Mtmr12 MGI Mouse Gene Detail - MGI:2443034 - myotubularin related protein 12

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

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

SNPs within 2kb

429 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:18191

NCBI Gene ID: 54545

neXtProt AC: NX_Q9C0I1

UniProt: Q9C0I1
Chr Location

5p13.3; chr5:32226994-32312987 (-) GRCh38

MGI Vertebrate Homology

Mtmr12 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MTMR12
Gene Tree

Mtmr12

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

48
Endonuclease-mediated

1
Gene trapped

44
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

40 strains or lines available

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All GO Annotations

7
GO References

4

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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mtmr12

ZFIN mtmr12

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All Sequences

52
RefSeq

7
UniProt

3
CCDS

CCDS27388.1

Ensembl

ENSMUSG00000039458 (Evidence)
NCBI Gene

268783

			Length	Strain/Species	Flank
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

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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

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All nucleic 67

cDNA 67

Microarray probesets 4

Summaries

All 34

Gene Ontology 4

Phenotypes 13
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

TSS for Mtmr12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr130724	Chr15:12205095-12205126 (+)	55 bp
Tssr130725	Chr15:12205135-12205150 (+)	87 bp
Tssr130726	Chr15:12205154-12205205 (+)	124 bp
Tssr130727	Chr15:12205216-12205239 (+)	172 bp
Tssr130728	Chr15:12215274-12215305 (+)	10,234 bp
Tssr130729	Chr15:12230520-12230529 (+)	25,469 bp
Tssr130730	Chr15:12230567-12230570 (+)	25,513 bp
Tssr130731	Chr15:12234413-12234414 (+)	29,358 bp
Tssr130732	Chr15:12240540-12240544 (+)	35,486 bp
Tssr130733	Chr15:12248886-12248890 (+)	43,832 bp

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)
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