Aliases for TVP23B Gene

Aliases for TVP23B Gene

  • Trans-Golgi Network Vesicle Protein 23 Homolog B 2 3 5
  • Golgi Apparatus Membrane Protein TVP23 Homolog B 3 4
  • Family With Sequence Similarity 18, Member B1 2 3
  • Family With Sequence Similarity 18, Member B 2 3
  • FAM18B1 3 4
  • FAM18B 3 4
  • Trans-Golgi Network Vesicle Protein 23 Homolog B (S. Cerevisiae) 2
  • Protein FAM18B1 3
  • CGI-148 3
  • YDR084C 3
  • NPD008 3

External Ids for TVP23B Gene

Previous HGNC Symbols for TVP23B Gene

  • FAM18B
  • FAM18B1

Previous GeneCards Identifiers for TVP23B Gene

  • GC17P018690

Summaries for TVP23B Gene

GeneCards Summary for TVP23B Gene

TVP23B (Trans-Golgi Network Vesicle Protein 23 Homolog B) is a Protein Coding gene. Diseases associated with TVP23B include Charcot-Marie-Tooth Disease And Deafness. An important paralog of this gene is TVP23C.

Gene Wiki entry for TVP23B Gene

Additional gene information for TVP23B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TVP23B Gene

Genomics for TVP23B Gene

GeneHancer (GH) Regulatory Elements for TVP23B Gene

Promoters and enhancers for TVP23B 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 TVP23B on UCSC Golden Path with GeneCards custom track

Genomic Locations for TVP23B Gene

Genomic Locations for TVP23B Gene
chr17:18,781,111-18,806,714
(GRCh38/hg38)
Size:
25,604 bases
Orientation:
Plus strand
chr17:18,684,308-18,710,027
(GRCh37/hg19)
Size:
25,720 bases
Orientation:
Plus strand

Genomic View for TVP23B Gene

Genes around TVP23B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TVP23B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TVP23B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TVP23B Gene

Proteins for TVP23B Gene

  • Protein details for TVP23B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYZ1-TV23B_HUMAN
    Recommended name:
    Golgi apparatus membrane protein TVP23 homolog B
    Protein Accession:
    Q9NYZ1
    Secondary Accessions:
    • A8K448
    • Q96HK5
    • Q9Y3E6

    Protein attributes for TVP23B Gene

    Size:
    205 amino acids
    Molecular mass:
    23576 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD34143.1; Type=Frameshift; Positions=178; Evidence={ECO:0000305};

neXtProt entry for TVP23B Gene

Post-translational modifications for TVP23B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TVP23B Gene

Domains & Families for TVP23B Gene

Gene Families for TVP23B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TVP23B Gene

Suggested Antigen Peptide Sequences for TVP23B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM18B1 (F18B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYZ1

UniProtKB/Swiss-Prot:

TV23B_HUMAN :
  • Belongs to the TVP23 family.
Family:
  • Belongs to the TVP23 family.
genes like me logo Genes that share domains with TVP23B: view

Function for TVP23B Gene

Phenotypes From GWAS Catalog for TVP23B Gene

genes like me logo Genes that share phenotypes with TVP23B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TVP23B

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TVP23B

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 TVP23B Gene

Localization for TVP23B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TVP23B 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 TVP23B gene
Compartment Confidence
plasma membrane 3
golgi apparatus 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TVP23B 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 TVP23B: view

Pathways & Interactions for TVP23B Gene

PathCards logo

SuperPathways for TVP23B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TVP23B 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 TVP23B: view

No data available for Pathways by source and SIGNOR curated interactions for TVP23B Gene

Drugs & Compounds for TVP23B Gene

No Compound Related Data Available

Transcripts for TVP23B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TVP23B

Alternative Splicing Database (ASD) splice patterns (SP) for TVP23B Gene

No ASD Table

Relevant External Links for TVP23B Gene

GeneLoc Exon Structure for
TVP23B
ECgene alternative splicing isoforms for
TVP23B

Expression for TVP23B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TVP23B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TVP23B Gene:

TVP23B

SOURCE GeneReport for Unigene cluster for TVP23B Gene:

Hs.87295

Evidence on tissue expression from TISSUES for TVP23B Gene

  • Kidney(4)
  • Muscle(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with TVP23B: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TVP23B Gene

Orthologs for TVP23B Gene

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

Orthologs for TVP23B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC455050 32
  • 98.86 (n)
TVP23B 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TVP23B 33 32
  • 89.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TVP23B 33 32
  • 87.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tvp23b 17 33 32
  • 85.04 (n)
rat
(Rattus norvegicus)
Mammalia Tvp23b 32
  • 84.88 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM18B1 33 32
  • 75.12 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tvp23b 32
  • 70.77 (n)
Str.7026 32
zebrafish
(Danio rerio)
Actinopterygii tvp23b 33 32
  • 67.53 (n)
ManyToMany
zgc:112148 33
  • 60 (a)
ManyToMany
Dr.18457 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4385 32
fruit fly
(Drosophila melanogaster)
Insecta CG5021 33
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_C34D4.4 32
  • 52.1 (n)
C34D4.4 33
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TVP23 35 33
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4306 33
  • 51 (a)
OneToMany
Species where no ortholog for TVP23B 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 TVP23B Gene

ENSEMBL:
Gene Tree for TVP23B (if available)
TreeFam:
Gene Tree for TVP23B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TVP23B: view image

Paralogs for TVP23B Gene

Paralogs for TVP23B Gene

(3) SIMAP similar genes for TVP23B Gene using alignment to 5 proteins:

  • TV23B_HUMAN
  • I3L376_HUMAN
  • J3KS67_HUMAN
  • J3QL63_HUMAN
  • K7ENL4_HUMAN

Pseudogenes.org Pseudogenes for TVP23B Gene

genes like me logo Genes that share paralogs with TVP23B: view

Variants for TVP23B Gene

Sequence variations from dbSNP and Humsavar for TVP23B Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000226487 -- 18,801,334(+) G/T intron_variant
rs1000587913 -- 18,788,288(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000618941 -- 18,788,054(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000768770 -- 18,794,287(+) T/C intron_variant
rs1001138923 -- 18,794,720(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TVP23B Gene

Variant ID Type Subtype PubMed ID
dgv564e214 CNV gain 21293372
nsv1055999 CNV gain 25217958
nsv1057803 CNV loss 25217958
nsv1063354 CNV gain 25217958
nsv1076440 CNV duplication 25765185
nsv442413 CNV gain 18776908
nsv499818 OTHER inversion 21111241
nsv523721 CNV gain 19592680
nsv833389 CNV gain 17160897
nsv833390 CNV loss 17160897
nsv9504 CNV gain+loss 18304495
nsv960431 CNV duplication 23825009
nsv978381 CNV duplication 23825009

Variation tolerance for TVP23B Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TVP23B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TVP23B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TVP23B Gene

Disorders for TVP23B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TVP23B Gene - From: DISEASES

Disorder Aliases PubMed IDs
charcot-marie-tooth disease and deafness
  • hmsn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TVP23B

genes like me logo Genes that share disorders with TVP23B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TVP23B Gene

Publications for TVP23B Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 56
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  3. Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons. (PMID: 26514267) Benleulmi-Chaachoua A … Jockers R (Journal of pineal research 2016) 3 56
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 56
  5. Role of FAM18B in diabetic retinopathy. (PMID: 25221423) Wang AL … Grassi MA (Molecular vision 2014) 3 56

Products for TVP23B Gene

Sources for TVP23B Gene