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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84314
Gene name	Transmembrane protein 107
Gene symbol	TMEM107
Synonyms (NCBI Gene)	GRVS638JBTS29MKS13PRO1268
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of

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Show/Hide all (208)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051417	hsa-let-7e-5p	CLASH	23622248
MIRT039501	hsa-miR-652-3p	CLASH	23622248
MIRT437537	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT652522	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT652521	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT652520	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT652519	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT652518	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT652522	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT652521	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT652520	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT652519	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT652518	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1429758	hsa-miR-103b	CLIP-seq
MIRT1429759	hsa-miR-1185	CLIP-seq
MIRT1429760	hsa-miR-1200	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429762	hsa-miR-1224-3p	CLIP-seq
MIRT1429763	hsa-miR-1245	CLIP-seq
MIRT1429764	hsa-miR-1253	CLIP-seq
MIRT1429765	hsa-miR-1260	CLIP-seq
MIRT1429766	hsa-miR-1260b	CLIP-seq
MIRT1429767	hsa-miR-1276	CLIP-seq
MIRT1429768	hsa-miR-1280	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429771	hsa-miR-154	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429774	hsa-miR-19a	CLIP-seq
MIRT1429775	hsa-miR-19b	CLIP-seq
MIRT1429776	hsa-miR-3074-5p	CLIP-seq
MIRT1429777	hsa-miR-3120-3p	CLIP-seq
MIRT1429778	hsa-miR-3121-3p	CLIP-seq
MIRT1429779	hsa-miR-3145-3p	CLIP-seq
MIRT1429780	hsa-miR-3158-5p	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429784	hsa-miR-3605-5p	CLIP-seq
MIRT1429785	hsa-miR-3613-3p	CLIP-seq
MIRT1429786	hsa-miR-3616-3p	CLIP-seq
MIRT1429787	hsa-miR-3622a-3p	CLIP-seq
MIRT1429788	hsa-miR-3622b-3p	CLIP-seq
MIRT1429789	hsa-miR-3679-5p	CLIP-seq
MIRT1429790	hsa-miR-376a	CLIP-seq
MIRT1429791	hsa-miR-376b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429794	hsa-miR-3942-5p	CLIP-seq
MIRT1429795	hsa-miR-4251	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429797	hsa-miR-4324	CLIP-seq
MIRT1429798	hsa-miR-4418	CLIP-seq
MIRT1429799	hsa-miR-451b	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429801	hsa-miR-4696	CLIP-seq
MIRT1429802	hsa-miR-4699-3p	CLIP-seq
MIRT1429803	hsa-miR-4703-5p	CLIP-seq
MIRT1429804	hsa-miR-4721	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429806	hsa-miR-4766-3p	CLIP-seq
MIRT1429807	hsa-miR-495	CLIP-seq
MIRT1429808	hsa-miR-509-3-5p	CLIP-seq
MIRT1429809	hsa-miR-509-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429811	hsa-miR-544b	CLIP-seq
MIRT1429812	hsa-miR-561	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429771	hsa-miR-154	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429762	hsa-miR-1224-3p	CLIP-seq
MIRT1429765	hsa-miR-1260	CLIP-seq
MIRT1429766	hsa-miR-1260b	CLIP-seq
MIRT1429768	hsa-miR-1280	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429787	hsa-miR-3622a-3p	CLIP-seq
MIRT1429788	hsa-miR-3622b-3p	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429762	hsa-miR-1224-3p	CLIP-seq
MIRT1429763	hsa-miR-1245	CLIP-seq
MIRT1429765	hsa-miR-1260	CLIP-seq
MIRT1429766	hsa-miR-1260b	CLIP-seq
MIRT1429768	hsa-miR-1280	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429787	hsa-miR-3622a-3p	CLIP-seq
MIRT1429788	hsa-miR-3622b-3p	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429761	hsa-miR-1203	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429770	hsa-miR-1470	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429773	hsa-miR-1913	CLIP-seq
MIRT1429781	hsa-miR-3159	CLIP-seq
MIRT1429782	hsa-miR-324-3p	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429793	hsa-miR-3928	CLIP-seq
MIRT1429796	hsa-miR-4290	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429805	hsa-miR-4733-5p	CLIP-seq
MIRT1429810	hsa-miR-515-5p	CLIP-seq
MIRT1429813	hsa-miR-576-5p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq
MIRT1429815	hsa-miR-765	CLIP-seq
MIRT1429769	hsa-miR-1324	CLIP-seq
MIRT1429772	hsa-miR-186	CLIP-seq
MIRT1429783	hsa-miR-34b	CLIP-seq
MIRT1429792	hsa-miR-3920	CLIP-seq
MIRT1429800	hsa-miR-4684-3p	CLIP-seq
MIRT1429814	hsa-miR-609	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003127	Process	Detection of nodal flow	IEA
GO:0005515	Function	Protein binding	IPI	26595381, 32296183
GO:0005929	Component	Cilium	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0021532	Process	Neural tube patterning	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IDA	26595381
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036038	Component	MKS complex	IBA
GO:0036038	Component	MKS complex	IDA	26595381
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060271	Process	Cilium assembly	IDA	26518474
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0097094	Process	Craniofacial suture morphogenesis	IEA
GO:1904491	Process	Protein localization to ciliary transition zone	IBA
GO:1904491	Process	Protein localization to ciliary transition zone	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	26595381

MIM	HGNC	e!Ensembl
616183	28128	ENSG00000179029

Q6UX40

Protein name

Transmembrane protein 107

Protein function

Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14995	TMEM107	7 → 129	Transmembrane protein	Family

Sequence

MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPEEYDKQDIQLVAALSVT
LGLFAVELAGFLSGVSMFNSTQSLISIGAHCSASVALSFFIFERWECTTYWYIFVFCSAL
PAVTEMALFVTVFGLKKKPF

Sequence length

140

Interactions

View interactions

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Joubert syndrome 29	Pathogenic	rs752171066	RCV000495826
Leukoencephalopathy with calcifications and cysts	Pathogenic	rs1555526172	RCV004767304
Meckel syndrome 13	Pathogenic	rs1131692180, rs1555525895	RCV000495829 RCV000495830
Orofaciodigital syndrome	Pathogenic	rs752171066	RCV000236136
Orofaciodigital syndrome 16	Pathogenic	rs752171066, rs1555526172	RCV000495831 RCV000495828

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Melanoma	Uncertain significance	rs770976637	RCV005925580
TMEM107-related disorder	Benign; Likely benign; Uncertain significance	rs72479723, rs11655582, rs749197969, rs369840510, rs117057308, rs201373697, rs1984088280, rs372572848, rs115989975, rs757824735, rs377665716, rs138702340, rs200948445, rs145864249, rs74895707	RCV003948650 RCV003921328 RCV003911065 RCV003958817 RCV003412156 RCV003897092 RCV003929651 RCV003893996 RCV003894121 RCV003901635 RCV003901810 RCV003892257 RCV003897155 RCV003897163 RCV003983547 RCV003940847

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Inhibit	33124203
Ciliopathies	Associate	38158857
Lymphatic Metastasis	Associate	33124203

TMEM107 (transmembrane protein 107)