RGL4 ral guanine nucleotide dissociation stimulator like 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RGL4provided by HGNC
Official Full Name: ral guanine nucleotide dissociation stimulator like 4provided by HGNC
Primary source: HGNC:HGNC:31911
See related: Ensembl:ENSG00000159496 MIM:612214; AllianceGenome:HGNC:31911
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: Rgr
Summary: This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in bone marrow (RPKM 20.9), appendix (RPKM 6.7) and 23 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q11.23

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23691013..23699168)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24138214..24146366)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24033200..24041355)

Chromosome 22 - NC_000022.11 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?

Low expression of RGL4 is associated with a poor prognosis and immune infiltration in lung adenocarcinoma patients.
Title: Low expression of RGL4 is associated with a poor prognosis and immune infiltration in lung adenocarcinoma patients.
Human rgr: transforming activity and alteration in T-cell malignancies [rgr: ralGDS-related]
Title: Human rgr: transforming activity and alteration in T-cell malignancies.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S608 (e-PCR)
- UniSTS:38754

AF021122 (e-PCR)
- UniSTS:38301

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ral-GDS-related protein

Names: Ral-GDS related protein Rgr; RalGDS related oncogene; ralGDS-like 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.

mRNA and Protein(s)

NM_001329424.3 → NP_001316353.1 ral-GDS-related protein isoform 1

Status: REVIEWED

Source sequence(s)

AP000347

UniProtKB/TrEMBL

E7EPT8

Related

ENSP00000402142.1, ENST00000423392.5
NM_001329425.2 → NP_001316354.1 ral-GDS-related protein isoform 3

Status: REVIEWED

Source sequence(s)

AY101396, HY101412

UniProtKB/Swiss-Prot

Q8IZJ4

Conserved Domains (1) summary

cl02485
Location:5 → 88

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
NM_153615.2 → NP_705843.1 ral-GDS-related protein isoform 2

See identical proteins and their annotated locations for NP_705843.1

Status: REVIEWED

Source sequence(s)

AP000347

Consensus CDS

CCDS13811.1

UniProtKB/Swiss-Prot

Q495L8, Q8IZJ4

UniProtKB/TrEMBL

E7EPT8

Related

ENSP00000290691.5, ENST00000290691.10

Conserved Domains (1) summary

cd00155
Location:216 → 467

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...