProtKB/Swiss-Prot
  ENST00000382142 ENTREZGENE
  ENST00000382142.8 UniProtKB/Swiss-Prot
  ENST00000505419.5 UniProtKB/TrEMBL
  ENST00000513622.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000150712 GTEx
HGNC ID HGNC:18191 ENTREZGENE
Human Proteome Map MTMR12 Human Proteome Map
InterPro MTMR12 UniProtKB/Swiss-Prot
  MTMR12-like_C UniProtKB/Swiss-Prot
  Myotubularin-like_Pase_dom UniProtKB/Swiss-Prot
  Myotubularin_fam UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot
KEGG Report hsa:54545 UniProtKB/Swiss-Prot
NCBI Gene 54545 ENTREZGENE
OMIM 606501 OMIM
PANTHER PTHR10807 UniProtKB/Swiss-Prot
  PTHR10807:SF37 UniProtKB/Swiss-Prot
Pfam 3-PAP UniProtKB/Swiss-Prot
  Myotub-related UniProtKB/Swiss-Prot
PharmGKB PA128394670 PharmGKB
PROSITE PPASE_MYOTUBULARIN UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
  SSF52799 UniProtKB/Swiss-Prot
UniProt D6RE76_HUMAN UniProtKB/TrEMBL
  D6RHK0_HUMAN UniProtKB/TrEMBL
  MTMRC_HUMAN UniProtKB/Swiss-Prot
  Q69YJ4 ENTREZGENE
  Q6PFW3 ENTREZGENE
  Q96QU2 ENTREZGENE
  Q9C0I1 ENTREZGENE
  Q9NX27 ENTREZGENE
UniProt Secondary Q69YJ4 UniProtKB/Swiss-Prot
  Q6PFW3 UniProtKB/Swiss-Prot
  Q96QU2 UniProtKB/Swiss-Prot
  Q9NX27 UniProtKB/Swiss-Prot