FRG2B

Summary

FRG2B (FSHD region gene 2 family member B, HGNC:33518) is a protein-coding gene on chromosome 10q26.3, encoding Protein FRG2-like-1 (Q96QU4).

Predicted to be located in nucleus.

Source: NCBI Gene 441581 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_001080998

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33518
Approved symbol	FRG2B
Name	FSHD region gene 2 family member B
Location	10q26.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000225899
Ensembl biotype	protein_coding
Entrez	441581

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000425520, ENST00000443774

RefSeq mRNA: 1 — MANE Select: NM_001080998 NM_001080998

CCDS: CCDS44502

Canonical transcript exons

ENST00000425520 — 4 exons

Exon	Start	End
ENSE00001648674	133623895	133625604
ENSE00002433238	133626229	133626303
ENSE00002497666	133626565	133626795
ENSE00002497860	133625922	133625999

Expression profiles

Bgee: expression breadth broad, 19 present calls, max score 45.59.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	45.59	gold quality
cerebellar hemisphere	UBERON:0002245	44.63	silver quality
cerebellar cortex	UBERON:0002129	44.56	silver quality
cerebellum	UBERON:0002037	44.32	silver quality
Brodmann (1909) area 9	UBERON:0013540	40.20	gold quality
sural nerve	UBERON:0015488	39.61	gold quality
endometrium	UBERON:0001295	39.56	silver quality
superior frontal gyrus	UBERON:0002661	38.77	gold quality
bone marrow cell	CL:0002092	38.57	gold quality
stromal cell of endometrium	CL:0002255	38.56	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	37.96	silver quality
right frontal lobe	UBERON:0002810	37.92	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
frontal cortex	UBERON:0001870	35.23	silver quality
skeletal muscle tissue	UBERON:0001134	35.08	gold quality
primary visual cortex	UBERON:0002436	34.82	silver quality
bone marrow	UBERON:0002371	34.03	gold quality
cerebral cortex	UBERON:0000956	33.60	silver quality
muscle tissue	UBERON:0002385	33.42	gold quality
right coronary artery	UBERON:0001625	33.07	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
brain	UBERON:0000955	30.90	silver quality
islet of Langerhans	UBERON:0000006	30.46	gold quality
placenta	UBERON:0001987	30.21	gold quality
anterior cingulate cortex	UBERON:0009835	29.87	silver quality
urinary bladder	UBERON:0001255	29.71	gold quality
left ovary	UBERON:0002119	29.18	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-10018	yes	35.08
E-ANND-3	no	2.31
E-GEOD-124858	no	0.15

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Frg2f1	ENSMUSG00000087385

Paralogs (2): FRG2C (ENSG00000172969), FRG2 (ENSG00000205097)

Protein

Protein identifiers

Protein FRG2-like-1 — Q96QU4 (reviewed: Q96QU4)

Alternative names: FSHD region gene 2 protein family member B, HSA10-FRG2

All UniProt accessions (2): A0A0A0MSZ2, Q96QU4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the FRG2 family.

RefSeq proteins (1): NP_001074467* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026245	FRG2	Family

Pfam: PF15315

UniProt features (8 total): compositionally biased region 5, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96QU4-F1	60.73	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): MARSON_BOUND_BY_FOXP3_STIMULATED, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, GSE14415_INDUCED_VS_NATURAL_TREG_UP, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, GSE3920_IFNA_VS_IFNG_TREATED_ENDOTHELIAL_CELL_UP, chr10q26, GSE27859_MACROPHAGE_VS_CD11C_INT_F480_HI_MACROPHAGE_DN

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

120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRG2B	OR4L1	Q8NH43	573
FRG2B	KRTAP10-1	P60331	523
FRG2B	CCDC89	Q8N998	507
FRG2B	POMZP3	Q6PJE2	474
FRG2B	KRTAP4-3	Q9BYR4	447
FRG2B	ZNF557	Q8N988	433
FRG2B	KIAA1671	Q9BY89	432
FRG2B	FAM171B	Q6P995	430
FRG2B	XKR3	Q5GH77	420
FRG2B	HRCT1	Q6UXD1	419
FRG2B	ZNF595	Q8IYB9	396
FRG2B	PRR16	Q569H4	394
FRG2B	REXO1	Q8N1G1	370
FRG2B	GXYLT1	Q4G148	353
FRG2B	SP6	Q3SY56	351

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1L8I316, A0A286YDK6, A2A8T7, A5WWA0, A6H7B4, A6NFA0, A6NFR6, A6NGY1, A6NKB5, A6QP24, A8MX80, B2RQL2, O93343, P0C6A0, Q0VD86, Q1EHW4, Q1RN00, Q2HR82, Q32LI3, Q32LN6, Q3B8N5, Q49AJ0, Q5BMD4, Q5DU28, Q5NCP0, Q5SSZ7, Q64ET8, Q66H53, Q68DV7, Q68US1, Q6P4J6, Q6PE65, Q6PG16, Q7SYV9, Q80U22, Q80VY2, Q80W69, Q8BII1, Q8K2F3, Q8N2Y8

Diamond homologs: A6NGY1, Q64ET8, Q96QU4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

182 predictions. Top by Δscore:

Variant	Effect	Δscore
10:133626000:C:CC	acceptor_gain	1.0000
10:133626223:TCTTA:T	donor_gain	1.0000
10:133626224:CTTA:C	donor_loss	1.0000
10:133626224:CTTAC:C	donor_gain	1.0000
10:133626225:TTA:T	donor_loss	1.0000
10:133626225:TTACC:T	donor_gain	1.0000
10:133626226:TA:T	donor_loss	1.0000
10:133626226:TAC:T	donor_gain	1.0000
10:133626227:A:C	donor_loss	1.0000
10:133626227:ACCTG:A	donor_gain	1.0000
10:133626304:CTG:C	acceptor_gain	1.0000
10:133626307:C:CC	acceptor_gain	1.0000
10:133626560:CTTA:C	donor_loss	1.0000
10:133626563:A:AG	donor_loss	1.0000
10:133626564:C:CT	donor_loss	1.0000
10:133626564:CCTTG:C	donor_gain	1.0000
10:133625600:GTTCC:G	acceptor_gain	0.9900
10:133625601:TTCC:T	acceptor_gain	0.9900
10:133625602:TCC:T	acceptor_gain	0.9900
10:133625603:CC:C	acceptor_gain	0.9900
10:133625603:CCC:C	acceptor_gain	0.9900
10:133625603:CCCTG:C	acceptor_loss	0.9900
10:133625604:CC:C	acceptor_gain	0.9900
10:133625604:CCTGC:C	acceptor_loss	0.9900
10:133625605:C:CC	acceptor_gain	0.9900
10:133625605:CT:C	acceptor_loss	0.9900
10:133625606:T:A	acceptor_loss	0.9900
10:133625916:TTCTA:T	donor_loss	0.9900
10:133625917:TCTAC:T	donor_loss	0.9900
10:133625918:CTA:C	donor_loss	0.9900

AlphaMissense

1804 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:133625254:C:G	A228P	0.936
10:133625383:C:G	A185P	0.913
10:133625231:G:C	F235L	0.910
10:133625231:G:T	F235L	0.910
10:133625233:A:G	F235L	0.910
10:133625218:A:G	W240R	0.898
10:133625218:A:T	W240R	0.898
10:133625253:G:T	A228D	0.898
10:133625389:A:G	S183P	0.873
10:133625263:A:C	Y225D	0.867
10:133625245:C:G	A231P	0.859
10:133625241:G:T	A232D	0.842
10:133625412:A:G	L175S	0.842
10:133625232:A:G	F235S	0.839
10:133625397:C:G	R180P	0.837
10:133625216:C:A	W240C	0.836
10:133625216:C:G	W240C	0.836
10:133625242:C:G	A232P	0.816
10:133625246:C:A	Q230H	0.811
10:133625246:C:G	Q230H	0.811
10:133625377:A:C	Y187D	0.811
10:133625307:A:G	L210P	0.799
10:133625400:A:T	V179E	0.799
10:133625369:G:C	D189E	0.789
10:133625369:G:T	D189E	0.789
10:133625244:G:T	A231E	0.788
10:133625367:A:G	L190P	0.787
10:133625371:C:G	D189H	0.775
10:133625226:G:T	A237D	0.765
10:133625379:A:T	V186D	0.764

dbSNP variants (sampled 300 via entrez): RS1002172602 (10:133627580 C>G), RS1003124946 (10:133625661 C>G), RS1003178684 (10:133625149 C>T), RS1004282738 (10:133628033 A>G), RS1005646055 (10:133626451 A>C), RS1009084333 (10:133627240 T>C,G), RS1010907299 (10:133627263 A>G), RS1011605647 (10:133627563 T>C), RS1012195514 (10:133625021 A>C), RS1012324075 (10:133624034 G>A,T), RS1022275307 (10:133627566 A>T), RS1023335495 (10:133624069 G>A), RS1023703515 (10:133625095 G>A,T), RS1025315873 (10:133625163 G>A,T), RS1025368409 (10:133624320 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

0 associations (top):

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
propionaldehyde	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
abrine	increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Thiram	increases expression	1
Urethane	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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