TMEM43
entrez
79188
canonical
uniprot
Q9BTV4
canonical
ensembl
ENSG00000170876
resolver
ensp
ENSP00000303992
resolver
ensp
ENSP00000525595
resolver
ensp
ENSP00000596469
resolver
ensp
ENSP00000596470
resolver
ensp
ENSP00000619185
resolver
ensp
ENSP00000619186
resolver
enst
ENST00000306077
resolver
genesymbol
TMEM43
resolver
hgnc
HGNC:28472
resolver
uniprot
A0A024R2F9
resolver
uniprot
A0A0S2Z5Q4
resolver
uniprot
Q7L4N5
resolver
uniprot
Q8NC30
resolver
uniprot
Q96A63
resolver
uniprot
Q96F19
resolver
uniprot
Q96JX0
resolver
uniprot
Q9H076
resolver
uniprot_entry
A0A024R2F9_HUMAN
resolver
uniprot_entry
TMM43_HUMAN
resolver
uniprot_sec
A0A0S2Z5Q4
resolver
uniprot_sec
Q7L4N5
resolver
uniprot_sec
Q8NC30
resolver
uniprot_sec
Q96A63
resolver
uniprot_sec
Q96F19
resolver
uniprot_sec
Q96JX0
resolver
uniprot_sec
Q9H076
resolver
amino_acid_sequence
MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE
uniprot
proteins
disease_involvement
DISEASE: Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269|PubMed:18313022}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:21391237}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Auditory neuropathy, autosomal dominant 3 (AUNA3) [MIM:619832]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA3 is a late-onset, progressive form. {ECO:0000269|PubMed:34050020}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020). {ECO:0000250|UniProtKB:Q9DBS1, ECO:0000269|PubMed:27991920, ECO:0000269|PubMed:32614325, ECO:0000269|PubMed:34050020}.
uniprot
proteins
mass_dalton
44876
uniprot
proteins
protein_family
TMEM43 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18230648
uniprot
proteins
pubmed
18313022
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21391237
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25732826
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27991920
uniprot
proteins
pubmed
32614325
uniprot
proteins
pubmed
34050020
uniprot
proteins
sequence_length
400
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:32614325}. Nucleus inner membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:34050020}. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..52; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 314..334; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 346..366; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 369..389; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins