2. Gene
  3. TMEM107 - transmembrane protein 107 Gene

TMEM107 - transmembrane protein 107 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：跨膜蛋白 107

种属: Homo sapiens

同用名: MKS13; JBTS29; GRVS638; PRO1268

基因 ID: 84314 | 基因类型: protein coding

关于 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.

功能概要

该基因编码跨膜蛋白和初级纤毛过渡区的成分。编码的蛋白质调节纤毛发生和纤毛蛋白组成。表达该基因突变等位基因的人成纤维细胞表现出纤毛数量减少、纤毛长度改变和声波刺猬信号传导受损。在人类患者中，该基因的不同突变会导致不同的纤毛病，包括 Meckel-Gruber 综合征和口面指综合征。[RefSeq 提供，2017 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
26595381 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IDA
IDA: 通过直接分析推断
26518474 GOA
involved in non-motile cilium assembly IMP
IMP: 通过突变表型推断
26595381 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MKS complex IDA
IDA: 通过直接分析推断
26595381 GOA
located in ciliary transition zone IDA
IDA: 通过直接分析推断
26595381 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TMEM107 蛋白结构

TMEM107

TMEM107: Transmembrane protein (7 - 130)

  • 0
  • 100
  • 140 a.a.
蛋白主名 其他名称

transmembrane protein 107

TMEM107 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14648 TMEM107 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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