TMEM218
entrez
219854
canonical
uniprot
A2RU14
canonical
ensembl
ENSG00000150433
resolver
ensp
ENSP00000279968
resolver
ensp
ENSP00000433374
resolver
ensp
ENSP00000434597
resolver
ensp
ENSP00000435526
resolver
ensp
ENSP00000436162
resolver
ensp
ENSP00000436177
resolver
ensp
ENSP00000436578
resolver
ensp
ENSP00000436596
resolver
ensp
ENSP00000506979
resolver
ensp
ENSP00000522001
resolver
ensp
ENSP00000522002
resolver
ensp
ENSP00000522003
resolver
ensp
ENSP00000522004
resolver
ensp
ENSP00000522005
resolver
ensp
ENSP00000522006
resolver
ensp
ENSP00000522007
resolver
ensp
ENSP00000522008
resolver
ensp
ENSP00000522009
resolver
ensp
ENSP00000522010
resolver
ensp
ENSP00000522011
resolver
ensp
ENSP00000522012
resolver
ensp
ENSP00000522013
resolver
ensp
ENSP00000522014
resolver
ensp
ENSP00000522015
resolver
ensp
ENSP00000522016
resolver
ensp
ENSP00000522017
resolver
ensp
ENSP00000522018
resolver
ensp
ENSP00000522019
resolver
ensp
ENSP00000522020
resolver
ensp
ENSP00000522021
resolver
ensp
ENSP00000522022
resolver
ensp
ENSP00000522023
resolver
ensp
ENSP00000522024
resolver
ensp
ENSP00000522025
resolver
ensp
ENSP00000522026
resolver
ensp
ENSP00000522027
resolver
ensp
ENSP00000522028
resolver
ensp
ENSP00000601047
resolver
ensp
ENSP00000601048
resolver
ensp
ENSP00000601049
resolver
ensp
ENSP00000601050
resolver
ensp
ENSP00000601051
resolver
ensp
ENSP00000601052
resolver
ensp
ENSP00000601053
resolver
ensp
ENSP00000601054
resolver
ensp
ENSP00000601055
resolver
ensp
ENSP00000601056
resolver
ensp
ENSP00000601057
resolver
ensp
ENSP00000601058
resolver
ensp
ENSP00000601059
resolver
ensp
ENSP00000601060
resolver
ensp
ENSP00000601061
resolver
ensp
ENSP00000601062
resolver
ensp
ENSP00000601063
resolver
ensp
ENSP00000611521
resolver
ensp
ENSP00000611522
resolver
ensp
ENSP00000611523
resolver
enst
ENST00000279968
resolver
enst
ENST00000526175
resolver
enst
ENST00000527271
resolver
enst
ENST00000527766
resolver
enst
ENST00000528724
resolver
enst
ENST00000529583
resolver
enst
ENST00000531909
resolver
enst
ENST00000532407
resolver
enst
ENST00000682305
resolver
enst
ENST00000851942
resolver
enst
ENST00000851943
resolver
enst
ENST00000851944
resolver
enst
ENST00000851945
resolver
enst
ENST00000851946
resolver
enst
ENST00000851947
resolver
enst
ENST00000851948
resolver
enst
ENST00000851949
resolver
enst
ENST00000851950
resolver
enst
ENST00000851951
resolver
enst
ENST00000851952
resolver
enst
ENST00000851953
resolver
enst
ENST00000851954
resolver
enst
ENST00000851955
resolver
enst
ENST00000851956
resolver
enst
ENST00000851957
resolver
enst
ENST00000851958
resolver
enst
ENST00000851959
resolver
enst
ENST00000851960
resolver
enst
ENST00000851961
resolver
enst
ENST00000851962
resolver
enst
ENST00000851963
resolver
enst
ENST00000851964
resolver
enst
ENST00000851965
resolver
enst
ENST00000851966
resolver
enst
ENST00000851967
resolver
enst
ENST00000851968
resolver
enst
ENST00000851969
resolver
enst
ENST00000930988
resolver
enst
ENST00000930989
resolver
enst
ENST00000930990
resolver
enst
ENST00000930991
resolver
enst
ENST00000930992
resolver
enst
ENST00000930993
resolver
enst
ENST00000930994
resolver
enst
ENST00000930995
resolver
enst
ENST00000930996
resolver
enst
ENST00000930997
resolver
enst
ENST00000930998
resolver
enst
ENST00000930999
resolver
enst
ENST00000931000
resolver
enst
ENST00000931001
resolver
enst
ENST00000931002
resolver
enst
ENST00000931003
resolver
enst
ENST00000931004
resolver
enst
ENST00000941462
resolver
enst
ENST00000941463
resolver
enst
ENST00000941464
resolver
genesymbol
TMEM218
resolver
hgnc
HGNC:27344
resolver
uniprot
B7ZM48
resolver
uniprot
E9PI23
resolver
uniprot_entry
E9PI23_HUMAN
resolver
uniprot_entry
TM218_HUMAN
resolver
uniprot_sec
B7ZM48
resolver
amino_acid_sequence
MAGTVLGVGAGVFILALLWVAVLLLCVLLSRASGAARFSVIFLFFGAVIITSVLLLFPRAGEFPAPEVEVKIVDDFFIGRYVLLAFLSAIFLGGLFLVLIHYVLEPIYAKPLHSY
uniprot
proteins
disease_involvement
DISEASE: Note=TMEM218 mutations result in ciliary dysfunction leading to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. {ECO:0000269|PubMed:33791682, ECO:0000269|PubMed:35137054}.; DISEASE: Joubert syndrome 39 (JBTS39) [MIM:619562]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS39 inheritance is autosomal recessive. {ECO:0000269|PubMed:33791682, ECO:0000269|PubMed:35137054}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in ciliary biogenesis or function. {ECO:0000250|UniProtKB:Q9CQ44}.
uniprot
proteins
mass_dalton
12459
uniprot
proteins
protein_family
TMEM218 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
33791682
uniprot
proteins
pubmed
35137054
uniprot
proteins
sequence_length
115
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9CQ44}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250|UniProtKB:Q9CQ44}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..25; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 38..58; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 81..101; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins