OVCH2

Summary

OVCH2 (ovochymase 2, HGNC:29970) is a protein-coding gene on chromosome 11p15.4, encoding Ovochymase-2 (Q7RTZ1). May be required for sperm ADAM3 processing and consequential sperm fertilizing ability.

Enables serine-type endopeptidase activity. Predicted to be involved in fertilization. Predicted to be located in extracellular region.

Source: NCBI Gene 341277 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_198185

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29970
Approved symbol	OVCH2
Name	ovochymase 2
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	OVTN
Ensembl gene	ENSG00000183378
Ensembl biotype	protein_coding
OMIM	618962
Entrez	341277

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000533663, ENST00000534817, ENST00000612000, ENST00000673880

RefSeq mRNA: 1 — MANE Select: NM_198185 NM_198185

CCDS: CCDS73251

Canonical transcript exons

ENST00000533663 — 16 exons

Exon	Start	End
ENSE00002174880	7695058	7695188
ENSE00002180957	7689924	7690013
ENSE00003576412	7691902	7691995
ENSE00003630032	7691269	7691400
ENSE00003712755	7700296	7700485
ENSE00003716115	7701324	7701475
ENSE00003716621	7706307	7706477
ENSE00003718218	7702157	7702329
ENSE00003718514	7698750	7698773
ENSE00003719826	7695570	7695710
ENSE00003722933	7703698	7703789
ENSE00003725140	7704565	7704674
ENSE00003734344	7696709	7696799
ENSE00003735269	7701716	7701811
ENSE00003751750	7696465	7696589
ENSE00003896831	7689437	7689602

Expression profiles

Bgee: expression breadth ubiquitous, 111 present calls, max score 80.85.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0437 / max 68.4447, expressed in 5 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118478	0.0160	1
118479	0.0157	3
118477	0.0119	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.85	gold quality
skin of abdomen	UBERON:0001416	80.52	gold quality
zone of skin	UBERON:0000014	78.79	gold quality
skin of leg	UBERON:0001511	77.53	gold quality
right lung	UBERON:0002167	74.90	gold quality
adult mammalian kidney	UBERON:0000082	70.42	gold quality
prostate gland	UBERON:0002367	69.58	gold quality
upper lobe of left lung	UBERON:0008952	69.06	gold quality
ascending aorta	UBERON:0001496	68.58	gold quality
thoracic aorta	UBERON:0001515	68.48	gold quality
descending thoracic aorta	UBERON:0002345	68.42	gold quality
lung	UBERON:0002048	67.76	gold quality
kidney	UBERON:0002113	66.99	gold quality
minor salivary gland	UBERON:0001830	65.88	gold quality
saliva-secreting gland	UBERON:0001044	65.85	gold quality
placenta	UBERON:0001987	65.81	gold quality
metanephros cortex	UBERON:0010533	63.65	gold quality
thoracic mammary gland	UBERON:0005200	61.45	gold quality
urinary bladder	UBERON:0001255	60.04	gold quality
skeletal muscle tissue	UBERON:0001134	59.28	gold quality
cortex of kidney	UBERON:0001225	58.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	58.75	gold quality
endocervix	UBERON:0000458	58.17	gold quality
gastrocnemius	UBERON:0001388	57.58	gold quality
fallopian tube	UBERON:0003889	57.21	gold quality
muscle tissue	UBERON:0002385	56.84	gold quality
monocyte	CL:0000576	56.48	gold quality
muscle of leg	UBERON:0001383	56.43	gold quality
right coronary artery	UBERON:0001625	55.74	gold quality
vagina	UBERON:0000996	55.19	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.54
E-MTAB-6058	no	66.68

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ovch2	ENSDARG00000094793
mus_musculus	Ovch2	ENSMUSG00000048236
rattus_norvegicus	Ovch2	ENSRNOG00000019794

Paralogs (3): PRRG3 (ENSG00000130032), PRRG1 (ENSG00000130962), PRRG4 (ENSG00000135378)

Protein

Protein identifiers

Ovochymase-2 — Q7RTZ1 (reviewed: Q7RTZ1)

Alternative names: Oviductin

All UniProt accessions (2): A0A087X1V8, A0A669KBI9

UniProt curated annotations — full annotation on UniProt →

Function. May be required for sperm ADAM3 processing and consequential sperm fertilizing ability. In vitro, has an endopeptidase activity.

Subcellular location. Secreted.

Similarity. Belongs to the peptidase S1 family.

RefSeq proteins (1): NP_937828* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000859	CUB_dom	Domain
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR033116	TRYPSIN_SER	Active_site
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR043504

Pfam: PF00089, PF00431

UniProt features (31 total): sequence variant 9, disulfide bond 8, glycosylation site 4, domain 3, active site 3, signal peptide 1, propeptide 1, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTZ1-F1	80.47	0.46

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 (3): 92 (charge relay system); 142 (charge relay system); 240 (charge relay system)

Ligand- & substrate-binding residues (1): 119

Disulfide bonds (8): 77–93, 176–246, 207–225, 236–265, 311–341, 365–384, 431–458, 485–506

Glycosylation sites (4): 104, 415, 451, 530

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): HNF1_Q6, GOBP_FERTILIZATION, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, SUPT16H_TARGET_GENES, DESCARTES_FETAL_CEREBRUM_LIMBIC_SYSTEM_NEURONS, DESCARTES_FETAL_INTESTINE_SMOOTH_MUSCLE_CELLS, DESCARTES_FETAL_KIDNEY_URETERIC_BUD_CELLS, DESCARTES_FETAL_PLACENTA_SYNCYTIOTROPHOBLASTS_AND_VILLOUS_CYTOTROPHOBLASTS, BDP1_TARGET_GENES, GOMF_SERINE_HYDROLASE_ACTIVITY, GOBP_SEXUAL_REPRODUCTION, GOBP_REPRODUCTIVE_PROCESS, GOMF_ENDOPEPTIDASE_ACTIVITY, KONDO_PROSTATE_CANCER_WITH_H3K27ME3

GO Biological Process (2): proteolysis (GO:0006508), fertilization (GO:0009566)

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), metal ion binding (GO:0046872), peptidase activity (GO:0008233), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
sexual reproduction	1
reproductive process	1
endopeptidase activity	1
serine-type peptidase activity	1
cation binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
serine hydrolase activity	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OVCH2	OR52N1	Q8NH53	648
OVCH2	OR52N5	Q8NH56	645
OVCH2	SLC7A10	Q9NS82	521
OVCH2	TRIB2	Q92519	464
OVCH2	CNTN5	O94779	438
OVCH2	CYB5R2	Q6BCY4	405
OVCH2	OR2T35	Q8NGX2	397
OVCH2	CPXM2	Q8N436	374
OVCH2	SYT6	Q5T7P8	371
OVCH2	OLFML1	Q6UWY5	370
OVCH2	NMRAL1	Q9HBL8	357
OVCH2	WFDC9	Q8NEX5	356
OVCH2	CTBS	Q01459	353
OVCH2	TRIP11	Q15643	349
OVCH2	LCE5A	Q5TCM9	328

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A182C2Z2, A0A1S4GMJ4, A6MFK8, B5G6G5, O15393, O60235, O70244, O96900, P00750, P05156, P11214, P19637, P25723, P29598, P79953, P81428, P82807, P83370, P86091, P97435, P98072, P98073, P98074, P98119, P98121, Q05589, Q14C59, Q17800, Q20176, Q4QXT9, Q58L93, Q58L94, Q5QSK2, Q5R5A4, Q5R8J0, Q61129, Q66TN7, Q6DIV5, Q6IE14, Q6ZMR5

Diamond homologs: A0A126GUP6, A0A182C2Z2, A0A1S4H5M5, A8JUP7, B5U2W0, B7YZU2, F5HKX0, O15393, O35453, O60235, O60259, O97366, P00774, P03951, P03952, P05049, P05981, P08419, P09871, P10323, P13582, P14272, P21902, P23578, P25155, P26262, P28175, P29293, P31394, P33587, P35035, P35036, P35037, P35039, P35041, P35045, P35046, P35047, P40313, P48038

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2118 predictions. Top by Δscore:

Variant	Effect	Δscore
11:7691451:CCA:C	acceptor_gain	1.0000
11:7691452:C:CT	acceptor_gain	1.0000
11:7691452:C:T	acceptor_gain	1.0000
11:7691453:A:AC	acceptor_gain	1.0000
11:7691453:A:C	acceptor_gain	1.0000
11:7691457:C:CT	acceptor_gain	1.0000
11:7691458:A:C	acceptor_gain	1.0000
11:7691458:A:T	acceptor_gain	1.0000
11:7691459:T:C	acceptor_gain	1.0000
11:7691459:T:TC	acceptor_gain	1.0000
11:7691904:ATTT:A	donor_gain	1.0000
11:7691914:T:TA	donor_gain	1.0000
11:7696707:A:AC	donor_gain	1.0000
11:7696708:C:CC	donor_gain	1.0000
11:7691441:C:T	acceptor_gain	0.9900
11:7691442:A:T	acceptor_gain	0.9900
11:7691444:CAGA:C	acceptor_gain	0.9900
11:7691453:A:T	acceptor_gain	0.9900
11:7691458:A:AC	acceptor_gain	0.9900
11:7691660:T:A	donor_gain	0.9900
11:7691994:AG:A	acceptor_gain	0.9900
11:7696708:CTG:C	donor_gain	0.9900
11:7696795:CCAGG:C	acceptor_gain	0.9900
11:7696796:CAGGC:C	acceptor_gain	0.9900
11:7702151:GTTTA:G	donor_loss	0.9900
11:7702152:TTTA:T	donor_loss	0.9900
11:7702153:TTA:T	donor_loss	0.9900
11:7702154:TAC:T	donor_loss	0.9900
11:7702155:A:C	donor_loss	0.9900
11:7702156:C:CG	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000078500 (11:7707281 A>C,G), RS1000230259 (11:7681910 C>T), RS1000455862 (11:7702571 T>C,G), RS1000482087 (11:7678961 A>T), RS1000763760 (11:7704035 C>T), RS1001053811 (11:7687306 G>A), RS1001164234 (11:7693323 A>G), RS1001261401 (11:7693037 A>G), RS1001568578 (11:7696109 G>A), RS1001615462 (11:7684873 C>A,G), RS1001898738 (11:7704369 G>A), RS1002013266 (11:7702041 C>T), RS1002065710 (11:7702374 T>A,C), RS1002169728 (11:7697703 C>T), RS1002218323 (11:7686214 T>C)

Disease associations

OMIM: gene MIM:618962 | 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
GCST000427_2	Waist circumference	5.000000e-06
GCST010463_20	Childhood ALL/LBL (acute lymphoblastic leukemia/lymphoblastic lymphoma) treatment-related venous thromboembolism	5.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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