TTC8 - tetratricopeptide repeat domain 8 Gene

Also Known as BBS8; RP51

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 123016

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	22302990	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14520415	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of anatomical structure orientation	IMP IMP: Inferred from mutant phenotype	14520415	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BBSome	IDA IDA: Inferred from direct assay	17574030	GOA
part of BBSome	IPI IPI: Inferred from physical interaction	19081074	GOA
located in centrosome	IDA IDA: Inferred from direct assay	14520415	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	14520415	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	19081074	GOA
located in cilium	IDA IDA: Inferred from direct assay	14520415	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

TTC8 Protein Structure

TPR_15

TPR_1

TPR_11

0
100
200
300
400
515 a.a.

Protein Preferred Names	Protein Names
tetratricopeptide repeat protein 8	Bardet-Biedl syndrome type 8

TTC8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TTC8	Q8TAM2	IQCB1	Homo sapiens	Q15051	IF	25552655
Intra	TTC8	Q8TAM2	IQCB1	Homo sapiens	Q15051	Anti Tag CoIP	25552655

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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-RS15220	TTC8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TTC8	NCBI