Tmem117 MGI Mouse Gene Detail - MGI:2444580

Symbol

Tmem117
Name

transmembrane protein 117
Synonyms

B930062P21Rik

Feature Type

protein coding gene
IDs

MGI:2444580
NCBI Gene: 320709
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr15:94527113-94993979 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 48.65 cM
Mapping Data

1 experiment

SNPs within 2kb

15040 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444580	protein coding gene	Chr15:94527066-94993979 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022262	protein coding gene	Chr15:96096819-96589349 (+)
A/J	MGP_AJ_G0022221	protein coding gene	Chr15:92356704-92834625 (+)
AKR/J	MGP_AKRJ_G0022196	protein coding gene	Chr15:95146099-95633101 (+)
BALB/cJ	MGP_BALBcJ_G0022227	protein coding gene	Chr15:92522427-93003209 (+)
C3H/HeJ	MGP_C3HHeJ_G0021997	protein coding gene	Chr15:95163287-95650602 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022672	protein coding gene	Chr15:99648220-100159369 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020198	protein coding gene	Chr15:88383990-88844527 (+)
CAST/EiJ	MGP_CASTEiJ_G0021519	protein coding gene	Chr15:95986283-96489302 (+)
CBA/J	MGP_CBAJ_G0021964	protein coding gene	Chr15:102971654-103500758 (+)
DBA/2J	MGP_DBA2J_G0022091	protein coding gene	Chr15:91803876-92277240 (+)
FVB/NJ	MGP_FVBNJ_G0022070	protein coding gene	Chr15:90808833-91281741 (+)
LP/J	MGP_LPJ_G0022162	protein coding gene	Chr15:96221285-96718278 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022090	protein coding gene	Chr15:107262673-107788309 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022687	protein coding gene	Chr15:95228777-95717131 (+)
PWK/PhJ	MGP_PWKPhJ_G0021260	protein coding gene	Chr15:91861280-92338413 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021094	protein coding gene	Chr15:94974969-95484014 (+)
WSB/EiJ	MGP_WSBEiJ_G0021568	protein coding gene	Chr15:95735751-96216926 (+)

Human Ortholog

TMEM117, transmembrane protein 117

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMEM117, transmembrane protein 117
Links

HGNC:25308

NCBI Gene ID: 84216

neXtProt AC: NX_Q9H0C3

UniProt: Q9H0C3
Chr Location

12q12; chr12:43795802-44399108 (+) GRCh38

MGI Vertebrate Homology

Tmem117 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMEM117
Gene Tree

Tmem117

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References

1 with disease annotations

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
28 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

12
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

3
Radiation induced

2
Targeted

3
Transposon induced

1
Genomic Mutations

3 involving Tmem117
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice with loss of expression in the posterior pituitary display loss of vassopressin neurons and transient increases in hypoglycemia induced glucagon secretion.

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All GO Annotations

7
GO References

4

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

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

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmem117

ZFIN tmem117

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All Sequences

34
RefSeq

2
UniProt

1
CCDS

CCDS27774.1

Ensembl

ENSMUSG00000063296 (Evidence)
NCBI Gene

320709

			Length	Strain/Species	Flank
genomic	ENSMUSG00000063296	Ensembl Gene Model \| MGI Sequence Detail	466867	C57BL/6J	± kb
transcript	ENSMUST00000080141	Ensembl \| MGI Sequence Detail	2717	Not Applicable
polypeptide	ENSMUSP00000079038	Ensembl \| MGI Sequence Detail	514	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000032756 transmembrane protein 117

(term hierarchy)
InterPro Domains

IPR029370 TMEM117 protein
GlyGen

Q8BH18 2 sites

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All nucleic 7

cDNA 7

Microarray probesets 3

Summaries

All 48

Diseases 1

Gene Ontology 4

Phenotypes 28
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

J:341551 Yang Y, et al., Transmembrane protein 117 knockdown protects against angiotensin-II-induced cardiac hypertrophy. Hypertens Res. 2023 Oct;46(10):2326-2339

TSS for Tmem117:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr132785	Chr15:94526787-94526803 (+)	-318 bp
Tssr132786	Chr15:94526963-94527010 (+)	-126 bp
Tssr132787	Chr15:94527029-94527040 (+)	-78 bp
Tssr132788	Chr15:94527117-94527151 (+)	21 bp
Tssr4700	Chr15:94613227-94613231 (+)	86,116 bp
Tssr132789	Chr15:94894763-94894768 (+)	367,653 bp
Tssr132790	Chr15:94993281-94993286 (+)	466,171 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24