ARL2 ADP ribosylation factor like GTPase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARL2provided by HGNC
Official Full Name: ADP ribosylation factor like GTPase 2provided by HGNC
Primary source: HGNC:HGNC:693
See related: Ensembl:ENSG00000213465 MIM:601175; AllianceGenome:HGNC:693
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: ARFL2; MRCS1
Summary: This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 49.3), fat (RPKM 49.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65014160..65022184)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65007423..65015448)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (64781632..64789656)

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?

ARL2 is required for homologous recombination repair and colon cancer stem cell survival.
Title: ARL2 is required for homologous recombination repair and colon cancer stem cell survival.
Suppressed microRNA-195-5p expression in mycosis fungoides promotes tumor cell proliferation.
Title: Suppressed microRNA-195-5p expression in mycosis fungoides promotes tumor cell proliferation.
we uncover ARL2 as a novel candidate gene for MRCS syndrome and suggest a mitochondria-related mechanism of the first ARL2 variant through site-directed mutagenesis studies.
Title: Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Results suggest that ELMOD2 is functioning as an effector downstream of ARL2 and upstream of the mitofusins to promote mitochondrial fusion. Data provide insights into the pathway by which mitochondrial fusion is regulated in the cell.
Title: ELMOD2 regulates mitochondrial fusion in a mitofusin-dependent manner, downstream of ARL2.
Decreased ARL2 expression level was clinically correlated to the higher grades and poorer outcomes of glioma patients. ARL2 overexpression attenuated the proliferation, clone formation, migration, invasive and tumorigenic capabilities of glioma cells by regulating the expression of receptor tyrosine kinase AXL.
Title: ARL2 overexpression inhibits glioma proliferation and tumorigenicity via down-regulating AXL.
High ARL2 expression is associated with Osteosarcoma.
Title: MicroRNA-497-5p Suppresses Tumor Cell Growth of Osteosarcoma by Targeting ADP Ribosylation Factor-Like Protein 2.
conclude that the TBCD*ARL2*beta-tubulin complex represents a functional intermediate in the beta-tubulin folding pathway whose activity is regulated by the cycling of nucleotides on ARL2
Title: Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin.
Results identified ARL2 and TBCD, as important in tubulin folding and microtubule dynamics. Both ARL2 and TBCD also localize to centrosomes. A growing body of evidence also has found roles for ARL2 inside mitochondria, as a regulator of mitochondrial fusion, and in the traffic of farnesylated cargos between membranes and specifically to cilia and photoreceptor cells. [review]
Title: Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.
In conclusion, our study revealed that miR-214 acts as a tumor suppressor via inhibiting proliferation, migration and invasion of cervical cancer cells through targeting ARL2, and that both miR-214 and ARL2 may serve as prognostic or therapeutic targets for cervical cancer.
Title: miR-214 down-regulates ARL2 and suppresses growth and invasion of cervical cancer cells.
Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3.
Title: Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Associated conditions

Description	Tests
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 MedGen: C5436769 OMIM: 619082 GeneReviews: Not available	Compare labs

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D11S4597 (e-PCR)
- UniSTS:22844

G33095 (e-PCR)
- UniSTS:51532

D11S4192 (e-PCR), detects polymorphism
- UniSTS:44419

SHGC-172584 (e-PCR)
- UniSTS:182481

Readthrough ARL2-SNX15

Readthrough gene: ARL2-SNX15, Included gene: SNX15

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of protein location in nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell-substrate adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of aerobic respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
NOT located_in cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	IDA Inferred from Direct Assay more info
located_in lateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 2

Names: ADP-ribosylation factor-like 2

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_001199745.2 → NP_001186674.1 ADP-ribosylation factor-like protein 2 isoform 2

See identical proteins and their annotated locations for NP_001186674.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AI631767, BC002530, BG706294, CN338497

Consensus CDS

CCDS55770.1

UniProtKB/Swiss-Prot

P36404

Related

ENSP00000432971.1, ENST00000533729.1

Conserved Domains (2) summary

cd04154
Location:3 → 148

Arl2; Arf-like 2 (Arl2) GTPase

COG1100
Location:13 → 120

Gem1; GTPase SAR1 family domain [General function prediction only]
NM_001667.4 → NP_001658.2 ADP-ribosylation factor-like protein 2 isoform 1

See identical proteins and their annotated locations for NP_001658.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AI631767, BC002530, BG706294

Consensus CDS

CCDS8088.1

UniProtKB/Swiss-Prot

G3V184, P36404, Q9BUK8

UniProtKB/TrEMBL

Q53YD8

Related

ENSP00000246747.4, ENST00000246747.9

Conserved Domains (1) summary

cd04154
Location:3 → 175

Arl2; Arf-like 2 (Arl2) GTPase