ASAH2

N-acylsphingosine amidohydrolase 2

Basic information

Region (hg38): 10:50182778-50279720

Links

ENSG00000188611

∙ NCBI:56624 ∙ OMIM:611202 ∙ HGNC:18860 ∙ Uniprot:Q9NR71 ∙ 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 ASAH2 gene.

not_specified (35 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASAH2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019893.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			34 clinvar	1 clinvar		35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASAH2	protein_coding	protein_coding	ENST00000395526	20	65833

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00427	0.877	124583	9	1156	125748	0.00464

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.346	123	134	0.916	0.00000686	5076
Missense in Polyphen		38	39.644	0.95852		1949
Synonymous	-1.46	62	49.0	1.27	0.00000246	1516
Loss of Function	1.32	5	9.36	0.534	5.62e-7	480

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0131	0.0130
Ashkenazi Jewish	0.00397	0.00398
East Asian	0.000218	0.000217
Finnish	0.00864	0.00863
European (Non-Finnish)	0.00581	0.00578
Middle Eastern	0.000218	0.000217
South Asian	0.000849	0.000850
Other	0.00391	0.00375

dbNSFP

Source: dbNSFP

Function: FUNCTION: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5 (PubMed:10781606, PubMed:26190575). Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16- ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract. {ECO:0000269|PubMed:10781606, ECO:0000269|PubMed:15946935, ECO:0000269|PubMed:16061940, ECO:0000269|PubMed:26190575}.;
Pathway: Sphingolipid signaling pathway - Homo sapiens (human);Sphingolipid metabolism - Homo sapiens (human);Sphingolipid Metabolism;Metabolism of lipids;Metabolism;Glycosphingolipid metabolism;Glycosphingolipid metabolism;Sphingolipid metabolism;sphingosine and sphingosine-1-phosphate metabolism (Consensus)

Recessive Scores

pRec: 0.129

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.112
ghis: 0.405

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.168

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Asah2
Phenotype: homeostasis/metabolism phenotype;

Gene ontology

Biological process: sphingosine metabolic process;ceramide metabolic process;apoptotic process;response to organic substance;long-chain fatty acid biosynthetic process;sphingosine biosynthetic process;ceramide catabolic process
Cellular component: extracellular region;mitochondrion;plasma membrane;integral component of membrane
Molecular function: calcium ion binding;zinc ion binding;N-acylsphingosine amidohydrolase activity;ceramidase activity