SERHL2

Summary

SERHL2 (serine hydrolase like 2, HGNC:29446) is a protein-coding gene on chromosome 22q13.2, encoding Serine hydrolase-like protein 2 (Q9H4I8). Probable serine hydrolase.

Predicted to enable hydrolase activity. Predicted to be located in cytoplasmic vesicle.

Source: NCBI Gene 253190 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_014509

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29446
Approved symbol	SERHL2
Name	serine hydrolase like 2
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183569
Ensembl biotype	protein_coding
OMIM	619045
Entrez	253190

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000327678, ENST00000335879, ENST00000340239, ENST00000407614, ENST00000416156, ENST00000447870, ENST00000472589, ENST00000477564, ENST00000527167, ENST00000534080, ENST00000876812, ENST00000876813, ENST00000968683, ENST00000968684, ENST00000968685, ENST00000968686, ENST00000968687, ENST00000968688

RefSeq mRNA: 2 — MANE Select: NM_014509 NM_001284334, NM_014509

CCDS: CCDS14037, CCDS63498

Canonical transcript exons

ENST00000327678 — 12 exons

Exon	Start	End
ENSE00002518450	42555664	42555705
ENSE00003489840	42558348	42558457
ENSE00003495681	42566304	42566338
ENSE00003523517	42556514	42556588
ENSE00003563549	42555232	42555345
ENSE00003597860	42572436	42572529
ENSE00003599553	42560186	42560265
ENSE00003606834	42556064	42556083
ENSE00003617300	42573936	42574382
ENSE00003622540	42554938	42555087
ENSE00003631843	42571121	42571203
ENSE00003847516	42553956	42554042

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 91.56.

FANTOM5 (CAGE): breadth broad, TPM avg 2.9797 / max 130.7083, expressed in 669 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192570	2.6368	640
192571	0.3428	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	91.56	gold quality
secondary oocyte	CL:0000655	89.58	gold quality
left ovary	UBERON:0002119	84.81	gold quality
skin of leg	UBERON:0001511	84.26	gold quality
right ovary	UBERON:0002118	83.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.45	gold quality
skin of abdomen	UBERON:0001416	81.61	gold quality
zone of skin	UBERON:0000014	80.33	gold quality
apex of heart	UBERON:0002098	79.62	gold quality
ovary	UBERON:0000992	79.55	gold quality
corpus epididymis	UBERON:0004359	78.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.32	gold quality
cerebellar hemisphere	UBERON:0002245	77.43	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	77.16	gold quality
cerebellar cortex	UBERON:0002129	77.14	gold quality
endocervix	UBERON:0000458	76.99	gold quality
prostate gland	UBERON:0002367	76.76	gold quality
anterior cingulate cortex	UBERON:0009835	76.63	gold quality
cingulate cortex	UBERON:0003027	76.58	gold quality
ectocervix	UBERON:0012249	76.45	gold quality
right frontal lobe	UBERON:0002810	76.38	gold quality
left uterine tube	UBERON:0001303	76.36	gold quality
minor salivary gland	UBERON:0001830	76.18	gold quality
body of uterus	UBERON:0009853	75.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.21	gold quality
spinal cord	UBERON:0002240	75.16	gold quality
cerebellum	UBERON:0002037	75.03	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	75.03	gold quality
prefrontal cortex	UBERON:0000451	74.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting SERHL2, 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-4283	100.00	66.42	2097
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-1287-5P	96.80	65.30	743

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	serhl	ENSDARG00000032340
mus_musculus	Serhl	ENSMUSG00000058586
rattus_norvegicus	Serhl2	ENSRNOG00000022932
drosophila_melanogaster	CG5704	FBGN0026570
drosophila_melanogaster	CG5707	FBGN0026593
drosophila_melanogaster	CG15879	FBGN0035309
drosophila_melanogaster	CG15820	FBGN0035312
drosophila_melanogaster	CG11309	FBGN0037070
drosophila_melanogaster	CG7632	FBGN0037071
caenorhabditis_elegans	C31H5.1	WBGENE00007854
caenorhabditis_elegans		WBGENE00017335
caenorhabditis_elegans		WBGENE00018077
caenorhabditis_elegans		WBGENE00019525
caenorhabditis_elegans		WBGENE00022258
caenorhabditis_elegans		WBGENE00022259
caenorhabditis_elegans		WBGENE00022260

Paralogs (12): ABHD5 (ENSG00000011198), ABHD4 (ENSG00000100439), EPHX3 (ENSG00000105131), ABHD11 (ENSG00000106077), MEST (ENSG00000106484), ABHD14B (ENSG00000114779), EPHX2 (ENSG00000120915), ABHD8 (ENSG00000127220), BPHL (ENSG00000137274), ABHD6 (ENSG00000163686), EPHX4 (ENSG00000172031), ABHD14A (ENSG00000248487)

Protein

Protein identifiers

Serine hydrolase-like protein 2 — Q9H4I8 (reviewed: Q9H4I8)

All UniProt accessions (6): A0A0A0MSL7, A0A140VK89, A6ND93, B4DGG4, Q9H4I8, F2Z3M3

UniProt curated annotations — full annotation on UniProt →

Function. Probable serine hydrolase. May be related to cell muscle hypertrophy.

Subcellular location. Cytoplasm. Perinuclear region. Peroxisome.

Miscellaneous. This gene may have been partially duplicated (see SERHL).

Similarity. Belongs to the AB hydrolase superfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H4I8-1	1	yes
Q9H4I8-2	2
Q9H4I8-3	3

RefSeq proteins (2): NP_001271263, NP_055324* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050266	AB_hydrolase_sf	Family

Pfam: PF00561

UniProt features (9 total): splice variant 3, sequence variant 3, chain 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4I8-F1	90.44	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 108

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 69 (showing top): CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, FUJII_YBX1_TARGETS_UP, GOCC_MICROBODY, DOANE_BREAST_CANCER_CLASSES_UP, chr22q13, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, FEVR_CTNNB1_TARGETS_UP, PLASARI_TGFB1_TARGETS_10HR_DN, FARMER_BREAST_CANCER_APOCRINE_VS_BASAL, ERBB2_UP.V1_UP, LTE2_UP.V1_UP, KRAS.KIDNEY_UP.V1_DN, GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_UP, SUPT16H_TARGET_GENES, SMID_BREAST_CANCER_ERBB2_UP

GO Biological Process (0):

GO Molecular Function (1): hydrolase activity (GO:0016787)

GO Cellular Component (3): peroxisome (GO:0005777), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
catalytic activity	1
microbody	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERHL2	RRP7A	Q9Y3A4	440
SERHL2	OR52N5	Q8NH56	417
SERHL2	SMIM10L2A	P0DMW4	402
SERHL2	NACAD	O15069	379
SERHL2	TRAPPC5	Q8IUR0	375
SERHL2	GOLGA7B	Q2TAP0	367
SERHL2	TEX30	Q5JUR7	367
SERHL2	CSTA	P01040	366
SERHL2	PSRC1	Q6PGN9	360
SERHL2	ABHD6	Q9BV23	359
SERHL2	TMEM45B	Q96B21	348
SERHL2	ZSCAN30	Q86W11	348
SERHL2	ABHD16B	Q9H3Z7	345
SERHL2	FANK1	Q8TC84	335
SERHL2	ALDH18A1	P54886	331

IntAct

3 interactions, top by confidence:

A	B	Type	Score
SERHL2	UBE3A	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): MICAL1 (Affinity Capture-MS), DAAM1 (Affinity Capture-MS), CSNK1G3 (Affinity Capture-MS), PAG1 (Affinity Capture-MS), GNB4 (Affinity Capture-MS), UBE3A (Affinity Capture-MS), SERHL2 (Protein-RNA), DAAM1 (Affinity Capture-MS), UBE3A (Affinity Capture-MS), CSNK1G3 (Affinity Capture-MS), MICAL1 (Affinity Capture-MS), SERHL2 (Affinity Capture-RNA)

ESM2 similar proteins: A0JMZ3, A2T7G9, A6NKP2, A6NNS2, A8E5C5, A9UM79, B0BNF8, B4F753, D3ZGP9, D3ZLY0, O35469, O35719, O54909, O75911, O77769, O88451, O88876, P14893, P22071, P22072, P26149, P26150, P27365, P50170, P55006, Q06136, Q0P5D8, Q15738, Q1RMJ5, Q2KIJ5, Q3U0B3, Q3UFS0, Q3ZBE9, Q59A28, Q5BL28, Q5F477, Q5IFP1, Q5PPL3, Q5RJL2, Q60555

Diamond homologs: A0A2G0QDP0, A2BGU9, C4LA13, I6XU97, O05235, O06734, O18391, P07383, P0A573, P27747, P75311, P9WNH2, P9WNH3, Q1LZ86, Q2Y9Y7, Q54M29, Q57427, Q5ALW7, Q5QZC0, Q5XI64, Q6GLL2, Q7SY73, Q82SL8, Q8R2Y0, Q988D4, Q9BV23, Q9EPB5, Q9H4I8, Q9NQF3, A1KRU9, B4TBH5, B5EZI7, E6MWF8, O35678, P24640, P75333, P91143, Q02104, Q5F641, Q8R431

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	55
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2637 predictions. Top by Δscore:

Variant	Effect	Δscore
22:42554025:G:GG	donor_gain	1.0000
22:42554934:TCAG:T	acceptor_loss	1.0000
22:42554935:CAGGT:C	acceptor_loss	1.0000
22:42554937:G:A	acceptor_loss	1.0000
22:42555085:AAG:A	donor_loss	1.0000
22:42555087:GG:G	donor_loss	1.0000
22:42555088:GT:G	donor_gain	1.0000
22:42555109:G:T	donor_gain	1.0000
22:42555224:T:TA	acceptor_gain	1.0000
22:42555227:TTCA:T	acceptor_loss	1.0000
22:42555229:CAG:C	acceptor_loss	1.0000
22:42555230:A:AG	acceptor_gain	1.0000
22:42555230:AGACT:A	acceptor_loss	1.0000
22:42555231:G:GG	acceptor_gain	1.0000
22:42555231:GA:G	acceptor_gain	1.0000
22:42555231:GAC:G	acceptor_gain	1.0000
22:42555231:GACT:G	acceptor_gain	1.0000
22:42555231:GACTT:G	acceptor_gain	1.0000
22:42555342:GCAG:G	donor_gain	1.0000
22:42555344:AGGTA:A	donor_loss	1.0000
22:42555346:G:GC	donor_loss	1.0000
22:42555346:G:GG	donor_gain	1.0000
22:42555347:T:A	donor_loss	1.0000
22:42558344:TTAGG:T	acceptor_loss	1.0000
22:42558345:TA:T	acceptor_loss	1.0000
22:42558346:AGGAA:A	acceptor_loss	1.0000
22:42558455:GAG:G	donor_gain	1.0000
22:42558455:GAGGT:G	donor_loss	1.0000
22:42558456:AGG:A	donor_loss	1.0000
22:42558458:GT:G	donor_loss	1.0000

AlphaMissense

2069 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:42555252:G:C	D65H	0.984
22:42555057:T:C	F48L	0.980
22:42555059:C:A	F48L	0.980
22:42555059:C:G	F48L	0.980
22:42555024:T:C	C37R	0.970
22:42555019:T:A	V35D	0.968
22:42555244:T:A	V62D	0.968
22:42560243:A:C	R197S	0.968
22:42560243:A:T	R197S	0.968
22:42555253:A:C	D65A	0.966
22:42556526:T:C	F121L	0.966
22:42556528:C:A	F121L	0.966
22:42556528:C:G	F121L	0.966
22:42555026:C:G	C37W	0.965
22:42555700:G:T	S108I	0.961
22:42574017:T:C	F303L	0.961
22:42574019:C:A	F303L	0.961
22:42574019:C:G	F303L	0.961
22:42555268:G:A	G70E	0.960
22:42556548:T:C	L128P	0.959
22:42555047:T:A	N44K	0.958
22:42555047:T:G	N44K	0.958
22:42555253:A:T	D65V	0.958
22:42566329:G:C	R213S	0.956
22:42566329:G:T	R213S	0.956
22:42555267:G:T	G70W	0.955
22:42555681:T:C	F102L	0.955
22:42555683:C:A	F102L	0.955
22:42555683:C:G	F102L	0.955
22:42554986:C:A	A24D	0.954

dbSNP variants (sampled 300 via entrez): RS1000151599 (22:42570040 C>A,G), RS1000503916 (22:42570206 G>A), RS1000524030 (22:42560434 C>G), RS1000651269 (22:42565008 T>C), RS1000743025 (22:42560628 G>A), RS1000940876 (22:42567541 G>A), RS1000993288 (22:42567384 G>T), RS1001105447 (22:42570820 C>A,T), RS1001534226 (22:42553197 G>A), RS1001555477 (22:42573857 AGGGCCCTGACCCCG>A), RS1001558014 (22:42570694 C>G,T), RS1001637725 (22:42560735 T>C), RS1001690104 (22:42560520 C>T), RS1001770087 (22:42565164 C>T), RS1001796135 (22:42564956 C>T)

Disease associations

OMIM: gene MIM:619045 | 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
GCST003123_33	Severe influenza A (H1N1) infection	8.000000e-15
GCST010241_294	Apolipoprotein A1 levels	9.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004614	apolipoprotein A 1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	5
sodium arsenite	affects methylation, decreases expression	2
Nickel	decreases expression	2
aristolochic acid I	increases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
pirinixic acid	increases activity, affects binding, decreases expression	1
beta-lapachone	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
entinostat	increases expression	1
PCI 5002	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Acrolein	increases abundance, affects cotreatment, decreases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Zinc	affects cotreatment, increases expression	1
Isotretinoin	increases expression	1
Acrylamide	increases expression	1
S-Nitrosoglutathione	decreases expression	1
Volatile Organic Compounds	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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