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Aliases for ARHGEF10L Gene

Aliases for ARHGEF10L Gene

  • Rho Guanine Nucleotide Exchange Factor 10 Like 2 3 5
  • GrinchGEF 2 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 10-Like 2 3
  • Rho Guanine Nucleotide Exchange Factor 10-Like Protein 3
  • KIAA1626 4

External Ids for ARHGEF10L Gene

Previous GeneCards Identifiers for ARHGEF10L Gene

  • GC01P017612
  • GC01P017738
  • GC01P017866
  • GC01P016112

Summaries for ARHGEF10L Gene

Entrez Gene Summary for ARHGEF10L Gene

  • This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]

GeneCards Summary for ARHGEF10L Gene

ARHGEF10L (Rho Guanine Nucleotide Exchange Factor 10 Like) is a Protein Coding gene. 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 ARHGEF10.

UniProtKB/Swiss-Prot for ARHGEF10L Gene

  • Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.

Additional gene information for ARHGEF10L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF10L Gene

Genomics for ARHGEF10L Gene

GeneHancer (GH) Regulatory Elements for ARHGEF10L Gene

Promoters and enhancers for ARHGEF10L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I017537 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.4 +19.5 19546 3.6 FOXA2 RB1 KLF17 SIN3A ZNF76 ZNF2 ZNF48 RARA ETS1 ZNF335 ARHGEF10L GC01M017533
GH01I017579 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 561.9 +61.1 61107 3.4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 ATF7 RXRA SP5 ARHGEF10L GC01P017551 ACTL8
GH01I017519 Enhancer 0.9 ENCODE dbSUPER 555.7 +0.2 208 1.5 NCOA3 PKNOX1 ESRRA CLOCK SIN3A NFXL1 ZIC2 ZKSCAN1 E2F1 CTBP1 ARHGEF10L RCC2 GC01M017533
GH01I017521 Enhancer 0.6 ENCODE dbSUPER 550.8 +1.4 1423 0.3 BCOR ZMYM3 ARHGEF10L RCC2 GC01M017533
GH01I017586 Enhancer 1.3 Ensembl ENCODE dbSUPER 17 +67.9 67891 4.6 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 FOS RXRA ARHGEF10L GC01P017551 ACTL8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGEF10L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARHGEF10L gene promoter:

Genomic Locations for ARHGEF10L Gene

Genomic Locations for ARHGEF10L Gene
chr1:17,520,197-17,697,875
(GRCh38/hg38)
Size:
177,679 bases
Orientation:
Plus strand
chr1:17,866,330-18,024,370
(GRCh37/hg19)

Genomic View for ARHGEF10L Gene

Genes around ARHGEF10L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF10L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF10L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF10L Gene

Proteins for ARHGEF10L Gene

  • Protein details for ARHGEF10L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCE6-ARGAL_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 10-like protein
    Protein Accession:
    Q9HCE6
    Secondary Accessions:
    • B7ZKS1
    • Q17RW1
    • Q3YFJ4
    • Q5VXI5
    • Q5VXI6
    • Q66K51
    • Q6P0L7
    • Q8NAV5
    • Q9NVT3

    Protein attributes for ARHGEF10L Gene

    Size:
    1279 amino acids
    Molecular mass:
    140409 Da
    Quaternary structure:
    • Interacts with RHOA, RHOB and RHOC.
    SequenceCaution:
    • Sequence=BAA91663.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13452.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03792.1; Type=Erroneous termination; Positions=931; Note=Translated as Arg.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF10L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF10L Gene

Post-translational modifications for ARHGEF10L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGEF10L Gene

Domains & Families for ARHGEF10L Gene

Gene Families for ARHGEF10L Gene

Protein Domains for ARHGEF10L Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARHGEF10L: view

No data available for UniProtKB/Swiss-Prot for ARHGEF10L Gene

Function for ARHGEF10L Gene

Molecular function for ARHGEF10L Gene

UniProtKB/Swiss-Prot Function:
Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.

Phenotypes From GWAS Catalog for ARHGEF10L Gene

Gene Ontology (GO) - Molecular Function for ARHGEF10L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IDA --
genes like me logo Genes that share ontologies with ARHGEF10L: view
genes like me logo Genes that share phenotypes with ARHGEF10L: view

Animal Model Products

CRISPR Products

miRNA for ARHGEF10L Gene

miRTarBase miRNAs that target ARHGEF10L

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF10L Gene

Localization for ARHGEF10L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF10L Gene

Cytoplasm.

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 ARHGEF10L gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ARHGEF10L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ARHGEF10L: view

Pathways & Interactions for ARHGEF10L Gene

genes like me logo Genes that share pathways with ARHGEF10L: view

Pathways by source for ARHGEF10L Gene

Gene Ontology (GO) - Biological Process for ARHGEF10L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032933 SREBP signaling pathway IDA --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051496 positive regulation of stress fiber assembly IDA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with ARHGEF10L: view

No data available for SIGNOR curated interactions for ARHGEF10L Gene

Drugs & Compounds for ARHGEF10L Gene

(3) Drugs for ARHGEF10L 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 ARHGEF10L: view

Transcripts for ARHGEF10L Gene

Unigene Clusters for ARHGEF10L Gene

Rho guanine nucleotide exchange factor (GEF) 10-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF10L Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ARHGEF10L Gene

GeneLoc Exon Structure for
ARHGEF10L
ECgene alternative splicing isoforms for
ARHGEF10L

Expression for ARHGEF10L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGEF10L Gene

Protein differential expression in normal tissues from HIPED for ARHGEF10L Gene

This gene is overexpressed in Cervix (35.1), Urine (7.6), and Salivary gland (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF10L Gene



Protein tissue co-expression partners for ARHGEF10L Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF10L Gene:

ARHGEF10L

SOURCE GeneReport for Unigene cluster for ARHGEF10L Gene:

Hs.443460

mRNA Expression by UniProt/SwissProt for ARHGEF10L Gene:

Q9HCE6-ARGAL_HUMAN
Tissue specificity: Detected in heart, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for ARHGEF10L Gene

  • Nervous system(4.6)
  • Kidney(4.3)
  • Eye(4.2)
  • Intestine(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ARHGEF10L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF10L Gene

Orthologs for ARHGEF10L Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF10L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF10L 33 34
  • 98.98 (n)
dog
(Canis familiaris)
Mammalia ARHGEF10L 33 34
  • 91.04 (n)
cow
(Bos Taurus)
Mammalia ARHGEF10L 33 34
  • 89.07 (n)
mouse
(Mus musculus)
Mammalia Arhgef10l 33 16 34
  • 86.84 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef10l 33
  • 85.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF10L 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF10L 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF10L 33 34
  • 76.52 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGEF10L 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef10l 33
  • 70.11 (n)
Str.13733 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12615 33
zebrafish
(Danio rerio)
Actinopterygii arhgef10lb 34
  • 55 (a)
OneToMany
ARHGEF10L (2 of 2) 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43658 34
  • 16 (a)
OneToMany
Species where no ortholog for ARHGEF10L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 squirt (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 ARHGEF10L Gene

ENSEMBL:
Gene Tree for ARHGEF10L (if available)
TreeFam:
Gene Tree for ARHGEF10L (if available)

Paralogs for ARHGEF10L Gene

Paralogs for ARHGEF10L Gene

(1) SIMAP similar genes for ARHGEF10L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ARHGEF10L: view

Variants for ARHGEF10L Gene

Sequence variations from dbSNP and Humsavar for ARHGEF10L Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs149908903 likely-pathogenic, Cerebral visual impairment and intellectual disability 17,697,186(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_044184 A colorectal cancer sample p.Ala96Val
rs1000017596 -- 17,535,475(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000022704 -- 17,539,220(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000025123 -- 17,607,181(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF10L Gene

Variant ID Type Subtype PubMed ID
esv2659798 CNV deletion 23128226
esv2661094 CNV deletion 23128226
esv2764267 CNV loss 21179565
esv3351922 CNV duplication 20981092
esv3551122 CNV deletion 23714750
esv3585371 CNV loss 21293372
esv3585373 CNV loss 21293372
esv3585374 CNV loss 21293372
esv988531 CNV deletion 20482838
esv997027 OTHER inversion 20482838
nsv1160182 CNV duplication 26073780
nsv4298 CNV deletion 18451855
nsv460673 CNV loss 19166990
nsv470701 CNV loss 18288195
nsv512721 CNV insertion 21212237
nsv518693 CNV loss 19592680
nsv545710 CNV loss 21841781
nsv818089 CNV loss 17921354
nsv834302 CNV loss 17160897
nsv954872 CNV deletion 24416366

Variation tolerance for ARHGEF10L Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF10L Gene

Human Gene Mutation Database (HGMD)
ARHGEF10L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF10L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF10L Gene

Disorders for ARHGEF10L Gene

Additional Disease Information for ARHGEF10L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ARHGEF10L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGEF10L Gene

Publications for ARHGEF10L Gene

  1. GrinchGEF--a novel Rho-specific guanine nucleotide exchange factor. (PMID: 16112081) Winkler S … Lutz S (Biochemical and biophysical research communications 2005) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  3. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 44 58
  4. 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 44 58
  5. Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (PMID: 18849993) Stacey SN … Stefansson K (Nature genetics 2008) 3 44 58

Products for ARHGEF10L Gene

Sources for ARHGEF10L Gene

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