OVOL3

Summary

OVOL3 (ovo like zinc finger 3, HGNC:14186) is a protein-coding gene on chromosome 19q13.12, encoding Putative transcription factor ovo-like protein 3 (O00110). May act as a transcription regulator.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in epidermal cell differentiation and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 728361 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001302757

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14186
Approved symbol	OVOL3
Name	ovo like zinc finger 3
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	HOVO3
Ensembl gene	ENSG00000105261
Ensembl biotype	protein_coding
OMIM	616442
Entrez	728361

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000585332, ENST00000633214, ENST00000925888

RefSeq mRNA: 1 — MANE Select: NM_001302757 NM_001302757

CCDS: CCDS82333

Canonical transcript exons

ENST00000633214 — 4 exons

Exon	Start	End
ENSE00000698035	36113453	36113711
ENSE00003748129	36112760	36112964
ENSE00003780106	36111369	36111433
ENSE00003783238	36111143	36111296

Expression profiles

Bgee: expression breadth ubiquitous, 108 present calls, max score 68.97.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	68.97	gold quality
left testis	UBERON:0004533	68.01	gold quality
testis	UBERON:0000473	66.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	62.98	gold quality
vastus lateralis	UBERON:0001379	59.82	gold quality
quadriceps femoris	UBERON:0001377	59.78	gold quality
epithelium of bronchus	UBERON:0002031	58.19	gold quality
cerebellar vermis	UBERON:0004720	57.59	gold quality
lower esophagus mucosa	UBERON:0035834	56.98	gold quality
metanephric glomerulus	UBERON:0004736	55.97	gold quality
thymus	UBERON:0002370	55.80	silver quality
frontal pole	UBERON:0002795	50.41	gold quality
cerebellum	UBERON:0002037	50.38	gold quality
sural nerve	UBERON:0015488	50.34	silver quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
cerebellar hemisphere	UBERON:0002245	50.25	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
cerebellar cortex	UBERON:0002129	50.08	gold quality
pituitary gland	UBERON:0000007	49.24	gold quality
adenohypophysis	UBERON:0002196	49.15	gold quality
right hemisphere of cerebellum	UBERON:0014890	48.57	gold quality
mucosa of transverse colon	UBERON:0004991	48.47	gold quality
esophagus mucosa	UBERON:0002469	48.31	gold quality
apex of heart	UBERON:0002098	47.70	gold quality
primary visual cortex	UBERON:0002436	46.87	gold quality
endometrium epithelium	UBERON:0004811	46.85	gold quality
skeletal muscle tissue	UBERON:0001134	45.63	silver quality
skin of abdomen	UBERON:0001416	45.58	gold quality
fundus of stomach	UBERON:0001160	44.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.19

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Molecular phylogeny of OVOL1, OVOL2 and OVOL3 genes illustrates a conserved C2H2 zinc finger domain coupled by hypervariable unstructured regions in humans and other species (PMID:22737237)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	plagx	ENSDARG00000036855
danio_rerio	ovol1a	ENSDARG00000076472
danio_rerio	plagl2	ENSDARG00000076657
danio_rerio	ovol1b	ENSDARG00000078256
mus_musculus	Ovol3	ENSMUSG00000100512
rattus_norvegicus	Ovol3	ENSRNOG00000062751
drosophila_melanogaster	hb	FBGN0001180
drosophila_melanogaster	CG12391	FBGN0033581
caenorhabditis_elegans		WBGENE00001824
caenorhabditis_elegans		WBGENE00003033
caenorhabditis_elegans		WBGENE00012385

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)

Protein

Protein identifiers

Putative transcription factor ovo-like protein 3 — O00110 (reviewed: O00110)

All UniProt accessions (2): O00110, A0AA75L0V4

UniProt curated annotations — full annotation on UniProt →

Function. May act as a transcription regulator.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_001289686* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR027756	Ovo-like	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF13465

UniProt features (8 total): zinc finger region 4, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00110-F1	68.96	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 74 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_KERATINOCYTE_PROLIFERATION, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REGULATION_OF_KERATINOCYTE_PROLIFERATION, GOBP_EPIDERMIS_DEVELOPMENT, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION, GOBP_EPITHELIAL_CELL_PROLIFERATION, GOBP_SKIN_DEVELOPMENT, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS

GO Biological Process (8): regulation of transcription by RNA polymerase II (GO:0006357), epidermal cell differentiation (GO:0009913), negative regulation of signal transduction (GO:0009968), regulation of keratinocyte proliferation (GO:0010837), negative regulation of cell differentiation (GO:0045596), regulation of keratinocyte differentiation (GO:0045616), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of multicellular organismal process (GO:0051241)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
epidermis development	1
epithelial cell differentiation	1
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
keratinocyte proliferation	1
regulation of epithelial cell proliferation	1
cell differentiation	1
regulation of cell differentiation	1
negative regulation of cellular process	1
negative regulation of developmental process	1
keratinocyte differentiation	1
regulation of epidermal cell differentiation	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
multicellular organismal process	1
negative regulation of biological process	1
regulation of multicellular organismal process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OVOL3	PRODH2	Q9UF12	531
OVOL3	TMEM221	A6NGB7	519
OVOL3	SNX32	Q86XE0	494
OVOL3	LHFPL7	Q6ICI0	478
OVOL3	GPR137C	Q8N3F9	477
OVOL3	SDHAF1	A6NFY7	475
OVOL3	BANF2	Q9H503	458
OVOL3	TMEM132E	Q6IEE7	441
OVOL3	KAT14	Q9H8E8	409
OVOL3	RBBP9	O75884	407
OVOL3	EXOC6B	Q9Y2D4	406
OVOL3	GPR162	Q16538	403
OVOL3	TMEM171	Q8WVE6	396
OVOL3	TMEM150C	B9EJG8	390
OVOL3	HLCS	P50747	387

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JNJ4, A2APT9, A2VDT4, A4IHR5, A7UKY7, D3YYM0, F6WEQ6, G5E869, O00110, O00221, O14753, O15015, O70142, O88282, P52746, P98077, Q15654, Q2I689, Q32KV8, Q3U381, Q4R8S8, Q504L7, Q5R4P8, Q6ZN55, Q7TSX9, Q8BI73, Q8BY46, Q8CDC7, Q8CE64, Q8CIV7, Q8IX07, Q8N143, Q96BV0, Q96C00, Q96H86, Q96JB3, Q96T92, Q9BRP0, Q9BU19, Q9DB38

Diamond homologs: A2VDT4, D3YYM0, G5EDU6, O00110, O14753, P51521, Q8CIV7, Q9BRP0, Q9WTJ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

576 predictions. Top by Δscore:

Variant	Effect	Δscore
19:36111431:GCG:G	donor_gain	0.9900
19:36112757:CAGCA:C	acceptor_gain	0.9900
19:36112758:AGCAG:A	acceptor_gain	0.9900
19:36112846:GC:G	acceptor_gain	0.9900
19:36112965:GTGA:G	donor_loss	0.9900
19:36112966:T:A	donor_loss	0.9900
19:36111432:CGGT:C	donor_loss	0.9800
19:36111434:G:GG	donor_gain	0.9800
19:36111434:G:GT	donor_loss	0.9800
19:36111435:T:TT	donor_loss	0.9800
19:36111436:GAGT:G	donor_loss	0.9800
19:36111437:A:AC	donor_loss	0.9800
19:36112965:G:GG	donor_gain	0.9800
19:36112967:GA:G	donor_loss	0.9800
19:36112759:GCAGC:G	acceptor_gain	0.9700
19:36112845:A:AG	acceptor_gain	0.9700
19:36112846:G:GG	acceptor_gain	0.9700
19:36113451:AGG:A	acceptor_gain	0.9700
19:36113452:GGG:G	acceptor_gain	0.9700
19:36111438:G:C	donor_loss	0.9600
19:36112759:GCA:G	acceptor_gain	0.9600
19:36112846:GCGC:G	acceptor_gain	0.9600
19:36112954:G:GT	donor_gain	0.9600
19:36112962:CTG:C	donor_gain	0.9600
19:36113447:GTGCA:G	acceptor_loss	0.9600
19:36113448:TGCAG:T	acceptor_loss	0.9600
19:36113449:GCA:G	acceptor_loss	0.9600
19:36113451:A:C	acceptor_loss	0.9600
19:36113451:AG:A	acceptor_gain	0.9600
19:36113452:GG:G	acceptor_gain	0.9600

AlphaMissense

1238 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:36112919:T:C	F131L	1.000
19:36112921:T:A	F131L	1.000
19:36112921:T:G	F131L	1.000
19:36113491:T:C	F159L	1.000
19:36113493:T:A	F159L	1.000
19:36113493:T:G	F159L	1.000
19:36112835:T:C	F103L	0.999
19:36112837:C:A	F103L	0.999
19:36112837:C:G	F103L	0.999
19:36112862:C:A	H112N	0.999
19:36112864:C:A	H112Q	0.999
19:36112864:C:G	H112Q	0.999
19:36112920:T:C	F131S	0.999
19:36112938:T:C	L137P	0.999
19:36112946:C:A	H140N	0.999
19:36112948:C:A	H140Q	0.999
19:36112948:C:G	H140Q	0.999
19:36112960:C:A	H144Q	0.999
19:36112960:C:G	H144Q	0.999
19:36113464:T:C	F150L	0.999
19:36113466:C:A	F150L	0.999
19:36113466:C:G	F150L	0.999
19:36113470:T:C	C152R	0.999
19:36113491:T:A	F159I	0.999
19:36113492:T:C	F159S	0.999
19:36112854:T:C	L109P	0.998
19:36112862:C:G	H112D	0.998
19:36112876:C:A	H116Q	0.998
19:36112876:C:G	H116Q	0.998
19:36112915:G:C	K129N	0.998

dbSNP variants (sampled 300 via entrez): RS1001002920 (19:36110273 C>T), RS1001321717 (19:36110557 G>A,C), RS1001398030 (19:36110183 C>G,T), RS1003249044 (19:36112913 A>G), RS1003470 (19:36111827 G>A,C), RS1003537878 (19:36112897 G>A), RS1004023331 (19:36109551 T>C), RS1004520639 (19:36109357 C>G), RS1004742307 (19:36109543 G>A), RS1004858966 (19:36113187 A>G), RS1005662525 (19:36113827 A>C), RS1005859356 (19:36112020 T>C,G), RS1006474528 (19:36113972 C>A,T), RS1007269801 (19:36111233 C>T), RS1008374749 (19:36109666 G>A)

Disease associations

OMIM: gene MIM:616442 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
abrine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_HC87	HEK293 eGFP-OVOL3	Transformed cell line	Female

Clinical trials (associated diseases)

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