FGFBP2

Summary

FGFBP2 (fibroblast growth factor binding protein 2, HGNC:29451) is a protein-coding gene on chromosome 4p15.32, encoding Fibroblast growth factor-binding protein 2 (Q9BYJ0).

This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.

Source: NCBI Gene 83888 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_031950

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29451
Approved symbol	FGFBP2
Name	fibroblast growth factor binding protein 2
Location	4p15.32
Locus type	gene with protein product
Status	Approved
Aliases	KSP37
Ensembl gene	ENSG00000137441
Ensembl biotype	protein_coding
OMIM	607713
Entrez	83888

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000259989, ENST00000509331, ENST00000899354

RefSeq mRNA: 1 — MANE Select: NM_031950 NM_031950

CCDS: CCDS3419

Canonical transcript exons

ENST00000259989 — 2 exons

Exon	Start	End
ENSE00000927358	15962438	15963175
ENSE00001491719	15960245	15960611

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 99.84.

FANTOM5 (CAGE): breadth broad, TPM avg 44.7915 / max 2135.3871, expressed in 311 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51472	25.9525	238
51474	15.0621	231
51473	3.7769	130

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	99.84	gold quality
granulocyte	CL:0000094	99.45	gold quality
synovial joint	UBERON:0002217	97.37	gold quality
tibial nerve	UBERON:0001323	96.60	gold quality
cartilage tissue	UBERON:0002418	94.91	gold quality
layer of synovial tissue	UBERON:0007616	94.76	gold quality
blood	UBERON:0000178	91.44	gold quality
apex of heart	UBERON:0002098	91.42	gold quality
tendon of biceps brachii	UBERON:0008188	90.35	gold quality
upper arm skin	UBERON:0004263	87.78	gold quality
sural nerve	UBERON:0015488	86.74	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.20	gold quality
right atrium auricular region	UBERON:0006631	85.70	gold quality
trigeminal ganglion	UBERON:0001675	85.29	gold quality
cardiac atrium	UBERON:0002081	84.75	gold quality
skin of leg	UBERON:0001511	84.56	gold quality
dorsal root ganglion	UBERON:0000044	84.46	gold quality
zone of skin	UBERON:0000014	82.97	gold quality
skin of abdomen	UBERON:0001416	82.44	gold quality
buccal mucosa cell	CL:0002336	81.91	silver quality
subcutaneous adipose tissue	UBERON:0002190	81.79	gold quality
trabecular bone tissue	UBERON:0002483	80.82	gold quality
upper leg skin	UBERON:0004262	80.57	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.26	gold quality
adipose tissue	UBERON:0001013	77.84	gold quality
trachea	UBERON:0003126	77.83	gold quality
tendon	UBERON:0000043	77.75	gold quality
bone element	UBERON:0001474	77.55	gold quality
spleen	UBERON:0002106	76.70	gold quality
calcaneal tendon	UBERON:0003701	76.53	gold quality

Single-cell (SCXA)

Detected in 22 experiment(s), a significant marker in 20.

Experiment	Marker?	Max mean expression
E-MTAB-6653	yes	2281.16
E-CURD-55	yes	2217.20
E-GEOD-149689	yes	2201.78
E-GEOD-139324	yes	1936.23
E-MTAB-9467	yes	1905.84
E-MTAB-8207	yes	1734.16
E-MTAB-8911	yes	1675.43
E-MTAB-10553	yes	1605.02
E-GEOD-150728	yes	1496.31
E-MTAB-6678	yes	1249.32
E-HCAD-32	yes	1212.24
E-HCAD-36	yes	1203.25
E-HCAD-9	yes	1146.24
E-MTAB-10287	yes	718.62
E-HCAD-4	yes	174.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting FGFBP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-1288-5P	98.85	67.01	734
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-6773-5P	97.04	64.30	595
HSA-MIR-454-5P	96.51	68.35	263
HSA-MIR-6724-5P	96.41	63.11	507
HSA-MIR-642B-5P	96.37	67.26	745
HSA-MIR-668-3P	96.18	65.80	673

Literature-anchored findings (GeneRIF, showing 4)

• Secreted from NK cells in decidua, elevated at late gestational period. (PMID:12322897)
• Results suggest that POLD2 and KSP37 might be potential prognostic biomarkers. (PMID:21079801)
• results of this study suggest that the expression of Ksp37 gene might be associated with increased susceptibility of individuals with Down syndrome to EBV infections and autoimmune problems. (PMID:27032399)
• three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could potentially have a role in acute myocardial infarction and have diagnostic potential (PMID:30683112)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	fgfbp2b	ENSDARG00000038056
danio_rerio	fgfbp2a	ENSDARG00000039964

Paralogs (2): FGFBP1 (ENSG00000137440), FGFBP3 (ENSG00000174721)

Protein

Protein identifiers

Fibroblast growth factor-binding protein 2 — Q9BYJ0 (reviewed: Q9BYJ0)

Alternative names: 37 kDa killer-specific secretory protein, HBp17-related protein

All UniProt accessions (1): Q9BYJ0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted. Extracellular space.

Tissue specificity. Expressed in serum, peripheral leukocytes and cytotoxic T-lymphocytes, but not in granulocytes and monocytes (at protein level).

Similarity. Belongs to the fibroblast growth factor-binding protein family.

RefSeq proteins (1): NP_114156* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010510	FGF1-bd	Family

Pfam: PF06473

UniProt features (13 total): disulfide bond 4, sequence variant 3, region of interest 2, compositionally biased region 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYJ0-F1	72.98	0.43

Functional residue map

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

Disulfide bonds (4): 43–63, 72–106, 81–117, 206–214

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-190377	FGFR2b ligand binding and activation

MSigDB gene sets: 59 (showing top): REACTOME_SIGNALING_BY_FGFR, GOBP_CELL_CELL_SIGNALING, MODULE_206, MODULE_544, chr4p15, NFAT_Q6, MODULE_481, REACTOME_FGFR2_LIGAND_BINDING_AND_ACTIVATION, REACTOME_FGFR2B_LIGAND_BINDING_AND_ACTIVATION, REACTOME_SIGNALING_BY_FGFR2, REACTOME_SIGNALING_BY_RECEPTOR_TYROSINE_KINASES, GSE11864_UNTREATED_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP, GSE11864_CSF1_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP, MIR508_5P, MIR1288_5P

GO Biological Process (1): cell-cell signaling (GO:0007267)

GO Molecular Function (2): growth factor binding (GO:0019838), protein binding (GO:0005515)

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

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
FGFR2 ligand binding and activation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
signaling	1
protein binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

506 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGFBP2	GZMH	P20718	607
FGFBP2	GNLY	P09325	591
FGFBP2	NKG7	Q16617	583
FGFBP2	GZMK	P49863	578
FGFBP2	ZNF683	Q8IZ20	447
FGFBP2	GZMA	P12544	446
FGFBP2	KLRF1	Q9NZS2	428
FGFBP2	GZMB	P10144	419
FGFBP2	CX3CR1	P49238	395
FGFBP2	FCRL6	Q6DN72	392
FGFBP2	SPON2	Q9BUD6	390
FGFBP2	CD3D	P04234	374
FGFBP2	XCL2	Q9UBD3	374
FGFBP2	LAYN	Q6UX15	373
FGFBP2	KLRB1	Q12918	372

IntAct

8 interactions, top by confidence:

A	B	Type	Score
TMBIM6	FGFBP2	psi-mi:“MI:0915”(physical association)	0.560
FGFBP2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
FGFBP2	FKBP7	psi-mi:“MI:0915”(physical association)	0.400
ACOT11	THUMPD3	psi-mi:“MI:0914”(association)	0.350
FGFBP2	RAB4A	psi-mi:“MI:0914”(association)	0.350
TMBIM6	FGFBP2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): TMBIM6 (Two-hybrid), FGFBP2 (Proximity Label-MS), FKBP7 (Affinity Capture-MS), FGFBP2 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0JNH6, A1A5D9, A6NC98, A6NGB0, A6NJZ7, A6NNM3, F6XLV1, O15049, O54887, P0C7N4, P58660, P60531, Q0D2H9, Q0P5D1, Q2KJ21, Q2TAC2, Q3LUD3, Q3T1I3, Q3TMW1, Q3V0F0, Q4QRL3, Q5JTB6, Q5RD60, Q66HR5, Q6NSJ2, Q6PHN1, Q6QZQ4, Q80VM7, Q8BP01, Q8C7U1, Q8CB62, Q8CGU1, Q8CHW5, Q8K2I2, Q8N137, Q8N283, Q8N6Y0, Q8R370

Diamond homologs: Q802A9, Q9BYJ0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

106 predictions. Top by Δscore:

Variant	Effect	Δscore
4:15960607:CAGAT:C	acceptor_gain	0.9800
4:15960611:TCT:T	acceptor_loss	0.9800
4:15960612:C:CA	acceptor_loss	0.9800
4:15960613:T:A	acceptor_loss	0.9800
4:15962434:TTA:T	donor_loss	0.9800
4:15962435:TA:T	donor_loss	0.9800
4:15962436:AC:A	donor_loss	0.9800
4:15960608:AGAT:A	acceptor_gain	0.9700
4:15960612:C:CC	acceptor_gain	0.9700
4:15962454:CCTG:C	donor_gain	0.9700
4:15960609:GAT:G	acceptor_gain	0.9600
4:15962456:TGTC:T	donor_gain	0.9500
4:15962540:T:TA	donor_gain	0.9100
4:15960610:AT:A	acceptor_gain	0.9000
4:15960568:C:CT	acceptor_gain	0.8900
4:15960569:A:C	acceptor_gain	0.8900
4:15960574:A:C	acceptor_gain	0.8900
4:15960558:T:TC	acceptor_gain	0.8500
4:15960566:G:T	acceptor_gain	0.8400
4:15962450:TTC:T	donor_gain	0.8100
4:15960572:A:AC	acceptor_gain	0.8000
4:15960572:A:C	acceptor_gain	0.7900
4:15962448:CTT:C	donor_gain	0.7900
4:15962449:TTT:T	donor_gain	0.7900
4:15962451:TC:T	donor_gain	0.7700
4:15962436:ACCT:A	donor_gain	0.7600
4:15960609:GATCT:G	acceptor_gain	0.7400
4:15960610:ATCT:A	acceptor_gain	0.7400
4:15962434:TTACC:T	donor_gain	0.7400
4:15962435:TACCT:T	donor_gain	0.7400

AlphaMissense

1450 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:15962909:T:C	Y74C	0.993
4:15962854:C:A	W92C	0.992
4:15962854:C:G	W92C	0.992
4:15962878:G:C	F84L	0.987
4:15962878:G:T	F84L	0.987
4:15962880:A:G	F84L	0.987
4:15963026:A:C	F35C	0.987
4:15962915:C:G	C72S	0.986
4:15962916:A:T	C72S	0.986
4:15962780:C:G	C117S	0.984
4:15962781:A:T	C117S	0.984
4:15962909:T:G	Y74S	0.982
4:15962888:C:G	C81S	0.980
4:15962889:A:T	C81S	0.980
4:15962879:A:C	F84C	0.977
4:15962910:A:C	Y74D	0.977
4:15962941:G:C	C63W	0.977
4:15962813:C:G	C106S	0.976
4:15962814:A:T	C106S	0.976
4:15962915:C:T	C72Y	0.976
4:15962889:A:G	C81R	0.974
4:15962942:C:G	C63S	0.974
4:15962943:A:T	C63S	0.974
4:15962859:A:C	Y91D	0.973
4:15962910:A:G	Y74H	0.971
4:15963025:G:C	F35L	0.970
4:15963025:G:T	F35L	0.970
4:15963027:A:G	F35L	0.970
4:15962915:C:A	C72F	0.969
4:15962914:A:C	C72W	0.968

dbSNP variants (sampled 300 via entrez): RS1000592455 (4:15961938 C>G,T), RS1001061171 (4:15961588 T>G), RS1001513821 (4:15959854 T>A,G), RS1001866543 (4:15961037 C>T), RS1002108397 (4:15961029 T>C), RS1003517017 (4:15962177 T>C), RS1003636891 (4:15964939 C>T), RS1004118157 (4:15963359 G>T), RS1004287722 (4:15960950 C>A), RS1004748430 (4:15964097 T>C), RS1005139566 (4:15964647 G>A,T), RS1005211445 (4:15963271 T>C,G), RS1005282784 (4:15964489 G>T), RS1006932114 (4:15961735 A>G), RS1007972525 (4:15962118 G>T)

Disease associations

OMIM: gene MIM:607713 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001922_6	QT interval	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2286461	FGFBP2		0.00	0

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
Nickel	decreases expression	2
bisphenol A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	decreases expression	1
Cadmium	increases abundance, increases expression	1
Clozapine	increases expression	1
Estradiol	affects binding, increases expression	1
Lipopolysaccharides	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

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