Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TCTEX1D2 Gene

Aliases for TCTEX1D2 Gene

  • Tctex1 Domain Containing 2 2 3 5
  • Tctex1 Domain-Containing Protein 2 3
  • SRTD17 3

External Ids for TCTEX1D2 Gene

Previous GeneCards Identifiers for TCTEX1D2 Gene

  • GC03M197502
  • GC03M195975
  • GC03M193315
  • GC03M196019

Summaries for TCTEX1D2 Gene

Entrez Gene Summary for TCTEX1D2 Gene

  • Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

GeneCards Summary for TCTEX1D2 Gene

TCTEX1D2 (Tctex1 Domain Containing 2) is a Protein Coding gene. Diseases associated with TCTEX1D2 include Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is ENSG00000272741.

UniProtKB/Swiss-Prot for TCTEX1D2 Gene

  • Required for proper retrograde ciliary transport.

Additional gene information for TCTEX1D2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCTEX1D2 Gene

Genomics for TCTEX1D2 Gene

GeneHancer (GH) Regulatory Elements for TCTEX1D2 Gene

Promoters and enhancers for TCTEX1D2 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
GH03I196316 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562.5 +0.2 218 2.8 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B E2F8 ZNF143 ZNF207 TCTEX1D2 TM4SF19-AS1 ENSG00000272741 SDHAP1 SDHAP2 UBXN7 LINC00969 RNU6ATAC24P RNF168 ENSG00000271662
GH03I196567 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.4 -250.5 -250490 2.6 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 FBXO45 WDR53 SDHAP2 SDHAP1 RNF168 LINC00969 MIR570 CEP19 LINC01063 NCBP2
GH03I196629 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 5.5 -314.2 -314192 6.2 HDGF PKNOX1 SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 POLR2B ZNF766 LINC01063 NRROS CEP19 TCTEX1D2 SDHAP1 WDR53
GH03I196272 Enhancer 1.1 FANTOM5 ENCODE 9.1 +44.3 44267 3.2 HDAC1 PKNOX1 ATF1 TAF9B NFIB SIN3A ZBTB40 BATF FOS ATF7 PCYT1A TM4SF19 ENSG00000228028 RNU6-910P TCTEX1D2 RNF168 NRROS UBXN7 ENSG00000272741 GC03P196178
GH03I196619 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -302.3 -302302 3.2 HDAC1 PKNOX1 BATF IRF4 SCRT2 ETV6 ATF7 BCLAF1 IKZF2 RUNX3 NRROS LINC01063 TCTEX1D2 SENP5 PCYT1A RNF168 WDR53
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TCTEX1D2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCTEX1D2 gene promoter:

Genomic Locations for TCTEX1D2 Gene

Genomic Locations for TCTEX1D2 Gene
chr3:196,291,219-196,318,299
(GRCh38/hg38)
Size:
27,081 bases
Orientation:
Minus strand
chr3:196,018,090-196,045,170
(GRCh37/hg19)

Genomic View for TCTEX1D2 Gene

Genes around TCTEX1D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCTEX1D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCTEX1D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCTEX1D2 Gene

Proteins for TCTEX1D2 Gene

  • Protein details for TCTEX1D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WW35-TC1D2_HUMAN
    Recommended name:
    Tctex1 domain-containing protein 2
    Protein Accession:
    Q8WW35
    Secondary Accessions:
    • A6NCN5

    Protein attributes for TCTEX1D2 Gene

    Size:
    142 amino acids
    Molecular mass:
    16122 Da
    Quaternary structure:
    • Interacts with WDR60.

neXtProt entry for TCTEX1D2 Gene

Post-translational modifications for TCTEX1D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCTEX1D2 Gene

No data available for DME Specific Peptides for TCTEX1D2 Gene

Domains & Families for TCTEX1D2 Gene

Gene Families for TCTEX1D2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TCTEX1D2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TCTEX1D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WW35

UniProtKB/Swiss-Prot:

TC1D2_HUMAN :
  • Belongs to the dynein light chain Tctex-type family.
Family:
  • Belongs to the dynein light chain Tctex-type family.
genes like me logo Genes that share domains with TCTEX1D2: view

Function for TCTEX1D2 Gene

Molecular function for TCTEX1D2 Gene

UniProtKB/Swiss-Prot Function:
Required for proper retrograde ciliary transport.

Phenotypes From GWAS Catalog for TCTEX1D2 Gene

Gene Ontology (GO) - Molecular Function for TCTEX1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
GO:0045505 dynein intermediate chain binding IPI 25830415
genes like me logo Genes that share ontologies with TCTEX1D2: view
genes like me logo Genes that share phenotypes with TCTEX1D2: view

Human Phenotype Ontology for TCTEX1D2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCTEX1D2 Gene

MGI Knock Outs for TCTEX1D2:

Animal Model Products

miRNA for TCTEX1D2 Gene

miRTarBase miRNAs that target TCTEX1D2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TCTEX1D2 Gene

Localization for TCTEX1D2 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 TCTEX1D2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
extracellular 2
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TCTEX1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 colocalizes_with spindle pole IDA 25830415
GO:0005813 colocalizes_with centrosome IDA 25830415
GO:0005868 cytoplasmic dynein complex IDA 25205765
GO:0005930 colocalizes_with axoneme IDA 25830415
GO:0031021 colocalizes_with interphase microtubule organizing center IDA 25830415
genes like me logo Genes that share ontologies with TCTEX1D2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TCTEX1D2 Gene

Pathways & Interactions for TCTEX1D2 Gene

genes like me logo Genes that share pathways with TCTEX1D2: view

Pathways by source for TCTEX1D2 Gene

Gene Ontology (GO) - Biological Process for TCTEX1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060271 cilium assembly IMP 25830415
GO:1902017 regulation of cilium assembly IMP 25205765
GO:1905799 regulation of intraciliary retrograde transport IMP 26044572
genes like me logo Genes that share ontologies with TCTEX1D2: view

No data available for SIGNOR curated interactions for TCTEX1D2 Gene

Drugs & Compounds for TCTEX1D2 Gene

No Compound Related Data Available

Transcripts for TCTEX1D2 Gene

Unigene Clusters for TCTEX1D2 Gene

Tctex1 domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCTEX1D2 Gene

No ASD Table

Relevant External Links for TCTEX1D2 Gene

GeneLoc Exon Structure for
TCTEX1D2
ECgene alternative splicing isoforms for
TCTEX1D2

Expression for TCTEX1D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCTEX1D2 Gene

Protein differential expression in normal tissues from HIPED for TCTEX1D2 Gene

This gene is overexpressed in Fetal ovary (27.2), Ovary (24.8), and Testis (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TCTEX1D2 Gene



Protein tissue co-expression partners for TCTEX1D2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TCTEX1D2 Gene:

TCTEX1D2

SOURCE GeneReport for Unigene cluster for TCTEX1D2 Gene:

Hs.733180

Evidence on tissue expression from TISSUES for TCTEX1D2 Gene

  • Nervous system(4.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with TCTEX1D2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCTEX1D2 Gene

Orthologs for TCTEX1D2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCTEX1D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCTEX1D2 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
ManyToMany
TCTEX1D2 33
  • 93.97 (n)
-- 34
  • 82 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia TCTEX1D2 33 34
  • 91.13 (n)
rat
(Rattus norvegicus)
Mammalia Tctex1d2 33
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Tctex1d2 33 16 34
  • 85.45 (n)
chicken
(Gallus gallus)
Aves TCTEX1D2 33
  • 74.14 (n)
-- 34
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tctex1d2 33
  • 71.51 (n)
zebrafish
(Danio rerio)
Actinopterygii tctex1d2 33 34
  • 64.66 (n)
Dr.18782 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5883 33
fruit fly
(Drosophila melanogaster)
Insecta CG5359 34
  • 27 (a)
ManyToMany
CG7276 34
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dylt-2 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8237 33
Species where no ortholog for TCTEX1D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 TCTEX1D2 Gene

ENSEMBL:
Gene Tree for TCTEX1D2 (if available)
TreeFam:
Gene Tree for TCTEX1D2 (if available)

Paralogs for TCTEX1D2 Gene

Paralogs for TCTEX1D2 Gene

(14) SIMAP similar genes for TCTEX1D2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TCTEX1D2: view

Variants for TCTEX1D2 Gene

Sequence variations from dbSNP and Humsavar for TCTEX1D2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1056574154 pathogenic, Short-rib thoracic dysplasia 17 with or without polydactyly 196,318,038(-) G/C splice_donor_variant
rs1060505043 pathogenic, Short-rib thoracic dysplasia 17 with or without polydactyly 196,318,053(-) C/AG coding_sequence_variant, frameshift
rs771373235 pathogenic, Short-rib thoracic dysplasia 17 with or without polydactyly 196,306,998(-) G/A coding_sequence_variant, stop_gained
rs886039815 pathogenic, Short-rib thoracic dysplasia 3 with or without polydactyly 196,306,939(-) T/A intron_variant
rs1000234732 -- 196,319,988(-) T/A/C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TCTEX1D2 Gene

Variant ID Type Subtype PubMed ID
esv2759213 CNV gain+loss 17122850
esv3389071 CNV duplication 20981092
esv3407163 CNV duplication 20981092
esv3599276 CNV loss 21293372
esv3599277 CNV gain 21293372
nsv1009811 CNV gain 25217958
nsv1123731 CNV deletion 24896259
nsv1135926 CNV deletion 24896259
nsv1136799 CNV deletion 24896259
nsv4183 CNV deletion 18451855
nsv593071 CNV gain 21841781
nsv997797 CNV gain 25217958

Variation tolerance for TCTEX1D2 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCTEX1D2 Gene

Human Gene Mutation Database (HGMD)
TCTEX1D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCTEX1D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCTEX1D2 Gene

Disorders for TCTEX1D2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TCTEX1D2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TC1D2_HUMAN
  • Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) [MIM:617405]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:26044572}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TCTEX1D2

genes like me logo Genes that share disorders with TCTEX1D2: view

No data available for Genatlas for TCTEX1D2 Gene

Publications for TCTEX1D2 Gene

  1. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 26044572) Schmidts M … Witman GB (Nature communications 2015) 3 4 58
  2. Subunit composition of the human cytoplasmic dynein-2 complex. (PMID: 25205765) Asante D … Stephens DJ (Journal of cell science 2014) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 27021811) Schmidts M … Witman GB (Nature communications 2016) 4 58

Products for TCTEX1D2 Gene

Sources for TCTEX1D2 Gene

Content
Loading form....