FRG2C

Summary

FRG2C (FSHD region gene 2 family member C, HGNC:33626) is a protein-coding gene on chromosome 3p12.3, encoding Protein FRG2-like-2 (A6NGY1).

Predicted to be located in nucleus.

Source: NCBI Gene 100288801 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_001124759

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33626
Approved symbol	FRG2C
Name	FSHD region gene 2 family member C
Location	3p12.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172969
Ensembl biotype	protein_coding
Entrez	100288801

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000308062, ENST00000464571

RefSeq mRNA: 2 — MANE Select: NM_001124759 NM_001124759, NM_001410775

CCDS: CCDS43108, CCDS93313

Canonical transcript exons

ENST00000308062 — 4 exons

Exon	Start	End
ENSE00002253260	75664819	75664896
ENSE00002334376	75665126	75665203
ENSE00003920067	75665527	75667173
ENSE00003921661	75664328	75664557

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 58.42.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0772 / max 22.8407, expressed in 25 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37343	0.0772	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.42	gold quality
stromal cell of endometrium	CL:0002255	49.17	gold quality
sural nerve	UBERON:0015488	48.28	gold quality
colonic epithelium	UBERON:0000397	46.51	gold quality
adult mammalian kidney	UBERON:0000082	45.02	gold quality
cortex of kidney	UBERON:0001225	44.51	gold quality
kidney	UBERON:0002113	44.38	gold quality
metanephros cortex	UBERON:0010533	42.60	gold quality
tonsil	UBERON:0002372	41.48	gold quality
testis	UBERON:0000473	41.07	gold quality
right testis	UBERON:0004534	41.05	gold quality
left testis	UBERON:0004533	40.84	gold quality
cortical plate	UBERON:0005343	40.05	gold quality
bone marrow cell	CL:0002092	37.96	gold quality
lower esophagus mucosa	UBERON:0035834	37.65	gold quality
esophagus mucosa	UBERON:0002469	37.38	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
endometrium	UBERON:0001295	36.23	gold quality
vagina	UBERON:0000996	35.87	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
prefrontal cortex	UBERON:0000451	34.82	gold quality
mucosa of transverse colon	UBERON:0004991	34.53	gold quality
right coronary artery	UBERON:0001625	34.30	gold quality
muscle tissue	UBERON:0002385	34.07	gold quality
bone marrow	UBERON:0002371	33.80	gold quality
urinary bladder	UBERON:0001255	33.62	gold quality
lymph node	UBERON:0000029	33.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	33.47	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
calcaneal tendon	UBERON:0003701	33.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.10

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Frg2f1	ENSMUSG00000087385

Paralogs (2): FRG2 (ENSG00000205097), FRG2B (ENSG00000225899)

Protein

Protein identifiers

Protein FRG2-like-2 — A6NGY1 (reviewed: A6NGY1)

Alternative names: FSHD region gene 2 protein family member C, HSA3-FRG2

All UniProt accessions (2): A6NGY1, C9JUX3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the FRG2 family.

RefSeq proteins (2): NP_001118231, NP_001397704 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026245	FRG2	Family

Pfam: PF15315

UniProt features (9 total): compositionally biased region 4, region of interest 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGY1-F1	61.06	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): chr3p12, SUPT16H_TARGET_GENES, MIR3662, MIR616_5P, MIR371B_5P, MIR373_5P, MIR3646, MIR300, MIR381_3P, MIR655_3P, MIR374C_5P, MIR33A_3P, MIR1827, MIR215_3P, MIR506_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRG2C	ZNF354A	O60765	700
FRG2C	USP50	Q70EL3	665
FRG2C	LIN54	Q6MZP7	620
FRG2C	ZNF717	Q9BY31	611
FRG2C	VCF2	Q5XKR9	515
FRG2C	OR2T27	Q8NH04	507
FRG2C	SP6	Q3SY56	475
FRG2C	NUTM2G	Q5VZR2	446
FRG2C	ANKRD36C	Q5JPF3	440
FRG2C	OR2T35	Q8NGX2	393
FRG2C	ROBO1	Q9Y6N7	376
FRG2C	STATH	P02808	375
FRG2C	OR4C3	Q8NH37	371
FRG2C	ZNF594	Q96JF6	370
FRG2C	KRTAP9-2	Q9BYQ4	370

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUA9, A0JNH1, A1L170, A2TJV2, A6H7B4, A6NFA0, A6NGY1, A6X8Z5, A7YY35, B2RQL2, D3Z1D3, M0RD54, P43359, Q05860, Q0VF49, Q1RMX6, Q1RN00, Q2M1Z3, Q32LI3, Q3URK1, Q5EBJ4, Q5M831, Q5RJL0, Q62100, Q640N3, Q64256, Q642A3, Q66H53, Q66LM6, Q68D20, Q68DA7, Q68US1, Q6AXN6, Q6AYA8, Q6IR42, Q711Q0, Q80VY2, Q86UF4, Q8IY42, Q8TDR4

Diamond homologs: A6NGY1, Q64ET8, Q96QU4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	2
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

197 predictions. Top by Δscore:

Variant	Effect	Δscore
3:75664553:GCAAG:G	donor_gain	1.0000
3:75664556:AGGTA:A	donor_loss	1.0000
3:75664557:GGTA:G	donor_loss	1.0000
3:75664558:G:A	donor_loss	1.0000
3:75664559:T:G	donor_loss	1.0000
3:75664817:A:AG	acceptor_gain	1.0000
3:75664818:G:GA	acceptor_gain	1.0000
3:75664818:GCA:G	acceptor_gain	1.0000
3:75665124:A:AG	acceptor_gain	1.0000
3:75665125:G:GG	acceptor_gain	1.0000
3:75665522:TGCA:T	acceptor_loss	1.0000
3:75665523:GCAG:G	acceptor_loss	1.0000
3:75665524:CAGG:C	acceptor_loss	1.0000
3:75665525:A:AG	acceptor_gain	1.0000
3:75665525:A:AT	acceptor_loss	1.0000
3:75665525:AG:A	acceptor_gain	1.0000
3:75665525:AGG:A	acceptor_gain	1.0000
3:75665526:G:GG	acceptor_gain	1.0000
3:75665526:GG:G	acceptor_gain	1.0000
3:75665526:GGG:G	acceptor_gain	1.0000
3:75665526:GGGA:G	acceptor_gain	1.0000
3:75665526:GGGAA:G	acceptor_gain	1.0000
3:75664511:C:T	donor_gain	0.9900
3:75664554:C:T	donor_gain	0.9900
3:75664558:G:GG	donor_gain	0.9900
3:75664817:AGCAG:A	acceptor_gain	0.9900
3:75664818:GCAGG:G	acceptor_gain	0.9900
3:75664893:TCAG:T	donor_loss	0.9900
3:75664893:TCAGG:T	donor_gain	0.9900
3:75664894:CAGG:C	donor_loss	0.9900

AlphaMissense

1829 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:75665877:G:C	A229P	0.931
3:75665898:T:C	F236L	0.913
3:75665900:C:A	F236L	0.913
3:75665900:C:G	F236L	0.913
3:75665913:T:A	W241R	0.901
3:75665913:T:C	W241R	0.901
3:75665878:C:A	A229D	0.894
3:75665748:G:C	A186P	0.893
3:75665742:T:C	S184P	0.872
3:75665886:G:C	A232P	0.867
3:75665868:T:G	Y226D	0.865
3:75665719:T:C	L176S	0.864
3:75665899:T:C	F236S	0.843
3:75665734:G:C	R181P	0.842
3:75665890:C:A	A233D	0.841
3:75665915:G:C	W241C	0.832
3:75665915:G:T	W241C	0.832
3:75665889:G:C	A233P	0.819
3:75665885:G:C	Q231H	0.816
3:75665885:G:T	Q231H	0.816
3:75665731:T:A	V180E	0.813
3:75665754:T:G	Y188D	0.808
3:75665764:T:C	L191P	0.802
3:75665824:T:C	L211P	0.799
3:75665887:C:A	A232E	0.799
3:75665833:T:C	L214P	0.786
3:75665743:C:G	S184W	0.782
3:75665845:T:C	L218P	0.781
3:75665845:T:A	L218Q	0.769
3:75665762:C:A	D190E	0.768

dbSNP variants (sampled 300 via entrez): RS1005335954 (3:75666225 C>A,T), RS1008871653 (3:75667552 G>C), RS1013006939 (3:75666930 G>A), RS1013044613 (3:75667365 G>T), RS1023025380 (3:75666950 T>G), RS1026338698 (3:75667442 T>A,C,G), RS1026727161 (3:75666988 TGGA>T), RS1042767984 (3:75667247 C>T), RS1043080087 (3:75664101 C>A,T), RS1044510111 (3:75667392 A>T), RS10451970 (3:75665080 G>T), RS1057327027 (3:75667291 G>A), RS11128466 (3:75667180 T>A,G), RS11128467 (3:75667186 G>A), RS111530535 (3:75666080 AG>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:189800

GenCC curated gene-disease

Mondo (1): preeclampsia (MONDO:0005081)

Orphanet (1): Preeclampsia (Orphanet:275555)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003158_2	Subjective response to lithium treatment	8.000000e-07

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011225	Pre-Eclampsia	C12.050.703.395.249

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	affects reaction, increases expression	1
propionaldehyde	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
jinfukang	increases expression	1
Cadmium	decreases expression	1
Thiram	increases expression	1
Valproic Acid	decreases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	PHASE4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial