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

Gene ID: 22899, updated on 7-Apr-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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Location:
17p13.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8310241..8322511)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8216478..8228747)
105.20220307 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
  • 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 (24) 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 activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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_2023_10

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

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