Tmem43 MGI Mouse Gene Detail - MGI:1921372

Symbol

Tmem43
Name

transmembrane protein 43
Synonyms

1200015A22Rik, LUMA

Feature Type

protein coding gene
IDs

MGI:1921372
NCBI Gene: 74122
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:91450689-91465445 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 40.54 cM, cytoband D2
Mapping Data

3 experiments

SNPs within 2kb

435 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921372	protein coding gene	Chr6:91450685-91465445 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031047	protein coding gene	Chr6:93073514-93088274 (+)
A/J	MGP_AJ_G0031016	protein coding gene	Chr6:89526367-89541129 (+)
AKR/J	MGP_AKRJ_G0030947	protein coding gene	Chr6:92013897-92028657 (+)
BALB/cJ	MGP_BALBcJ_G0031027	protein coding gene	Chr6:89467390-89482152 (+)
C3H/HeJ	MGP_C3HHeJ_G0030681	protein coding gene	Chr6:92416104-92430864 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031486	protein coding gene	Chr6:95491386-95506146 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028654	protein coding gene	Chr6:87509603-87515131 (+)
CAST/EiJ	MGP_CASTEiJ_G0030134	protein coding gene	Chr6:92124453-92139278 (+)
CBA/J	MGP_CBAJ_G0030713	protein coding gene	Chr6:99044284-99059044 (+)
DBA/2J	MGP_DBA2J_G0030866	protein coding gene	Chr6:88708827-88723587 (+)
FVB/NJ	MGP_FVBNJ_G0030820	protein coding gene	Chr6:87917698-87932458 (+)
LP/J	MGP_LPJ_G0030946	protein coding gene	Chr6:93028379-93043139 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030854	protein coding gene	Chr6:103098107-103112867 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031513	protein coding gene	Chr6:91851692-91866452 (+)
PWK/PhJ	MGP_PWKPhJ_G0029850	protein coding gene	Chr6:87661814-87676574 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029679	protein coding gene	Chr6:90766475-90781265 (+)
WSB/EiJ	MGP_WSBEiJ_G0030218	protein coding gene	Chr6:92326044-92340804 (+)

Human Ortholog

TMEM43, transmembrane protein 43

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMEM43, transmembrane protein 43
Synonyms

ARVC5, ARVD5, AUNA3, EDMD7, EDMD7; AUNA2, LUMA
Links

HGNC:28472

NCBI Gene ID: 79188

neXtProt AC: NX_Q9BTV4

UniProt: Q9BTV4
Chr Location

3p25.1; chr3:14125015-14143680 (+) GRCh38

MGI Vertebrate Homology

Tmem43 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMEM43
Gene Tree

Tmem43

Diseases

4 with human TMEM43 associations

				Human Disease	Mouse Models
				arrhythmogenic right ventricular cardiomyopathy IDs arrhythmogenic right ventricular cardiomyopathy DOID:0050431 MESH:D019571 NCI:C84571 OMIM:PS107970 ORDO:217656 ORDO:247 UMLS_CUI:C0349788
				arrhythmogenic right ventricular dysplasia 5 IDs arrhythmogenic right ventricular dysplasia 5 DOID:0110074 ICD10CM:I42.8 OMIM:604400
				autosomal dominant auditory neuropathy 3 IDs autosomal dominant auditory neuropathy 3 DOID:0112373 OMIM:619832
				autosomal dominant Emery-Dreifuss muscular dystrophy 7 IDs autosomal dominant Emery-Dreifuss muscular dystrophy 7 DOID:0070252 OMIM:614302

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

10 phenotypes from 4 alleles in 4 genetic backgrounds
18 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

19
Endonuclease-mediated

6
Gene trapped

7
Spontaneous

1
Targeted

5
Genomic Mutations

1 involving Tmem43
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available

In a high-throughput screen, female homozygous mutant mice exhibited an increased anxiety-like response during open field activity testing when compared with their gender-matched wild-type littermates and the historical mean. Homozygous KO or certain codon substitution mutants don't affect heart function. A nonsense mutation leads to auditory neuropathy spectrum disorder (ANSD).

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All GO Annotations

14
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

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

724
Tissues

12
cDNA Data

155
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmem43

ZFIN tmem43

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All Sequences

44
RefSeq

2
UniProt

1
CCDS

CCDS20368.1

Ensembl

ENSMUSG00000030095 (Evidence)
NCBI Gene

74122

			Length	Strain/Species	Flank
genomic	74122	NCBI Gene Model \| MGI Sequence Detail	14757	C57BL/6J	± kb
transcript	NM_028766	RefSeq \| MGI Sequence Detail	2899	C57BL/6
polypeptide	Q9DBS1	UniProt \| EBI \| MGI Sequence Detail	400	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000016429 transmembrane protein 43

(term hierarchy)
InterPro Domains

IPR012430 Transmembrane protein 43 family
GlyGen

Q9DBS1 1 site, 1 N-linked glycan (1 site)

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All nucleic 155

cDNA 155

Microarray probesets 3

Summaries

All 46

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 18
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Tmem43:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57723	Chr6:91450677-91450769 (+)	34 bp
Tssr57724	Chr6:91453754-91453784 (+)	3,080 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 11/19/2024 MGI 6.24