TTC8 - tetratricopeptide repeat domain 8 Gene

中文名称：四肽重复结构域 8

种属: Homo sapiens

同用名: BBS8; RP51

基因 ID: 123016 | 基因类型: protein coding

关于 TTC8

Cytogenetic location: 14q31.3 Genomic coordinates (GRCh38): 14:88,824,153-88,881,079 (from NCBI)

This gene has 13 transcripts (splice variants), 214 orthologues, 14 paralogues and is associated with 7 phenotypes. Broad expression in ovary (RPKM 24.2), adrenal (RPKM 16.1) and 24 other tissues.

功能概要

该基因编码的蛋白质与 Bardet-Biedl 综合征直接相关。该综合征的主要特征包括视网膜营养不良、肥胖、多指畸形、肾脏异常和学习障碍。在非人类真核生物中进行的实验表明，该基因在纤毛细胞中表达，并且参与纤毛的形成。该基因的突变也与非综合征性色素性视网膜炎有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 1 月]

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

TTC8 基因产物(8)

mRNA	Protein	Name
NM_001288781.1	NP_001275710.1	tetratricopeptide repeat protein 8 isoform D
NM_001288782.1	NP_001275711.1	tetratricopeptide repeat protein 8 isoform E
NM_001288783.1	NP_001275712.1	tetratricopeptide repeat protein 8 isoform F
NM_001366535.2	NP_001353464.1	tetratricopeptide repeat protein 8 isoform G
NM_001366536.2	NP_001353465.1	tetratricopeptide repeat protein 8 isoform H
NM_144596.4	NP_653197.2	tetratricopeptide repeat protein 8 isoform A
NM_198309.3	NP_938051.1	tetratricopeptide repeat protein 8 isoform B
NM_198310.3	NP_938052.1	tetratricopeptide repeat protein 8 isoform C

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 RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	22302990	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	14520415	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in establishment of anatomical structure orientation	IMP IMP: 通过突变表型推断	14520415	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of BBSome	IDA IDA: 通过直接分析推断	17574030	GOA
part of BBSome	IPI IPI: 通过物理相互作用推断	19081074	GOA
located in centrosome	IDA IDA: 通过直接分析推断	14520415	GOA
located in ciliary basal body	IDA IDA: 通过直接分析推断	14520415	GOA
located in ciliary membrane	IDA IDA: 通过直接分析推断	19081074	GOA
located in cilium	IDA IDA: 通过直接分析推断	14520415	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

TTC8 蛋白结构

TPR_15

TPR_1

TPR_11

0
100
200
300
400
515 a.a.

蛋白主名

其他名称

tetratricopeptide repeat protein 8

Bardet-Biedl syndrome type 8

TTC8 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
种属内	TTC8	Q8TAM2	IQCB1	Homo sapiens	Q15051	IF	25552655
种属内	TTC8	Q8TAM2	IQCB1	Homo sapiens	Q15051	Anti Tag CoIP	25552655

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

Retinitis Pigmentosa 51

RP51	Retinitis Pigmentosa, Type 51

Bardet-Biedl Syndrome 8

BBS8	Bardet-Biedl Syndrome, Type 8

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Nonsyndromic Retinitis Pigmentosa

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Laurence-Moon Syndrome

LNMS	Laurence-Moon-Biedl Syndrome

Bardet-Biedl Syndrome 11

BBS11	Bardet-Biedl Syndrome
Bbs	Bardet-Biedl Syndrome, Type 11

Pigmented Paravenous Chorioretinal Atrophy

Pigmented Paravenous Retinochoroidal Atrophy	PPCRA
Pprca	Atrophy, Chorioretinal, Pigmented Paravenous

Retinitis Pigmentosa 74

RP74	Retinitis Pigmentosa, Type 74

Bardet-Biedl Syndrome 18

BBS18

Bardet-Biedl Syndrome, Type 18

Retinitis Pigmentosa 42

RP42	Retinitis Pigmentosa-42
Retinitis Pigmentosa, Type 42

Mckusick-Kaufman Syndrome

MKKS	Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
Hmcs	Kaufman-Mckusick Syndrome
Hydrometrocolpos Syndrome	Hydrometrocolpos-Postaxial Polydactyly Syndrome
Kaufman Mckusick Syndrome	Mckusick Kaufman Syndrome
Mks

Retinitis Pigmentosa 54

RP54	Retinitis Pigmentosa, Type 54

Bardet-Biedl Syndrome 19

BBS19

Bardet-Biedl Syndrome, Type 19

Nephronophthisis 4

NPHP4	Juvenile Nephronophthisis 4
Nephronophthisis 4, Juvenile	Nephronophthisis, Type 4

Bardet-Biedl Syndrome 4

BBS4	Bardet-Biedl Syndrome, Type 4

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

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

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15220	TTC8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	TTC8	VGNC	VGNC:66677
Bos taurus	TTC8	VGNC	VGNC:55152
Rattus norvegicus	TTC8	RGD	RGD:1307769
Mus musculus	TTC8	MGD	MGI:1923510
Macaca mulatta	TTC8	VGNC	VGNC:79234
Canis familiaris	TTC8	VGNC	VGNC:47963

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4