1. Gene
  2. TMEM107 - transmembrane protein 107 Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
26595381 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

TMEM107: Transmembrane protein (7 - 130)

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

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