ARHGEF17 Rho guanine nucleotide exchange factor 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGEF17provided by HGNC
Official Full Name: Rho guanine nucleotide exchange factor 17provided by HGNC
Primary source: HGNC:HGNC:21726
See related: Ensembl:ENSG00000110237 MIM:617043; AllianceGenome:HGNC:21726
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TEM4; RHOGEF17; P164RHOGEF; p164-RhoGEF
Summary: Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within actin cytoskeleton organization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in endometrium (RPKM 12.7), fat (RPKM 10.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (73308276..73369388)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (73237439..73298525)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (73019321..73080433)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RhoGEF17-An Essential Regulator of Endothelial Cell Death and Growth.
Title: RhoGEF17-An Essential Regulator of Endothelial Cell Death and Growth.
results provide compelling evidence that ARHGEF17 is a risk gene for Intracranial aneurysm.
Title: Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms.
data implicate TEM4 as an essential regulator of the actin cytoskeleton that ensures proper membrane protrusion at the leading edge of migrating cells and efficient cellular migration via suppression of actomyosin contractility
Title: The RhoGEF TEM4 Regulates Endothelial Cell Migration by Suppressing Actomyosin Contractility.
Interaction of the central domain of ARHGEF17 with Mps1.
Title: ARHGEF17 is an essential spindle assembly checkpoint factor that targets Mps1 to kinetochores.
The rho guanine nucleotide exchange factor 17 is drastically alter the effect of cGMP/cGK involving signaling pathways on RhoA-activated downstream effectors.
Title: RhoGEF17, a Rho-specific guanine nucleotide exchange factor activated by phosphorylation via cyclic GMP-dependent kinase Iα.
TEM4 contains a novel actin binding domain and binding to actin is essential for TEM4 subcellular localization and activity.
Title: Identification of a novel actin-binding domain within the Rho guanine nucleotide exchange factor TEM4.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
Identification of ARHGEF17, mutations in melanoma.
Title: Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in melanoma by inhibition of nonsense-mediated mRNA decay.
a Rho-specific GEF with novel structural and regulatory properties and predominant expression in the heart
Title: A mammalian Rho-specific guanine-nucleotide exchange factor (p164-RhoGEF) without a pleckstrin homology domain.

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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

EBI GWAS Catalog

Description
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16016 (e-PCR)
- UniSTS:774

WI-18441 (e-PCR)
- UniSTS:5209

SHGC-112124 (e-PCR)
- UniSTS:182370

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
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 actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho guanine nucleotide exchange factor 17

Names: 164 kDa Rho-specific guanine-nucleotide exchange factor; Rho guanine nucleotide exchange factor (GEF) 17; Rho-specific guanine-nucleotide exchange factor 164 kDa; tumor endothelial marker 4

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.