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Mtmr12 Gene Detail
Summary
  • Symbol
    Mtmr12
  • Name
    myotubularin related protein 12
  • Synonyms
    C730015A02Rik, mKIAA1682, Pip3ap
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443034
    NCBI Gene: 268783
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:12205056-12272326 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 5.90 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1951 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443034
 protein coding gene Chr15:12205056-12274582 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021735
 protein coding gene Chr15:9429989-9500752 (+)
A/J MGP_AJ_G0021695
 protein coding gene Chr15:9133922-9202455 (+)
AKR/J MGP_AKRJ_G0021673
 protein coding gene Chr15:9380488-9458077 (+)
BALB/cJ MGP_BALBcJ_G0021702
 protein coding gene Chr15:9042850-9109384 (+)
C3H/HeJ MGP_C3HHeJ_G0021478
 protein coding gene Chr15:9337539-9406272 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022141
 protein coding gene Chr15:9783603-9852953 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019682
 protein coding gene Chr15:8664961-8732483 (+)
CAST/EiJ MGP_CASTEiJ_G0020994
 protein coding gene Chr15:9428975-9499205 (+)
CBA/J MGP_CBAJ_G0021447
 protein coding gene Chr15:10064380-10135784 (+)
DBA/2J MGP_DBA2J_G0021571
 protein coding gene Chr15:8991734-9059004 (+)
FVB/NJ MGP_FVBNJ_G0021549
 protein coding gene Chr15:8842318-8908892 (+)
LP/J MGP_LPJ_G0021639
 protein coding gene Chr15:9353819-9423348 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021574
 protein coding gene Chr15:10302006-10370143 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022164
 protein coding gene Chr15:9377323-9455934 (+)
PWK/PhJ MGP_PWKPhJ_G0020737
 protein coding gene Chr15:9175021-9246476 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020575
 protein coding gene Chr15:9322882-9388684 (+)
WSB/EiJ MGP_WSBEiJ_G0021050
 protein coding gene Chr15:9363886-9434324 (+)



Homology
more
  • Human Ortholog
    MTMR12, myotubularin related protein 12
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTMR12, myotubularin related protein 12
  • Synonyms
    3-PAP, PIP3AP
  • Links
    NCBI Gene ID: 54545
    neXtProt AC: NX_Q9C0I1
    UniProt: Q9C0I1

  • Chr Location
    5p13.3; chr5:32226994-32312987 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    7
  • GO References
    3
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    67
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 268783 NCBI Gene Model | MGI Sequence Detail 67271 C57BL/6J ±  kb
transcript NM_172958 RefSeq | MGI Sequence Detail 4584 C57BL/6  
polypeptide Q80TA6 UniProt | EBI | MGI Sequence Detail 747 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000010734 myotubularin-related protein 12
    (term hierarchy)
  • InterPro Domains
    IPR030564 Myotubularin family
    IPR010569 Myotubularin-like, phosphatase domain
    IPR022587 Myotubularin-related 12-like C-terminal domain
    IPR030576 Myotubularin-related protein 12, protein tyrosine phosphatase-like pseudophosphatase domain
    IPR011993 PH-like domain superfamily
    IPR029021 Protein-tyrosine phosphatase-like
  • GlyGen
    Q80TA6 2 sites, 1 N-linked glycan (2 sites)
Molecular
Reagents
less
  • All nucleic 67
    cDNA 67

    Microarray probesets 4
References
more
  • Summaries
    All 34
    Gene Ontology 3
    Phenotypes 14
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory