Aliases for ARHGEF39 Gene

Aliases for ARHGEF39 Gene

  • Rho Guanine Nucleotide Exchange Factor 39 2 3 3 4 5
  • Rho Guanine Nucleotide Exchange Factor (GEF) 39 2 3
  • C9orf100 3 4
  • Chromosome 9 Open Reading Frame 100 2
  • Vav-Like Protein C9orf100 3
  • ARHGEF39 5
  • FLJ14642 2

External Ids for ARHGEF39 Gene

Previous HGNC Symbols for ARHGEF39 Gene

  • C9orf100

Summaries for ARHGEF39 Gene

GeneCards Summary for ARHGEF39 Gene

ARHGEF39 (Rho Guanine Nucleotide Exchange Factor 39) is a Protein Coding gene. Diseases associated with ARHGEF39 include Hepatocellular Carcinoma. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD5.

UniProtKB/Swiss-Prot Summary for ARHGEF39 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF39 Gene

Genomics for ARHGEF39 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF39 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 ARHGEF39 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF39

Genomic Locations for ARHGEF39 Gene

Latest Assembly
chr9:35,658,875-35,675,866
(GRCh38/hg38)
Size:
16,992 bases
Orientation:
Minus strand

Previous Assembly
chr9:35,659,340-35,665,192
(GRCh37/hg19 by Entrez Gene)
Size:
5,853 bases
Orientation:
Minus strand

chr9:35,658,872-35,675,863
(GRCh37/hg19 by Ensembl)
Size:
16,992 bases
Orientation:
Minus strand

Genomic View for ARHGEF39 Gene

Genes around ARHGEF39 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF39 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF39 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF39 Gene

Proteins for ARHGEF39 Gene

  • Protein details for ARHGEF39 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4T4-ARG39_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 39
    Protein Accession:
    Q8N4T4
    Secondary Accessions:
    • Q49AG0
    • Q6TPQ2
    • Q96ST6

    Protein attributes for ARHGEF39 Gene

    Size:
    335 amino acids
    Molecular mass:
    38295 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAR01010.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAR01011.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF39 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF39 Gene

Post-translational modifications for ARHGEF39 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for ARHGEF39

No data available for DME Specific Peptides for ARHGEF39 Gene

Domains & Families for ARHGEF39 Gene

Gene Families for ARHGEF39 Gene

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

Protein Domains for ARHGEF39 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain

Suggested Antigen Peptide Sequences for ARHGEF39 Gene

GenScript: Design optimal peptide antigens:
  • Vav-like protein C9orf100 (CI100_HUMAN)
genes like me logo Genes that share domains with ARHGEF39: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGEF39 Gene

Function for ARHGEF39 Gene

Molecular function for ARHGEF39 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell proliferation.

Phenotypes From GWAS Catalog for ARHGEF39 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ARHGEF39: view
genes like me logo Genes that share phenotypes with ARHGEF39: view

miRNA for ARHGEF39 Gene

miRTarBase miRNAs that target ARHGEF39

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF39

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF39 Gene

Localization for ARHGEF39 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF39 Gene

Cell membrane.

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 ARHGEF39 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ARHGEF39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IDA 22327280
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ARHGEF39: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGEF39 Gene

Pathways & Interactions for ARHGEF39 Gene

genes like me logo Genes that share pathways with ARHGEF39: view

Gene Ontology (GO) - Biological Process for ARHGEF39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030335 positive regulation of cell migration IBA,IDA 22327280
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with ARHGEF39: view

No data available for SIGNOR curated interactions for ARHGEF39 Gene

Drugs & Compounds for ARHGEF39 Gene

(3) Drugs for ARHGEF39 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ARHGEF39: view

Transcripts for ARHGEF39 Gene

mRNA/cDNA for ARHGEF39 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 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 ARHGEF39

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF39 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - -
SP2: - -
SP3: - - - - -
SP4: -
SP5: - - - - -
SP6:
SP7: -

Relevant External Links for ARHGEF39 Gene

GeneLoc Exon Structure for
ARHGEF39

Expression for ARHGEF39 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF39 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF39 Gene

This gene is overexpressed in Frontal cortex (44.6), NK cells (13.8), and Fetal gut (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF39 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF39

SOURCE GeneReport for Unigene cluster for ARHGEF39 Gene:

Hs.534579

mRNA Expression by UniProt/SwissProt for ARHGEF39 Gene:

Q8N4T4-ARG39_HUMAN
Tissue specificity: Strongly expressed in hepatocellular carcinoma (HCC) compared with their non-cancerous counterparts.

Evidence on tissue expression from TISSUES for ARHGEF39 Gene

  • Blood(4.1)
genes like me logo Genes that share expression patterns with ARHGEF39: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF39 Gene

Orthologs for ARHGEF39 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF39 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF39 29 30
  • 99.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGEF39 29 30
  • 88.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGEF39 29 30
  • 87.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef39 29
  • 86.81 (n)
Mouse
(Mus musculus)
Mammalia Arhgef39 29 16 30
  • 85.47 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF39 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF39 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CZH9ORF100 29 30
  • 61.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGEF39 30
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485947 29
  • 52.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii arhgef39 29 30
  • 56.79 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011707 29
  • 43.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGEF4 29
  • 43.62 (n)
Species where no ortholog for ARHGEF39 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ARHGEF39 Gene

ENSEMBL:
Gene Tree for ARHGEF39 (if available)
TreeFam:
Gene Tree for ARHGEF39 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF39: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGEF39

Paralogs for ARHGEF39 Gene

Paralogs for ARHGEF39 Gene

genes like me logo Genes that share paralogs with ARHGEF39: view

Variants for ARHGEF39 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF39 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs2297879 -- p.His306Arg
rs45567235 -- p.Cys5Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGEF39 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 ARHGEF39 Gene

Variant ID Type Subtype PubMed ID
esv2665709 CNV deletion 23128226
esv3544805 CNV deletion 23714750
esv3620382 CNV loss 21293372
nsv1125318 OTHER inversion 24896259
nsv466385 CNV loss 19166990
nsv614166 CNV loss 21841781

Variation tolerance for ARHGEF39 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.42; 88.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF39 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF39
Leiden Open Variation Database (LOVD)
ARHGEF39

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF39 Gene

Disorders for ARHGEF39 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGEF39 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGEF39

genes like me logo Genes that share disorders with ARHGEF39: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGEF39 Gene

Publications for ARHGEF39 Gene

  1. C9orf100, a new member of the Dbl-family guanine nucleotide exchange factors, promotes cell proliferation and migration in hepatocellular carcinoma. (PMID: 22327280) Wang H … Cai B (Molecular medicine reports 2012) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3
  4. Poly(ADP-ribosyl)ation of BRD7 by PARP1 confers resistance to DNA-damaging chemotherapeutic agents. (PMID: 30940648) Hu K … Yin D (EMBO reports 2019) 3
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for ARHGEF39 Gene

Sources for ARHGEF39 Gene