Mtmr7 MGI Mouse Gene Detail - MGI:1891693 - myotubularin related protein 7

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Mtmr7 Gene Detail

Symbol

Mtmr7
Name

myotubularin related protein 7

Feature Type

protein coding gene
IDs

MGI:1891693
NCBI Gene: 54384
Alliance

gene page
Transcription Start Sites

9 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr8:41004136-41087840 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 23.89 cM, cytoband B1.2
Mapping Data

3 experiments

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SNPs within 2kb

2442 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1891693	protein coding gene	Chr8:41003184-41088210 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0033555	protein coding gene	Chr8:39355428-39441187 (-)
A/J	MGP_AJ_G0033535	protein coding gene	Chr8:37855199-37935685 (-)
AKR/J	MGP_AKRJ_G0033459	protein coding gene	Chr8:38973137-39052303 (-)
BALB/cJ	MGP_BALBcJ_G0033531	protein coding gene	Chr8:37949057-38032633 (-)
C3H/HeJ	MGP_C3HHeJ_G0033243	protein coding gene	Chr8:39367521-39451435 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0034047	protein coding gene	Chr8:40883700-40968606 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030996	protein coding gene	Chr8:34501359-34580795 (-)
CAST/EiJ	MGP_CASTEiJ_G0032571	protein coding gene	Chr8:38898193-38980973 (-)
CBA/J	MGP_CBAJ_G0033221	protein coding gene	Chr8:42542410-42630972 (-)
DBA/2J	MGP_DBA2J_G0033374	protein coding gene	Chr8:37708422-37787562 (-)
FVB/NJ	MGP_FVBNJ_G0033319	protein coding gene	Chr8:37285243-37364202 (-)
LP/J	MGP_LPJ_G0033464	protein coding gene	Chr8:39376379-39462736 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033361	protein coding gene	Chr8:42327542-42413663 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034066	protein coding gene	Chr8:39176943-39259443 (-)
PWK/PhJ	MGP_PWKPhJ_G0032280	protein coding gene	Chr8:37254078-37336786 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0032112	protein coding gene	Chr8:38378052-38459285 (-)
WSB/EiJ	MGP_WSBEiJ_G0032686	protein coding gene	Chr8:39371962-39452731 (-)

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Human Ortholog

MTMR7, myotubularin related protein 7

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MTMR7, myotubularin related protein 7
Links

HGNC:7454

NCBI Gene ID: 9108

neXtProt AC: NX_Q9Y216

UniProt: Q9Y216
Chr Location

8p22; chr8:17296794-17413528 (-) GRCh38

MGI Vertebrate Homology

Mtmr7 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MTMR7
Gene Tree

Mtmr7

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
11 phenotype references

Phenotype Overview

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

43
Endonuclease-mediated

3
Gene trapped

38
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

126 strains or lines available

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All GO Annotations

13
GO References

6

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.

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Expression Overview

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

1129
Tissues

168
cDNA Data

11
Literature Summary

8

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

61
RefSeq

10
UniProt

5
CCDS

CCDS40324.1

Ensembl

ENSMUSG00000039431 (Evidence)
NCBI Gene

54384

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000039431	Ensembl Gene Model \| MGI Sequence Detail	83705	C57BL/6J	± kb
	transcript	ENSMUST00000048898	Ensembl \| MGI Sequence Detail	2488	Not Applicable
	polypeptide	ENSMUSP00000043851	Ensembl \| MGI Sequence Detail	660	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000010740 myotubularin-related protein 7

(term hierarchy)
EC

3.1.3.64
InterPro Domains

IPR036003 MTMR7, PH-GRAM domain

IPR030564 Myotubularin family

IPR010569 Myotubularin-like, phosphatase domain

IPR030572 Myotubularin-related protein 7, protein tyrosine phosphatase domain

IPR011993 PH-like domain superfamily

IPR016130 Protein-tyrosine phosphatase, active site

IPR003595 Protein-tyrosine phosphatase, catalytic

IPR029021 Protein-tyrosine phosphatase-like

IPR000387 Tyrosine-specific protein phosphatases domain
GlyGen

Q9Z2C9 2 sites, 2 N-linked glycans (2 sites)

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All nucleic 15

cDNA 13

Primer pair 2

Microarray probesets 7

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Summaries

All 45

Developmental Gene Expression 8

Gene Ontology 6

Phenotypes 11
Earliest

J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
Latest

J:349238 Weidner P, et al., Myotubularin-related-protein-7 inhibits mutant (G12V) K-RAS by direct interaction. Cancer Lett. 2024 Mar 9;588:216783

TSS for Mtmr7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr81059	Chr8:41087819-41087849 (-)	6 bp
Tssr81058	Chr8:41087793-41087818 (-)	34 bp
Tssr81057	Chr8:41087772-41087787 (-)	60 bp
Tssr81056	Chr8:41051057-41051069 (-)	36,777 bp
Tssr81055	Chr8:41049253-41049259 (-)	38,584 bp
Tssr81054	Chr8:41048207-41048216 (-)	39,628 bp
Tssr81053	Chr8:41048185-41048196 (-)	39,649 bp
Tssr81052	Chr8:41044877-41044885 (-)	42,959 bp
Tssr81051	Chr8:41037723-41037764 (-)	50,096 bp

Mtmr7 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Cdcs4	Chr8, syntenic		J:109420	Microarray analysis was used to identify candidate genes for colitis susceptibility QTLs. Messenger RNA was analyzed for expression differences between colitis susceptible inbred strain C3H/HeJBir-Il10 and colitis resistant inbred strain C57BL/6J-Il10. Capn3 (67.2 cM) on mouse Chromosome 2 is upregulated 1.5- to 2-fold in C3H/HeJBir-Il10 animals. This candidate gene maps to the Cdcs3 (cytokine deficiency colitis susceptibility 3) interval centered near 65 cM. Gbp1 (67.4 cM) on mouse Chromosome 3 is upregulated over 15-fold in C3H/HeJBir-Il10 animals. This candidate gene is known to be polymorphic between C3H/HeJBir and C57BL/6J and exhibits expression differences in these parental wild type strains. Gbp1 maps to the Cdcs1 (cytokine deficiency colitis susceptibility 1) interval centered near 62 cM. Adh1 at 71.2 cM and Bglap2 at 42.6 cM also map to the same QTL interval. Adh1 is upregulated 1.5- to 2-fold, and Blgap2 is upregulated 2- to 5-fold, in C3H/HeJBir-Il10animals. Pla2g2a (68 cM) on mouse Chromosome 4 is upregulated over 15-fold in C3H/HeJBir-Il10 animals. This candidate gene is known to be polymorphic between C3H/HeJBir and C57BL/6J and exhibits expression differences in these parental wild typestrains. Pla2g2a maps to the Cdcs9 (cytokine deficiency colitis susceptibility 9) interval centered near 71 cM. Moreover, C57BL/6J animals are known to carry the frameshift mutation Pla2g2a resulting in multiple intestinal neoplasia. The human ortholog PLA2G2A maps near a irritable bowel disorder (IBD) susceptibility locus named IBD7. Gnb1 (79.4 cM) also maps to the Cdcs9 QTL interval and is upregulated 2- to 5-fold in C57BL/6J-Il10 animals. Errfi1 (formerly 1300002F13Rik) and Tceb3 also map to the Cdcs9 interval and are upregulated 1.5- to 2-fold in C57BL/6J-Il10 animals. Areg (51 cM) on mouse Chromosome 5 maps near the Cdcs10 QTL interval centered around 45 cM. This candidate gene is upregulated 1.5- to 2-fold in C57BL/6J-Il10 animals. Mtmr7 maps to mouse Chromosome 8 near the Cdcs4 interval centered around 21 cM. This candidate gene is upregulated over 15-fold in C57BL/6J-Il10 animals. Cd14 (31 cM) on mouse Chromosome 18 is upregulated 5- to 15-fold in C3H/HeJBir-Il10 animals. CD14 also exhibits expression differences in parental wild type strains C3H/HeJBir and C57BL/6J. This candidate gene maps to the Cdcs6 (cytokine deficiency colitis susceptibility 6) interval centered near 41 cM. The human ortholog CD14 maps near a human irritable bowel disorder (IBD) susceptibility locus named IBD5. Glo1 (16 cM) and Ly6g6c on mouse Chromosome 17 are upregulated 2- to 5-fold in C57BL/6J-Il10 animals. This candidate gene maps to the Cdcs5 (cytokine deficiency colitis susceptibility 5) interval centered near 19 cM. Hspa1a (18.9 cM) and Hspa1b (18.9 cM) also map to Cdcs5 and are upregulated 1.5- to 2-fold in C57BL/6J-Il10 animals.

*cM position of peak correlated region/marker

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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