TMEM107 - transmembrane protein 107 Gene

Homo sapiens

Also known as MKS13; JBTS29; GRVS638; PRO1268

Gene ID: 84314 | Gene type: protein coding

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

TMEM107 Protein Structure

TMEM107

0
100
140 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 107

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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.