FIBP

Summary

FIBP (FGF1 intracellular binding protein, HGNC:3705) is a protein-coding gene on chromosome 11q13.1, encoding Acidic fibroblast growth factor intracellular-binding protein (O43427). May be involved in mitogenic function of FGF1.

Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9158 — RefSeq curated summary.

At a glance

• Gene–disease (curated): tall stature-intellectual disability-renal anomalies syndrome (Strong, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 109 total — 1 pathogenic, 4 likely-pathogenic
• GTEx eGene: eQTL in 38 tissues, sQTL in 16 (q < 0.05)
• Phenotypes (HPO): 58
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.01 (unconstrained)
• MANE Select transcript: NM_004214

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3705
Approved symbol	FIBP
Name	FGF1 intracellular binding protein
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	FGFIBP
Ensembl gene	ENSG00000172500
Ensembl biotype	protein_coding
OMIM	608296
Entrez	9158

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 20 nonsense_mediated_decay, 12 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000357519

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 5, TSL 3: 2, TSL 5: 3

ENST00000357519, ENST00000338369, ENST00000426652, ENST00000442885, ENST00000525765, ENST00000528937, ENST00000531115, ENST00000532229, ENST00000532679, ENST00000532934, ENST00000533037, ENST00000533045, ENST00000534032, ENST00000873727, ENST00000926949, ENST00000926950, ENST00000926951, ENST00000967693, ENST00000967694, ENST00000992941, ENST00000992942, ENST00000992943, ENST00000992944, ENST00001055384, ENST00001055385, ENST00001055386, ENST00001055387, ENST00001055390, ENST00001055391, ENST00001055392, ENST00001055394, ENST00001083742, ENST00001083743, ENST00001083745, ENST00001083746, ENST00001083748, ENST00001083749, ENST00001083750, ENST00001139418

RefSeq mRNA: 2 — MANE Select: NM_004214 NM_004214, NM_198897

CCDS: CCDS8118, CCDS8119

Canonical transcript exons

ENST00000357519 — 10 exons

Exon	Start	End
ENSE00000000132	65883740	65884043
ENSE00001380550	65888334	65888471
ENSE00003491324	65884935	65884998
ENSE00003520177	65885530	65885663
ENSE00003543689	65887934	65888132
ENSE00003545875	65885078	65885186
ENSE00003570357	65886322	65886422
ENSE00003618983	65884570	65884656
ENSE00003662533	65887600	65887726
ENSE00003690488	65884392	65884489

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.8476 / max 222.6898, expressed in 1822 samples.

Highest expression (Bgee): stromal cell of endometrium, frontal lobe, prefrontal cortex, hemisphere of cerebellum, apex of heart.

Genetic regulation across tissues (GTEx eQTL / sQTL)

FIBP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 38 tissues and its splicing (sQTL) in 16 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 54 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	9.1e-48	-0.30	11:65876556:T:C
Muscle Skeletal	eqtl	1.0e-47	-0.40	11:65876556:T:C
Cells EBV-transformed lymphocytes	eqtl	2.4e-39	+0.40	11:65885771:C:T
Testis	eqtl	3.6e-28	-0.38	11:65882513:T:C
Heart Left Ventricle	eqtl	4.0e-21	-0.32	11:65882513:T:C
Heart Atrial Appendage	eqtl	2.7e-18	-0.29	11:65877883:A:G
Esophagus Muscularis	eqtl	1.9e-15	-0.23	11:65876556:T:C
Adipose Subcutaneous	eqtl	2.3e-14	-0.18	11:65878360:G:C
Brain Cortex	eqtl	3.9e-13	-0.27	11:65876556:T:C
Brain Frontal Cortex BA9	eqtl	2.4e-12	+0.27	11:65896076:A:G
Cells Cultured fibroblasts	sqtl	9.0e-12	+0.45	11:65887788:G:GCC
Muscle Skeletal	sqtl	1.1e-11	-0.45	11:65894185:T:C
Nerve Tibial	eqtl	2.7e-11	+0.19	11:65895514:A:G
Brain Putamen basal ganglia	eqtl	1.3e-10	+0.41	11:65896076:A:G
Brain Nucleus accumbens basal ganglia	eqtl	4.8e-10	+0.32	11:65885771:C:T
Artery Aorta	eqtl	1.1e-08	-0.15	11:65857720:G:A
Breast Mammary Tissue	eqtl	4.7e-08	+0.17	11:65856268:A:G
Lung	eqtl	4.8e-08	-0.13	11:65876556:T:C
Skin Sun Exposed Lower leg	eqtl	5.1e-08	+0.12	11:65893820:C:T
Brain Anterior cingulate cortex BA24	eqtl	1.5e-07	-0.27	11:65878360:G:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
120722	56.8476	1822

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	98.05	gold quality
right frontal lobe	UBERON:0002810	97.38	gold quality
prefrontal cortex	UBERON:0000451	97.21	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.12	gold quality
apex of heart	UBERON:0002098	96.97	gold quality
cerebellar hemisphere	UBERON:0002245	96.95	gold quality
cerebellar cortex	UBERON:0002129	96.90	gold quality
ganglionic eminence	UBERON:0004023	96.89	gold quality
cortical plate	UBERON:0005343	96.80	gold quality
left testis	UBERON:0004533	96.72	gold quality
right testis	UBERON:0004534	96.62	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.38	gold quality
cingulate cortex	UBERON:0003027	96.31	gold quality
embryo	UBERON:0000922	96.28	gold quality
anterior cingulate cortex	UBERON:0009835	96.24	gold quality
cerebellum	UBERON:0002037	96.10	gold quality
amygdala	UBERON:0001876	96.01	gold quality
frontal cortex	UBERON:0001870	95.95	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.93	gold quality
neocortex	UBERON:0001950	95.86	gold quality
granulocyte	CL:0000094	95.84	gold quality
ventricular zone	UBERON:0003053	95.72	gold quality
right adrenal gland	UBERON:0001233	95.66	gold quality
right adrenal gland cortex	UBERON:0035827	95.60	gold quality
pons	UBERON:0000988	95.42	gold quality
endometrium epithelium	UBERON:0004811	95.35	gold quality
hypothalamus	UBERON:0001898	95.28	gold quality
mucosa of transverse colon	UBERON:0004991	95.26	gold quality
left adrenal gland	UBERON:0001234	95.24	gold quality
testis	UBERON:0000473	95.23	gold quality
cerebral cortex	UBERON:0000956	95.17	gold quality
decidua	UBERON:0002450	95.13	gold quality
adenohypophysis	UBERON:0002196	95.11	gold quality
left adrenal gland cortex	UBERON:0035825	95.11	gold quality
putamen	UBERON:0001874	94.97	gold quality
caudate nucleus	UBERON:0001873	94.96	gold quality
nucleus accumbens	UBERON:0001882	94.88	gold quality
telencephalon	UBERON:0001893	94.85	gold quality
ascending aorta	UBERON:0001496	94.82	gold quality
thoracic aorta	UBERON:0001515	94.82	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.78	gold quality
heart left ventricle	UBERON:0002084	94.76	gold quality
right lobe of thyroid gland	UBERON:0001119	94.74	gold quality
forebrain	UBERON:0001890	94.74	gold quality
brain	UBERON:0000955	94.73	gold quality
central nervous system	UBERON:0001017	94.71	gold quality
metanephros cortex	UBERON:0010533	94.67	gold quality
sperm	CL:0000019	94.58	gold quality
descending thoracic aorta	UBERON:0002345	94.58	gold quality
cardiac ventricle	UBERON:0002082	94.56	gold quality
skin of leg	UBERON:0001511	94.53	gold quality
adrenal cortex	UBERON:0001235	94.52	gold quality
left coronary artery	UBERON:0001626	94.48	gold quality
right atrium auricular region	UBERON:0006631	94.46	gold quality
adrenal gland	UBERON:0002369	94.44	gold quality
spleen	UBERON:0002106	94.41	gold quality
right uterine tube	UBERON:0001302	94.40	gold quality
male germ cell	CL:0000015	94.38	gold quality
left lobe of thyroid gland	UBERON:0001120	94.18	gold quality
coronary artery	UBERON:0001621	94.16	gold quality
temporal lobe	UBERON:0001871	94.15	gold quality
body of stomach	UBERON:0001161	94.12	gold quality
orbitofrontal cortex	UBERON:0004167	94.11	gold quality
right coronary artery	UBERON:0001625	94.06	gold quality
Ammon’s horn	UBERON:0001954	94.05	gold quality
spinal cord	UBERON:0002240	94.05	gold quality
skin of abdomen	UBERON:0001416	93.97	gold quality
islet of Langerhans	UBERON:0000006	93.96	gold quality
heart	UBERON:0000948	93.96	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.93	gold quality
body of uterus	UBERON:0009853	93.92	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.90	gold quality
adult mammalian kidney	UBERON:0000082	93.86	gold quality
thyroid gland	UBERON:0002046	93.86	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.86	gold quality
pituitary gland	UBERON:0000007	93.80	gold quality
substantia nigra	UBERON:0002038	93.79	gold quality
superior frontal gyrus	UBERON:0002661	93.78	gold quality
aorta	UBERON:0000947	93.77	gold quality
cardiac atrium	UBERON:0002081	93.72	gold quality
ectocervix	UBERON:0012249	93.71	gold quality
left uterine tube	UBERON:0001303	93.59	gold quality
midbrain	UBERON:0001891	93.58	gold quality
omental fat pad	UBERON:0010414	93.58	gold quality
peritoneum	UBERON:0002358	93.57	gold quality
upper lobe of lung	UBERON:0008948	93.56	gold quality
upper lobe of left lung	UBERON:0008952	93.54	gold quality
gastrocnemius	UBERON:0001388	93.50	gold quality
right ovary	UBERON:0002118	93.50	gold quality
zone of skin	UBERON:0000014	93.45	gold quality
postcentral gyrus	UBERON:0002581	93.42	gold quality
body of pancreas	UBERON:0001150	93.35	gold quality
small intestine	UBERON:0002108	93.32	gold quality
parietal lobe	UBERON:0001872	93.31	gold quality
adipose tissue of abdominal region	UBERON:0007808	93.31	gold quality
leukocyte	CL:0000738	93.24	gold quality
muscle of leg	UBERON:0001383	93.24	gold quality
endocervix	UBERON:0000458	93.13	gold quality
pancreas	UBERON:0001264	93.13	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	26.01
E-ANND-3	yes	8.33

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Tongue	tissue	52.5
Locus coeruleus	tissue	45.5
Caudate putamen	tissue	45.4
Postcentral gyrus	tissue	45.2
Frontal cortex	tissue	42.4
Skeletal muscle	tissue	41.0	medium
Heart muscle	tissue	40.8	low
Superior colliculi	tissue	40.5
Tonsil	tissue	40.2	medium
Spinal cord	tissue	38.2
Pons	tissue	38.0
Thymus	tissue	37.5
Medulla oblongata	tissue	37.2
Testis	tissue	36.6	medium
Midbrain	tissue	36.3
Thalamus	tissue	36.2
Putamen	tissue	36.1
Hippocampus	tissue	35.9	medium
Cerebral cortex	tissue	35.0	medium
Fallopian tube	tissue	35.0	low
Somatosensory cortex	tissue	35.0
Basal ganglia	tissue	34.9	medium
Periaqueductal gray	tissue	34.6
Substantia nigra	tissue	34.3
Lymph node	tissue	33.3	low
Hypothalamus	tissue	33.0
Cerebellum	tissue	31.1	medium
Parathyroid gland	tissue	30.9	medium
Motor cortex	tissue	30.9
Kidney	tissue	30.8	low
Hippocampal formation	tissue	30.6
Bone marrow	tissue	30.4	low
Choroid plexus	tissue	30.2
Pancreas	tissue	30.1	medium
Ventral forebrain	tissue	29.9
Occipital cortex	tissue	29.9
Ovary	tissue	29.6	not detected
Thyroid gland	tissue	29.6	medium
Septum	tissue	29.4
Nucleus accumbens	tissue	29.3
Entorhinal cortex	tissue	29.2
Small intestine	tissue	29.1	low
Smooth muscle	tissue	28.9	low
Duodenum	tissue	28.6	medium
Temporal cortex	tissue	28.6
Skin 1	tissue	28.5	not detected
Prefrontal cortex	tissue	28.3
Corpus callosum	tissue	28.1
Retrosplenial and cingulate cortex	tissue	27.8
Retrosplenial cortex	tissue	27.8
Epididymis	tissue	27.7	medium
Pituitary gland	tissue	26.0
Rectum	tissue	25.7	low
Urinary bladder	tissue	25.7	low
Adrenal gland	tissue	25.7	medium
Insular cortex	tissue	25.5
Colon	tissue	25.4	low
Appendix	tissue	25.3	low
Stomach 1	tissue	24.8	medium
Spleen	tissue	24.8	not detected

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Pontine nuclei (55.9), Nuclei of the trapezoid body (54.7), Spinal trigeminal nucleus, interpolar (53.9), Nucleus raphe magnus (53.8), Principal sensory trigeminal nucleus (51.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting FIBP by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

9 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-4456	97.50	64.88	1678

Functional genomics

gnomAD constraint: pLI 1.92e-07, LOEUF 1.01, missense Z 1 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000357519 — one region, missense o/e 0.87.

Literature-anchored findings (GeneRIF, showing 4)

• Data Show aFGF was expressed in regenerative hepatocytes, but not in fibroblasts, suggesting its role in promoting oxidative stress produced by hepatocytes may contribute to the development of fibrous bands in hepatic cirrhosis. (PMID:17497037)
• these findings provide convincing evidence implicating FIBP aberrations in the newly recognized overgrowth syndrome and expand the associated phenotypes to include possible Wilms tumor predisposition. (PMID:27183861)
• FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma. (PMID:37564211)
• New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant. (PMID:37876348)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fibpa	ENSDARG00000016058
danio_rerio	fibpb	ENSDARG00000087666
mus_musculus	Fibp	ENSMUSG00000024911
rattus_norvegicus	Fibp	ENSRNOG00000020567
drosophila_melanogaster	Fibp	FBGN0036911

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1926233) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased erythrocyte cell number	1
increased mean corpuscular hemoglobin	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Chlorocebus aethiops	O46431	98.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
OVOL1-AS1	ncRNA	101927828
CTSW	protein-coding	1521
SNX32	protein-coding	254122
EFEMP2	protein-coding	30008
OVOL1	protein-coding	5017
MUS81	protein-coding	80198
FOSL1	protein-coding	8061
C11orf68	protein-coding	83638
CFL1	protein-coding	1072
DRAP1	protein-coding	10589
CCDC85B	protein-coding	11007

Protein

Protein identifiers

Acidic fibroblast growth factor intracellular-binding protein — O43427 (reviewed: O43427)

Alternative names: FGF-1 intracellular-binding protein

All UniProt accessions (4): E9PJW6, E9PSD3, O43427, H0YCE7

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo.

Subunit / interactions. Binds to internalized FGF1; this interaction is increased in the presence of CSNKB, suggesting a possible cooperative interaction between CSNKB and FIBP in binding to FGF1.

Subcellular location. Nucleus. Endomembrane system.

Tissue specificity. Highly expressed in heart, skeletal muscle and pancreas. Expressed at lower levels in brain. Also found in placenta, liver and kidney.

Disease relevance. Thauvin-Robinet-Faivre syndrome (TROFAS) [MIM:617107] A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
O43427-1	Long	yes
O43427-2	Short

RefSeq proteins (2): NP_004205, NP_942600 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008614	FIBP	Family

Pfam: PF05427

UniProt features (8 total): sequence variant 4, initiator methionine 1, chain 1, modified residue 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43427-F1	92.33	0.85

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes, Congenital malformations, Other congenital malformations

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear speckles

Antibody reliability (HPA): IH approved · IF supported

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 (1)

Type	Positions
N-acetylthreonine	2

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 272 (showing top): MORF_MTA1, GOBP_PLATELET_ACTIVATION, MORF_HDAC2, chr11q13, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GATA3_01, GOBP_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR, MORF_BUB3, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_RESPONSE_TO_GROWTH_FACTOR, RYTTCCTG_ETS2_B, GOBP_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_HOMOTYPIC_CELL_CELL_ADHESION, GOBP_HEMOSTASIS

GO Biological Process (2): fibroblast growth factor receptor signaling pathway (GO:0008543), platelet aggregation (GO:0070527)

GO Molecular Function (1): fibroblast growth factor binding (GO:0017134)

GO Cellular Component (5): nucleus (GO:0005634), mitochondrion (GO:0005739), endomembrane system (GO:0012505), membrane (GO:0016020), nuclear speck (GO:0016607)

GO top-level categories

11 GO namespaces:

Category	Terms
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
platelet activation	1
homotypic cell-cell adhesion	1
growth factor binding	1
cytoplasm	1
vacuole	1
plasma membrane	1
nuclear ribonucleoprotein granule	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
membrane	CC	direct assay
nuclear speck	CC	direct assay
nucleus	CC	direct assay
fibroblast growth factor binding	MF	physical interaction

Protein interactions and networks

STRING

showing 15 of 864 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FIBP	FGF1	P05230	592
FIBP	FGF16	O43320	534
FIBP	FGF18	O76093	528
FIBP	FGF22	Q9HCT0	525
FIBP	FGF20	Q9NP95	516
FIBP	FGF17	O60258	499
FIBP	FGF9	P31371	490
FIBP	C2CD5	Q86YS7	490
FIBP	FGF10	O15520	484
FIBP	FGF6	P10767	480
FIBP	FGF5	P12034	480
FIBP	FGF7	P21781	479
FIBP	FGF3	P11487	478
FIBP	FGF4	P08620	464
FIBP	FGF8	P55075	454

IntAct

Human interaction partners of FIBP in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

12 partners by confidence:

Partner	Interaction type	MIscore	Records
CDK5	association	0.840	7
DAPK1	direct interaction	0.440	1
GSK3B	physical association	0.370	1
AGRN	association	0.350	1
DNM1L	association	0.350	1
AP4B1	physical association	0.000	1
C2CD5	physical association	0.000	1
EIF6	physical association	0.000	1
GEMIN4	physical association	0.000	1
MIF	physical association	0.000	1
OGT	physical association	0.000	1
RNF32	physical association	0.000	1

BioGRID (96 interactions; top human partners by supporting records): CDK5 (Affinity Capture-MS; 8 records), C2CD5 (Affinity Capture-MS; 4 records), CABLES1 (Affinity Capture-MS; 3 records), CABLES2 (Affinity Capture-MS; 3 records), DLK1 (Affinity Capture-MS; 3 records), GRAMD1C (Affinity Capture-MS; 3 records), KIAA0195 (Affinity Capture-MS; 3 records), WDFY2 (Affinity Capture-MS; 3 records), FGF1 (Two-hybrid; 2 records), ADSL (Affinity Capture-MS), AP4B1 (Affinity Capture-MS), APP (Reconstituted Complex), AVPR1B (Affinity Capture-MS), BRD2 (Affinity Capture-MS), BRD3 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for FIBP: 109 ClinVar records (5 pathogenic / likely pathogenic); 4 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	4
Uncertain significance	65
Likely benign	15
Benign	4

Top pathogenic / likely-pathogenic (5)

Showing all 5 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
254242	NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn)	Likely pathogenic	criteria provided, single submitter	2
3064770	NM_004214.5(FIBP):c.558_559del (p.Gly187fs)	Likely pathogenic	criteria provided, single submitter	1
3065901	NM_004214.5(FIBP):c.747del (p.His250fs)	Likely pathogenic	criteria provided, single submitter	1
3572869	FIBP, 7-BP DUP, NT412-3	Pathogenic	no assertion criteria provided	1
3347904	NM_004214.5(FIBP):c.513-1G>C	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore FIBP’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 968):

Position(s)	Effect	Δscore	Sites
11:65884390–65884391	donor_loss	1.0000	4
11:65884491	acceptor_loss	1.0000	2
11:65884568–65884569	donor_loss	1.0000	5
11:65885076–65885077	donor_loss	1.0000	3
11:65885197	acceptor_gain	1.0000
11:65886320–65886321	donor_loss	1.0000	5
11:65886432–65886434	acceptor_gain	1.0000	3
11:65887598–65887599	donor_loss	1.0000	4
11:65888323	donor_gain	1.0000
11:65888332–65888333	donor_loss	1.0000	3

AlphaMissense

1,134 missense substitutions predicted likely pathogenic (of 2,361 scored), across 267 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D58	8	0.988	0.996
N140	8	0.976	0.999
D55	8	0.973	0.988
F303	8	0.965	0.992
D139	8	0.957	0.994
F8	8	0.953	0.993
F178	8	0.942	0.995
F163	8	0.938	0.996
F184	8	0.936	0.995
F237	8	0.935	0.995
F279	8	0.933	0.992
D16	8	0.918	0.966
F196	8	0.893	0.974
F99	8	0.891	0.983
H257	8	0.884	0.993
D6	8	0.883	0.949
D198	8	0.871	0.934
D119	8	0.861	0.986
D301	8	0.853	0.958
D255	8	0.828	0.975

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Lung Adenocarcinoma (validation)	unfavorable	1.06e-05
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000208
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.00075

Disease associations

OMIM: gene MIM:608296 | disease phenotypes: MIM:617107

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
tall stature-intellectual disability-renal anomalies syndrome	Strong	Autosomal recessive	4

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (6 panels, 5 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

6 panels:

Panel	Rating
DDG2P	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Fetal anomalies	amber

Mondo (3): coloboma (MONDO:0001476), learning disability (MONDO:0004681), tall stature-intellectual disability-renal anomalies syndrome (MONDO:0014918)

Orphanet (2): OBSOLETE: Ocular coloboma (Orphanet:194), Tall stature-intellectual disability-renal anomalies syndrome (Orphanet:500095)

HPO phenotypes

58 phenotypes (HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000098	Tall stature
HP:0000105	Enlarged kidney
HP:0000107	Renal cyst
HP:0000110	Renal dysplasia
HP:0000158	Macroglossia
HP:0000256	Macrocephaly
HP:0000286	Epicanthus
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000400	Macrotia
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000480	Retinal coloboma
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000518	Cataract
HP:0000589	Coloboma
HP:0000637	Long palpebral fissure
HP:0000750	Delayed speech and language development
HP:0001172	Abnormal thumb morphology
HP:0001176	Large hands
HP:0001249	Intellectual disability
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001328	Specific learning disability
HP:0001520	Large for gestational age
HP:0001548	Overgrowth
HP:0001629	Ventricular septal defect
HP:0001634	Mitral valve prolapse
HP:0001707	Abnormal right ventricle morphology
HP:0001762	Talipes equinovarus
HP:0001763	Pes planus
HP:0001833	Long foot
HP:0001840	Metatarsus adductus
HP:0001847	Long hallux
HP:0001999	Abnormal facial shape
HP:0002619	Varicose veins
HP:0002667	Nephroblastoma
HP:0002979	Bowing of the legs
HP:0002982	Tibial bowing
HP:0003298	Spina bifida occulta
HP:0003577	Congenital onset
HP:0004712	Renal malrotation
HP:0010741	Pedal edema
HP:0011407	Proportionate tall stature
HP:0011800	Midface retrusion
HP:0012385	Camptodactyly
HP:0012471	Thick vermilion border
HP:0030037	Bifid ureter
HP:0031069	Abnormal femoral torsion
HP:0100694	Tibial torsion
HP:0410252	Persistently decreased total neutrophil count
HP:0410255	Transiently decreased total neutrophil count

GWAS associations

4 associations:

Study	Trait	p-value
GCST002481_8	Acne (severe)	3e-11
GCST009798_50	Asthma	2e-9
GCST004346_27	Psoriasis	7e-9
GCST005537_172	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	4e-8

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
D007859	Learning Disabilities	C10.597.606.150.550; C23.888.592.604.150.550; F03.625.374.188; F03.625.562

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066519 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (2 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.77	Kd	17.15	nM	CHEMBL5653589
7.52	ED50	30.07	nM	CHEMBL5653589
5.75	Kd	1790	nM	CHEMBL3752910
5.50	ED50	3140	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148386: Binding affinity to human FIBP incubated for 45 mins by Kinobead based pull down assay	kd	0.0171	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148386: Binding affinity to human FIBP incubated for 45 mins by Kinobead based pull down assay	kd	1.7904	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
cobaltous chloride	decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol A	affects expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	decreases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Coumestrol	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methapyrilene	decreases methylation	1
Smoke	increases expression	1
Theophylline	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tunicamycin	increases expression	1
Vitamin E	increases expression	1
Cadmium Chloride	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651428	Binding	Binding affinity to human FIBP incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1S6	Abcam HeLa FIBP KO	Cancer cell line	Female
CVCL_D9EX	Ubigene HEK293 FIBP KO	Transformed cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

52 trials:

NCT	Phase	Status	Title
NCT00254930	Phase 3	COMPLETED	A Prospective Study of Risperdal (Risperidone) for the Treatment of Behavioral Disorder Following Psychological Therapy for Challenging Behavior in Learning Disabled Children
NCT02964884	Phase 2	ACTIVE_NOT_RECRUITING	Interventions for Reading Disabilities in NF1
NCT00368004	Not specified	TERMINATED	Family Studies of Uveal Coloboma
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT04833361	Not specified	COMPLETED	Potential Environmental Causes of Uveal Coloboma
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
NCT00246792	Phase 2/3	UNKNOWN	Enhancing Self-Understanding and Social Integration of Middle School Students With Learning Disabilities
NCT01337232	Phase 1/2	COMPLETED	Building Complex Language
NCT00061412	Not specified	COMPLETED	Comprehensive Program to Improve Reading and Writing Skills in At-Risk and Dyslexic Children
NCT00240760	Not specified	UNKNOWN	Memantine and Down’s Syndrome
NCT00930449	Not specified	COMPLETED	Effects Of A Computerized Working Memory Training Program On Attention, Working Memory, And Academics, In Adolescents With Severe ADHD/LD
NCT01032369	Not specified	UNKNOWN	The Additive Effect of Cognitive Behavioral Treatment (CBT) to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities
NCT01426451	Not specified	COMPLETED	Assessment of a Drama Workshop Program for Immigrant and Refugee Adolescents
NCT01652651	Not specified	UNKNOWN	Risk and Resilience Factors in Learning Disabilities Population
NCT01818778	Not specified	COMPLETED	The Efficacy of Using Volunteers to Implement a Cognitive Stimulation Program in Two Long-Term Care Homes
NCT02160886	Not specified	COMPLETED	Effects of a Task Oriented Intervention With Two Goal-setting Approaches
NCT02227381	Not specified	COMPLETED	Action Medical Research
NCT02345512	Not specified	COMPLETED	Investigating the Clinical and Cost Effectiveness of Lycra Splinting
NCT02797301	Not specified	COMPLETED	A Computerised Test for Assessing the Early Reading Skills
NCT02827396	Not specified	COMPLETED	Effectiveness of a Training Intervention on Mental Health of Parents for Intellectually Disabled Children in Malawi
NCT02919215	Not specified	TERMINATED	Teacher Help for Children and Youth With Mental Health Disorders
NCT02970825	Not specified	UNKNOWN	Move and Feel Good : Effects of Intensive Physical Training on Brain Plasticity, Cognition and Psychological Well-being.
NCT03255499	Not specified	UNKNOWN	Efficacy of the MovinCog Intervention in Children
NCT03522337	Not specified	COMPLETED	Oral Health Promotion Among Preschool Children With Special Needs
NCT03626272	Not specified	UNKNOWN	Effects of the in Situ Simulation to Competencies in Cardiopulmonary Resuscitation in the Nursing Team.
NCT03695068	Not specified	UNKNOWN	Efficacy of a Two-Year Intensive Reading Intervention for Middle School English Learners With Reading Difficulties
NCT03717922	Not specified	COMPLETED	Low Intensity Focused Ultrasound for Learning and Memory and Emotion Regulation
NCT03846271	Not specified	UNKNOWN	Effects of Oxytocin on Reinforcement Learning
NCT04048213	Not specified	COMPLETED	The Becoming of Children With Doose Syndrome
NCT04178421	Not specified	COMPLETED	Computerized Eye-tracking Attention Training for Children With Special Needs
NCT04280367	Not specified	COMPLETED	Learning and Executive Function Disorders in Children and Psychosis Risk at Adult-age
NCT04325282	Not specified	COMPLETED	Transcranial Magnetic Stimulation for BECTS
NCT04365894	Not specified	COMPLETED	Affective Learning in Disabled Health Training
NCT04583332	Not specified	COMPLETED	Efficacy of AAC for Functional Communication
NCT05154721	Not specified	COMPLETED	Rhythm Training of a Serious Game on the Reading Skills of Children w/ a Specific Learning Disorder Impacting Reading
NCT05201534	Not specified	RECRUITING	Interventions in Mathematics and Cognitive Skills
NCT05476133	Not specified	COMPLETED	Application of a Training Program for Executive Functions in a Sample of Egyptian Children With Learning Disorder
NCT05686473	Not specified	RECRUITING	Psychoeducation of Parents to Children With FASD
NCT05767242	Not specified	RECRUITING	Early Neurophysiological Markers of Language Impairments
NCT05803278	Not specified	COMPLETED	Online Screening and Empowerment Program for Children With SLD
NCT06479850	Not specified	UNKNOWN	A Strength-Based Intervention to Improve Job Interview Skills in Neurodiverse Young Adults
NCT06508853	Not specified	UNKNOWN	Transforming Care Experiences of Support Workers and Managers
NCT06592911	Not specified	COMPLETED	Examining the Effect of a Digital MD for Cognitive and Musical Training + Reduced Conventional SOC on the Reading and Writing Skills of Pediatric Participants With a Specific Learning Disability With Reading and/or Written Expression Deficit vs a Control Group Receiving Conventional SOC.
NCT06596980	Not specified	COMPLETED	Examining the Effect of a Digital Medical Device for Cognitive and Musical Training in Children With Reading Disabilities
NCT06780501	Not specified	RECRUITING	Neuropsychiatric Research Databases for People With Intellectual Disabilities and Epilepsy (REFINE)
NCT06902610	Not specified	COMPLETED	Examining the Medium-term Effect on Non Inferiority of the Previous Training With the DMD Poppins Clinical for Cognitive, Musical Training in Addition to Bi-monthly Speech and Reading Therapy on Reading Writing Abilities of Pediatric Patients With SLD Reading VS Control Group
NCT06934109	Not specified	COMPLETED	Narrative Exposure Therapy for Adults With an Intellectual Disability
NCT07230093	Not specified	NOT_YET_RECRUITING	Exercise and Physical Fitness in Children With Specific Learning Disabilities
NCT07419477	Not specified	NOT_YET_RECRUITING	Balance and Motor Skills in SLD Children
NCT07546292	Not specified	RECRUITING	Enhancing Letter-Speech Sound Learning and Reading Network Activation With Transcranial Electrical Stimulation
NCT07585708	Not specified	NOT_YET_RECRUITING	Learning Differences in Medical Education
NCT07778706	Not specified	NOT_YET_RECRUITING	Intervention on Mathematical Problem-Solving Skills

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for FIBP across ~30M SureChEMBL compounds — explore on Sugi Predict.