• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMEM43 (HGNC:28472) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane protein 43
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ARVD5
Alias symbols
MGC3222, DKFZp586G1919, LUMA
%HI
43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
3p25.1
Genomic Coordinates
GRCh37/hg19: chr3:14166552-14185180 NCBI Ensembl UCSC
GRCh38/hg38: chr3:14125052-14143680 NCBI Ensembl UCSC
MANE Select Transcript
NM_024334.3 ENST00000306077.5 (Read more about MANE Select)
Function
May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30216
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/08/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
TMEM43 only heterozygous point mutations within the gene have been described in families with arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID:21214875, 23812740, 24598986,18313022). Gene function is unknown. PMID 21391237 described two patients with TMEM43 heterozygous missense mutations in Emery Dreifuss Muscular Dystrophy Related Myophathy. No familial follow-up was available. Functional studies suggest that mutant TMEM43 may be involved in the nuclear localization of emrin and SUN2.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)