ABHD12B

Summary

ABHD12B (abhydrolase domain containing 12B, HGNC:19837) is a protein-coding gene on chromosome 14q22.1, encoding Protein ABHD12B (Q7Z5M8).

Predicted to enable lysophospholipase activity and monoacylglycerol lipase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane.

Source: NCBI Gene 145447 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_001206673

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19837
Approved symbol	ABHD12B
Name	abhydrolase domain containing 12B
Location	14q22.1
Locus type	gene with protein product
Status	Approved
Aliases	BEM46L3
Ensembl gene	ENSG00000131969
Ensembl biotype	protein_coding
Entrez	145447

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding_CDS_not_defined, 3 protein_coding, 2 nonsense_mediated_decay

ENST00000337334, ENST00000353130, ENST00000382029, ENST00000553715, ENST00000554241, ENST00000554566, ENST00000555292, ENST00000556857, ENST00000557345, ENST00000942103

RefSeq mRNA: 3 — MANE Select: NM_001206673 NM_001206673, NM_181533, NM_181814

CCDS: CCDS55916, CCDS9702

Canonical transcript exons

ENST00000337334 — 13 exons

Exon	Start	End
ENSE00001374613	50877952	50878079
ENSE00003468490	50903389	50903467
ENSE00003483839	50880452	50880571
ENSE00003485773	50888824	50888903
ENSE00003487199	50885766	50885895
ENSE00003586572	50886647	50886684
ENSE00003587508	50904074	50904192
ENSE00003598992	50881596	50881626
ENSE00003601107	50885614	50885659
ENSE00003601581	50901829	50901911
ENSE00003642014	50878745	50878847
ENSE00003667385	50904339	50904970
ENSE00003850423	50872053	50872278

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 89.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3167 / max 47.8901, expressed in 105 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139514	0.2097	78
139512	0.0541	17
139513	0.0528	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	89.52	gold quality
skin of leg	UBERON:0001511	88.59	gold quality
skin of abdomen	UBERON:0001416	87.22	gold quality
oocyte	CL:0000023	87.17	gold quality
zone of skin	UBERON:0000014	86.72	gold quality
bronchial epithelial cell	CL:0002328	84.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.12	gold quality
putamen	UBERON:0001874	83.95	gold quality
secondary oocyte	CL:0000655	83.46	gold quality
bronchus	UBERON:0002185	83.24	gold quality
caudate nucleus	UBERON:0001873	82.14	gold quality
monocyte	CL:0000576	81.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.65	gold quality
leukocyte	CL:0000738	80.22	gold quality
mucosa of paranasal sinus	UBERON:0005030	79.56	gold quality
prefrontal cortex	UBERON:0000451	79.28	gold quality
germinal epithelium of ovary	UBERON:0001304	79.21	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.81	gold quality
anterior cingulate cortex	UBERON:0009835	78.55	gold quality
mucosa of transverse colon	UBERON:0004991	78.28	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.84	gold quality
right frontal lobe	UBERON:0002810	77.62	gold quality
upper leg skin	UBERON:0004262	76.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.51	gold quality
lateral nuclear group of thalamus	UBERON:0002736	76.51	gold quality
calcaneal tendon	UBERON:0003701	76.30	gold quality
nucleus accumbens	UBERON:0001882	75.52	gold quality
rectum	UBERON:0001052	74.58	gold quality
frontal cortex	UBERON:0001870	73.34	gold quality
neocortex	UBERON:0001950	73.10	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	331.94
E-ANND-3	yes	5.65
E-MTAB-3929	no	245.92
E-MTAB-7303	no	198.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting ABHD12B, 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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-1304-3P	98.29	66.44	1207
HSA-MIR-4299	98.28	66.96	850
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-376A-2-5P	96.43	68.06	715
HSA-MIR-203A-5P	96.33	65.03	714

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-117n7.7	ENSDARG00000069828
danio_rerio	abhd12	ENSDARG00000071004
danio_rerio	si:ch211-117n7.6	ENSDARG00000092071
mus_musculus	Abhd12b	ENSMUSG00000090121
rattus_norvegicus	Abhd12b	ENSRNOG00000026855
drosophila_melanogaster	CG15111	FBGN0034419
drosophila_melanogaster	CG1309	FBGN0035519
caenorhabditis_elegans		WBGENE00008497
caenorhabditis_elegans		WBGENE00008498
caenorhabditis_elegans		WBGENE00018131
caenorhabditis_elegans		WBGENE00022393

Paralogs (7): ABHD12 (ENSG00000100997), ABHD17B (ENSG00000107362), ABHD17A (ENSG00000129968), ABHD17C (ENSG00000136379), ABHD13 (ENSG00000139826), ABHD16B (ENSG00000183260), ABHD16A (ENSG00000204427)

Protein

Protein identifiers

Protein ABHD12B — Q7Z5M8 (reviewed: Q7Z5M8)

Alternative names: Abhydrolase domain-containing protein 12B, Alpha/beta hydrolase domain-containing protein 12B

All UniProt accessions (1): Q7Z5M8

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the serine esterase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z5M8-1	1, Variant 1	yes
Q7Z5M8-2	2, Variant 3
Q7Z5M8-4	4, Variant 4
Q7Z5M8-5	5

RefSeq proteins (3): NP_001193602, NP_853511, NP_861535 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022742	ABHD17C-like	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF12146

UniProt features (8 total): splice variant 5, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5M8-F1	87.88	0.66

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_CATABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_CATABOLIC_PROCESS, GOBP_PHOSPHATIDYLSERINE_METABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_PHOSPHOLIPID_CATABOLIC_PROCESS, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS

GO Biological Process (2): phosphatidylserine catabolic process (GO:0006660), monoacylglycerol catabolic process (GO:0052651)

GO Molecular Function (4): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), monoacylglycerol lipase activity (GO:0047372), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (1): endoplasmic reticulum membrane (GO:0005789)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylserine metabolic process	1
modified amino acid catabolic process	1
glycerophospholipid catabolic process	1
monoacylglycerol metabolic process	1
acylglycerol catabolic process	1
lysophospholipase A1 activity	1
lipase activity	1
carboxylic ester hydrolase activity	1
binding	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

486 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD12B	ABHD16B	Q9H3Z7	676
ABHD12B	ABHD14A	Q9BUJ0	596
ABHD12B	AP3B2	Q13367	581
ABHD12B	CLEC19A	Q6UXS0	578
ABHD12B	ABHD16A	O95870	577
ABHD12B	WHAMM	Q8TF30	571
ABHD12B	ABHD6	Q9BV23	558
ABHD12B	ABHD10	Q9NUJ1	548
ABHD12B	ABHD8	Q96I13	527
ABHD12B	ABHD4	Q8TB40	518
ABHD12B	ABHD14B	Q96IU4	506
ABHD12B	ABHD1	Q96SE0	490
ABHD12B	ABHD11	Q8NFV4	480
ABHD12B	ABHD3	Q8WU67	480
ABHD12B	ABHD15	Q6UXT9	478

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ABHD12B	THRAP3	psi-mi:“MI:0915”(physical association)	0.400
ABHD12B	CD58	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (6): CD58 (Affinity Capture-MS), CD58 (Affinity Capture-MS), THRAP3 (Proximity Label-MS), ABHD12B (Affinity Capture-MS), CD58 (Affinity Capture-MS), ABHD12B (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IMY7, A0A0R4IY06, A0JPF9, A2AP18, A5PJN5, C0IN03, D2KX21, E1BVR9, E9PYK3, F1ND48, O00534, O75038, O94952, O95237, P0C1Q3, P53817, Q1LWG4, Q1LZ50, Q32PY6, Q4R3W5, Q4R6L3, Q5M7X9, Q5R5S1, Q5RJG7, Q5S6T3, Q5T8I9, Q6DC39, Q75WE7, Q7Z5M8, Q7ZU92, Q8BYI6, Q8C0L6, Q8CAE2, Q8CAS9, Q8K3R3, Q8NHH9, Q8SPR7, Q8VDH1, Q90678, Q93V51

Diamond homologs: B4F753, G2JHL6, O34705, P29368, P42840, P9WLC6, P9WLC7, Q08C93, Q08DW9, Q32LS6, Q4R766, Q5ZIN0, Q5ZJ01, Q5ZJL8, Q6AYT7, Q6DCC5, Q6DEY3, Q6IRP4, Q7Z5M8, Q80UX8, Q8N2K0, Q99390, Q99LR1, O07427, O94305, P28321, Q55EQ3, Q8Z4M8, Q8ZN39, A0A084R1K6, A5PKD9, B5DFK7, P0CU85, P54069, P77538, Q21221, Q2HJ19, Q5XIJ5, Q5ZJX1, Q6DD70

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1732 predictions. Top by Δscore:

Variant	Effect	Δscore
14:50872274:CTGCG:C	donor_gain	1.0000
14:50872275:TGCG:T	donor_gain	1.0000
14:50872276:GCG:G	donor_gain	1.0000
14:50872276:GCGG:G	donor_gain	1.0000
14:50872277:CG:C	donor_gain	1.0000
14:50872277:CGGT:C	donor_loss	1.0000
14:50872278:GG:G	donor_gain	1.0000
14:50872278:GGT:G	donor_loss	1.0000
14:50872279:G:GG	donor_gain	1.0000
14:50872279:GTGA:G	donor_loss	1.0000
14:50872280:T:G	donor_loss	1.0000
14:50872281:GAGTA:G	donor_loss	1.0000
14:50881581:A:AG	acceptor_gain	1.0000
14:50881582:A:G	acceptor_gain	1.0000
14:50888816:A:AG	acceptor_gain	1.0000
14:50888817:T:G	acceptor_gain	1.0000
14:50888821:A:AG	acceptor_gain	1.0000
14:50888821:AAG:A	acceptor_gain	1.0000
14:50888822:A:G	acceptor_gain	1.0000
14:50888875:TTGC:T	donor_gain	1.0000
14:50888899:TAAAG:T	donor_loss	1.0000
14:50888900:AAAG:A	donor_loss	1.0000
14:50888901:AAGG:A	donor_loss	1.0000
14:50888902:AGGTG:A	donor_loss	1.0000
14:50888903:GG:G	donor_loss	1.0000
14:50888905:T:A	donor_loss	1.0000
14:50901826:TAG:T	acceptor_loss	1.0000
14:50901827:A:AG	acceptor_gain	1.0000
14:50901827:AGA:A	acceptor_loss	1.0000
14:50901828:G:GG	acceptor_gain	1.0000

AlphaMissense

2379 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:50885768:T:C	F179L	0.992
14:50885770:T:A	F179L	0.992
14:50885770:T:G	F179L	0.992
14:50885882:T:C	S217P	0.992
14:50888845:T:A	V241D	0.988
14:50903415:T:C	L297P	0.987
14:50885873:T:A	W214R	0.986
14:50885873:T:C	W214R	0.986
14:50885877:G:A	G215D	0.984
14:50885889:G:A	G219D	0.984
14:50885889:G:T	G219V	0.983
14:50885888:G:C	G219R	0.982
14:50888859:T:C	F246L	0.982
14:50888861:T:A	F246L	0.982
14:50888861:T:G	F246L	0.982
14:50888838:G:C	A239P	0.981
14:50881596:G:C	R152S	0.979
14:50881596:G:T	R152S	0.979
14:50885876:G:C	G215R	0.978
14:50903412:T:C	L296P	0.977
14:50903435:G:C	D304H	0.976
14:50903391:T:A	V289D	0.975
14:50904343:T:C	F356L	0.975
14:50904345:C:A	F356L	0.975
14:50904345:C:G	F356L	0.975
14:50886663:G:C	A227P	0.974
14:50885639:T:A	V171D	0.973
14:50888853:G:C	A244P	0.973
14:50880556:G:T	G147V	0.972
14:50885632:T:C	F169L	0.972

dbSNP variants (sampled 300 via entrez): RS1000018845 (14:50899550 C>T), RS1000036852 (14:50896265 G>A,C), RS1000040775 (14:50883151 C>T), RS1000097306 (14:50902217 G>A), RS1000164641 (14:50891825 T>C), RS1000182734 (14:50894521 C>A), RS1000210073 (14:50885801 G>A), RS1000262501 (14:50886097 C>T), RS1000314417 (14:50889710 G>A), RS1000520748 (14:50873620 T>G), RS1000573295 (14:50873892 C>T), RS1000654181 (14:50894326 G>T), RS1000752141 (14:50880071 T>C,G), RS1000848884 (14:50903927 C>G), RS1001019837 (14:50886387 C>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008647_47	Urinary sodium excretion	8.000000e-09
GCST012204_1	Rectal cancer	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009282	sodium measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
sodium arsenate	increases abundance, decreases expression	1
terbufos	increases methylation	1
cinnamaldehyde	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
Arsenic Trioxide	decreases reaction, affects binding	1
Arsenic	increases abundance, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Fonofos	increases methylation	1
Fluorouracil	decreases expression	1
Parathion	increases methylation	1
Triclosan	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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