This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multip... See more...

Aliases for TVP23A Gene

Aliases for TVP23A Gene

  • Trans-Golgi Network Vesicle Protein 23 Homolog A 2 3 5
  • Golgi Apparatus Membrane Protein TVP23 Homolog A 3 4
  • Family With Sequence Similarity 18, Member A 2 3
  • YDR084C 2 3
  • FAM18A 3 4
  • Trans-Golgi Network Vesicle Protein 23 Homolog A (S. Cerevisiae) 2
  • Protein FAM18A 3
  • TVP23A 5

External Ids for TVP23A Gene

Previous HGNC Symbols for TVP23A Gene

  • FAM18A

Previous GeneCards Identifiers for TVP23A Gene

  • GC16M010856
  • GC16M010864
  • GC16M010873
  • GC16M010891
  • GC16M010918

Summaries for TVP23A Gene

Entrez Gene Summary for TVP23A Gene

  • This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for TVP23A Gene

TVP23A (Trans-Golgi Network Vesicle Protein 23 Homolog A) is a Protein Coding gene. Diseases associated with TVP23A include Atrial Septal Defect 3 and Pachyonychia Congenita 1. An important paralog of this gene is TVP23B.

Additional gene information for TVP23A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TVP23A Gene

Genomics for TVP23A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TVP23A 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 TVP23A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TVP23A

Genomic Locations for TVP23A Gene

Genomic Locations for TVP23A Gene
chr16:10,758,034-10,818,902
(GRCh38/hg38)
Size:
60,869 bases
Orientation:
Minus strand
chr16:10,854,776-10,912,651
(GRCh37/hg19)
Size:
57,876 bases
Orientation:
Minus strand

Genomic View for TVP23A Gene

Genes around TVP23A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TVP23A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TVP23A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TVP23A Gene

Proteins for TVP23A Gene

  • Protein details for TVP23A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NH52-TV23A_HUMAN
    Recommended name:
    Golgi apparatus membrane protein TVP23 homolog A
    Protein Accession:
    A6NH52
    Secondary Accessions:
    • B2RUV4
    • B7ZW18

    Protein attributes for TVP23A Gene

    Size:
    213 amino acids
    Molecular mass:
    24111 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TVP23A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TVP23A Gene

Post-translational modifications for TVP23A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TVP23A Gene

Domains & Families for TVP23A Gene

Gene Families for TVP23A Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TVP23A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TVP23A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM18A (FA18A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NH52

UniProtKB/Swiss-Prot:

TV23A_HUMAN :
  • Belongs to the TVP23 family.
Family:
  • Belongs to the TVP23 family.
genes like me logo Genes that share domains with TVP23A: view

Function for TVP23A Gene

Phenotypes From GWAS Catalog for TVP23A Gene

genes like me logo Genes that share phenotypes with TVP23A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TVP23A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TVP23A Gene

Localization for TVP23A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TVP23A 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 TVP23A gene
Compartment Confidence
plasma membrane 3
golgi apparatus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TVP23A 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 TVP23A: view

Pathways & Interactions for TVP23A Gene

PathCards logo

SuperPathways for TVP23A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TVP23A 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 TVP23A: view

No data available for Pathways by source and SIGNOR curated interactions for TVP23A Gene

Drugs & Compounds for TVP23A Gene

No Compound Related Data Available

Transcripts for TVP23A Gene

mRNA/cDNA for TVP23A Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 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 TVP23A

Alternative Splicing Database (ASD) splice patterns (SP) for TVP23A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b
SP1: - -
SP2: - - - -
SP3: -
SP4: - -
SP5:

Relevant External Links for TVP23A Gene

GeneLoc Exon Structure for
TVP23A

Expression for TVP23A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TVP23A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TVP23A Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TVP23A Gene



Protein tissue co-expression partners for TVP23A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TVP23A

SOURCE GeneReport for Unigene cluster for TVP23A Gene:

Hs.371576

Evidence on tissue expression from TISSUES for TVP23A Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TVP23A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TVP23A Gene

Orthologs for TVP23A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TVP23A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TVP23A 30 31
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TVP23A 30 31
  • 88.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TVP23A 30 31
  • 87.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tvp23a 30 17 31
  • 84.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tvp23a 30
  • 84.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia TVP23A 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FAM18A 30
  • 73.01 (n)
TVP23A 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tvp23a 30
  • 73.12 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5021 30 31
  • 57.26 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012432 30
  • 55.69 (n)
Worm
(Caenorhabditis elegans)
Secernentea C34D4.4 31
  • 26 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11869g 30
  • 45 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TVP23 30 31
  • 44 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR153C 30
  • 43.36 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G09330 30
  • 48.37 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0331900 30
  • 46.91 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02733 30
  • 53.94 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tvp23 30
  • 47 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4306 31
  • 46 (a)
OneToMany
Species where no ortholog for TVP23A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for TVP23A Gene

ENSEMBL:
Gene Tree for TVP23A (if available)
TreeFam:
Gene Tree for TVP23A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TVP23A: view image

Paralogs for TVP23A Gene

Paralogs for TVP23A Gene

(3) SIMAP similar genes for TVP23A Gene using alignment to 5 proteins:

  • TV23A_HUMAN
  • B7ZW18_HUMAN
  • I3L109_HUMAN
  • I3L3Y3_HUMAN
  • I3L488_HUMAN

Pseudogenes.org Pseudogenes for TVP23A Gene

genes like me logo Genes that share paralogs with TVP23A: view

Variants for TVP23A Gene

Additional dbSNP identifiers (rs#s) for TVP23A Gene

Structural Variations from Database of Genomic Variants (DGV) for TVP23A Gene

Variant ID Type Subtype PubMed ID
esv2204919 CNV deletion 18987734
esv2678178 CNV deletion 23128226
esv2713976 CNV deletion 23290073
esv2763131 CNV loss 21179565
esv3637915 CNV loss 21293372
nsv1040428 CNV gain 25217958
nsv1071264 CNV deletion 25765185
nsv833140 CNV loss 17160897

Variation tolerance for TVP23A Gene

Residual Variation Intolerance Score: 65.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TVP23A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TVP23A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TVP23A Gene

Disorders for TVP23A Gene

MalaCards: The human disease database

(2) MalaCards diseases for TVP23A Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 3
  • asd3
pachyonychia congenita 1
  • pc1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TVP23A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TVP23A Gene

Publications for TVP23A Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. (PMID: 28700943) Martin TD … Elledge SJ (Cell reports 2017) 3
  3. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. 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

Products for TVP23A Gene

Sources for TVP23A Gene