TMEM237
entrez
65062
canonical
uniprot
Q96Q45
canonical
ensembl
ENSG00000155755
resolver
ensp
ENSP00000386264
resolver
ensp
ENSP00000387203
resolver
genesymbol
TMEM237
resolver
genesymbol_syn
ALS2CR4
resolver
hgnc
HGNC:14432
resolver
uniprot
B4E1R8
resolver
uniprot
B4E2R8
resolver
uniprot
E9PAR8
resolver
uniprot
E9PBF8
resolver
uniprot
E9PG24
resolver
uniprot
E9PGX0
resolver
uniprot
Q53TS9
resolver
uniprot
Q53TT2
resolver
uniprot
Q7Z3B6
resolver
uniprot
Q8IZ18
resolver
uniprot
Q8NBF8
resolver
uniprot
Q96CY1
resolver
uniprot_entry
TM237_HUMAN
resolver
uniprot_sec
B4E1R8
resolver
uniprot_sec
B4E2R8
resolver
uniprot_sec
E9PAR8
resolver
uniprot_sec
E9PBF8
resolver
uniprot_sec
E9PG24
resolver
uniprot_sec
E9PGX0
resolver
uniprot_sec
Q53TS9
resolver
uniprot_sec
Q53TT2
resolver
uniprot_sec
Q7Z3B6
resolver
uniprot_sec
Q8IZ18
resolver
uniprot_sec
Q8NBF8
resolver
uniprot_sec
Q96CY1
resolver
amino_acid_sequence
MRTDSGARLEEGHLRPPRALPPVPSQDDIPLSRPKKKKPRTKNTPASASLEGLAQTAGRRPSEGNEPSTKELKEHPEAPVQRRQKKTRLPLELETSSTQKKSSSSSLLRNENGIDAEPAEEAVIQKPRRKTKKTQPAELQYANELGVEDEDIITDEQTTVEQQSVFTAPTGISQPVGKVFVEKSRRFQAADRSELIKTTENIDVSMDVKPSWTTRDVALTVHRAFRMIGLFSHGFLAGCAVWNIVVIYVLAGDQLSNLSNLLQQYKTLAYPFQSLLYLLLALSTISAFDRIDFAKISVAIRNFLALDPTALASFLYFTALILSLSQQMTSDRIHLYTPSSVNGSLWEAGIEEQILQPWIVVNLVVALLVGLSWLFLSYRPGMDLSEELMFSSEVEEYPDKEKEIKASS
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 14 (JBTS14) [MIM:614424]: An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly. {ECO:0000269|PubMed:22152675}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the transition zone in primary cilia. Required for ciliogenesis. {ECO:0000269|PubMed:22152675}.
uniprot
proteins
mass_dalton
45526
uniprot
proteins
protein_family
TMEM237 family
uniprot
proteins
pubmed
11586298
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22152675
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26595381
uniprot
proteins
sequence_length
408
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000269|PubMed:22152675}. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
uniprot
proteins
transmembrane_region
TRANSMEM 227..247; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 268..288; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 303..323; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 358..378; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins