FBRS

Summary

FBRS (fibrosin, HGNC:20442) is a protein-coding gene on chromosome 16p11.2, encoding Probable fibrosin-1 (Q9HAH7).

Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).

Source: NCBI Gene 64319 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 106 total — 2 likely-pathogenic
• MANE Select transcript: NM_001105079

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20442
Approved symbol	FBRS
Name	fibrosin
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FBS, FLJ11618
Ensembl gene	ENSG00000156860
Ensembl biotype	protein_coding
OMIM	608601
Entrez	64319

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 retained_intron, 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000287468, ENST00000356166, ENST00000468966, ENST00000482749, ENST00000484152, ENST00000494101, ENST00000498588, ENST00000543786, ENST00000570170

RefSeq mRNA: 1 — MANE Select: NM_001105079 NM_001105079

CCDS: CCDS45462

Canonical transcript exons

ENST00000356166 — 18 exons

Exon	Start	End
ENSE00001405716	30669069	30670810
ENSE00001406383	30658431	30659977
ENSE00001520527	30661304	30661333
ENSE00001520528	30661180	30661215
ENSE00003465413	30662559	30662859
ENSE00003472998	30660263	30660442
ENSE00003474835	30665638	30665706
ENSE00003511255	30665035	30665079
ENSE00003524486	30664215	30664516
ENSE00003529902	30666512	30666541
ENSE00003542921	30662420	30662468
ENSE00003555592	30668560	30668643
ENSE00003575763	30668772	30668979
ENSE00003600194	30664715	30664920
ENSE00003649040	30666919	30666990
ENSE00003654757	30665306	30665401
ENSE00003665199	30667542	30667622
ENSE00003687719	30667320	30667437

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 98.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.2626 / max 957.1526, expressed in 1805 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153679	5.3367	1621
153680	5.0710	1290
153693	2.4506	1112
153691	1.3885	591
153701	1.3073	697
153692	0.2329	87
153699	0.2266	78
153700	0.1379	37
153678	0.0767	19
153677	0.0280	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.64	gold quality
right testis	UBERON:0004534	98.62	gold quality
lower esophagus mucosa	UBERON:0035834	97.97	gold quality
right uterine tube	UBERON:0001302	97.84	gold quality
adenohypophysis	UBERON:0002196	97.35	gold quality
granulocyte	CL:0000094	96.90	gold quality
pituitary gland	UBERON:0000007	96.39	gold quality
right lobe of thyroid gland	UBERON:0001119	96.17	gold quality
skin of leg	UBERON:0001511	95.98	gold quality
cerebellar vermis	UBERON:0004720	95.96	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.94	gold quality
left lobe of thyroid gland	UBERON:0001120	95.93	gold quality
esophagus mucosa	UBERON:0002469	95.74	gold quality
mucosa of stomach	UBERON:0001199	95.72	gold quality
skin of abdomen	UBERON:0001416	95.71	gold quality
metanephros cortex	UBERON:0010533	95.70	gold quality
body of uterus	UBERON:0009853	95.65	gold quality
left ovary	UBERON:0002119	95.61	gold quality
testis	UBERON:0000473	95.54	gold quality
right ovary	UBERON:0002118	95.54	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.54	gold quality
esophagus	UBERON:0001043	95.48	gold quality
spleen	UBERON:0002106	95.44	gold quality
lower esophagus	UBERON:0013473	95.38	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.37	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.37	gold quality
transverse colon	UBERON:0001157	95.34	gold quality
endocervix	UBERON:0000458	95.30	gold quality
left uterine tube	UBERON:0001303	95.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.09

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• In a rat model, ethanol can directly stimulate fibroblast proliferation and production of fibrogenic cytokines, particularly fibrosin, which appears to contribute to alcohol-induced hepatic fibrosis in vivo. (PMID:10493891)
• Fibrosin stimulates epithelialization of wounds in mouse and reduces wound healing time by approximately 30-40%. (PMID:11733950)
• In a mouse model, fibrosin upregulates the appearance of myofibroblasts during wound healing and may be important in the process of scarring. (PMID:17083929)
• Characterization of mouse fibrosin and demonstration of growth-stimulating effects in fibroblasts. (PMID:7892239)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fbrs	ENSDARG00000074688
mus_musculus	Fbrs	ENSMUSG00000042423
rattus_norvegicus	Fbrs	ENSRNOG00000042728

Paralogs (2): FBRSL1 (ENSG00000112787), AUTS2 (ENSG00000158321)

Protein

Protein identifiers

Probable fibrosin-1 — Q9HAH7 (reviewed: Q9HAH7)

All UniProt accessions (3): Q9HAH7, H3BRE6, J3KNZ9

UniProt curated annotations — full annotation on UniProt →

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HAH7-2	2	yes
Q9HAH7-1	1

RefSeq proteins (1): NP_001098549* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR023246	AUTS2	Family

Pfam: PF15336

UniProt features (16 total): compositionally biased region 4, region of interest 3, modified residue 3, sequence conflict 3, chain 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAH7-F1	52.63	0.03

Functional residue map

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

Post-translational modifications (4): 281, 8, 229, 239

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 173 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AP1_01, SP3_Q3, GGGTGGRR_PAX4_03, SREBP1_02, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, CTCTAGA_MIR526C_MIR518F_MIR526A, CAGCAGG_MIR370, AP1_Q4_01, GATA6_01, chr16p11, TGANTCA_AP1_C, LYF1_01, RYTTCCTG_ETS2_B, IK2_01

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBRS	RNF2	Q99496	746
FBRS	RING1	Q06587	722
FBRS	PCGF3	Q3KNV8	682
FBRS	PCGF5	Q86SE9	679
FBRS	PCGF6	Q9BYE7	587
FBRS	H7C2H4	H7C2H4	573
FBRS	P0DN79	P0DN79	573
FBRS	PCGF2	P35227	513
FBRS	R4GMX3	R4GMX3	513
FBRS	BMI1	P35226	512
FBRS	WDR5	P61964	510
FBRS	PCGF1	Q9BSM1	509
FBRS	AUTS2	Q8WXX7	450
FBRS	RYBP	Q8N488	434
FBRS	YAF2	Q8IY57	433

IntAct

95 interactions, top by confidence:

A	B	Type	Score
CBX8	BMI1	psi-mi:“MI:0914”(association)	0.970
RYBP	CSNK2A2	psi-mi:“MI:0914”(association)	0.900
PCGF5	CSNK2A2	psi-mi:“MI:0914”(association)	0.880
RYBP	BMI1	psi-mi:“MI:0914”(association)	0.850
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
MED23	MED19	psi-mi:“MI:2364”(proximity)	0.770
RYBP	E2F6	psi-mi:“MI:0914”(association)	0.740
RING1	CBX4	psi-mi:“MI:0914”(association)	0.730
RNF2	E2F6	psi-mi:“MI:0914”(association)	0.730
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.730
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
RNF2	CBX4	psi-mi:“MI:0914”(association)	0.660
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
PCGF6	CBX4	psi-mi:“MI:0914”(association)	0.640
PRPF31	PRPF4	psi-mi:“MI:0914”(association)	0.640
YAF2	E2F6	psi-mi:“MI:0914”(association)	0.640
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
SNX9	WASL	psi-mi:“MI:0914”(association)	0.640
CSNK2A1	SURF6	psi-mi:“MI:0914”(association)	0.590

BioGRID (171): FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Proximity Label-MS), FBRS (Affinity Capture-MS), FBRS (Proximity Label-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS), FBRS (Affinity Capture-MS)

ESM2 similar proteins: A6PWV5, O02754, O15417, O35126, O35160, O75364, P49715, P54258, P54259, P55198, P78411, P81062, P81066, Q05502, Q13207, Q14687, Q15744, Q1LWL6, Q1RNF8, Q24423, Q2VL77, Q2VL82, Q2VL83, Q2VL85, Q2VL86, Q3SA48, Q3U3C9, Q3UHR0, Q5IS70, Q60707, Q67FY2, Q6PCL0, Q7TQH0, Q80WC3, Q863A2, Q86UU0, Q8K4J6, Q8NFW5, Q8R089, Q8WWM7

Diamond homologs: A0A087WPF7, Q8R089, Q8WXX7, Q9HAH7, Q9HCM7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 104 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	14	61.9×	4e-20
SUMOylation of DNA methylation proteins	5	49.4×	2e-06
Transcriptional Regulation by E2F6	7	30.1×	4e-07
Deactivation of the beta-catenin transactivating complex	7	24.0×	1e-06
SUMOylation of transcription cofactors	6	21.4×	2e-05
SUMOylation of RNA binding proteins	5	17.5×	3e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	8	17.2×	1e-06
Regulation of PTEN gene transcription	6	15.7×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	5	21.6×	3e-04
chromatin remodeling	10	7.8×	9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	92
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
599483	NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)	Likely pathogenic
599484	NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)	Likely pathogenic

SpliceAI

1104 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30665033:A:AG	acceptor_gain	1.0000
16:30665034:G:GG	acceptor_gain	1.0000
16:30665034:GTTT:G	acceptor_gain	1.0000
16:30665080:G:GG	donor_gain	1.0000
16:30665304:A:AG	acceptor_gain	1.0000
16:30665305:G:GG	acceptor_gain	1.0000
16:30665305:GCC:G	acceptor_gain	1.0000
16:30666896:T:TA	acceptor_gain	1.0000
16:30666897:G:A	acceptor_gain	1.0000
16:30666902:T:G	acceptor_gain	1.0000
16:30666908:T:TA	acceptor_gain	1.0000
16:30666909:G:A	acceptor_gain	1.0000
16:30666917:A:AG	acceptor_gain	1.0000
16:30666918:G:GG	acceptor_gain	1.0000
16:30667306:T:TA	acceptor_gain	1.0000
16:30667308:T:TA	acceptor_gain	1.0000
16:30667314:A:AG	acceptor_gain	1.0000
16:30667315:C:G	acceptor_gain	1.0000
16:30667316:A:AG	acceptor_gain	1.0000
16:30667316:ACAG:A	acceptor_gain	1.0000
16:30667316:ACAGG:A	acceptor_gain	1.0000
16:30667317:C:G	acceptor_gain	1.0000
16:30667318:A:AG	acceptor_gain	1.0000
16:30667318:AG:A	acceptor_gain	1.0000
16:30667318:AGG:A	acceptor_gain	1.0000
16:30667318:AGGGT:A	acceptor_gain	1.0000
16:30667319:G:A	acceptor_gain	1.0000
16:30667319:G:GA	acceptor_gain	1.0000
16:30667319:GGG:G	acceptor_gain	1.0000
16:30667319:GGGT:G	acceptor_gain	1.0000

AlphaMissense

6171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:30666931:T:A	W86R	1.000
16:30666931:T:C	W86R	1.000
16:30666933:G:C	W86C	1.000
16:30666933:G:T	W86C	1.000
16:30665390:T:C	F45L	0.999
16:30665391:T:C	F45S	0.999
16:30665391:T:G	F45C	0.999
16:30665392:C:A	F45L	0.999
16:30665392:C:G	F45L	0.999
16:30666936:T:G	C87W	0.999
16:30666943:C:G	H90D	0.999
16:30666956:C:A	A94D	0.999
16:30666932:G:C	W86S	0.998
16:30666934:T:C	C87R	0.998
16:30666935:G:A	C87Y	0.998
16:30666943:C:A	H90N	0.998
16:30666944:A:G	H90R	0.998
16:30666945:C:A	H90Q	0.998
16:30666945:C:G	H90Q	0.998
16:30666968:T:C	L98P	0.998
16:30668616:T:C	F191L	0.998
16:30668618:T:A	F191L	0.998
16:30668618:T:G	F191L	0.998
16:30666934:T:A	C87S	0.997
16:30666935:G:C	C87S	0.997
16:30666935:G:T	C87F	0.997
16:30666943:C:T	H90Y	0.997
16:30666955:G:C	A94P	0.997
16:30666965:T:A	I97N	0.997
16:30666965:T:G	I97S	0.997

dbSNP variants (sampled 300 via entrez): RS1000024822 (16:30661844 A>G), RS1000037008 (16:30667556 G>A,T), RS1000119615 (16:30657698 A>G,T), RS1000269889 (16:30657300 T>C), RS1000278530 (16:30657893 T>C,G), RS1000384912 (16:30657435 G>A,T), RS1000549564 (16:30661982 G>A), RS1000648751 (16:30665996 C>T), RS1000762037 (16:30660930 T>C,G), RS1000924805 (16:30665912 G>A), RS1001039069 (16:30666155 A>T), RS1001146248 (16:30660937 A>C), RS1001340853 (16:30657969 G>A), RS1001445679 (16:30658278 T>C,G), RS1001464973 (16:30670777 G>A)

Disease associations

OMIM: gene MIM:608601 | disease phenotypes: MIM:614923

GenCC curated gene-disease

Mondo (1): branched-chain keto acid dehydrogenase kinase deficiency (MONDO:0013970)

Orphanet (1): Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet:308410)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004028_8	Immunoglobulin light chain (AL) amyloidosis	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
Air Pollutants	affects expression, increases abundance, increases expression	2
Cadmium	decreases expression, increases abundance, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
perfluorohexanesulfonic acid	decreases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic	decreases expression, increases abundance, increases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Dronabinol	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening