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Aliases for TTC39B Gene

Aliases for TTC39B Gene

  • Tetratricopeptide Repeat Domain 39B 2 3
  • TPR Repeat Protein 39B 3 4
  • C9orf52 3 4
  • Chromosome 9 Open Reading Frame 52 2

External Ids for TTC39B Gene

Previous HGNC Symbols for TTC39B Gene

  • C9orf52

Previous GeneCards Identifiers for TTC39B Gene

  • GC09M015162

Summaries for TTC39B Gene

GeneCards Summary for TTC39B Gene

TTC39B (Tetratricopeptide Repeat Domain 39B) is a Protein Coding gene. An important paralog of this gene is TTC39C.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC39B Gene

Genomics for TTC39B Gene

Regulatory Elements for TTC39B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TTC39B Gene

Chromosome:
9
Start:
15,163,622 bp from pter
End:
15,307,360 bp from pter
Size:
143,739 bases
Orientation:
Minus strand

Genomic View for TTC39B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTC39B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC39B Gene

Proteins for TTC39B Gene

  • Protein details for TTC39B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VTQ0-TT39B_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 39B
    Protein Accession:
    Q5VTQ0
    Secondary Accessions:
    • A5PLN1
    • B4DQ10
    • B4DQX4
    • B4DW93
    • Q8IVR7
    • Q8IXZ6
    • Q8N267

    Protein attributes for TTC39B Gene

    Size:
    682 amino acids
    Molecular mass:
    76956 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH42417.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI42986.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC03603.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG60772.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71481.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC39B Gene

neXtProt entry for TTC39B Gene

Proteomics data for TTC39B Gene at MOPED

Post-translational modifications for TTC39B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTC39B Gene

Domains & Families for TTC39B Gene

Gene Families for TTC39B Gene

Protein Domains for TTC39B Gene

Graphical View of Domain Structure for InterPro Entry

Q5VTQ0

UniProtKB/Swiss-Prot:

TT39B_HUMAN :
  • Belongs to the TTC39 family.
  • Contains 2 TPR repeats.
Family:
  • Belongs to the TTC39 family.
Similarity:
  • Contains 2 TPR repeats.
genes like me logo Genes that share domains with TTC39B: view

Function for TTC39B Gene

Gene Ontology (GO) - Molecular Function for TTC39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TTC39B: view
genes like me logo Genes that share phenotypes with TTC39B: view

Animal Model Products

CRISPR Products

miRNA for TTC39B Gene

miRTarBase miRNAs that target TTC39B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC39B Gene

Localization for TTC39B Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for TTC39B Gene

Pathways & Interactions for TTC39B Gene

SuperPathways for TTC39B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC39B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TTC39B Gene

Drugs & Compounds for TTC39B Gene

No Compound Related Data Available

Transcripts for TTC39B Gene

Unigene Clusters for TTC39B Gene

Tetratricopeptide repeat domain 39B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTC39B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5:

ExUns: 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for TTC39B Gene

GeneLoc Exon Structure for
TTC39B
ECgene alternative splicing isoforms for
TTC39B

Expression for TTC39B Gene

mRNA expression in normal human tissues for TTC39B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTC39B Gene

This gene is overexpressed in Urine (32.1), Peripheral blood mononuclear cells (22.6), and Heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC39B Gene



SOURCE GeneReport for Unigene cluster for TTC39B Gene Hs.563630

genes like me logo Genes that share expression patterns with TTC39B: view

Protein tissue co-expression partners for TTC39B Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TTC39B Gene

Orthologs for TTC39B Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC39B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TTC39B 35
  • 87.94 (n)
  • 86.34 (a)
TTC39B 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC39B 35
  • 90.49 (n)
  • 90.49 (a)
TTC39B 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc39b 35
  • 84.55 (n)
  • 88.46 (a)
Ttc39b 16
Ttc39b 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TTC39B 35
  • 99.27 (n)
  • 99.27 (a)
TTC39B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc39b 35
  • 85.31 (n)
  • 89.11 (a)
oppossum
(Monodelphis domestica)
Mammalia TTC39B 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC39B 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC39B 35
  • 74.65 (n)
  • 72.19 (a)
TTC39B 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC39B 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc39b 35
  • 69.41 (n)
  • 70.23 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18685 35
zebrafish
(Danio rerio)
Actinopterygii zgc:158403 36
  • 52 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010417 35
  • 50.4 (n)
  • 43.97 (a)
worm
(Caenorhabditis elegans)
Secernentea C32D5.6 35
  • 49.34 (n)
  • 39.09 (a)
C32D5.6 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for TTC39B:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 TTC39B Gene

ENSEMBL:
Gene Tree for TTC39B (if available)
TreeFam:
Gene Tree for TTC39B (if available)

Paralogs for TTC39B Gene

Paralogs for TTC39B Gene

(1) SIMAP similar genes for TTC39B Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for TTC39B Gene

genes like me logo Genes that share paralogs with TTC39B: view

Variants for TTC39B Gene

Sequence variations from dbSNP and Humsavar for TTC39B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs471321 -- 15,246,306(-) CATTA(A/C/G)CCAAA intron-variant
rs471364 -- 15,289,580(-) CTTGC(A/G)AGGTA intron-variant
rs472175 -- 15,246,214(+) cgcca(C/T)tgcac intron-variant
rs472521 -- 15,200,266(-) ATTCT(A/G)TTAAA intron-variant
rs472622 -- 15,215,004(-) AGTGC(C/T)GGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC39B Gene

Variant ID Type Subtype PubMed ID
nsv831519 CNV Loss 17160897
nsv524381 CNV Gain 19592680
nsv521191 CNV Loss 19592680
nsv483052 CNV Gain 15286789
nsv436610 CNV Deletion 17901297
nsv892624 CNV Gain 21882294
esv2677212 CNV Deletion 23128226
nsv517975 CNV Loss 19592680
nsv524849 CNV Loss 19592680

Variation tolerance for TTC39B Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC39B Gene

HapMap Linkage Disequilibrium report
TTC39B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC39B Gene

Disorders for TTC39B Gene

Relevant External Links for TTC39B

Genetic Association Database (GAD)
TTC39B
Human Genome Epidemiology (HuGE) Navigator
TTC39B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC39B
genes like me logo Genes that share disorders with TTC39B: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTC39B Gene

Publications for TTC39B Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  3. A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. (PMID: 22925353) Lee H.J. … Kelsoe J.R. (J Affect Disord 2013) 67
  4. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 67
  5. Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. (PMID: 20972250) Park M.H. … Park H.Y. (J. Med. Genet. 2011) 67

Products for TTC39B Gene

Sources for TTC39B Gene

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