GeneBe

ARG2

arginase 2

Basic information

Region (hg38): 14:67619920-67651708

Links

ENSG00000081181 ∙ NCBI:384 ∙ OMIM:107830 ∙ HGNC:664 ∙ Uniprot:P78540 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARG2 gene.

  • not_specified (43 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARG2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001172.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
1
clinvar
 3
missense
43
clinvar
1
clinvar
 44
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 43 3 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ARG2protein_codingprotein_codingENST00000261783 831923
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0001820.9761256580901257480.000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3441761890.9300.000009182270
Missense in Polyphen5972.2070.8171842
Synonymous0.1536970.60.9770.00000337739
Loss of Function2.01918.30.4920.00000109202

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001010.000999
Ashkenazi Jewish0.0006950.000695
East Asian0.001740.00174
Finnish0.0001390.000139
European (Non-Finnish)0.0001600.000158
Middle Eastern0.001740.00174
South Asian0.0001960.000196
Other0.0004900.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells (PubMed:27745970). May suppress inflammation-related signaling in asthmatic airway epithelium (PubMed:27214549). May contribute to the immune evasion of H.pylori by restricting M1 macrophage activation and polyamine metabolism (By similarity). In fetal dendritic cells may play a role in promoting immune suppression and T cell TNF-alpha production during gestation (PubMed:28614294). Regulates RPS6KB1 signaling, which promotes endothelial cell senescence and inflammation and implicates NOS3/eNOS dysfunction (PubMed:22928666). Can inhibit endothelial autophagy independently of its enzymatic activity implicating mTORC2 signaling (PubMed:25484082). Involved in vascular smooth muscle cell senescence and apoptosis independently of its enzymatic activity (PubMed:23832324). Since NOS is found in the penile corpus cavernosum smooth muscle, the clitoral corpus cavernosum and the vagina, arginase-2 plays a role in both male and female sexual arousal (PubMed:12859189). {ECO:0000250|UniProtKB:O08691, ECO:0000269|PubMed:12859189, ECO:0000269|PubMed:22928666, ECO:0000269|PubMed:23832324, ECO:0000269|PubMed:25484082, ECO:0000269|PubMed:27214549, ECO:0000269|PubMed:27745970}.;
Pathway
Arginine and proline metabolism - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Arginine biosynthesis - Homo sapiens (human);Amino Acid metabolism;Urea cycle and metabolism of amino groups;Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism;urea cycle;Arginine Proline metabolism;Urea cycle (Consensus)

Recessive Scores

pRec
0.487

Intolerance Scores

loftool
0.378
rvis_EVS
-0.05
rvis_percentile_EVS
50.22

Haploinsufficiency Scores

pHI
0.119
hipred
Y
hipred_score
0.570
ghis
0.509

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.965

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Arg2
Phenotype
homeostasis/metabolism phenotype;

Gene ontology

Biological process
urea cycle;ureteric bud development;adaptive immune response;negative regulation of type 2 immune response;nitric oxide biosynthetic process;striated muscle contraction;arginine catabolic process to ornithine;negative regulation of tumor necrosis factor production;innate immune response;regulation of interleukin-1 beta secretion;negative regulation of macrophage inflammatory protein 1 alpha production;negative regulation of chemokine (C-C motif) ligand 4 production;negative regulation of chemokine (C-C motif) ligand 5 production;negative regulation of defense response to bacterium;regulation of reactive oxygen species biosynthetic process;negative regulation of tumor necrosis factor secretion;negative regulation of interleukin-17 secretion;negative regulation of activated CD8-positive, alpha-beta T cell apoptotic process;negative regulation of CD4-positive, alpha-beta T cell proliferation;negative regulation of interleukin-13 secretion;positive regulation of cellular senescence
Cellular component
cytoplasm;mitochondrion;mitochondrial matrix
Molecular function
arginase activity;manganese ion binding