About   Help   FAQ
Tmem43 Gene Detail
Summary
  • Symbol
    Tmem43
  • Name
    transmembrane protein 43
  • Synonyms
    1200015A22Rik, LUMA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921372
    NCBI Gene: 74122
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:91450689-91465445 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 6, 40.54 cM, cytoband D2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    191 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (+)



Homology
more
  • 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
    NCBI Gene ID: 79188
    neXtProt AC: NX_Q9BTV4
    UniProt: Q9BTV4

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

Human Diseases
more
  • Diseases
    4 with human TMEM43 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 4 alleles in 4 genetic backgrounds
    17 phenotype references
Phenotype Overview

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.
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).
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
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  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 155
    cDNA 155

    Microarray probesets 3
References
more
  • Summaries
    All 43
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 17
  • 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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

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
03/12/2024
MGI 6.23
The Jackson Laboratory