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Aliases for TVP23C-CDRT4 Gene

Aliases for TVP23C-CDRT4 Gene

  • TVP23C-CDRT4 Readthrough 2 3 5
  • FAM18B2-CDRT4 Readthrough 2 3
  • Uncharacterized Protein LOC100533496 3
  • FAM18B2-CDRT4 3

External Ids for TVP23C-CDRT4 Gene

Previous HGNC Symbols for TVP23C-CDRT4 Gene

  • FAM18B2-CDRT4

Previous GeneCards Identifiers for TVP23C-CDRT4 Gene

  • GC17M015342
  • GC17M015345
  • GC17M015352

Summaries for TVP23C-CDRT4 Gene

Entrez Gene Summary for TVP23C-CDRT4 Gene

  • This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014]

GeneCards Summary for TVP23C-CDRT4 Gene

TVP23C-CDRT4 (TVP23C-CDRT4 Readthrough) is a Protein Coding gene. An important paralog of this gene is TVP23C.

Additional gene information for TVP23C-CDRT4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TVP23C-CDRT4 Gene

Genomics for TVP23C-CDRT4 Gene

GeneHancer (GH) Regulatory Elements for TVP23C-CDRT4 Gene

Promoters and enhancers for TVP23C-CDRT4 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
GH17I015562 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.1 130 1.8 ATF1 NFRKB ARID4B KLF17 SIN3A ZNF76 DMAP1 ZBTB40 ZNF48 ZSCAN9 TVP23C TVP23C-CDRT4 CDRT4 ENSG00000266538
GH17I015490 Enhancer 1.4 FANTOM5 Ensembl ENCODE 0.2 +72.3 72344 2.3 ATF1 TCF12 CBX5 GATA2 FOS ATF7 NCOA1 ZNF592 SMARCA4 MYNN PIR44743 GC17M015492 CDRT4 PMP22 ENSG00000230971 ENSG00000237377 TVP23C CDRT1 PIR38416 TVP23C-CDRT4
GH17I015467 Promoter/Enhancer 1 EPDnew ENCODE 0.2 +94.9 94856 2.4 GLIS1 RCOR1 ATF2 ZKSCAN1 CDRT4 PIR54188 GC17M015467 TVP23C PIR38416 TVP23C-CDRT4
GH17I015501 Enhancer 0.9 Ensembl ENCODE 0.2 +60.9 60911 1.7 HDGF CTCF RAD21 CC2D1A ZNF366 ARID2 VEZF1 ZNF143 SMC3 ZNF444 CDRT4 GC17P015505 PIR39895 ENSG00000237377 ENSG00000230971 PMP22 TEKT3 TVP23C CDRT1 PIR44743
GH17I015462 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.2 +100.0 99954 2.3 ZNF335 ZNF146 ZSCAN5C ZNF133 PRDM10 CDRT4 PIR54188 GC17P015444 TVP23C-CDRT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TVP23C-CDRT4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TVP23C-CDRT4 Gene

Genomic Locations for TVP23C-CDRT4 Gene
chr17:15,436,015-15,563,631
(GRCh38/hg38)
Size:
127,617 bases
Orientation:
Minus strand
chr17:15,339,332-15,466,945
(GRCh37/hg19)

Genomic View for TVP23C-CDRT4 Gene

Genes around TVP23C-CDRT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TVP23C-CDRT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TVP23C-CDRT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TVP23C-CDRT4 Gene

Proteins for TVP23C-CDRT4 Gene

  • Protein details for TVP23C-CDRT4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A0A6YYB9
    Recommended name:
    Golgi apparatus membrane protein TVP23 homolog
    Protein Accession:
    A0A0A6YYB9

    Protein attributes for TVP23C-CDRT4 Gene

    Size:
    164 amino acids
    Molecular mass:
    19015 Da
    Quaternary structure:
    No Data Available
  • Protein details for TVP23C-CDRT4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    E5RGC5
    Recommended name:
    Golgi apparatus membrane protein TVP23 homolog C
    Protein Accession:
    E5RGC5

    Protein attributes for TVP23C-CDRT4 Gene

    Size:
    53 amino acids
    Molecular mass:
    6152 Da
    Quaternary structure:
    No Data Available
  • Protein details for TVP23C-CDRT4 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    E5RIS5
    Recommended name:
    Golgi apparatus membrane protein TVP23 homolog B
    Protein Accession:
    E5RIS5
    Secondary Accessions:
    • D6R9A3

    Protein attributes for TVP23C-CDRT4 Gene

    Size:
    37 amino acids
    Molecular mass:
    4314 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TVP23C-CDRT4 Gene

Post-translational modifications for TVP23C-CDRT4 Gene

No Post-translational modifications

Other Protein References for TVP23C-CDRT4 Gene

No data available for DME Specific Peptides for TVP23C-CDRT4 Gene

Domains & Families for TVP23C-CDRT4 Gene

Gene Families for TVP23C-CDRT4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TVP23C-CDRT4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TVP23C-CDRT4: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TVP23C-CDRT4 Gene

Function for TVP23C-CDRT4 Gene

Phenotypes From GWAS Catalog for TVP23C-CDRT4 Gene

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TVP23C-CDRT4 Gene

Localization for TVP23C-CDRT4 Gene

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TVP23C-CDRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TVP23C-CDRT4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for TVP23C-CDRT4 Gene

Pathways & Interactions for TVP23C-CDRT4 Gene

SuperPathways for TVP23C-CDRT4 Gene

No Data Available

Interacting Proteins for TVP23C-CDRT4 Gene

Gene Ontology (GO) - Biological Process for TVP23C-CDRT4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TVP23C-CDRT4 Gene

Drugs & Compounds for TVP23C-CDRT4 Gene

No Compound Related Data Available

Transcripts for TVP23C-CDRT4 Gene

mRNA/cDNA for TVP23C-CDRT4 Gene

(1) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for TVP23C-CDRT4 Gene

No ASD Table

Relevant External Links for TVP23C-CDRT4 Gene

GeneLoc Exon Structure for
TVP23C-CDRT4
ECgene alternative splicing isoforms for
TVP23C-CDRT4

Expression for TVP23C-CDRT4 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TVP23C-CDRT4 Gene

Orthologs for TVP23C-CDRT4 Gene

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

Orthologs for TVP23C-CDRT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TVP23B 33
  • 92.68 (n)
FAM18B1 34
  • 74 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM18B1 34
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 62 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii tvp23b 34
  • 52 (a)
ManyToMany
zgc:112148 34
  • 47 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5021 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C34D4.4 34
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TVP23 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4306 34
  • 38 (a)
OneToMany
Species where no ortholog for TVP23C-CDRT4 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TVP23C-CDRT4 Gene

ENSEMBL:
Gene Tree for TVP23C-CDRT4 (if available)
TreeFam:
Gene Tree for TVP23C-CDRT4 (if available)

Paralogs for TVP23C-CDRT4 Gene

Paralogs for TVP23C-CDRT4 Gene

genes like me logo Genes that share paralogs with TVP23C-CDRT4: view

Variants for TVP23C-CDRT4 Gene

Sequence variations from dbSNP and Humsavar for TVP23C-CDRT4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000026878 -- 15,515,760(-) T/C intron_variant
rs1000028694 -- 15,561,426(-) C/G intron_variant
rs1000048891 -- 15,488,452(-) G/T intron_variant
rs1000080689 -- 15,482,334(-) G/A intron_variant
rs1000106285 -- 15,479,367(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TVP23C-CDRT4 Gene

Variant ID Type Subtype PubMed ID
dgv1694e59 CNV duplication 20981092
esv2346287 CNV deletion 18987734
esv3554192 CNV deletion 23714750
esv3640070 CNV loss 21293372
esv3640071 CNV gain 21293372
esv3640072 CNV loss 21293372
esv3640073 CNV gain 21293372
esv3640075 CNV loss 21293372
esv3892964 CNV gain 25118596
esv4023 CNV loss 18987735
nsv1070392 CNV deletion 25765185
nsv1992 CNV insertion 18451855
nsv457695 CNV gain 19166990
nsv574462 CNV gain 21841781
nsv960057 CNV duplication 23825009
nsv960417 CNV duplication 23825009
nsv960418 CNV duplication 23825009
nsv962260 CNV duplication 23825009
nsv978367 CNV duplication 23825009

Variation tolerance for TVP23C-CDRT4 Gene

Residual Variation Intolerance Score: 68.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TVP23C-CDRT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TVP23C-CDRT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TVP23C-CDRT4 Gene

Disorders for TVP23C-CDRT4 Gene

Additional Disease Information for TVP23C-CDRT4

No disorders were found for TVP23C-CDRT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TVP23C-CDRT4 Gene

Publications for TVP23C-CDRT4 Gene

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 58

Products for TVP23C-CDRT4 Gene

Sources for TVP23C-CDRT4 Gene

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