Aliases for TTC39C Gene

Aliases for TTC39C Gene

  • Tetratricopeptide Repeat Domain 39C 2 3 5
  • Tetratricopeptide Repeat Protein 39C 3 4
  • TPR Repeat Protein 39C 3 4
  • C18orf17 3 4
  • Chromosome 18 Open Reading Frame 17 2
  • HsT2697 3

External Ids for TTC39C Gene

Previous HGNC Symbols for TTC39C Gene

  • C18orf17

Previous GeneCards Identifiers for TTC39C Gene

  • GC18P019827
  • GC18P021572
  • GC18P018428

Summaries for TTC39C Gene

GeneCards Summary for TTC39C Gene

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

Additional gene information for TTC39C Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC39C Gene

Genomics for TTC39C Gene

GeneHancer (GH) Regulatory Elements for TTC39C Gene

Promoters and enhancers for TTC39C 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
GH18J024013 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.3 +22.7 22728 4.6 CTCF POLR2A MYC ETV6 RELA RAD21 ZNF121 MNT NKRF ELF3 TTC39C-AS1 NONHSAG023555.2 TTC39C
GH18J023991 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 750.6 +0.7 692 3.7 ZNF24 ETV6 HLF RAD21 BCL6B POLR2A SP1 SP7 ZSCAN21 CREM TTC39C LAMA3 TTC39C-AS1 CABYR ANKRD29 RPL23AP77 NONHSAG023555.2
GH18J023992 Enhancer 0.6 ENCODE dbSUPER 750.6 -1.6 -1561 0.2 BCL6B MAFK ZNF316 YY2 TTC39C LAMA3 ANKRD29 ENSG00000265752 TTC39C-AS1
GH18J023998 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 43.9 +8.9 8928 8.2 SREBF1 MNT RAD21 SP1 SP7 PRDM1 IKZF1 ZIC2 RXRA ZNF512 TTC39C TTC39C-AS1 LAMA3 CABYR ANKRD29 RMC1 NONHSAG023555.2
GH18J023964 Enhancer 1.2 FANTOM5 Ensembl ENCODE 31 -24.0 -23972 10 ZBTB40 HCFC1 ZNF121 MNT RAD21 MLLT1 NFRKB ZNF687 CREM IKZF1 LOC105372023 TTC39C LAMA3 CABYR ANKRD29 TTC39C-AS1 ENSG00000265752 RMC1 piR-38051-134
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTC39C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC39C gene promoter:
  • ARP-1
  • Cart-1
  • En-1
  • HNF-4alpha1
  • POU6F1 (c2)
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4
  • Sp1

Genomic Locations for TTC39C Gene

Genomic Locations for TTC39C Gene
chr18:23,992,773-24,135,610
(GRCh38/hg38)
Size:
142,838 bases
Orientation:
Plus strand
chr18:21,572,737-21,715,574
(GRCh37/hg19)
Size:
142,838 bases
Orientation:
Plus strand

Genomic View for TTC39C Gene

Genes around TTC39C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC39C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC39C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC39C Gene

Proteins for TTC39C Gene

  • Protein details for TTC39C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N584-TT39C_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 39C
    Protein Accession:
    Q8N584
    Secondary Accessions:
    • B7WP63
    • J3QRR1
    • Q0VAJ2
    • Q8N284

    Protein attributes for TTC39C Gene

    Size:
    583 amino acids
    Molecular mass:
    65870 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32684.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC39C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC39C Gene

Post-translational modifications for TTC39C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTC39C Gene

Domains & Families for TTC39C Gene

Gene Families for TTC39C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TTC39C Gene

Suggested Antigen Peptide Sequences for TTC39C Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat protein 39C (TT39C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N584

UniProtKB/Swiss-Prot:

TT39C_HUMAN :
  • Belongs to the TTC39 family.
Family:
  • Belongs to the TTC39 family.
genes like me logo Genes that share domains with TTC39C: view

Function for TTC39C Gene

Phenotypes From GWAS Catalog for TTC39C Gene

genes like me logo Genes that share phenotypes with TTC39C: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC39C Gene

Localization for TTC39C Gene

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 TTC39C gene
Compartment Confidence
cytosol 2
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TTC39C Gene

Pathways & Interactions for TTC39C Gene

PathCards logo

SuperPathways for TTC39C Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC39C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032474 otolith morphogenesis IBA 21873635
GO:0060271 cilium assembly IBA 21873635
genes like me logo Genes that share ontologies with TTC39C: view

No data available for Pathways by source and SIGNOR curated interactions for TTC39C Gene

Drugs & Compounds for TTC39C Gene

No Compound Related Data Available

Transcripts for TTC39C Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC39C Gene

No ASD Table

Relevant External Links for TTC39C Gene

GeneLoc Exon Structure for
TTC39C
ECgene alternative splicing isoforms for
TTC39C

Expression for TTC39C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC39C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTC39C Gene

This gene is overexpressed in Liver (x10.2).

Protein differential expression in normal tissues from HIPED for TTC39C Gene

This gene is overexpressed in Spinal cord (12.9), Lung (9.5), NK cells (7.2), CD8 Tcells (7.0), and CD4 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTC39C Gene



Protein tissue co-expression partners for TTC39C Gene

NURSA nuclear receptor signaling pathways regulating expression of TTC39C Gene:

TTC39C

SOURCE GeneReport for Unigene cluster for TTC39C Gene:

Hs.128576
genes like me logo Genes that share expression patterns with TTC39C: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC39C Gene

Orthologs for TTC39C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TTC39C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC39C 33
  • 100 (a)
OneToOne
LOC100614628 32
  • 99.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTC39C 33
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC39C 33
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC39C 33 32
  • 93.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTC39C 33 32
  • 93.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc39c 17 33 32
  • 89.31 (n)
rat
(Rattus norvegicus)
Mammalia MGC125239 32
  • 88.76 (n)
chicken
(Gallus gallus)
Aves TTC39C 33 32
  • 83.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC39C 33
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc39c 32
  • 80.69 (n)
Str.17945 32
zebrafish
(Danio rerio)
Actinopterygii ttc39c 33 32
  • 68.73 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001215 32
  • 48.67 (n)
worm
(Caenorhabditis elegans)
Secernentea C32D5.6 33
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
Species where no ortholog for TTC39C 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)
  • 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 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 TTC39C Gene

ENSEMBL:
Gene Tree for TTC39C (if available)
TreeFam:
Gene Tree for TTC39C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTC39C: view image

Paralogs for TTC39C Gene

Paralogs for TTC39C Gene

Pseudogenes.org Pseudogenes for TTC39C Gene

genes like me logo Genes that share paralogs with TTC39C: view

Variants for TTC39C Gene

Sequence variations from dbSNP and Humsavar for TTC39C Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000009355 -- 24,044,987(+) G/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000021272 -- 24,087,110(+) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000027592 -- 24,004,327(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000035421 -- 24,091,821(+) GG/GGG genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000086494 -- 24,088,603(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TTC39C Gene

Variant ID Type Subtype PubMed ID
esv2641358 CNV deletion 19546169
esv2678806 CNV deletion 23128226
esv3302765 CNV tandem duplication 20981092
esv3641975 CNV gain 21293372
esv3641976 CNV loss 21293372
nsv828189 CNV gain 20364138

Variation tolerance for TTC39C Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC39C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC39C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC39C Gene

Disorders for TTC39C Gene

Additional Disease Information for TTC39C

No disorders were found for TTC39C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTC39C Gene

Publications for TTC39C Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 56
  2. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 3 4 56
  3. 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 56
  4. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M … Rocchi P (Molecular & cellular proteomics : MCP 2014) 3 56
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 56

Products for TTC39C Gene

Sources for TTC39C Gene