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Tmem43
Gene Detail
Symbol

Name
ID
Tmem43
transmembrane protein 43
MGI:1921372
Synonyms
1200015A22Rik, LUMA
Feature Type
protein coding gene
Genetic Map
Chromosome 6
40.54 cM, cytoband D2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:91473703-91488459 bp, + strand
From VEGA annotation of GRCm38

  14757 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11532  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: TMEM43
Gene Tree: Tmem43

Human
homologs
TMEM43, transmembrane protein 43
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 79188
neXtProt AC: NX_Q9BTV4

Human Synonyms: ARVC5, ARVD5, EDMD7, LUMA

Human Chr (Location): 3p25.1; chr3:14124940-14143680 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human TMEM43

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(7) Spontaneous(1) Targeted(4)
Genomic Mutations involving Tmem43 (1)
Incidental mutations (data from Mutagenetix , APF )
 
In a gihg-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.
 
Interactions
Tmem43 interacts with 176 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process nuclear membrane organization
Component endoplasmic reticulum, endoplasmic reticulum lumen, ...
Function protein self-association
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (1)    Tissues (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
cDNA source data(154)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase tmem43 ; ZFIN tmem43    NEW 
Molecular
reagents
All nucleic(154) cDNA(154)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000023824 (Evidence)
Ensembl Gene Model ENSMUSG00000030095 (Evidence)
Entrez Gene 74122 (Evidence)
UniGene 38801
DFCI TC1572339
DoTS DT.50317022, DT.101715667
NIA Mouse Gene Index U007179
Consensus CDS Project CCDS20368.1
International Mouse Phenotyping Consortium Status Tmem43
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023824 VEGA Gene Model | MGI Sequence Detail 14757 C57BL/6J ±  kb
transcript OTTMUST00000058195 VEGA | MGI Sequence Detail 2899 Not Applicable 
polypeptide OTTMUSP00000028164 VEGA | MGI Sequence Detail 400 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(191 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR012430 Transmembrane protein 43 family
Protein Ontology PR:000016429 transmembrane protein 43
References
(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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(34)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory