ARHGEF19 Rho guanine nucleotide exchange factor 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGEF19provided by HGNC
Official Full Name: Rho guanine nucleotide exchange factor 19provided by HGNC
Primary source: HGNC:HGNC:26604
See related: Ensembl:ENSG00000142632 MIM:612496; AllianceGenome:HGNC:26604
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: WGEF
Summary: Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]
Expression: Ubiquitous expression in skin (RPKM 10.4), thyroid (RPKM 4.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (16197854..16212652, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (15639202..15653982, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (16524349..16539147, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF.
Title: Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF.
ARHGEF19 regulates MAPK/ERK signaling and promotes the progression of small cell lung cancer.
Title: ARHGEF19 regulates MAPK/ERK signaling and promotes the progression of small cell lung cancer.
These findings suggest that ARHGEF19 upregulation, due to the low expression of miR-29 in non-small cell lung cancer tissues, may play a crucial role in non-small cell lung cancer tumorigenesis by activating MAPK signaling
Title: ARHGEF19 interacts with BRAF to activate MAPK signaling during the tumorigenesis of non-small cell lung cancer.
overcomes the suppressive influence of miR-503 in hepatocellular carcinoma cells
Title: miR-503 regulates metastatic function through Rho guanine nucleotide exchanger factor 19 in hepatocellular carcinoma.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of Rho guanine nucleotide exchange factor 19 (ARHGEF19) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ARHGEF19_8138 (e-PCR)
- UniSTS:467563

RH91904 (e-PCR)
- UniSTS:85628

SHGC-77876 (e-PCR)
- UniSTS:96156

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	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	IEA Inferred from Electronic Annotation 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 19

Names: Rho guanine nucleotide exchange factor (GEF) 19; ephexin-2; ephexin2; weakly similar to Rho GEF

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.

mRNA and Protein(s)

NM_153213.5 → NP_694945.2 rho guanine nucleotide exchange factor 19

Status: VALIDATED

Source sequence(s)

AK297707, AL137736, BC040640

Consensus CDS

CCDS170.1

UniProtKB/Swiss-Prot

A6NJ04, Q5TEV2, Q6PJQ4, Q8IW93, Q8N244

UniProtKB/TrEMBL

A0A2X0SFB1

Related

ENSP00000270747.3, ENST00000270747.8

Conserved Domains (4) summary

cd11940
Location:719 → 773

SH3_ARHGEF5_19; Src homology 3 domain of the Rho guanine nucleotide exchange factors ARHGEF5 and ARHGEF19

cd01221
Location:580 → 706

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

pfam00621
Location:382 → 558

RhoGEF; RhoGEF domain

cl28033
Location:10 → 353

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

16197854..16212652 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540706.4 → XP_011539008.1 rho guanine nucleotide exchange factor 19 isoform X1

UniProtKB/Swiss-Prot

A6NJ04, Q5TEV2, Q6PJQ4, Q8IW93, Q8N244

UniProtKB/TrEMBL

A0A2X0SFB1

Conserved Domains (4) summary

cd11940
Location:719 → 773

SH3_ARHGEF5_19; Src homology 3 domain of the Rho guanine nucleotide exchange factors ARHGEF5 and ARHGEF19

cd01221
Location:580 → 706

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

pfam00621
Location:382 → 558

RhoGEF; RhoGEF domain

cl28033
Location:10 → 353

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region