About   Help   FAQ
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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:12205004-12272240 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 5.90 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    429 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 Chr15:12205004-12274496 (.)
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
    10
  • Human Ortholog
    MTMR12, myotubularin related protein 12
    Orthology source: HomoloGene, HGNC
  • Synonyms
    3-PAP, PIP3AP
  • Links
    NCBI Gene ID: 54545
    neXtProt AC: NX_Q9C0I1
    UniProt: Q9C0I1

  • Chr Location
    5p13.3; chr5:32227007-32313008 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10403
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MTMR12
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 268783 NCBI Gene Model | MGI Sequence Detail 67237 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
less
Molecular
Reagents
less
  • All nucleic 67
    cDNA 67

    Microarray probesets 4
References
more
  • Summaries
    All 33
    Gene Ontology 3
    Phenotypes 12
  • 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:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/13/2018
MGI 6.13
The Jackson Laboratory