Aliases for RAB42 Gene

Aliases for RAB42 Gene

  • RAB42, Member RAS Oncogene Family 2 3 5
  • RAB42, Member RAS Homolog Family 2 3
  • Ras-Related Protein Rab-42 3 4
  • Putative Ras-Related Protein Rab-42 3
  • MGC45806 2
  • RAB42 5

External Ids for RAB42 Gene

Previous GeneCards Identifiers for RAB42 Gene

  • GC00U906277
  • GC14U900439
  • GC01P028740
  • GC01P028791
  • GC01P028918
  • GC01P027171

Summaries for RAB42 Gene

GeneCards Summary for RAB42 Gene

RAB42 (RAB42, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB42 include Choroidal Dystrophy, Central Areolar, 1 and Choroideremia. Among its related pathways are Metabolism of proteins and RAB geranylgeranylation. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB39A.

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 RAB42 Gene

Genomics for RAB42 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB42 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 RAB42 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB42

Top Transcription factor binding sites by QIAGEN in the RAB42 gene promoter:
  • AML1a
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • Meis-1
  • Meis-1a
  • Meis-1b
  • SEF-1 (1)
  • TGIF

Genomic Locations for RAB42 Gene

Latest Assembly
chr1:28,592,200-28,596,666
(GRCh38/hg38)
Size:
4,467 bases
Orientation:
Plus strand

Previous Assembly
chr1:28,918,777-28,923,178
(GRCh37/hg19 by Entrez Gene)
Size:
4,402 bases
Orientation:
Plus strand

chr1:28,918,712-28,921,955
(GRCh37/hg19 by Ensembl)
Size:
3,244 bases
Orientation:
Plus strand

Genomic View for RAB42 Gene

Genes around RAB42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB42 Gene

Proteins for RAB42 Gene

  • Protein details for RAB42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4Z0-RAB42_HUMAN
    Recommended name:
    Ras-related protein Rab-42
    Protein Accession:
    Q8N4Z0
    Secondary Accessions:
    • A0A1W2PQ57
    • B2R5G2

    Protein attributes for RAB42 Gene

    Size:
    218 amino acids
    Molecular mass:
    24133 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAB42 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB42 Gene

Post-translational modifications for RAB42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB42 Gene

No data available for DME Specific Peptides for RAB42 Gene

Domains & Families for RAB42 Gene

Gene Families for RAB42 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB42 Gene

Suggested Antigen Peptide Sequences for RAB42 Gene

GenScript: Design optimal peptide antigens:
  • Putative Ras-related protein Rab-42 (RAB42_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N4Z0

UniProtKB/Swiss-Prot:

RAB42_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB42: view

Function for RAB42 Gene

Phenotypes From GWAS Catalog for RAB42 Gene

Gene Ontology (GO) - Molecular Function for RAB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI --
GO:0005525 GTP binding IBA 21873635
GO:0019003 GDP binding IBA 21873635
genes like me logo Genes that share ontologies with RAB42: view
genes like me logo Genes that share phenotypes with RAB42: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RAB42

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB42

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB42 Gene

Localization for RAB42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB42 Gene

Membrane. Lipid-anchor.

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 RAB42 gene
Compartment Confidence
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB42: view

Pathways & Interactions for RAB42 Gene

genes like me logo Genes that share pathways with RAB42: view

Pathways by source for RAB42 Gene

Gene Ontology (GO) - Biological Process for RAB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007265 Ras protein signal transduction IBA 21873635
genes like me logo Genes that share ontologies with RAB42: view

No data available for SIGNOR curated interactions for RAB42 Gene

Drugs & Compounds for RAB42 Gene

No Compound Related Data Available

Transcripts for RAB42 Gene

mRNA/cDNA for RAB42 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB42

Alternative Splicing Database (ASD) splice patterns (SP) for RAB42 Gene

No ASD Table

Relevant External Links for RAB42 Gene

GeneLoc Exon Structure for
RAB42

Expression for RAB42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAB42 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB42

SOURCE GeneReport for Unigene cluster for RAB42 Gene:

Hs.652321

Evidence on tissue expression from TISSUES for RAB42 Gene

  • Nervous system(4.1)
  • Kidney(4)
genes like me logo Genes that share expression patterns with RAB42: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB42 Gene

Orthologs for RAB42 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB42 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB42 29 30
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB42 29 30
  • 88.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB42 29 30
  • 86.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab42 29 16 30
  • 83.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB42 30
  • 30 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB42 30
  • 22 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rab42a 30
  • 18 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rab39 30
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-39 30
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 18 (a)
OneToMany
Species where no ortholog for RAB42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RAB42 Gene

ENSEMBL:
Gene Tree for RAB42 (if available)
TreeFam:
Gene Tree for RAB42 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB42: view image
Alliance of Genome Resources:
Additional Orthologs for RAB42

Paralogs for RAB42 Gene

(23) SIMAP similar genes for RAB42 Gene using alignment to 1 proteins:

  • RAB42_HUMAN
genes like me logo Genes that share paralogs with RAB42: view

Variants for RAB42 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB42 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB42 Gene

Variant ID Type Subtype PubMed ID
nsv545916 CNV gain 21841781

Variation tolerance for RAB42 Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB42 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB42
Leiden Open Variation Database (LOVD)
RAB42

SNP Genotyping and Copy Number Assays for research

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 RAB42 Gene

Disorders for RAB42 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB42 Gene - From: COP

Disorder Aliases PubMed IDs
choroidal dystrophy, central areolar, 1
  • cacd1
choroideremia
  • chm
- elite association - COSMIC cancer census association via MalaCards
Search RAB42 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB42

genes like me logo Genes that share disorders with RAB42: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB42 Gene

Publications for RAB42 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4

Products for RAB42 Gene

Sources for RAB42 Gene