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    ARHGEF15 Rho guanine nucleotide exchange factor 15 [ Homo sapiens (human) ]

    Gene ID: 22899, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ARHGEF15provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 15provided by HGNC
    Primary source
    HGNC:HGNC:15590
    See related
    Ensembl:ENSG00000198844 MIM:608504; AllianceGenome:HGNC:15590
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E5; ARGEF15; Ephexin5; Vsm-RhoGEF
    Summary
    Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
    Expression
    Broad expression in fat (RPKM 15.9), lung (RPKM 13.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF15 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8310241..8322511)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8216478..8228747)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8213559..8225829)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11694 Neighboring gene solute carrier family 25 member 35 Neighboring gene RAN guanine nucleotide release factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11697 Neighboring gene uncharacterized LOC124903915 Neighboring gene uncharacterized LOC124903914 Neighboring gene CRISPRi-validated cis-regulatory element chr17.641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8213553-8214053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8216427-8216928 Neighboring gene small nucleolar RNA SNORA69 Neighboring gene uncharacterized LOC124903916

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ARHGEF15 overexpression worsens the prognosis in patients with pancreatic ductal adenocarcinoma through enhancing the motility and proliferative activity of the cancer cells. Fukushima H, et al. Mol Cancer, 2016 May 4. PMID 27145964, Free PMC Article
    2. Ephecting excitatory synapse development. Dalva MB. Cell, 2010 Oct 29. PMID 21029857, Free PMC Article
    3. Reducing expression of synapse-restricting protein Ephexin5 ameliorates Alzheimer's-like impairment in mice. Sell GL, et al. J Clin Invest, 2017 May 1. PMID 28346227, Free PMC Article
    4. Arhgef15 promotes retinal angiogenesis by mediating VEGF-induced Cdc42 activation and potentiating RhoJ inactivation in endothelial cells. Kusuhara S, et al. PLoS One, 2012. PMID 23029280, Free PMC Article
    5. EphA4-mediated Rho activation via Vsm-RhoGEF expressed specifically in vascular smooth muscle cells. Ogita H, et al. Circ Res, 2003 Jul 11. PMID 12775584

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. pathological elevation of Ephexin5 expression critically drives Abeta-induced memory impairment
      Title: Reducing expression of synapse-restricting protein Ephexin5 ameliorates Alzheimer's-like impairment in mice.
    2. upregulation of ARHGEF15 contributes to the development of aggressive PDAC by increasing the growth and motility of the pancreatic cancer cells, thereby worsening the prognosis of these patients.
      Title: ARHGEF15 overexpression worsens the prognosis in patients with pancreatic ductal adenocarcinoma through enhancing the motility and proliferative activity of the cancer cells.
    3. Arhgef15 acts as an endothelial cell-specific GEF to mediate VEGF-induced Cdc42 activation and potentiate RhoJ inactivation, thereby promoting actin polymerization and cell motility.
      Title: Arhgef15 promotes retinal angiogenesis by mediating VEGF-induced Cdc42 activation and potentiating RhoJ inactivation in endothelial cells.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
    5. This paper presents functional studies determined in rat, mouse, and human tissues and cell lines.
      Title: EphA4-mediated Rho activation via Vsm-RhoGEF expressed specifically in vascular smooth muscle cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13791, KIAA0915, MGC44868

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of synapse maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of stress fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in retina vasculature morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 15
    Names
    Rho guanine nucleotide exchange factor (GEF) 15
    ephexin-5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034063.1 RefSeqGene

      Range
      5004..17274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025014.2 → NP_079290.1  rho guanine nucleotide exchange factor 15

      See identical proteins and their annotated locations for NP_079290.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different segment for its 5' UTR, compared to variant 1. It encodes the same protein as variant 1.
      Source sequence(s)
      AB020722, BQ004849, BQ877184, DA632576
      Consensus CDS
      CCDS11139.1
      UniProtKB/Swiss-Prot
      A8K6G1, O94989, Q8N449, Q9H8B4
      UniProtKB/TrEMBL
      A0A0S2Z547, A0A2X0SFP9
      Related
      ENSP00000412505.1, ENST00000421050.2
      Conserved Domains (2) summary
      cd01221
      Location:622 → 742
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:422 → 598
      RhoGEF; RhoGEF domain

    2. NM_173728.4 → NP_776089.2  rho guanine nucleotide exchange factor 15

      See identical proteins and their annotated locations for NP_776089.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript. It encodes the same protein as variant 2.
      Source sequence(s)
      AB020722, BC036749, BQ877184, DB279954
      Consensus CDS
      CCDS11139.1
      UniProtKB/Swiss-Prot
      A8K6G1, O94989, Q8N449, Q9H8B4
      UniProtKB/TrEMBL
      A0A0S2Z547, A0A2X0SFP9
      Related
      ENSP00000355026.3, ENST00000361926.8
      Conserved Domains (2) summary
      cd01221
      Location:622 → 742
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:422 → 598
      RhoGEF; RhoGEF domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      8310241..8322511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523734.3 → XP_011522036.1  rho guanine nucleotide exchange factor 15 isoform X1

      See identical proteins and their annotated locations for XP_011522036.1

      UniProtKB/TrEMBL
      A0A2X0SFP9
      Conserved Domains (2) summary
      cd01221
      Location:637 → 757
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:422 → 613
      RhoGEF; RhoGEF domain

    2. XM_011523736.3 → XP_011522038.1  rho guanine nucleotide exchange factor 15 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z543
      Conserved Domains (2) summary
      pfam00621
      Location:422 → 613
      RhoGEF; RhoGEF domain
      cl17171
      Location:637 → 699
      PH-like; Pleckstrin homology-like domain

    3. XM_047435631.1 → XP_047291587.1  rho guanine nucleotide exchange factor 15 isoform X3

    4. XM_011523735.2 → XP_011522037.1  rho guanine nucleotide exchange factor 15 isoform X1

      See identical proteins and their annotated locations for XP_011522037.1

      UniProtKB/TrEMBL
      A0A2X0SFP9
      Conserved Domains (2) summary
      cd01221
      Location:637 → 757
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:422 → 613
      RhoGEF; RhoGEF domain

    5. XM_011523737.2 → XP_011522039.1  rho guanine nucleotide exchange factor 15 isoform X4

      Conserved Domains (2) summary
      cd01221
      Location:220 → 340
      PH_ephexin; Ephexin Pleckstrin homology (PH) domain
      pfam00621
      Location:5 → 196
      RhoGEF; RhoGEF domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      8216478..8228747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315493.1 → XP_054171468.1  rho guanine nucleotide exchange factor 15 isoform X1

    2. XM_054315495.1 → XP_054171470.1  rho guanine nucleotide exchange factor 15 isoform X2

    3. XM_054315496.1 → XP_054171471.1  rho guanine nucleotide exchange factor 15 isoform X3

    4. XM_054315494.1 → XP_054171469.1  rho guanine nucleotide exchange factor 15 isoform X1

    5. XM_054315497.1 → XP_054171472.1  rho guanine nucleotide exchange factor 15 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94989.4 GenPept UniProtKB/Swiss-Prot:O94989

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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