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Aliases for TTC8 Gene

Aliases for TTC8 Gene

  • Tetratricopeptide Repeat Domain 8 2 3 5
  • TPR Repeat Protein 8 3 4
  • BBS8 3 4
  • Tetratricopeptide Repeat Protein 8 3
  • Bardet-Biedl Syndrome 8 Protein 4
  • Bardet-Biedl Syndrome Type 8 3
  • RP51 3

External Ids for TTC8 Gene

Previous GeneCards Identifiers for TTC8 Gene

  • GC14P083107
  • GC14P087280
  • GC14P087281
  • GC14P088360
  • GC14P089290
  • GC14P069465
  • GC14P088837
  • GC14P088842
  • GC14P088845
  • GC14P088846
  • GC14P088847

Summaries for TTC8 Gene

Entrez Gene Summary for TTC8 Gene

  • 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]

GeneCards Summary for TTC8 Gene

TTC8 (Tetratricopeptide Repeat Domain 8) is a Protein Coding gene. Diseases associated with TTC8 include Retinitis Pigmentosa 51 and Bardet-Biedl Syndrome 8. Among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding. An important paralog of this gene is BBS4.

UniProtKB/Swiss-Prot for TTC8 Gene

  • The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Gene Wiki entry for TTC8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC8 Gene

Genomics for TTC8 Gene

Regulatory Elements for TTC8 Gene

Enhancers for TTC8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G088904 0.5 ENCODE 10.7 +80.8 80843 1.1 FOXA2 MBD1 ZIC2 EP300 ZNF652 TTC8 RNU4-92P LOC105370614 GC14M091545 GC14P088982
GH14G088823 1 ENCODE 0.7 +0.6 633 2.0 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 KLF13 SPATA7 TTC8 GC14P088843
GH14G088834 0.9 Ensembl ENCODE 0.4 +11.1 11072 2.4 BHLHE40 HLF JUND ZFHX2 POLR2A ZSCAN5C MAFK ZNF652 ZBTB20 EGR2 EML5 LOC105370614 GC14P088843 TTC8
GH14G088829 0.7 ENCODE 0.4 +5.2 5179 0.2 FOXA2 SAP130 TAF1 MAX CEBPG YY1 GATAD2A TEAD1 FOXA3 CEBPB TTC8 GC14P088843
GH14G088830 0.7 ENCODE 0.4 +6.9 6898 2.7 CEBPG FEZF1 CHD7 RAD21 ZNF121 ZNF316 POLR2A HNF4G NFE2 MAFK RNU4-22P EML5 LOC105370614 SPATA7 TTC8 GC14P088843
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC8 on UCSC Golden Path with GeneCards custom track

Promoters for TTC8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071732 448 1600 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 FOS

Genomic Location for TTC8 Gene

Chromosome:
14
Start:
88,824,153 bp from pter
End:
88,881,078 bp from pter
Size:
56,926 bases
Orientation:
Plus strand

Genomic View for TTC8 Gene

Genes around TTC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC8 Gene

Proteins for TTC8 Gene

  • Protein details for TTC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAM2-TTC8_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 8
    Protein Accession:
    Q8TAM2
    Secondary Accessions:
    • A6NFG2
    • B3KWA5
    • Q67B97
    • Q86SY0
    • Q86TV9
    • Q86U26
    • Q8NDH9
    • Q96DG8

    Protein attributes for TTC8 Gene

    Size:
    541 amino acids
    Molecular mass:
    61534 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B. Interacts with PKD1 (PubMed:24939912).
    SequenceCaution:
    • Sequence=CAD61928.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAD62360.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC8 Gene

Post-translational modifications for TTC8 Gene

  • Ubiquitination at posLast=503503, isoforms=2, 3, 4516, and Lys532
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTC8 Gene

Domains & Families for TTC8 Gene

Protein Domains for TTC8 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TTC8: view

No data available for UniProtKB/Swiss-Prot for TTC8 Gene

Function for TTC8 Gene

Molecular function for TTC8 Gene

UniProtKB/Swiss-Prot Function:
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Gene Ontology (GO) - Molecular Function for TTC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 14520415
genes like me logo Genes that share ontologies with TTC8: view
genes like me logo Genes that share phenotypes with TTC8: view

Human Phenotype Ontology for TTC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TTC8 Gene

MGI Knock Outs for TTC8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TTC8 Gene

Localization for TTC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC8 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTC8 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 3
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TTC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 14520415
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TTC8: view

Pathways & Interactions for TTC8 Gene

genes like me logo Genes that share pathways with TTC8: view

Gene Ontology (GO) - Biological Process for TTC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity IEA --
GO:0006810 transport IEA --
GO:0007411 axon guidance IEA --
GO:0007608 sensory perception of smell IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with TTC8: view

No data available for SIGNOR curated interactions for TTC8 Gene

Drugs & Compounds for TTC8 Gene

No Compound Related Data Available

Transcripts for TTC8 Gene

Unigene Clusters for TTC8 Gene

Tetratricopeptide repeat domain 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC8 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - -
SP6: - -
SP7: - - - - - - - - - - - - - - - - -
SP8: - -
SP9: - - -
SP10: - - - -
SP11: -
SP12: - -

ExUns: 19a · 19b · 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for TTC8 Gene

GeneLoc Exon Structure for
TTC8
ECgene alternative splicing isoforms for
TTC8

Expression for TTC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTC8 Gene

This gene is overexpressed in Retina (40.0), Testis (13.5), and Ovary (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTC8 Gene



Protein tissue co-expression partners for TTC8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC8 Gene:

TTC8

SOURCE GeneReport for Unigene cluster for TTC8 Gene:

Hs.303055

mRNA Expression by UniProt/SwissProt for TTC8 Gene:

Q8TAM2-TTC8_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TTC8 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TTC8: view

Primer Products

No data available for mRNA differential expression in normal tissues for TTC8 Gene

Orthologs for TTC8 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC8 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia TTC8 34 35
  • 92.94 (n)
oppossum
(Monodelphis domestica)
Mammalia TTC8 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC8 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC8 34 35
  • 89.99 (n)
mouse
(Mus musculus)
Mammalia Ttc8 34 16 35
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Ttc8 34
  • 85.57 (n)
chicken
(Gallus gallus)
Aves TTC8 34 35
  • 78.38 (n)
lizard
(Anolis carolinensis)
Reptilia TTC8 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc8 34
  • 75.31 (n)
zebrafish
(Danio rerio)
Actinopterygii ttc8 34 35
  • 70.3 (n)
wufk26c02 34
fruit fly
(Drosophila melanogaster)
Insecta BBS8 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bbs-8 34 35
  • 50.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.492 34
Species where no ortholog for TTC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTC8 Gene

ENSEMBL:
Gene Tree for TTC8 (if available)
TreeFam:
Gene Tree for TTC8 (if available)

Paralogs for TTC8 Gene

Paralogs for TTC8 Gene

(1) SIMAP similar genes for TTC8 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for TTC8 Gene

genes like me logo Genes that share paralogs with TTC8: view

Variants for TTC8 Gene

Sequence variations from dbSNP and Humsavar for TTC8 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs119103286 Pathogenic 88,841,196(+) GGAAC(A/G)GTAAA reference, synonymous-codon, utr-variant-5-prime
rs587777806 Pathogenic 88,843,815(+) TGTTT(-/GAGTAT)ATCTT intron-variant, cds-indel
rs587777807 Pathogenic 88,870,200(+) ACAGG(-/TGC)ACTTC splice-donor-variant
rs587777808 Pathogenic 88,843,851(+) AGACT(A/G)TAAGT intron-variant, splice-donor-variant
rs587777809 Pathogenic 88,833,691(+) TTTCC(A/G)GGAAC intron-variant, splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC8 Gene

Variant ID Type Subtype PubMed ID
dgv1955n100 CNV gain 25217958
nsv832850 CNV gain+loss 17160897

Variation tolerance for TTC8 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC8 Gene

Human Gene Mutation Database (HGMD)
TTC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC8 Gene

Disorders for TTC8 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TTC8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TTC8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTC8_HUMAN
  • Bardet-Biedl syndrome 8 (BBS8) [MIM:615985]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:14520415, ECO:0000269 PubMed:16308660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 51 (RP51) [MIM:613464]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:14520415, ECO:0000269 PubMed:15489334, ECO:0000269 PubMed:17974005, ECO:0000269 PubMed:20451172, ECO:0000269 Ref.2, ECO:0000269 Ref.3, ECO:0000269 Ref.7}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTC8

Genetic Association Database (GAD)
TTC8
Human Genome Epidemiology (HuGE) Navigator
TTC8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC8
genes like me logo Genes that share disorders with TTC8: view

No data available for Genatlas for TTC8 Gene

Publications for TTC8 Gene

  1. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. (PMID: 20451172) Riazuddin S.A. … Katsanis N. (Am. J. Hum. Genet. 2010) 2 3 4 64
  2. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. (PMID: 14520415) Ansley S.J. … Katsanis N. (Nature 2003) 2 3 4 64
  3. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. (PMID: 24939912) Su X. … Zhou J. (Hum. Mol. Genet. 2014) 3 4 64
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64
  5. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PMID: 19077438) Chung W.K. … Tiwari H.K. (Hum. Hered. 2009) 3 46 64

Products for TTC8 Gene

Sources for TTC8 Gene

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