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TTC8 tetratricopeptide repeat domain 8 [ Homo sapiens (human) ]

Gene ID: 123016, updated on 3-Apr-2024

Summary

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Official Symbol
TTC8provided by HGNC
Official Full Name
tetratricopeptide repeat domain 8provided by HGNC
Primary source
HGNC:HGNC:20087
See related
Ensembl:ENSG00000165533 MIM:608132; AllianceGenome:HGNC:20087
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BBS8; RP51
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]
Expression
Broad expression in ovary (RPKM 24.2), adrenal (RPKM 16.1) and 24 other tissues See more
Orthologs
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Genomic context

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See TTC8 in Genome Data Viewer
Location:
14q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (88824153..88881079)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (83047758..83104682)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (89290497..89347423)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:89084698-89085319 Neighboring gene EMAP like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8843 Neighboring gene MPRA-validated peak2226 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8844 Neighboring gene RNA, U4 small nuclear 92, pseudogene Neighboring gene tRNA-Ala (anticodon AGC) 15-1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:89466718-89467917 Neighboring gene uncharacterized LOC124903356

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Riazuddin SA, et al. Am J Hum Genet, 2010 May 14. PMID 20451172, Free PMC Article
  2. Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. Ullah A, et al. Mol Vis, 2017. PMID 28761321, Free PMC Article
  3. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Bin J, et al. Hum Mutat, 2009 Jul. PMID 19402160
  4. Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. Barbelanne M, et al. Hum Mol Genet, 2015 Apr 15. PMID 25552655, Free PMC Article
  5. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Su X, et al. Hum Mol Genet, 2014 Oct 15. PMID 24939912, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
    Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
  2. Observational study of genetic testing. (HuGE Navigator)
    Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
  3. A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
    Title: A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
  4. small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
    Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
  7. A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium
    Title: Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686H0432

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
  
involved_in camera-type eye photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cilium assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in establishment of anatomical structure orientation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of epithelial cell apical/basal polarity IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of planar polarity IEA
Inferred from Electronic Annotation
more info
  
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
  
involved_in multi-ciliated epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
  
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in olfactory bulb development IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in renal tubule development IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of smell IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory processing TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of BBSome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of BBSome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of BBSome IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in centriolar satellite IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008126.2 RefSeqGene

    Range
    5499..58836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288781.1 → NP_001275710.1  tetratricopeptide repeat protein 8 isoform D

    See identical proteins and their annotated locations for NP_001275710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (D) is longer, compared to isoform A.
    Source sequence(s)
    BC026351, BU738965, BX247959
    Consensus CDS
    CCDS73674.1
    UniProtKB/Swiss-Prot
    A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
    UniProtKB/TrEMBL
    A0A0C4DGX9
    Related
    ENSP00000337653.6, ENST00000338104.10
    Conserved Domains (2) summary
    COG0457
    Location:257 → 514
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:377 → 404
    TPR; TPR repeat [structural motif]

  2. NM_001288782.1 → NP_001275711.1  tetratricopeptide repeat protein 8 isoform E

    See identical proteins and their annotated locations for NP_001275711.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR, uses an alternate start codon and an alternate splice site in its 5' coding region, and lacks an exon in its 5' coding region, compared to variant 1. The encoded isoform (E) has a shorter and distinct N-terminus, compared to isoform A.
    Source sequence(s)
    BU738965, BX161472, BX247959
    UniProtKB/TrEMBL
    A0A0S2Z5V9
    Conserved Domains (2) summary
    sd00006
    Location:163 → 190
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:199 → 264
    TPR_11; TPR repeat

  3. NM_001288783.1 → NP_001275712.1  tetratricopeptide repeat protein 8 isoform F

    See identical proteins and their annotated locations for NP_001275712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (F) has a shorter N-terminus, compared to isoform A.
    Source sequence(s)
    AK093891, AY366523, BU738965, BX247959
    UniProtKB/TrEMBL
    B3KSL8
    Conserved Domains (3) summary
    TIGR02521
    Location:102 → 223
    type_IV_pilW; type IV pilus biogenesis/stability protein PilW
    TIGR02917
    Location:2 → 259
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:122 → 149
    TPR; TPR repeat [structural motif]

  4. NM_001366535.2 → NP_001353464.1  tetratricopeptide repeat protein 8 isoform G

    Status: REVIEWED

    Source sequence(s)
    AL121768, AL133238
    UniProtKB/TrEMBL
    H0YJX0
    Conserved Domains (3) summary
    COG0457
    Location:170 → 397
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:220 → 243
    TPR; TPR repeat [structural motif]
    cl26004
    Location:366 → 443
    PRK02603; photosystem I assembly protein Ycf3; Provisional

  5. NM_001366536.2 → NP_001353465.1  tetratricopeptide repeat protein 8 isoform H

    Status: REVIEWED

    Source sequence(s)
    AL121768, AL133238
    UniProtKB/TrEMBL
    H0YJX0
    Related
    ENSP00000452354.1, ENST00000554686.5
    Conserved Domains (3) summary
    sd00006
    Location:190 → 213
    TPR; TPR repeat [structural motif]
    pfam13429
    Location:160 → 314
    TPR_15; Tetratricopeptide repeat
    cl26002
    Location:262 → 409
    TPR_11; TPR repeat

  6. NM_144596.4 → NP_653197.2  tetratricopeptide repeat protein 8 isoform A

    See identical proteins and their annotated locations for NP_653197.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A.
    Source sequence(s)
    AK124675, AY366523, BX247959
    Consensus CDS
    CCDS32137.1
    UniProtKB/Swiss-Prot
    A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
    Related
    ENSP00000370031.2, ENST00000380656.7
    Conserved Domains (2) summary
    COG0457
    Location:241 → 498
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:361 → 388
    TPR; TPR repeat [structural motif]

  7. NM_198309.3 → NP_938051.1  tetratricopeptide repeat protein 8 isoform B

    See identical proteins and their annotated locations for NP_938051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (B) is shorter, compared to isoform A.
    Source sequence(s)
    AY366523, BU738965, BX247959
    Consensus CDS
    CCDS9885.1
    UniProtKB/Swiss-Prot
    A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
    UniProtKB/TrEMBL
    A0A0C4DGY3
    Related
    ENSP00000482721.1, ENST00000622513.4
    Conserved Domains (2) summary
    COG0457
    Location:231 → 488
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:351 → 378
    TPR; TPR repeat [structural motif]

  8. NM_198310.3 → NP_938052.1  tetratricopeptide repeat protein 8 isoform C

    See identical proteins and their annotated locations for NP_938052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the 5' and central coding region, compared to variant 1. The encoded isoform (C) is shorter, compared to isoform A.
    Source sequence(s)
    AY366524, BU738965, BX247959
    Consensus CDS
    CCDS9886.1
    UniProtKB/TrEMBL
    A0A0C4DGH8, H0YJX0
    Related
    ENSP00000298324.6, ENST00000346301.8
    Conserved Domains (2) summary
    COG0457
    Location:201 → 458
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:321 → 348
    TPR; TPR repeat [structural motif]

RNA

  1. NR_159362.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121768, AL133238

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    88824153..88881079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536433.3 → XP_011534735.1  tetratricopeptide repeat protein 8 isoform X1

    UniProtKB/Swiss-Prot
    A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
    Conserved Domains (3) summary
    sd00006
    Location:246 → 269
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:275 → 338
    TPR_11; TPR repeat
    pfam13432
    Location:417 → 476
    TPR_16; Tetratricopeptide repeat

  2. XM_011536434.3 → XP_011534736.1  tetratricopeptide repeat protein 8 isoform X2

    UniProtKB/Swiss-Prot
    A6NFG2, B3KWA5, Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q8TAM2, Q96DG8
    Conserved Domains (2) summary
    COG0457
    Location:227 → 484
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:347 → 374
    TPR; TPR repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    83047758..83104682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375403.1 → XP_054231378.1  tetratricopeptide repeat protein 8 isoform X1

  2. XM_054375404.1 → XP_054231379.1  tetratricopeptide repeat protein 8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TAM2.2 GenPept UniProtKB/Swiss-Prot:Q8TAM2

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