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Aliases for TTC30B Gene

Aliases for TTC30B Gene

  • Tetratricopeptide Repeat Domain 30B 2 3 5
  • TPR Repeat Protein 30B 3 4
  • Tetratricopeptide Repeat Protein 30B 3
  • IFT70B 3
  • IFT70 3
  • Fleer 3

External Ids for TTC30B Gene

Previous GeneCards Identifiers for TTC30B Gene

  • GC02M178123
  • GC02M178414
  • GC02M170285

Summaries for TTC30B Gene

GeneCards Summary for TTC30B Gene

TTC30B (Tetratricopeptide Repeat Domain 30B) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is TTC30A.

UniProtKB/Swiss-Prot for TTC30B Gene

  • Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC30B Gene

Genomics for TTC30B Gene

Regulatory Elements for TTC30B Gene

Enhancers for TTC30B 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
GH02G177597 1.5 Ensembl ENCODE dbSUPER 5.1 -45.6 -45618 2.8 PKNOX1 ATF1 MLX ARNT ARID4B FEZF1 TCF12 ZNF121 ZNF488 MIER2 TTC30A TTC30B AGPS GC02M177479 GC02M177602
GH02G177602 1.2 Ensembl ENCODE 4.8 -51.0 -51016 2.8 FOXA2 ATF1 MLX ARNT ARID4B YY1 SLC30A9 ZNF143 MXD4 REST AGPS TTC30B LOC100130691 GC02M177516 ENSG00000237655
GH02G177551 1.1 ENCODE 0.7 +0.0 28 2.2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 AGPS TTC30B PIR37119
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC30B on UCSC Golden Path with GeneCards custom track

Promoters for TTC30B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126898 -304 1401 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 CBX5 ZNF207

Genomic Location for TTC30B Gene

Chromosome:
2
Start:
177,548,998 bp from pter
End:
177,553,014 bp from pter
Size:
4,017 bases
Orientation:
Minus strand

Genomic View for TTC30B Gene

Genes around TTC30B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC30B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC30B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC30B Gene

Proteins for TTC30B Gene

  • Protein details for TTC30B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4P2-TT30B_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 30B
    Protein Accession:
    Q8N4P2
    Secondary Accessions:
    • Q63HQ1
    • Q96NE6

    Protein attributes for TTC30B Gene

    Size:
    665 amino acids
    Molecular mass:
    76099 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TTC30B Gene

Post-translational modifications for TTC30B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTC30B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTC30B Gene

Domains & Families for TTC30B Gene

Protein Domains for TTC30B Gene

Suggested Antigen Peptide Sequences for TTC30B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N4P2

UniProtKB/Swiss-Prot:

TT30B_HUMAN :
  • Belongs to the TTC30/dfy-1/fleer family.
Family:
  • Belongs to the TTC30/dfy-1/fleer family.
genes like me logo Genes that share domains with TTC30B: view

Function for TTC30B Gene

Molecular function for TTC30B Gene

UniProtKB/Swiss-Prot Function:
Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip.

Gene Ontology (GO) - Molecular Function for TTC30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21602787
genes like me logo Genes that share ontologies with TTC30B: view
genes like me logo Genes that share phenotypes with TTC30B: view

Animal Model Products

CRISPR Products

miRNA for TTC30B Gene

miRTarBase miRNAs that target TTC30B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC30B Gene

Localization for TTC30B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC30B Gene

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 TTC30B gene
Compartment Confidence
cytoskeleton 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TTC30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium TAS --
GO:0030992 intraciliary transport particle B IBA --
GO:0042995 cell projection IEA --
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with TTC30B: view

Pathways & Interactions for TTC30B Gene

genes like me logo Genes that share pathways with TTC30B: view

Pathways by source for TTC30B Gene

Gene Ontology (GO) - Biological Process for TTC30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0042073 intraciliary transport IBA --
GO:0060271 cilium assembly IBA --
genes like me logo Genes that share ontologies with TTC30B: view

No data available for SIGNOR curated interactions for TTC30B Gene

Transcripts for TTC30B Gene

mRNA/cDNA for TTC30B Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTC30B Gene

Tetratricopeptide repeat domain 30B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC30B Gene

No ASD Table

Relevant External Links for TTC30B Gene

GeneLoc Exon Structure for
TTC30B
ECgene alternative splicing isoforms for
TTC30B

Expression for TTC30B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC30B Gene

mRNA differential expression in normal tissues according to GTEx for TTC30B Gene

This gene is overexpressed in Testis (x4.1).

Protein differential expression in normal tissues from HIPED for TTC30B Gene

This gene is overexpressed in Adipocyte (46.3), Testis (15.0), and Fetal ovary (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TTC30B Gene



Protein tissue co-expression partners for TTC30B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC30B Gene:

TTC30B

SOURCE GeneReport for Unigene cluster for TTC30B Gene:

Hs.447659

Evidence on tissue expression from TISSUES for TTC30B Gene

  • Heart(4.1)
  • Lung(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TTC30B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC30B Gene

Orthologs for TTC30B Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC30B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC30B 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 94 (a)
ManyToMany
-- 35
  • 91 (a)
ManyToMany
TTC30B 34
  • 89.31 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TTC30B 35
  • 93 (a)
ManyToMany
TTC30A 34 35
  • 89.86 (n)
mouse
(Mus musculus)
Mammalia Ttc30a2 35
  • 92 (a)
ManyToMany
Ttc30a1 35
  • 90 (a)
ManyToMany
Ttc30b 34 16 35
  • 87.3 (n)
rat
(Rattus norvegicus)
Mammalia Ttc30b 34
  • 86.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 78 (a)
OneToMany
TTC30A 34
  • 74.23 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc30a 34
  • 73.17 (n)
zebrafish
(Danio rerio)
Actinopterygii flr 34 35
  • 71.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta TTC30_ANOGA 34
  • 53.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5142 34 35
  • 53.62 (n)
worm
(Caenorhabditis elegans)
Secernentea dyf-1 34 35
  • 55.05 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8524 34
Species where no ortholog for TTC30B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 TTC30B Gene

ENSEMBL:
Gene Tree for TTC30B (if available)
TreeFam:
Gene Tree for TTC30B (if available)

Paralogs for TTC30B Gene

Paralogs for TTC30B Gene

(1) SIMAP similar genes for TTC30B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TTC30B: view

Variants for TTC30B Gene

Sequence variations from dbSNP and Humsavar for TTC30B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1001136824 -- 177,549,861(+) CTAAA(C/T)TGCAA downstream-variant-500B
rs1002293118 -- 177,549,922(+) AGTAG(C/T)CCCAG downstream-variant-500B
rs1003706742 -- 177,554,169(+) CAAGA(C/T)AGCAA upstream-variant-2KB
rs1004935329 -- 177,550,639(+) GCTAC(-/T)TTTTT utr-variant-3-prime
rs1005764182 -- 177,554,745(+) TTCCT(A/G)TTAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TTC30B Gene

Variant ID Type Subtype PubMed ID
esv2762964 CNV loss 21179565
nsv961534 CNV duplication 23825009

Variation tolerance for TTC30B Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 49.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC30B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC30B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC30B Gene

Disorders for TTC30B Gene

Relevant External Links for TTC30B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC30B

No disorders were found for TTC30B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTC30B Gene

Publications for TTC30B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. (PMID: 26389662) Raman M. … Harper J.W. (Nat. Cell Biol. 2015) 3 64
  5. Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. (PMID: 21602787) Zhao C. … Malicki J. (EMBO J. 2011) 3 64

Products for TTC30B Gene

Sources for TTC30B Gene

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