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
  • Tetratricopeptide Repeat Protein 7B 3 4
  • 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. Diseases associated with TTC7B include Hypomyelinating Leukoencephalopathy and Gastrointestinal Defects And Immunodeficiency Syndrome. An important paralog of this gene is TTC7A.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for TTC7B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC7B Gene

Genomics for TTC7B Gene

GeneHancer (GH) Regulatory Elements for TTC7B Gene

Promoters and enhancers for TTC7B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J090814 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 506.8 +0.7 679 2.8 ZSCAN5C PHB2 CTCF ZIC2 ZBTB10 ZBTB26 MYC ZBTB7A FOXA2 NR2F2 TTC7B lnc-RPS6KA5-2
GH14J090644 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 505 +170.9 170896 2.9 USF1 JUND TEAD4 RFX1 HDAC2 RXRA CEBPB FOS FOSL2 TCF12 TTC7B ENSG00000259163 LOC101928909 lnc-RPS6KA5-3
GH14J090757 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 21 +57.7 57716 2.5 HNRNPK ZBTB40 CTCF NRF1 USF1 POLR2G POLR2A ZBTB26 REST MYC ENSG00000287663 PPP4R3A TTC7B NRDE2 CALM1 ENSG00000213315 DGLUCY RPS18P2
GH14J090720 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.8 +94.4 94378 4.2 NRF1 MYC CTBP1 MXI1 NCOR1 NFIC TRIM24 SPI1 TAL1 MNT TTC7B NRDE2 piR-34163-009 ENSG00000287663
GH14J090827 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 9.3 -12.1 -12097 2.2 JUND ZIC2 ZBTB10 ZBTB26 MYC ATF2 TAF9B NFYB POLR2A MXI1 LINC02321 TTC7B lnc-DGLUCY-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTC7B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTC7B

Top Transcription factor binding sites by QIAGEN in the TTC7B gene promoter:
  • Bach1
  • Cdc5
  • Evi-1
  • FOXD3
  • LCR-F1
  • MyoD
  • TBP
  • TFIID
  • USF-1:USF-2
  • USF1

Genomic Locations for TTC7B Gene

Genomic Locations for TTC7B Gene
chr14:90,524,564-90,816,479
(GRCh38/hg38)
Size:
291,916 bases
Orientation:
Minus strand
chr14:91,006,932-91,282,823
(GRCh37/hg19)
Size:
275,892 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAI46128.1; Type=Frameshift; 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

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

GenScript: Design optimal peptide antigens:
  • TTC7B protein (Q6PIF1_HUMAN)
  • Tetratricopeptide repeat protein 7-like-1 (TTC7B_HUMAN)
genes like me logo Genes that share domains with TTC7B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TTC7B Gene

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 From GWAS Catalog for TTC7B Gene

Gene Ontology (GO) - Molecular Function for TTC7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23229899
genes like me logo Genes that share ontologies with TTC7B: view
genes like me logo Genes that share phenotypes with TTC7B: view

Animal Model Products

CRISPR Products

miRNA for TTC7B Gene

miRTarBase miRNAs that target TTC7B

Clone Products

  • Addgene plasmids for TTC7B

No data available for Enzyme Numbers (IUBMB) , 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
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 TTC7B gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTC7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,IEA 23229899
GO:0005886 plasma membrane IDA,IBA 23229899
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TTC7B: view

Pathways & Interactions for TTC7B Gene

PathCards logo

SuperPathways for TTC7B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046854 phosphatidylinositol phosphorylation IDA 23229899
GO:0072659 protein localization to plasma membrane 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

mRNA/cDNA for TTC7B Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for TTC7B

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

Expression for TTC7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TTC7B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTC7B

SOURCE GeneReport for Unigene cluster for TTC7B Gene:

Hs.655697

Evidence on tissue expression from TISSUES for TTC7B Gene

  • Liver(4.2)
  • Lymph node(4.1)
  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with TTC7B: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.37 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TTC7B 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC7B 31 30
  • 92.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTC7B 31 30
  • 90.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc7b 17 31 30
  • 90.19 (n)
chicken
(Gallus gallus)
Aves TTC7B 31 30
  • 80.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC7B 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc7b 30
  • 77.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3921 30
zebrafish
(Danio rerio)
Actinopterygii ttc7b 31 30
  • 74.02 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010587 30
  • 47.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14710 31 30
  • 47.57 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y39A3CR.3 31 30
  • 42.78 (n)
OneToMany
Species where no ortholog for TTC7B was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TTC7B: view image

Paralogs for TTC7B Gene

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

  • TTC7B_HUMAN
  • G3V3E4_HUMAN
  • G3V3H1_HUMAN
  • H0YIZ4_HUMAN
  • H0YJP9_HUMAN
  • H0YJS2_HUMAN
  • H0YK02_HUMAN
  • Q6PIF1_HUMAN

Pseudogenes.org Pseudogenes for TTC7B Gene

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

Variants for TTC7B Gene

Additional dbSNP identifiers (rs#s) for TTC7B Gene

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

Variant ID Type Subtype PubMed ID
esv1131124 CNV insertion 17803354
esv1610604 CNV insertion 17803354
esv2657236 CNV deletion 23128226
esv2659108 CNV deletion 23128226
esv2660016 CNV deletion 23128226
esv2749010 CNV deletion 23290073
esv2761477 CNV loss 21179565
esv3551957 CNV deletion 23714750
esv3581386 CNV loss 25503493
esv3581387 CNV loss 25503493
esv3635309 CNV gain 21293372
esv3635316 CNV loss 21293372
esv3635318 CNV loss 21293372
nsv1070232 CNV deletion 25765185
nsv1071163 CNV deletion 25765185
nsv1108916 CNV deletion 24896259
nsv1134396 CNV deletion 24896259
nsv456392 CNV loss 19166990
nsv470654 CNV loss 18288195
nsv472325 CNV novel sequence insertion 20440878
nsv476155 CNV novel sequence insertion 20440878
nsv516108 CNV loss 19592680
nsv520068 CNV loss 19592680
nsv565516 CNV loss 21841781
nsv817641 CNV loss 17921354
nsv832855 CNV loss 17160897
nsv84673 CNV deletion 16902084
nsv976365 CNV duplication 23825009

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)

Additional Variant Information for TTC7B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC7B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTC7B Gene

Disorders for TTC7B Gene

MalaCards: The human disease database

(2) MalaCards diseases for TTC7B Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search TTC7B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTC7B

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

No data available for 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 plasma membrane. (PMID: 26571211) Baskin JM … De Camilli P (Nature cell biology 2016) 3 4 54
  2. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PMID: 21993531) Kuparinen T … Hurme M (Genes and immunity 2012) 3 41 54
  3. PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity. (PMID: 23229899) Nakatsu F … De Camilli P (The Journal of cell biology 2012) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 54

Products for TTC7B Gene

Sources for TTC7B Gene