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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

Gene Tree: Tmem43

Human
homologs
Human Homolog TMEM43, transmembrane protein 43
NCBI Gene ID 79188
neXtProt AC  NX_Q9BTV4
Human Synonyms  ARVC5, ARVD5, EDMD7, LUMA
Human Chr (Location)  3p25.1; chr3:14124940-14143680 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human TMEM43
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(7) Targeted(4)
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)   
Theiler Stages: 17
Assay TypeResults
RNA in situ 1
cDNA source data(154)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(154) cDNA(154)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000023824 (Evidence)
Ensembl Gene ModelENSMUSG00000030095 (Evidence)
Entrez Gene74122 (Evidence)
UniGene38801
DFCITC1572339
DoTSDT.101715667, DT.50317022
NIA Mouse Gene IndexU007179
Consensus CDS ProjectCCDS20368.1
International Mouse Knockout Project StatusTmem43
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
08/19/2014
MGI 5.19
The Jackson Laboratory