TMEM107 - transmembrane protein 107 Gene

Also Known as MKS13; JBTS29; GRVS638; PRO1268

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84314

About TMEM107

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,172,457-8,176,380 (from NCBI)

This gene has 9 transcripts (splice variants), 178 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 5.2) and 25 other tissues.

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 cilia, altered cilia length, and impaired sonic Hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]

TMEM107 Products (5)

mRNA	Protein	Name
NM_001351278.2	NP_001338207.1	transmembrane protein 107 isoform 3
NM_001351279.2	NP_001338208.1	transmembrane protein 107 isoform 4
NM_001351280.2	NP_001338209.1	transmembrane protein 107 isoform 5
NM_032354.5	NP_115730.2	transmembrane protein 107 isoform 1
NM_183065.4	NP_898888.1	transmembrane protein 107 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26595381	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IDA IDA: Inferred from direct assay	26518474	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	26595381	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MKS complex	IDA IDA: Inferred from direct assay	26595381	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	26595381	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM107 Protein Structure

TMEM107

0
100
140 a.a.

Protein Preferred Names	Protein Names
transmembrane protein 107

TMEM107 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TMEM107	Q6UX40	PGRMC2	Homo sapiens	O15173	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	PGRMC2	Homo sapiens	O15173	Y2H Array	32296183
Intra	TMEM107	Q6UX40	VMA21	Homo sapiens	Q3ZAQ7	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	VMA21	Homo sapiens	Q3ZAQ7	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM237	Homo sapiens	Q96Q45-2	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	CLSTN3	Homo sapiens	Q9BQT9	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	CLSTN3	Homo sapiens	Q9BQT9	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	CLSTN3	Homo sapiens	Q9BQT9	Y2H Array	32296183
Intra	TMEM107	Q6UX40	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	TMEM107	Q6UX40	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	GPX8	Homo sapiens	Q8TED1	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM80	Homo sapiens	Q96HE8	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM80	Homo sapiens	Q96HE8	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM80	Homo sapiens	Q96HE8	Y2H Array	32296183
Intra	TMEM107	Q6UX40	KCNJ6	Homo sapiens	P48051	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	KCNJ6	Homo sapiens	P48051	Y2H Array	32296183
Intra	TMEM107	Q6UX40	MS4A3	Homo sapiens	Q96HJ5	Y2H Array	32296183
Intra	TMEM107	Q6UX40	MS4A3	Homo sapiens	Q96HJ5	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	MS4A3	Homo sapiens	Q96HJ5	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	SLC39A2	Homo sapiens	Q9NP94	Y2H Array	32296183
Intra	TMEM107	Q6UX40	SLC39A2	Homo sapiens	Q9NP94	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	SLC39A2	Homo sapiens	Q9NP94	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	TMEM107	Q6UX40	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Array	32296183
Intra	TMEM107	Q6UX40	SLC35C2	Homo sapiens	Q9NQQ7-3	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	TMEM107	Q6UX40	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	PIGP	Homo sapiens	P57054	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	PIGP	Homo sapiens	P57054	Y2H Array	32296183
Intra	TMEM107	Q6UX40	EVI2B	Homo sapiens	P34910-2	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	EVI2B	Homo sapiens	P34910-2	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM167B	Homo sapiens	Q9NRX6	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM167B	Homo sapiens	Q9NRX6	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM167B	Homo sapiens	Q9NRX6	Y2H Array	32296183
Intra	TMEM107	Q6UX40	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM52B	Homo sapiens	Q4KMG9	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM52B	Homo sapiens	Q4KMG9	Y2H Array	32296183
Intra	TMEM107	Q6UX40	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	TMEM107	Q6UX40	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	FAM210B	Homo sapiens	Q96KR6	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	FAM210B	Homo sapiens	Q96KR6	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	FAM210B	Homo sapiens	Q96KR6	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM86B	Homo sapiens	Q8N661	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM86B	Homo sapiens	Q8N661	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM86B	Homo sapiens	Q8N661	Y2H Array	32296183
Intra	TMEM107	Q6UX40	AQP3	Homo sapiens	Q92482	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	AQP3	Homo sapiens	Q92482	Y2H Array	32296183
Intra	TMEM107	Q6UX40	AQP3	Homo sapiens	Q92482	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	LHFPL5	Homo sapiens	Q8TAF8	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	LHFPL5	Homo sapiens	Q8TAF8	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	LHFPL5	Homo sapiens	Q8TAF8	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM106A	Homo sapiens	Q96A25	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM106A	Homo sapiens	Q96A25	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM106A	Homo sapiens	Q96A25	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SAR1A	Homo sapiens	Q9NR31	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SAR1A	Homo sapiens	Q9NR31	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	SAR1A	Homo sapiens	Q9NR31	Y2H Array	32296183
Intra	TMEM107	Q6UX40	CD40	Homo sapiens	P25942	Y2H Array	32296183
Intra	TMEM107	Q6UX40	CD40	Homo sapiens	P25942	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	KCNA5	Homo sapiens	P22460	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	KCNA5	Homo sapiens	P22460	Y2H Array	32296183
Intra	TMEM107	Q6UX40	BIK	Homo sapiens	Q13323	Y2H Array	32296183
Intra	TMEM107	Q6UX40	BIK	Homo sapiens	Q13323	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	PDZK1IP1	Homo sapiens	Q13113	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	PDZK1IP1	Homo sapiens	Q13113	Y2H Array	32296183
Intra	TMEM107	Q6UX40	MKS1	Homo sapiens	Q9NXB0	Anti Bait CoIP	26595381
Intra	TMEM107	Q6UX40	MKS1	Homo sapiens	Q9NXB0	Anti Tag CoIP	26595381
Intra	TMEM107	Q6UX40	TMEM139	Homo sapiens	Q8IV31	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM139	Homo sapiens	Q8IV31	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM139	Homo sapiens	Q8IV31	Y2H Array	32296183
Intra	TMEM107	Q6UX40	MGST3	Homo sapiens	O14880	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	MGST3	Homo sapiens	O14880	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM51	Homo sapiens	Q9NW97	Y2H Array	32296183
Intra	TMEM107	Q6UX40	TMEM51	Homo sapiens	Q9NW97	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM51	Homo sapiens	Q9NW97	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	THAP4	Homo sapiens	Q8WY91	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	THAP4	Homo sapiens	Q8WY91	Y2H Array	32296183
Intra	TMEM107	Q6UX40	THAP4	Homo sapiens	Q8WY91	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	GJA5	Homo sapiens	P36382	Y2H Array	32296183
Intra	TMEM107	Q6UX40	GJA5	Homo sapiens	P36382	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	TMEM107	Q6UX40	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	TMEM107	Q6UX40	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SYT2	Homo sapiens	Q8N9I0	Y2H Array	32296183
Intra	TMEM107	Q6UX40	SYT2	Homo sapiens	Q8N9I0	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SYT2	Homo sapiens	Q8N9I0	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM234	Homo sapiens	Q8WY98	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	TMEM234	Homo sapiens	Q8WY98	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	TMEM234	Homo sapiens	Q8WY98	Y2H Array	32296183
Intra	TMEM107	Q6UX40	SLC30A2	Homo sapiens	Q9BRI3	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	SLC30A2	Homo sapiens	Q9BRI3	Validated Y2H	32296183
Intra	TMEM107	Q6UX40	SLC30A2	Homo sapiens	Q9BRI3	Y2H Array	32296183
Intra	TMEM107	Q6UX40	EBAG9	Homo sapiens	O00559	Y2H Prey Pooling	32296183
Intra	TMEM107	Q6UX40	EBAG9	Homo sapiens	O00559	Y2H Array	32296183
Intra	TMEM107	Q6UX40	CCL21	Homo sapiens	O00585	Y2H Array	32296183
Intra	TMEM107	Q6UX40	CCL21	Homo sapiens	O00585	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Orofaciodigital Syndrome Xvi	Orofaciodigital Syndrome 16 OFD16 Ofds Xvi Oral-Facial-Digital Syndrome, Type Xvi
Meckel Syndrome 13	Joubert Syndrome 29 MKS13 JBTS29
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Leukoencephalopathy, Brain Calcifications, And Cysts	Leukoencephalopathy With Calcifications And Cysts LCC Labrune Syndrome
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Meckel Syndrome, Type 3	MKS3 Meckel Syndrome 3 Meckel-Gruber Syndrome, Type 3 Meckel Syndrome Type 3
Joubert Syndrome 14	JBTS14 Joubert Syndrome, Type 14
Joubert Syndrome 20	JBTS20 Joubert Syndrome, Type 20
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome CDP-PBHM Chondrodysplasia, With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14648	TMEM107 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMEM107	MGD	MGI:1914160
Macaca mulatta	TMEM107	VGNC	VGNC:104668
Rattus norvegicus	TMEM107	RGD	RGD:1595972
Canis familiaris	TMEM107	VGNC	VGNC:47448
Bos taurus	TMEM107	VGNC	VGNC:35947
Others	TMEM107	NCBI