DDAH2

dimethylarginine dimethylaminohydrolase 2

Basic information

Region (hg38): 6:31727037-31730617

Links

ENSG00000213722 ∙ NCBI:23564 ∙ OMIM:604744 ∙ HGNC:2716 ∙ Uniprot:O95865 ∙ 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 DDAH2 gene.

• not provided (2 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDAH2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1		1	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	1	0	2

Variants in DDAH2

This is a list of pathogenic ClinVar variants found in the DDAH2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-31727289-C-A		not specified	Uncertain significance (Feb 27, 2024)
6-31727677-T-C		not specified	Uncertain significance (Mar 04, 2024)
6-31728458-G-A		not specified	Uncertain significance (Jul 13, 2021)
6-31728468-C-G		not specified	Uncertain significance (Jan 16, 2024)
6-31728636-C-G			Benign (Aug 01, 2018)
6-31729151-G-C			Benign (Apr 24, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDAH2	protein_coding	protein_coding	ENST00000375789	6	3580

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0138	0.959	123477	0	11	123488	0.0000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.31	102	192	0.530	0.0000124	1777
Missense in Polyphen		40	85.12	0.46993		784
Synonymous	2.27	60	86.9	0.690	0.00000589	672
Loss of Function	1.92	5	12.3	0.408	7.02e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000182
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000271	0.0000271
Middle Eastern	0.000110	0.000109
South Asian	0.0000330	0.0000329
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. {ECO:0000269|PubMed:10493931}.
• Pathway: Metabolism of nitric oxide;eNOS activation;eNOS activation and regulation;Metabolism (Consensus)

Intolerance Scores

• loftool: 0.0595
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.209
• hipred: Y
• hipred_score: 0.662
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.998

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ddah2

Gene ontology

• Biological process: citrulline metabolic process;arginine metabolic process;arginine catabolic process;nitric oxide biosynthetic process;nitric oxide mediated signal transduction;negative regulation of apoptotic process;positive regulation of nitric oxide biosynthetic process;regulation of nitric-oxide synthase activity
• Cellular component: mitochondrion;microtubule organizing center;cytosol;extracellular exosome
• Molecular function: catalytic activity;protein binding;dimethylargininase activity;amino acid binding