Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51259
Gene name Gene Name - the full gene name approved by the HGNC.	Transmembrane protein 216
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TMEM216
Synonyms (NCBI Gene) Gene synonyms aliases	HSPC244, RP98
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11230683	C>A,G,T	Benign-likely-benign, benign, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, stop gained, synonymous variant, coding sequence variant
rs57932685	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147267631	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs201108965	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs386833830	G>C,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs386833831	T>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs541666319	T>C	Benign, likely-pathogenic	Coding sequence variant, synonymous variant
rs569734777	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs749351351	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755459875	T>G	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs767384710	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779526456	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs900061092	A>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs1057517498	T>C,G	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1057517512	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517528	A>G	Likely-pathogenic	Splice acceptor variant
rs1057520085	GCTCCTTTTTCAGGT>-	Likely-pathogenic	Intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1554972547	G>A	Likely-pathogenic	Splice acceptor variant
rs1554972556	ACCTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554972958	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(123)

miRTarBase ID	miRNA	Experiments	Reference
MIRT698241	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT698240	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT698239	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT698238	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT698236	hsa-miR-3929	HITS-CLIP	23313552
MIRT698237	hsa-miR-4419b	HITS-CLIP	23313552
MIRT698235	hsa-miR-4478	HITS-CLIP	23313552
MIRT698234	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT698233	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT698232	hsa-miR-4459	HITS-CLIP	23313552
MIRT698231	hsa-miR-665	HITS-CLIP	23313552
MIRT698230	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT698229	hsa-miR-1827	HITS-CLIP	23313552
MIRT698228	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT698227	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT698226	hsa-miR-298	HITS-CLIP	23313552
MIRT698225	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT698224	hsa-miR-1273e	HITS-CLIP	23313552
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT647159	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT647158	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT647157	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT647156	hsa-miR-4518	HITS-CLIP	23824327
MIRT647155	hsa-miR-3185	HITS-CLIP	23824327
MIRT698241	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT698240	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT698239	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT698238	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT698236	hsa-miR-3929	HITS-CLIP	23313552
MIRT698237	hsa-miR-4419b	HITS-CLIP	23313552
MIRT698235	hsa-miR-4478	HITS-CLIP	23313552
MIRT698234	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT698233	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT698232	hsa-miR-4459	HITS-CLIP	23313552
MIRT698231	hsa-miR-665	HITS-CLIP	23313552
MIRT698230	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT698229	hsa-miR-1827	HITS-CLIP	23313552
MIRT698228	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT698227	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT698226	hsa-miR-298	HITS-CLIP	23313552
MIRT698225	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT698224	hsa-miR-1273e	HITS-CLIP	23313552
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663677	hsa-miR-4717-5p	HITS-CLIP	23824327
MIRT663676	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT663675	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT663674	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT663673	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663672	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663671	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT663670	hsa-miR-564	HITS-CLIP	23824327
MIRT663669	hsa-miR-4284	HITS-CLIP	23824327
MIRT663668	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT663667	hsa-miR-5704	HITS-CLIP	23824327
MIRT663666	hsa-miR-7977	HITS-CLIP	23824327
MIRT663665	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT647159	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT647158	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT647157	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT647156	hsa-miR-4518	HITS-CLIP	23824327
MIRT647155	hsa-miR-3185	HITS-CLIP	23824327
MIRT1435473	hsa-miR-146a	CLIP-seq
MIRT1435474	hsa-miR-146b-5p	CLIP-seq
MIRT1435475	hsa-miR-1909	CLIP-seq
MIRT1435476	hsa-miR-214	CLIP-seq
MIRT1435477	hsa-miR-3150b-3p	CLIP-seq
MIRT1435478	hsa-miR-3170	CLIP-seq
MIRT1435479	hsa-miR-3190	CLIP-seq
MIRT1435480	hsa-miR-3199	CLIP-seq
MIRT1435481	hsa-miR-342-5p	CLIP-seq
MIRT1435482	hsa-miR-3619-5p	CLIP-seq
MIRT1435483	hsa-miR-382	CLIP-seq
MIRT1435484	hsa-miR-4264	CLIP-seq
MIRT1435485	hsa-miR-4291	CLIP-seq
MIRT1435486	hsa-miR-4515	CLIP-seq
MIRT1435487	hsa-miR-4651	CLIP-seq
MIRT1435488	hsa-miR-4652-5p	CLIP-seq
MIRT1435489	hsa-miR-4664-5p	CLIP-seq
MIRT1435490	hsa-miR-4752	CLIP-seq
MIRT1435491	hsa-miR-4784	CLIP-seq
MIRT1435492	hsa-miR-608	CLIP-seq
MIRT1435493	hsa-miR-622	CLIP-seq
MIRT1435494	hsa-miR-761	CLIP-seq
MIRT1435495	hsa-miR-922	CLIP-seq
MIRT2645531	hsa-miR-4772-3p	CLIP-seq
MIRT2645531	hsa-miR-4772-3p	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26595381
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	22282472
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	22282472
GO:1905515	Process	Non-motile cilium assembly	IBA

MIM	HGNC	e!Ensembl
613277	25018	ENSG00000187049

Protein

UniProt ID

Q9P0N5

Protein name

Transmembrane protein 216

Protein function

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09799	Transmemb_17	22 → 128	Predicted membrane protein	Family

Sequence

MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDV
VMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIM
NGILLFFCGSELLLEVLTLAAFSRI

Sequence length

145

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar vermis agenesis	familial aplasia of the vermis	rs201108965, rs1057520085, rs1554972547, rs1057517528, rs1565088283, rs11230683, rs755459875, rs767384710, rs1057517498	N/A
Joubert Syndrome	joubert syndrome 2	rs1057520085, rs1057517528, rs1565088283, rs1057517512, rs11230683, rs767384710, rs201108965, rs755459875, rs1057517498	N/A
Meckel Syndrome	meckel syndrome, type 2	rs386833831, rs1057517528, rs386833830, rs11230683, rs1057517512, rs767384710, rs201108965, rs1057517498	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Joubert Syndrome With Oculorenal Defect	Joubert syndrome with oculorenal defect	N/A	N/A	GenCC
Meckel-Gruber Syndrome	meckel-gruber syndrome	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Orofaciodigital Syndrome	orofaciodigital syndrome type 6	N/A	N/A	GenCC
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	36788019
Ciliopathies	Associate	21068128, 39191256
Joubert syndrome 2	Associate	20036350
Meckel syndrome type 1	Associate	21493627
Nerve Degeneration	Associate	39191256
Retinitis Pigmentosa	Associate	39191256
RHYNS syndrome	Associate	39191256

TMEM216 (transmembrane protein 216)