TMEM216
entrez
51259
canonical
uniprot
Q9P0N5
canonical
ensembl
ENSG00000187049
resolver
ensp
ENSP00000334844
resolver
ensp
ENSP00000381950
resolver
ensp
ENSP00000440638
resolver
enst
ENST00000398979
resolver
genesymbol
TMEM216
resolver
hgnc
HGNC:25018
resolver
uniprot
A0A0U4CK44
resolver
uniprot
A8MZ23
resolver
uniprot
B7Z8N1
resolver
uniprot
J3QT25
resolver
uniprot_entry
A0A0U4CK44_HUMAN
resolver
uniprot_entry
J3QT25_HUMAN
resolver
uniprot_entry
TM216_HUMAN
resolver
uniprot_sec
A8MZ23
resolver
uniprot_sec
B7Z8N1
resolver
amino_acid_sequence
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 2 (JBTS2) [MIM:608091]: 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 and renal disease. {ECO:0000269|PubMed:20036350, ECO:0000269|PubMed:20512146, ECO:0000269|PubMed:22282472, ECO:0000269|PubMed:22425360}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Meckel syndrome 2 (MKS2) [MIM:603194]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:20512146}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 98 (RP98) [MIM:620996]: An autosomal recessive form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP98 is characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision. {ECO:0000269|PubMed:39191256}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for primary ciliogenesis and embryonic development, facilitating the activation of Hedgehog (Hh) signaling pathway. Disrupts the interaction of GLI2 and GLI3 with the negative regulator SUFU. Inhibiting SUFU's interaction with GLI2 promotes the entry of GLI2 into the nucleus, allowing it to activate Hh target gene expression. Disrupting SUFU's interaction with GLI3 prevents its conversion into the repressor form, leading to increased nuclear GLI3 and enhanced Hh signaling. Required for the proper development and structural integrity of photoreceptor outer segment disks, ensuring normal outer segment morphogenesis and survival of photoreceptors. {ECO:0000250|UniProtKB:E7EYQ9, ECO:0000250|UniProtKB:Q9CQC4}.
uniprot
proteins
mass_dalton
16487
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
20036350
uniprot
proteins
pubmed
20512146
uniprot
proteins
pubmed
22282472
uniprot
proteins
pubmed
22425360
uniprot
proteins
pubmed
26595381
uniprot
proteins
pubmed
39191256
uniprot
proteins
sequence_length
145
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22282472}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269|PubMed:22282472}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 89..109; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 122..142; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins