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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 Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. 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
GH03F196078 0.6 ENCODE 14 +237.3 237318 4.5 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 MUC4 ACAP2 TCTEX1D2 ENSG00000237418 NCBP2 UBXN7 MIR570 ENSG00000230732 MUC20 LINC00969
GH03F196057 0.5 ENCODE 14 +259.8 259847 2.3 PTRF GLI4 RFX5 ZEB1 SCRT2 ZNF207 MCM3 SMAD5 ZBTB2 MCM5 TCTEX1D2 ENSG00000237418 NCBP2 UBXN7-AS1 LINC00969 PCYT1A ENSG00000231443 GC03M196053 PIR52447
GH03F196316 0.4 ENCODE 12.5 +0.2 219 2.8 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 ZNF548 MCM3 SDHAP2 LINC00969 UBXN7 RNU6ATAC24P RNF168 TM4SF19 PCYT1A ENSG00000226345 RPS29P3 ENSG00000213358
GH03F196272 1.6 FANTOM5 Ensembl ENCODE 9.1 +44.3 44267 3.2 TBP HDAC1 PKNOX1 CBX3 ATF1 CREB3L1 ZBTB40 YY1 CBX5 FOS PCYT1A TM4SF19 ENSG00000228028 RNU6-910P TCTEX1D2 RNF168 NRROS UBXN7
GH03F196342 1 Ensembl ENCODE 6.6 -24.9 -24865 1.7 PKNOX1 E2F1 GATA3 CTBP1 POLR2A FOS TCF7L2 RFX1 ZNF687 HCFC1 SLC51A TCTEX1D2 TM4SF19 PCYT1A SDHAP1 GC03M196342 RNU6-910P RNU6-1279P GC03M196394
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001383799 399 2201 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 ZNF548 MCM3

Genomic Location for TCTEX1D2 Gene

Chromosome:
3
Start:
196,291,219 bp from pter
End:
196,318,299 bp from pter
Size:
27,081 bases
Orientation:
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:
    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:
    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

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

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

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

COMPARTMENTS
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

None

No data available for SIGNOR curated interactions for TCTEX1D2 Gene

Transcripts for TCTEX1D2 Gene

Unigene Clusters for TCTEX1D2 Gene

Tctex1 domain containing 2:
Representative Sequences:

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
TCTEX1D2
ECgene alternative splicing isoforms for
TCTEX1D2

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:

TCTEX1D2

SOURCE GeneReport for Unigene cluster for TCTEX1D2 Gene:

Hs.733180
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
chimpanzee
(Pan troglodytes)
Mammalia TCTEX1D2 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
ManyToMany
TCTEX1D2 34
  • 93.97 (n)
-- 35
  • 82 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia TCTEX1D2 34 35
  • 91.13 (n)
rat
(Rattus norvegicus)
Mammalia Tctex1d2 34
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Tctex1d2 34 16 35
  • 85.45 (n)
chicken
(Gallus gallus)
Aves TCTEX1D2 34
  • 74.14 (n)
-- 35
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tctex1d2 34
  • 71.51 (n)
zebrafish
(Danio rerio)
Actinopterygii tctex1d2 34 35
  • 64.66 (n)
Dr.18782 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5883 34
fruit fly
(Drosophila melanogaster)
Insecta CG5359 35
  • 27 (a)
ManyToMany
CG7276 35
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dylt-2 35
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8237 34
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 Sequence Context AA Info Type
rs10571514 -- 196,320,128(+) AAAAA(-/A)TTCTG intron-variant, upstream-variant-2KB
rs111311249 -- 196,300,809(+) CTTGG(A/G)CACTT intron-variant
rs111351270 -- 196,291,115(+) AGAGA(-/CA)GAGAG downstream-variant-500B
rs111443825 -- 196,317,416(+) GATCT(C/T)ACAAA intron-variant, nc-transcript-variant, upstream-variant-2KB
rs111458416 -- 196,315,507(+) CCACC(C/T)GCCTC 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)
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

(2) MalaCards diseases for TCTEX1D2 Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
short-rib thoracic dysplasia 1 with or without polydactyly
  • asphyxiating thoracic dystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TCTEX1D2

Human Genome Epidemiology (HuGE) Navigator
TCTEX1D2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCTEX1D2
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 64
  2. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K. … Roepman R. (Nat Commun 2016) 3 64
  3. 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 64
  4. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 26044572) Schmidts M. … Witman G.B. (Nat Commun 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TCTEX1D2 Gene

Sources for TCTEX1D2 Gene

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