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Aliases for TTC7B Gene

Aliases for TTC7B Gene

  • Tetratricopeptide Repeat Domain 7B 2 3 5
  • Tetratricopeptide Repeat Protein 7-Like-1 3 4
  • Tetratricopeptide Repeat Domain 7 Like 1 2 3
  • TPR Repeat Protein 7-Like-1 3 4
  • TPR Repeat Protein 7B 3 4
  • TTC7L1 3 4
  • C14_5685 3

External Ids for TTC7B Gene

Previous HGNC Symbols for TTC7B Gene

  • TTC7L1

Previous GeneCards Identifiers for TTC7B Gene

  • GC14M088997
  • GC14M090076
  • GC14M091006
  • GC14M071182

Summaries for TTC7B Gene

GeneCards Summary for TTC7B Gene

TTC7B (Tetratricopeptide Repeat Domain 7B) is a Protein Coding gene. An important paralog of this gene is TTC7A.

UniProtKB/Swiss-Prot for TTC7B Gene

  • Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (PubMed:26571211).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC7B Gene

Genomics for TTC7B Gene

Regulatory Elements for TTC7B Gene

Promoters for TTC7B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TTC7B on UCSC Golden Path with GeneCards custom track

Genomic Location for TTC7B Gene

Chromosome:
14
Start:
90,524,564 bp from pter
End:
90,816,479 bp from pter
Size:
291,916 bases
Orientation:
Minus strand

Genomic View for TTC7B Gene

Genes around TTC7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC7B Gene

Proteins for TTC7B Gene

  • Protein details for TTC7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TV6-TTC7B_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 7B
    Protein Accession:
    Q86TV6
    Secondary Accessions:
    • Q86U24
    • Q86VT3

    Protein attributes for TTC7B Gene

    Size:
    843 amino acids
    Molecular mass:
    94179 Da
    Quaternary structure:
    • Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:23229899). Interacts with PI4KA, interaction is direct (PubMed:26571211). Interacts with EFR3 (EFR3A or EFR3B), interaction is direct (PubMed:26571211). Interacts with FAM126 (FAM126A or FAM126B), interaction is direct (PubMed:26571211). Association with the PI4K complex is strongly reduced by TMEM150A (PubMed:25608530).
    SequenceCaution:
    • Sequence=CAI46128.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI46128.1; Type=Frameshift; Positions=718; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TTC7B Gene

    Alternative splice isoforms for TTC7B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC7B Gene

Proteomics data for TTC7B Gene at MOPED

Post-translational modifications for TTC7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTC7B Gene

Domains & Families for TTC7B Gene

Gene Families for TTC7B Gene

Protein Domains for TTC7B Gene

Suggested Antigen Peptide Sequences for TTC7B Gene

Graphical View of Domain Structure for InterPro Entry

Q86TV6

UniProtKB/Swiss-Prot:

TTC7B_HUMAN :
  • Contains 11 TPR repeats.
Similarity:
  • Contains 11 TPR repeats.
genes like me logo Genes that share domains with TTC7B: view

Function for TTC7B Gene

Molecular function for TTC7B Gene

UniProtKB/Swiss-Prot Function:
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (PubMed:26571211).

Phenotypes for TTC7B Gene

genes like me logo Genes that share phenotypes with TTC7B: view

Animal Model Products

miRNA for TTC7B Gene

miRTarBase miRNAs that target TTC7B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC7B Gene

Localization for TTC7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC7B Gene

Cytoplasm, cytosol. Cell membrane. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with EFR3 (EFR3A or EFR3B) (PubMed:23229899). {ECO:0000269 PubMed:23229899}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC7B Gene COMPARTMENTS Subcellular localization image for TTC7B gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for TTC7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 23229899
genes like me logo Genes that share ontologies with TTC7B: view

Pathways & Interactions for TTC7B Gene

SuperPathways for TTC7B Gene

No Data Available

Interacting Proteins for TTC7B Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000336127%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000458238%0d%0a9606.ENSP00000384081%0d%0a
Selected Interacting proteins: Q86TV6-TTC7B_HUMAN ENSP00000336127 for TTC7B Gene via I2D STRING

Gene Ontology (GO) - Biological Process for TTC7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046854 phosphatidylinositol phosphorylation IDA 23229899
genes like me logo Genes that share ontologies with TTC7B: view

No data available for Pathways by source and SIGNOR curated interactions for TTC7B Gene

Drugs & Compounds for TTC7B Gene

No Compound Related Data Available

Transcripts for TTC7B Gene

Unigene Clusters for TTC7B Gene

Tetratricopeptide repeat domain 7B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC7B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c
SP1: -
SP2: - -
SP3: - - - -
SP4:

Relevant External Links for TTC7B Gene

GeneLoc Exon Structure for
TTC7B
ECgene alternative splicing isoforms for
TTC7B

Expression for TTC7B Gene

mRNA expression in normal human tissues for TTC7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTC7B Gene

This gene is overexpressed in Serum (21.1), Brain (19.1), and Frontal cortex (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC7B Gene



SOURCE GeneReport for Unigene cluster for TTC7B Gene Hs.655697

genes like me logo Genes that share expression patterns with TTC7B: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TTC7B Gene

Orthologs for TTC7B Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC7B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC7B 36
  • 98 (a)
OneToOne
TTC7B 35
  • 99.37 (n)
  • 99.53 (a)
cow
(Bos Taurus)
Mammalia TTC7B 35
  • 90.6 (n)
  • 95.63 (a)
TTC7B 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC7B 36
  • 98 (a)
OneToOne
TTC7B 35
  • 92.26 (n)
  • 98 (a)
mouse
(Mus musculus)
Mammalia Ttc7b 36
  • 97 (a)
OneToOne
Ttc7b 16
Ttc7b 35
  • 90.19 (n)
  • 97.15 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TTC7B 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC7B 35
  • 80.98 (n)
  • 93.7 (a)
TTC7B 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC7B 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3921 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc7b 35
  • 77.03 (n)
  • 89.32 (a)
zebrafish
(Danio rerio)
Actinopterygii ttc7b 36
  • 83 (a)
OneToOne
ttc7b 35
  • 74.02 (n)
  • 83.39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010587 35
  • 47.79 (n)
  • 39.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14710 36
  • 36 (a)
OneToMany
l(2)k14710 35
  • 47.57 (n)
  • 37.38 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39A3CR.3 35
  • 42.78 (n)
  • 31.04 (a)
Y39A3CR.3 36
  • 24 (a)
OneToMany
Species with no ortholog for TTC7B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TTC7B Gene

ENSEMBL:
Gene Tree for TTC7B (if available)
TreeFam:
Gene Tree for TTC7B (if available)

Paralogs for TTC7B Gene

Paralogs for TTC7B Gene

(1) SIMAP similar genes for TTC7B Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for TTC7B Gene

genes like me logo Genes that share paralogs with TTC7B: view

Variants for TTC7B Gene

Sequence variations from dbSNP and Humsavar for TTC7B Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs714489 -- 90,559,918(+) CGCGC(A/G)CTCCC intron-variant
rs727350 -- 90,797,437(-) tctgt(C/T)gccca intron-variant
rs1077697 -- 90,676,435(-) CCTGG(A/G)CCCCC intron-variant
rs737508 -- 90,664,875(+) atggg(C/T)tggct intron-variant
rs941696 -- 90,758,302(-) CCTGC(A/T)TCTCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC7B Gene

Variant ID Type Subtype PubMed ID
nsv470654 CNV Loss 18288195
nsv520068 CNV Loss 19592680
nsv456392 CNV Loss 19166990
dgv1973n71 CNV Loss 21882294
esv2749010 CNV Deletion 23290073
esv2657236 CNV Deletion 23128226
esv2660016 CNV Deletion 23128226
nsv84673 CNV Loss 16902084
esv1131124 CNV Insertion 17803354
esv270875 CNV Insertion 20981092
esv272559 CNV Insertion 20981092
esv1610604 CNV Insertion 17803354
nsv832855 CNV Loss 17160897
esv2659108 CNV Deletion 23128226
nsv516108 CNV Loss 19592680
nsv817641 CNV Loss 17921354

Variation tolerance for TTC7B Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC7B Gene

HapMap Linkage Disequilibrium report
TTC7B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC7B Gene

Disorders for TTC7B Gene

Relevant External Links for TTC7B

Genetic Association Database (GAD)
TTC7B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC7B

No disorders were found for TTC7B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTC7B Gene

Publications for TTC7B Gene

  1. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasmaA membrane. (PMID: 26571211) Baskin J.M. … De Camilli P. (Nat. Cell Biol. 2015) 3 4 67
  2. Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. (PMID: 25390645) Otowa T. … Hettema J.M. (PLoS ONE 2014) 3
  3. TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches. (PMID: 22453632) Krug T. … Oliveira S.A. (J. Cereb. Blood Flow Metab. 2012) 3
  4. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PMID: 21993531) Kuparinen T. … Hurme M. (Genes Immun. 2012) 3
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3

Products for TTC7B Gene

Sources for TTC7B Gene

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