ASAH2B

Summary

ASAH2B (N-acylsphingosine amidohydrolase 2B, HGNC:23456) is a protein-coding gene on chromosome 10q11.23, encoding Putative inactive neutral ceramidase B (P0C7U1).

Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide catabolic process. Predicted to be located in membrane.

Source: NCBI Gene 653308 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 9 total
• MANE Select transcript: NM_001321958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23456
Approved symbol	ASAH2B
Name	N-acylsphingosine amidohydrolase 2B
Location	10q11.23
Locus type	gene with protein product
Status	Approved
Aliases	bA449O16.3, ASAH2L, bA98I6.3
Ensembl gene	ENSG00000204147
Ensembl biotype	protein_coding
OMIM	610987
Entrez	653308

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000374006, ENST00000374007, ENST00000483649, ENST00000643505, ENST00000643851, ENST00000645350, ENST00000647317, ENST00000853346, ENST00000853347, ENST00000853348, ENST00000929203, ENST00000929204

RefSeq mRNA: 5 — MANE Select: NM_001321958 NM_001079516, NM_001321957, NM_001321958, NM_001321959, NM_001321960

CCDS: CCDS31203, CCDS81465

Canonical transcript exons

ENST00000647317 — 6 exons

Exon	Start	End
ENSE00002491136	50745128	50745274
ENSE00003462560	50752468	50752556
ENSE00003468480	50742915	50743010
ENSE00003571763	50749343	50749402
ENSE00003814549	50739936	50739983
ENSE00003819918	50754551	50759255

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 87.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3535 / max 208.2075, expressed in 1498 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104912	6.3535	1498

Top tissues by expression

138 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	87.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.91	gold quality
islet of Langerhans	UBERON:0000006	81.31	gold quality
cortical plate	UBERON:0005343	81.28	gold quality
ganglionic eminence	UBERON:0004023	79.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.93	gold quality
superior frontal gyrus	UBERON:0002661	75.36	gold quality
liver	UBERON:0002107	75.07	gold quality
primary visual cortex	UBERON:0002436	74.83	gold quality
pancreas	UBERON:0001264	74.76	gold quality
rectum	UBERON:0001052	74.74	gold quality
adrenal tissue	UBERON:0018303	74.66	gold quality
ventricular zone	UBERON:0003053	74.44	gold quality
stromal cell of endometrium	CL:0002255	74.35	gold quality
prefrontal cortex	UBERON:0000451	73.74	gold quality
endometrium	UBERON:0001295	73.67	gold quality
left adrenal gland	UBERON:0001234	73.62	gold quality
right adrenal gland	UBERON:0001233	73.47	gold quality
adrenal gland	UBERON:0002369	73.46	gold quality
right adrenal gland cortex	UBERON:0035827	73.42	gold quality
right lobe of liver	UBERON:0001114	73.35	gold quality
left adrenal gland cortex	UBERON:0035825	72.96	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	72.53	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.29	gold quality
smooth muscle tissue	UBERON:0001135	72.19	gold quality
frontal cortex	UBERON:0001870	72.11	gold quality
body of pancreas	UBERON:0001150	72.04	gold quality
muscle of leg	UBERON:0001383	71.95	gold quality
thymus	UBERON:0002370	71.87	gold quality
gastrocnemius	UBERON:0001388	71.74	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting ASAH2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-605-3P	99.88	69.22	1833

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	asah2	ENSDARG00000012829
mus_musculus	Asah2	ENSMUSG00000024887
rattus_norvegicus	Asah2	ENSRNOG00000012196
drosophila_melanogaster	CDase	FBGN0039774

Paralogs (1): ASAH2 (ENSG00000188611)

Protein

Protein identifiers

Putative inactive neutral ceramidase B — P0C7U1 (reviewed: P0C7U1)

Alternative names: ASAH2-like protein, Putative inactive N-acylsphingosine amidohydrolase 2B, Putative inactive non-lysosomal ceramidase B

All UniProt accessions (3): A0A2R8Y609, A0A2R8YGJ0, P0C7U1

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Ubiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother.

Miscellaneous. ASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence plus other putative translation start site that might lead to several potential ORFs.

Similarity. Belongs to the neutral ceramidase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P0C7U1-1	1	yes
P0C7U1-2	2

RefSeq proteins (5): NP_001072984, NP_001308886, NP_001308887, NP_001308888, NP_001308889 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006823	Ceramidase_alk	Family
IPR031331	NEUT/ALK_ceramidase_C	Domain
IPR038445	NCDase_C_sf	Homologous_superfamily

Pfam: PF17048

UniProt features (2 total): chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C7U1-F1	85.89	0.71

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): GOBP_CERAMIDE_CATABOLIC_PROCESS, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOID_METABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_DIOL_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_CERAMIDE_METABOLIC_PROCESS, GOBP_SPHINGOLIPID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS

GO Biological Process (3): sphingosine biosynthetic process (GO:0046512), ceramide biosynthetic process (GO:0046513), ceramide catabolic process (GO:0046514)

GO Molecular Function (1): N-acylsphingosine amidohydrolase activity (GO:0017040)

GO Cellular Component (2): cytoplasm (GO:0005737), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ceramide metabolic process	2
sphingosine metabolic process	1
diol biosynthetic process	1
sphingoid biosynthetic process	1
sphingolipid biosynthetic process	1
sphingolipid catabolic process	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	1
intracellular anatomical structure	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASAH2B	ASAH1	Q13510	894
ASAH2B	ACER2	Q5QJU3	587
ASAH2B	ACER1	Q8TDN7	577
ASAH2B	AGAP6	Q5VW22	448
ASAH2B	AKR1C8	Q5T2L2	433
ASAH2B	SPTLC1	O15269	421
ASAH2B	ANTXRL	A6NF34	417
ASAH2B	FAM25A	B3EWG3	399
ASAH2B	FRMPD2	Q68DX3	395
ASAH2B	DENND6A	Q8IWF6	385
ASAH2B	TMEM273	Q5T292	370
ASAH2B	LRRC18	Q8N456	369
ASAH2B	PTPN20	Q4JDL3	369
ASAH2B	HMSD	A8MTL9	356
ASAH2B	A0A087WTP8	A0A087WTP8	352

IntAct

0 interactions, top by confidence:

BioGRID (2): ASAH2B (Affinity Capture-RNA), ASAH2B (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9XBC9, A0A0J9XL55, A0A0S2GKZ1, A0A1C9ZMC3, A0A1Y2IY60, A0A218MJF1, A0A223GEC9, A0A2H3EDS0, A0A384JXL6, A0A384JZ02, A0A4P8PKE4, A0A5C1IY53, A0A5J6BJN5, A0A5J6BJP2, A0A5J6BJT0, A0A5J6BJT1, A0A5J6BJT3, A0A5N6UNY1, A0A5N6UWA3, A0A5N6V3W5, A0A6C0M6J9, A0A7H8RFC2, B2ADG1, B2AUV0, B2B403, C8V4I9, C8V530, D8Q364, G0R6T8, G2Q9T3, G2QAB5, G2RB72, G2RGE5, G2RGE6, G2X4G1, G3XAP7, H1AE14, J9VH79, K5VN09, O14405

Diamond homologs: F4HQM3, F4KHQ8, O06769, P0C7U1, Q0JL46, Q29C43, Q304B9, Q54BK2, Q55G11, Q5W7F1, Q91XT9, Q9I596, Q9JHE3, Q9NR71, Q9VA70

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

9 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1913 predictions. Top by Δscore:

Variant	Effect	Δscore
10:50752462:TTTCA:T	acceptor_loss	1.0000
10:50752463:TTCA:T	acceptor_loss	1.0000
10:50752464:TCAG:T	acceptor_loss	1.0000
10:50752465:CA:C	acceptor_loss	1.0000
10:50752466:A:AG	acceptor_gain	1.0000
10:50752466:A:AT	acceptor_loss	1.0000
10:50752467:G:GG	acceptor_gain	1.0000
10:50754549:A:AG	acceptor_gain	1.0000
10:50754550:G:GG	acceptor_gain	1.0000
10:50754550:GTTTT:G	acceptor_gain	1.0000
10:50810043:C:CC	acceptor_gain	1.0000
10:50742994:C:G	donor_gain	0.9900
10:50749337:TTTCA:T	acceptor_loss	0.9900
10:50749338:TTCA:T	acceptor_loss	0.9900
10:50749339:TCA:T	acceptor_loss	0.9900
10:50749340:CAGG:C	acceptor_loss	0.9900
10:50749341:A:AT	acceptor_loss	0.9900
10:50749342:G:T	acceptor_loss	0.9900
10:50752467:GA:G	acceptor_gain	0.9900
10:50752467:GACCC:G	acceptor_gain	0.9900
10:50752555:CGG:C	donor_loss	0.9900
10:50752556:GGTGA:G	donor_loss	0.9900
10:50752557:G:GC	donor_loss	0.9900
10:50752557:G:GG	donor_gain	0.9900
10:50752558:T:A	donor_loss	0.9900
10:50752559:G:GT	donor_loss	0.9900
10:50754543:A:AG	acceptor_gain	0.9900
10:50754544:T:G	acceptor_gain	0.9900
10:50754546:A:AG	acceptor_gain	0.9900
10:50754548:CAGT:C	acceptor_loss	0.9900

AlphaMissense

1034 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:50754600:T:A	W120R	0.990
10:50754600:T:C	W120R	0.990
10:50749364:T:C	F61L	0.983
10:50749366:T:A	F61L	0.983
10:50749366:T:G	F61L	0.983
10:50745233:T:C	F40L	0.977
10:50745235:C:A	F40L	0.977
10:50745235:C:G	F40L	0.977
10:50754602:G:C	W120C	0.977
10:50754602:G:T	W120C	0.977
10:50754699:T:C	F153L	0.976
10:50754701:T:A	F153L	0.976
10:50754701:T:G	F153L	0.976
10:50752556:G:C	R103P	0.975
10:50754720:T:C	F160L	0.974
10:50754722:T:A	F160L	0.974
10:50754722:T:G	F160L	0.974
10:50752480:T:C	F78L	0.973
10:50752482:C:A	F78L	0.973
10:50752482:C:G	F78L	0.973
10:50749365:T:C	F61S	0.967
10:50754601:G:C	W120S	0.966
10:50752521:G:C	W91C	0.965
10:50752521:G:T	W91C	0.965
10:50754588:G:C	A116P	0.961
10:50752519:T:A	W91R	0.958
10:50752519:T:C	W91R	0.958
10:50745237:G:A	G41E	0.955
10:50745237:G:T	G41V	0.952
10:50752543:T:C	S99P	0.951

dbSNP variants (sampled 300 via entrez): RS1000184813 (10:50755517 C>T), RS1000319728 (10:50756137 A>G), RS1000522369 (10:50749656 T>C,G), RS1000654967 (10:50750034 A>C), RS1001489951 (10:50738205 G>C), RS1001517661 (10:50743318 G>A), RS1001653166 (10:50743720 G>A), RS1001705935 (10:50756199 T>C), RS1001861502 (10:50742243 C>T), RS1002197749 (10:50756721 AT>A), RS1002398866 (10:50742473 G>A), RS1002431839 (10:50750841 TCTTCTA>T), RS1002520215 (10:50745661 TG>T,TGG), RS1002656249 (10:50746192 A>G), RS1002794359 (10:50758526 G>A)

Disease associations

OMIM: gene MIM:610987 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002830_13	Urate levels in lean individuals	1.000000e-06
GCST002930_9	Cobalt levels	3.000000e-06
GCST007876_132	Estimated glomerular filtration rate	1.000000e-10
GCST010173_26	Triglyceride levels	4.000000e-19
GCST010204_179	Low density lipoprotein cholesterol levels	4.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Neutral ceramidases

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	5
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
torcetrapib	increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Acetaminophen	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression, affects cotreatment	1
Dimethyl Sulfoxide	affects expression	1
Doxorubicin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.