Aliases for TVP23C Gene

Aliases for TVP23C Gene

  • Trans-Golgi Network Vesicle Protein 23 Homolog C 2 3 5
  • Golgi Apparatus Membrane Protein TVP23 Homolog C 3 4
  • Family With Sequence Similarity 18, Member B2 2 3
  • FAM18B2 3 4
  • Trans-Golgi Network Vesicle Protein 23 Homolog C (S. Cerevisiae) 2
  • Protein FAM18B2 3

External Ids for TVP23C Gene

Previous HGNC Symbols for TVP23C Gene

  • FAM18B2

Previous GeneCards Identifiers for TVP23C Gene

  • GC17M015343
  • GC17M015349
  • GC17M015353

Summaries for TVP23C Gene

GeneCards Summary for TVP23C Gene

TVP23C (Trans-Golgi Network Vesicle Protein 23 Homolog C) is a Protein Coding gene. Diseases associated with TVP23C include Podoconiosis and Elephantiasis. An important paralog of this gene is TVP23B.

Additional gene information for TVP23C Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TVP23C Gene

Genomics for TVP23C Gene

GeneHancer (GH) Regulatory Elements for TVP23C Gene

Promoters and enhancers for TVP23C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TVP23C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TVP23C

Genomic Locations for TVP23C Gene

Genomic Locations for TVP23C Gene
chr17:15,502,264-15,563,631
(GRCh38/hg38)
Size:
61,368 bases
Orientation:
Minus strand
chr17:15,341,205-15,466,945
(GRCh37/hg19)
Size:
125,741 bases
Orientation:
Minus strand

Genomic View for TVP23C Gene

Genes around TVP23C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TVP23C 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 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TVP23C Gene

Proteins for TVP23C Gene

  • Protein details for TVP23C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ET8-TV23C_HUMAN
    Recommended name:
    Golgi apparatus membrane protein TVP23 homolog C
    Protein Accession:
    Q96ET8
    Secondary Accessions:
    • Q3LIC7

    Protein attributes for TVP23C Gene

    Size:
    276 amino acids
    Molecular mass:
    31105 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TVP23C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TVP23C Gene

Post-translational modifications for TVP23C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TVP23C Gene

Domains & Families for TVP23C Gene

Gene Families for TVP23C Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TVP23C Gene

Blocks:
  • Eukaryotic protein of unknown function DUF846
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TVP23C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53614, highly similar to Protein FAM18B (B4E0Q0_HUMAN)
  • Protein FAM18B2 (F18B2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96ET8

UniProtKB/Swiss-Prot:

TV23C_HUMAN :
  • Belongs to the TVP23 family.
Family:
  • Belongs to the TVP23 family.
genes like me logo Genes that share domains with TVP23C: view

Function for TVP23C Gene

genes like me logo Genes that share phenotypes with TVP23C: view

Animal Model Products

CRISPR Products

miRNA for TVP23C Gene

miRTarBase miRNAs that target TVP23C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TVP23C

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

Localization for TVP23C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TVP23C Gene

Membrane; Multi-pass membrane protein.

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 TVP23C gene
Compartment Confidence
golgi apparatus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TVP23C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IBA 21873635
genes like me logo Genes that share ontologies with TVP23C: view

Pathways & Interactions for TVP23C Gene

PathCards logo

SuperPathways for TVP23C Gene

No Data Available

Interacting Proteins for TVP23C Gene

;

Gene Ontology (GO) - Biological Process for TVP23C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009306 protein secretion IBA 21873635
GO:0016192 vesicle-mediated transport IBA 21873635
genes like me logo Genes that share ontologies with TVP23C: view

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

Drugs & Compounds for TVP23C Gene

No Compound Related Data Available

Transcripts for TVP23C Gene

mRNA/cDNA for TVP23C Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TVP23C

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

No ASD Table

Relevant External Links for TVP23C Gene

GeneLoc Exon Structure for
TVP23C

Expression for TVP23C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TVP23C Gene

Protein differential expression in normal tissues from HIPED for TVP23C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.0) and Heart (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TVP23C Gene



Protein tissue co-expression partners for TVP23C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TVP23C

SOURCE GeneReport for Unigene cluster for TVP23C Gene:

Hs.164595
genes like me logo Genes that share expression patterns with TVP23C: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TVP23C Gene

Orthologs for TVP23C Gene

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

Orthologs for TVP23C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 79 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM18B1 31
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii tvp23b 31
  • 56 (a)
ManyToMany
zgc:112148 31
  • 49 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5021 31
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C34D4.4 31
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TVP23 31
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4306 31
  • 40 (a)
OneToMany
Species where no ortholog for TVP23C 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 Gene

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

Paralogs for TVP23C Gene

Paralogs for TVP23C Gene

(5) SIMAP similar genes for TVP23C Gene using alignment to 7 proteins:

  • TV23C_HUMAN
  • B4E0Q0_HUMAN
  • C9JYS5_HUMAN
  • E5RGC5_HUMAN
  • E5RIS5_HUMAN
  • J3QL47_HUMAN
  • K7EK95_HUMAN

Pseudogenes.org Pseudogenes for TVP23C Gene

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

Variants for TVP23C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TVP23C Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12150518 - p.Leu271Gln
rs17850828 - p.Asp12Ala

Additional dbSNP identifiers (rs#s) for TVP23C Gene

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

Variant ID Type Subtype PubMed ID
esv3640070 CNV loss 21293372
esv3640071 CNV gain 21293372
esv3892964 CNV gain 25118596
nsv1070392 CNV deletion 25765185
nsv457695 CNV gain 19166990
nsv574462 CNV gain 21841781
nsv960057 CNV duplication 23825009
nsv960417 CNV duplication 23825009
nsv960418 CNV duplication 23825009
nsv962260 CNV duplication 23825009

Variation tolerance for TVP23C Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.81; 66.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TVP23C Gene

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

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

Disorders for TVP23C Gene

MalaCards: The human disease database

(3) MalaCards diseases for TVP23C Gene - From: DISEASES

Disorder Aliases PubMed IDs
podoconiosis
  • podoconiosis, susceptibility to
elephantiasis
berylliosis
  • beryllium poisoning
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TVP23C

genes like me logo Genes that share disorders with TVP23C: view

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

Publications for TVP23C Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 54

Products for TVP23C Gene

Sources for TVP23C Gene