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Aliases for TCTEX1D2 Gene

Aliases for TCTEX1D2 Gene

  • Tctex1 Domain Containing 2 2 3 5

External Ids for TCTEX1D2 Gene

Previous GeneCards Identifiers for TCTEX1D2 Gene

  • GC03M197502
  • GC03M195975
  • GC03M193315
  • GC03M196019

Summaries for TCTEX1D2 Gene

GeneCards Summary for TCTEX1D2 Gene

TCTEX1D2 (Tctex1 Domain Containing 2) is a Protein Coding gene. Diseases associated with TCTEX1D2 include Asphyxiating Thoracic Dystrophy. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. An important paralog of this gene is ENSG00000272741.

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 TCTEX1D2 Gene

Genomics for TCTEX1D2 Gene

Regulatory Elements for TCTEX1D2 Gene

Enhancers for TCTEX1D2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TCTEX1D2 on UCSC Golden Path with GeneCards custom track

Promoters for TCTEX1D2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TCTEX1D2 Gene

196,291,219 bp from pter
196,318,299 bp from pter
27,081 bases
Minus strand

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

    Protein attributes for TCTEX1D2 Gene

    142 amino acids
    Molecular mass:
    16122 Da
    Quaternary structure:
    No Data Available

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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCTEX1D2 Gene

Domains & Families for TCTEX1D2 Gene

Protein Domains for TCTEX1D2 Gene


Suggested Antigen Peptide Sequences for TCTEX1D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

No data available for Gene Families for TCTEX1D2 Gene

Function 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
genes like me logo Genes that share ontologies with TCTEX1D2: view
genes like me logo Genes that share phenotypes with TCTEX1D2: view

Animal Models for TCTEX1D2 Gene

MGI Knock Outs for TCTEX1D2:

Animal Model Products

CRISPR Products

miRNA for TCTEX1D2 Gene

miRTarBase miRNAs that target TCTEX1D2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TCTEX1D2 Gene

Localization for TCTEX1D2 Gene

Subcellular locations from

Jensen Localization Image for TCTEX1D2 Gene COMPARTMENTS Subcellular localization image for TCTEX1D2 gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1

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


No data available for SIGNOR curated interactions for TCTEX1D2 Gene

Drugs & Compounds for TCTEX1D2 Gene

No Compound Related Data Available

Transcripts for TCTEX1D2 Gene

mRNA/cDNA for TCTEX1D2 Gene

Unigene Clusters for TCTEX1D2 Gene

Tctex1 domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TCTEX1D2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TCTEX1D2 Gene

mRNA expression in normal human tissues 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:


SOURCE GeneReport for Unigene cluster for TCTEX1D2 Gene:

genes like me logo Genes that share expression patterns with TCTEX1D2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
(Bos Taurus)
Mammalia TCTEX1D2 34
  • 91.13 (n)
  • 91.37 (a)
  • 85 (a)
(Canis familiaris)
Mammalia TCTEX1D2 34
  • 93.97 (n)
  • 96.19 (a)
-- 35
  • 96 (a)
-- 35
  • 82 (a)
(Mus musculus)
Mammalia Tctex1d2 34
  • 85.45 (n)
  • 85.21 (a)
Tctex1d2 16
Tctex1d2 35
  • 84 (a)
(Pan troglodytes)
Mammalia TCTEX1D2 34
  • 100 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Tctex1d2 34
  • 86.85 (n)
  • 85.21 (a)
(Gallus gallus)
Aves TCTEX1D2 34
  • 74.14 (n)
  • 76.72 (a)
-- 35
  • 72 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tctex1d2 34
  • 71.51 (n)
  • 76.07 (a)
(Danio rerio)
Actinopterygii Dr.18782 34
tctex1d2 34
  • 64.66 (n)
  • 60.34 (a)
tctex1d2 35
  • 51 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5883 34
fruit fly
(Drosophila melanogaster)
Insecta CG5359 35
  • 27 (a)
CG7276 35
  • 27 (a)
(Caenorhabditis elegans)
Secernentea dylt-2 35
  • 35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8237 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
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

Gene Tree for TCTEX1D2 (if available)
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 Sequence Context AA Info Type
rs6775861 -- 196,292,341(+) AAGTA(C/T)CTGAT intron-variant
rs6778879 -- 196,296,514(+) CTCCA(A/G)AAATA intron-variant
rs6779233 -- 196,296,852(+) caggg(A/C)tgtag intron-variant
rs9835520 -- 196,312,584(+) ctccc(A/C)agtag intron-variant
rs2649741 -- 196,300,758(+) TAGAA(A/C)CAAGG intron-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)

Relevant External Links for TCTEX1D2 Gene

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

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

Disorders for TCTEX1D2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TCTEX1D2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
asphyxiating thoracic dystrophy
  • ataxia telangiectasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TCTEX1D2

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TCTEX1D2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCTEX1D2 Gene

Publications for TCTEX1D2 Gene

  1. Subunit composition of the human cytoplasmic dynein-2 complex. (PMID: 25205765) Asante D. … Stephens D.J. (J. Cell. Sci. 2014) 2 3 65
  2. Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. (PMID: 25830415) Gholkar A.A. … Torres J.Z. (Cell Cycle 2015) 3 65
  3. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 26044572) Schmidts M. … Witman G.B. (Nat Commun 2015) 3 65
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 65

Products for TCTEX1D2 Gene

Sources for TCTEX1D2 Gene

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