TTC12 Gene (Protein Coding)

Tetratricopeptide Repeat Domain 12

GC11P113314
GIFtS:
40
See more...

Aliases for TTC12 Gene

Aliases for TTC12 Gene

  • Tetratricopeptide Repeat Domain 12 2 3 5
  • Tetratricopeptide Repeat Protein 12 3 4
  • TPR Repeat Protein 12 3 4
  • TPARM 2 3
  • FLJ13859 2
  • FLJ20535 2
  • CILD45 3
  • TTC12 5

External Ids for TTC12 Gene

Previous GeneCards Identifiers for TTC12 Gene

  • GC11P112722
  • GC11P112690
  • GC11P113185
  • GC11P109112

Summaries for TTC12 Gene

GeneCards Summary for TTC12 Gene

TTC12 (Tetratricopeptide Repeat Domain 12) is a Protein Coding gene. Diseases associated with TTC12 include Ciliary Dyskinesia, Primary, 45 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is SPAG1.

UniProtKB/Swiss-Prot Summary for TTC12 Gene

  • Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella.

Additional gene information for TTC12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTC12 Gene

Genomics for TTC12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TTC12 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
GH11J113312 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 305.9 -0.1 -146 3.6 TBP ZBTB10 SP1 MXD4 NR2C1 MNT ZFP64 POLR2A THAP11 SIN3A TTC12 ENSG00000255129 DRD2 ENSG00000256757 ANKK1 NCAM1-AS1 NCAM1
GH11J113316 Enhancer 0.3 Ensembl 250.7 +2.0 1977 0.5 ZNF189 TTC12 DRD2 ENSG00000256757 HSALNG0087235 ANKK1
GH11J113289 Enhancer 1 Ensembl ENCODE dbSUPER 46.1 -24.9 -24868 0.6 CTCF REST IRF4 TRIM22 ZNF341 EBF1 SMC3 RAD21 ZBTB48 RB1 TTC12 NCAM1-AS1 ENSG00000255129 NCAM1
GH11J113872 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 14.9 +560.2 560224 4.8 TBP FEZF1 MNT SMAD5 IRF2 HES1 ZFP64 MBD2 POLR2A BHLHE40 USP28 lnc-HTR3B-3 ENSG00000270179 RBM7 NXPE4 TTC12 ZW10 NXPE1 LRRC37A13P RF00066-041
GH11J112960 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -351.9 -351889 3.8 ZSCAN16 CHD2 ZBTB10 FEZF1 ZEB1 ZIC2 ZNF610 SIN3A ZNF639 KLF7 NCAM1 LOC101928847 ENSG00000270179 NKAPD1 ZW10 TTC12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTC12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTC12

Top Transcription factor binding sites by QIAGEN in the TTC12 gene promoter:
  • ATF
  • E47
  • En-1
  • Hand1
  • HNF-4alpha1
  • ISGF-3
  • POU2F1
  • POU2F1a
  • SRY
  • TGIF

Genomic Locations for TTC12 Gene

Latest Assembly
chr11:113,314,569-113,385,952
(GRCh38/hg38)
Size:
71,384 bases
Orientation:
Plus strand

Previous Assembly
chr11:113,185,305-113,244,019
(GRCh37/hg19 by Entrez Gene)
Size:
58,715 bases
Orientation:
Plus strand

chr11:113,185,251-113,254,266
(GRCh37/hg19 by Ensembl)
Size:
69,016 bases
Orientation:
Plus strand

Genomic View for TTC12 Gene

Genes around TTC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TTC12 Gene

Proteins for TTC12 Gene

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  • Protein details for TTC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H892-TTC12_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 12
    Protein Accession:
    Q9H892
    Secondary Accessions:
    • Q8N5H9
    • Q9NWY3

    Protein attributes for TTC12 Gene

    Size:
    705 amino acids
    Molecular mass:
    78756 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91242.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for TTC12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC12 Gene

Protein Expression for TTC12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TTC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTC12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for TTC12 Gene

Domains & Families for TTC12 Gene

Gene Families for TTC12 Gene

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

Protein Domains for TTC12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTC12 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78626 (A8K8G6_HUMAN)
  • Tetratricopeptide repeat protein 12 variant 1 (B0YJB4_HUMAN)
  • Tetratricopeptide repeat protein 12 (TTC12_HUMAN)
genes like me logo Genes that share domains with TTC12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TTC12 Gene

Function for TTC12 Gene

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  6. Cell Lines for research

Molecular function for TTC12 Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella.

Phenotypes From GWAS Catalog for TTC12 Gene

Gene Ontology (GO) - Molecular Function for TTC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with TTC12: view
genes like me logo Genes that share phenotypes with TTC12: view

Human Phenotype Ontology for TTC12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for TTC12 Gene

miRTarBase miRNAs that target TTC12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC12

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC12 Gene

Localization for TTC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC12 Gene

Cytoplasm.

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 TTC12 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
extracellular 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TTC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 31978331
GO:0005813 centrosome IDA 23300604
genes like me logo Genes that share ontologies with TTC12: view

Pathways & Interactions for TTC12 Gene

PathCards logo

SuperPathways for TTC12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007288 sperm axoneme assembly IMP 31978331
GO:0030030 cell projection organization IEA --
GO:0070286 axonemal dynein complex assembly IMP 31978331
genes like me logo Genes that share ontologies with TTC12: view

No data available for Pathways by source and SIGNOR curated interactions for TTC12 Gene

Drugs & Compounds for TTC12 Gene

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No Compound Related Data Available

Transcripts for TTC12 Gene

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mRNA/cDNA for TTC12 Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC12

Alternative Splicing Database (ASD) splice patterns (SP) for TTC12 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7: - - - -
SP8: - -
SP9:
SP10:

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for TTC12 Gene

GeneLoc Exon Structure for
TTC12

Expression for TTC12 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTC12 Gene

mRNA expression in normal human tissues for TTC12 Gene
mRNA expression by BioGPS for TTC12 GenemRNA expression by GTEx for TTC12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTC12 Gene

This gene is overexpressed in Testis (x5.4).

Protein differential expression in normal tissues from HIPED for TTC12 Gene

This gene is overexpressed in Bone (23.9), Ovary (14.2), Plasma (12.8), and Rectum (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TTC12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTC12

SOURCE GeneReport for Unigene cluster for TTC12 Gene:

Hs.288772

mRNA Expression by UniProt/SwissProt for TTC12 Gene:

Q9H892-TTC12_HUMAN
Tissue specificity: Expressed in testis and in epithelial cells of trachea and bronchial tube.

Evidence on tissue expression from TISSUES for TTC12 Gene

  • Blood(4.3)
  • Thyroid gland(4.2)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with TTC12: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC12 Gene

Orthologs for TTC12 Gene

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

Orthologs for TTC12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TTC12 30 31
  • 99.1 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TTC12 30 31
  • 84.17 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TTC12 30 31
  • 83.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ttc12 30
  • 81.16 (n)
Mouse
(Mus musculus)
 Mammalia Ttc12 30 17 31
  • 80.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TTC12 31
  • 63 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 58 (a)
 OneToMany
-- 31
  • 52 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves TTC12 30 31
  • 60.19 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TTC12 31
  • 44 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ttc12 30
  • 57.15 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ttc12 30 31
  • 53.49 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG34297 31
  • 22 (a)
 OneToMany
CG6980 31
  • 22 (a)
 OneToMany
CG31294 31
  • 20 (a)
 OneToMany
CG34274 31
  • 17 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SGT2 31
  • 15 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 31 (a)
 OneToOne
Species where no ortholog for TTC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for TTC12 Gene

ENSEMBL:
Gene Tree for TTC12 (if available)
TreeFam:
Gene Tree for TTC12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTC12: view image

Paralogs for TTC12 Gene

Paralogs for TTC12 Gene

(1) SIMAP similar genes for TTC12 Gene using alignment to 16 proteins:

  • TTC12_HUMAN
  • A8K8G6_HUMAN
  • A8MTE9_HUMAN
  • B0YJB4_HUMAN
  • C9J1D2_HUMAN
  • C9JPY5_HUMAN
  • C9JYU1_HUMAN
  • E9PIB6_HUMAN
  • E9PIS6_HUMAN
  • E9PJI9_HUMAN
  • E9PKU6_HUMAN
  • E9PP06_HUMAN
  • H0YDB4_HUMAN
  • H0YEF6_HUMAN
  • J3KR69_HUMAN
  • L8ECH5_HUMAN
genes like me logo Genes that share paralogs with TTC12: view

Variants for TTC12 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTC12 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs201244916 Pathogenic: Ciliary dyskinesia, primary, 45 113,362,464(+) C/T
NM_017868.4(TTC12):c.1678C>T (p.Arg560Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
rs372955658 Pathogenic: Ciliary dyskinesia, primary, 45 113,362,486(+) T/G
NM_017868.4(TTC12):c.1700T>G (p.Met567Arg) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs781864891 Pathogenic: Ciliary dyskinesia, primary, 45 113,338,801(+) GA/G
NM_017868.4(TTC12):c.607del (p.Glu202_Ile203insTer) 		NONSENSE,NON_CODING_TRANSCRIPT
rs782603932 Pathogenic: Ciliary dyskinesia, primary, 45 113,360,011(+) A/T
NM_017868.4(TTC12):c.1614+3A>T 		INTRON
VAR_083925 Ciliary dyskinesia, primary, 45 (CILD45) [MIM:618801] p.Met567Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTC12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TTC12 Gene

Variant ID Type Subtype PubMed ID
nsv483080 CNV loss 15286789
nsv556444 CNV gain 21841781

Variation tolerance for TTC12 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC12 Gene

Disorders for TTC12 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TTC12 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TTC12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTC12_HUMAN
  • Ciliary dyskinesia, primary, 45 (CILD45) [MIM:618801]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. {ECO:0000269 PubMed:31978331}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TTC12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TTC12: view

No data available for Genatlas for TTC12 Gene

Publications for TTC12 Gene

  1. Identification and characterization of TPARM gene in silico. (PMID: 12964006) Katoh M … Katoh M (International journal of oncology 2003) 2 3 23
  2. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. (PMID: 31978331) Thomas L … Legendre M (American journal of human genetics 2020) 3 4
  3. Haplotypic variants in DRD2, ANKK1, TTC12, and NCAM1 are associated with comorbid alcohol and drug dependence. (PMID: 18828801) Yang BZ … Gelernter J (Alcoholism, clinical and experimental research 2008) 3 41
  4. Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples. (PMID: 17761687) Yang BZ … Gelernter J (Human molecular genetics 2007) 3 41
  5. Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations. (PMID: 17085484) Gelernter J … Farrer L (Human molecular genetics 2006) 3 41

ExternalLinks

View latest publications for TTC12 gene in Mastermind

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