FGF7

Summary

FGF7 (fibroblast growth factor 7, HGNC:3685) is a protein-coding gene on chromosome 15q21.2, encoding Fibroblast growth factor 7 (P21781). Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation.

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis.

Source: NCBI Gene 2252 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 1 total
• Druggable target: yes
• MANE Select transcript: NM_002009

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3685
Approved symbol	FGF7
Name	fibroblast growth factor 7
Location	15q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KGF
Ensembl gene	ENSG00000140285
Ensembl biotype	protein_coding
OMIM	148180
Entrez	2252

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000267843, ENST00000560270, ENST00000560704, ENST00000560979, ENST00000906705, ENST00000906706, ENST00000906707

RefSeq mRNA: 1 — MANE Select: NM_002009 NM_002009

CCDS: CCDS10131

Canonical transcript exons

ENST00000267843 — 4 exons

Exon	Start	End
ENSE00001122685	49484310	49488775
ENSE00001122695	49424032	49424583
ENSE00002572210	49423242	49423440
ENSE00003665719	49483151	49483254

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 99.41.

FANTOM5 (CAGE): breadth broad, TPM avg 41.0076 / max 3980.5584, expressed in 684 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146561	20.5749	563
146560	17.6422	607
146566	0.6729	261
146563	0.5866	227
146565	0.5807	212
207512	0.4566	234
146562	0.4397	236
146564	0.0539	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.41	gold quality
stromal cell of endometrium	CL:0002255	98.53	gold quality
gall bladder	UBERON:0002110	95.91	gold quality
colonic epithelium	UBERON:0000397	94.62	gold quality
nerve	UBERON:0001021	93.95	gold quality
tibial nerve	UBERON:0001323	93.95	gold quality
endocervix	UBERON:0000458	93.42	gold quality
left uterine tube	UBERON:0001303	93.37	gold quality
omental fat pad	UBERON:0010414	91.90	gold quality
peritoneum	UBERON:0002358	91.82	gold quality
body of uterus	UBERON:0009853	91.12	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.13	gold quality
sural nerve	UBERON:0015488	89.91	gold quality
ectocervix	UBERON:0012249	89.55	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.04	gold quality
right lobe of thyroid gland	UBERON:0001119	88.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.43	gold quality
right lung	UBERON:0002167	88.34	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.25	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.15	gold quality
lower esophagus	UBERON:0013473	88.14	gold quality
upper lobe of left lung	UBERON:0008952	87.82	gold quality
left coronary artery	UBERON:0001626	87.78	gold quality
right ovary	UBERON:0002118	87.66	gold quality
left ovary	UBERON:0002119	87.55	gold quality
tibial artery	UBERON:0007610	87.55	gold quality
popliteal artery	UBERON:0002250	87.50	gold quality
left lobe of thyroid gland	UBERON:0001120	87.46	gold quality
artery	UBERON:0001637	87.12	gold quality
mucosa of stomach	UBERON:0001199	86.63	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	83.29
E-HCAD-10	yes	47.95
E-HCAD-4	yes	15.77
E-CURD-46	yes	12.54
E-GEOD-130148	yes	4.39
E-GEOD-124858	no	1467.60
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ESR1, IRX1, JUN, NFKB1, NFKB, RELA, TGFB1I1

miRNA regulators (miRDB)

205 targeting FGF7, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-103A-3P	99.98	69.14	1595

Literature-anchored findings (GeneRIF, showing 40)

• KGF induced proliferation but did not cause significant differentiation of 3 hematopoietic cell lines and bone marrow cells transduced with human K-sam. (PMID:11937263)
• play important roles in lung development, lung inflammation, and repair. (PMID:11943656)
• keratinocyte growth factor (KGF), a key stimulator of epithelial cell proliferation during wound healing, preferentially binds to collagens I, III, and VI. (PMID:11973338)
• possible role of fibroblast growth factors in expression of genes of the plasminogen activator system in breast fibroblasts (PMID:12008951)
• KGF may hold promise for the treatment of very premature neonates with bronchopulmonary dysplasia. (PMID:12016100)
• Following activation by KGF binding, KGF and the KGF receptor remain associated in active complexes through the endocytic pathway, which is described. (PMID:12122441)
• activity is potentiated by dermatan sulfate binding (PMID:12215437)
• Data suggest a causal relation between telomere shortening and reduced expression of KGF and IGF-II in human fibroblasts. (PMID:12243757)
• Increased expression of HGF and KGF by buccal mucosal fibroblasts may partly be responsible for the faster wound healing with less scar formation in the oral cavity compared with normal skin. (PMID:12413766)
• lipopolysaccharide may induce proliferation of periodontal epithelial cells by upregulating keratinocyte growth factor 1 expression via the CD14 and Toll-like receptor signaling pathway (PMID:12438323)
• PAK4 interacts with KGF receptor and mediate anti-apoptosis effects of KGF on epithelial cells. (PMID:12529371)
• In the presence of keratinocytes, fibroblasts from buccal mucosa, periodontal ligament, & skin increased increased HGF and KGF production 2-3 times. This may influence the proliferation & migration of junctional epithelium and affect periodontal disease. (PMID:12645668)
• KGF is capable of inducing human fetal beta-cell expansion. (PMID:12802496)
• keratinocyte growth factor 1 may play a role in limiting mechanically induced apoptotic processes at the epithelial wound edge in a manner that is distinct from its proliferative function. (PMID:14962112)
• may have an important role in cyclosporin-induced gingival overgrowth (PMID:15250830)
• Review. The role of FGF7 in epithelial tissue repair and its therapeutic potential are discussed. (PMID:15327889)
• FGF7 was specifically identified when selecting for in vitro phosphate transport inhibitory activity of tumor-derived cultures and was confirmed as a potent inhibitor of phosphate transport. Finally, FGF7 message was confirmed in PCR products of mRNA> (PMID:15562028)
• Epidermal and hepatocyte growth factors, but not keratinocyte growth factor, modulate protein kinase Calpha translocation to the plasma membrane (PMID:15613483)
• Results demonstrate a dysregulation of keratinocyte growth factor secretion by idiopathic pulmonary fibrosis fibroblasts; weak response to IL-1beta is associated with a defect of c-Jun expression and activation and a defect of JNK activation. (PMID:15677771)
• in psoriatic lesions activated lymphocytes can stimulate fibroblasts to produce KGF and FGF-10, which in turn contribute to sustain the hyperproliferative status of the keratinocytes (PMID:15679583)
• Human embryonic pancreatic mesenchyme expresses FGF7, which might be used used to expand human embryonic pancreatic epithelial cells. (PMID:15690149)
• Expression of FGF7 in breast neoplasms may have an inhibitory role on the induction of apoptosis, possibly through the overexpression of Bcl-2. (PMID:15781986)
• FGF& overexpression seen in advanced ovarian neoplasms; FGF7 suggested to play significant role in development of ovarian neoplasms (PMID:15809711)
• KGF stimulated the proliferation of cyst-lining epithelial cell in vitro by regulating the expression of cyclin D1 and P21(wafl) genes. (PMID:16141466)
• KGF requires both 1-Phosphatidylinositol 3-Kinase and JNK Mitogen Activated Protein Kinases signaling pathways to induce SREBP-1 (PMID:16162944)
• expression of hepatocyte and keratinocyte growth factors and their receptors is preserved in patients with lung emphysema as compared to patients without emphysema (PMID:16216128)
• KGF suppresses alpha2beta1 integrin function and promotes differentiation of the transient amplifying population in prostatic epithelium. (PMID:16554439)
• Evaluation by immunohistochemistry of KGF receptor distribution, showed a down-modulation of this receptor, as previously reported in the presence of increased levels of KGF clear cell acanthoma (CCA). (PMID:16984257)
• The elevated FGF7 protein levels in gastric inflammation and gastric cancer, together with the known oncogenic potential of FGF7. (PMID:17049492)
• KGF/FGF-7 induces NF-kappaB activation and NF-kappaB plays an essential role in regulation of KGF/FGF-7-inducible gene expression and KGF/FGF-7-initiated cellular responses (PMID:17200110)
• adenosine might stimulate hair growth through FGF-7 upregulation in dermal papilla cells (PMID:17301835)
• FGF3, FGF7, FGF10, FGF18, and FGFR1 may have roles in nonsyndromic cleft lip and palate (PMID:17360555)
• Data show that enhanced expression of keratinocyte growth factor and its receptor correlates with venous invasion in pancreatic cancer. (PMID:17525264)
• the expression of keratinocyte growth factor (KGF) and keratinocyte growth factor receptor (KGFR) in Hela cells (PMID:17593825)
• KGF increased integrin alpha(5) expression by phosphorylating C/EBP-beta (PMID:17596295)
• FGF-7 is not essential for urothelial cell proliferation in response to partial outlet obstruction; however, a significant increase in FGF-10 expression was observed in the obstructed FGF-7-null group (PMID:17609292)
• Expression of keratinocyte growth factor was significantly increased in damaged liver tissue in correlation to the degree of fibrosis. (PMID:17692400)
• These results indicate that KGF enhances the adhesion of colorectal cancer cells to type-IV collagen through ERK and FAK signaling pathways. (PMID:17706640)
• High KGFR/KGF coexpression is associated with well-differentiated esophageal cancer (PMID:17786302)
• KGF-promoted melanosome transfer was more significant in light keratinocytes compared to dark, due to an increased expression of KGF receptor in light skin keratinocytes (PMID:17882267)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fgf7	ENSDARG00000059387
mus_musculus	Fgf7	ENSMUSG00000027208
rattus_norvegicus	Fgf7	ENSRNOG00000009425

Paralogs (21): FGF10 (ENSG00000070193), FGF22 (ENSG00000070388), FGF4 (ENSG00000075388), FGF20 (ENSG00000078579), FGF14 (ENSG00000102466), FGF9 (ENSG00000102678), FGF21 (ENSG00000105550), FGF8 (ENSG00000107831), FGF6 (ENSG00000111241), FGF1 (ENSG00000113578), FGF12 (ENSG00000114279), FGF23 (ENSG00000118972), FGF13 (ENSG00000129682), FGF5 (ENSG00000138675), FGF2 (ENSG00000138685), FGF18 (ENSG00000156427), FGF17 (ENSG00000158815), FGF11 (ENSG00000161958), FGF19 (ENSG00000162344), FGF3 (ENSG00000186895), FGF16 (ENSG00000196468)

Protein

Protein identifiers

Fibroblast growth factor 7 — P21781 (reviewed: P21781)

Alternative names: Heparin-binding growth factor 7, Keratinocyte growth factor

All UniProt accessions (3): P21781, A0A7U3JVY2, H0YNE7

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation.

Subunit / interactions. Interacts with FGFBP1. Interacts with FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.

Subcellular location. Secreted.

Tissue specificity. Epithelial cell.

Similarity. Belongs to the heparin-binding growth factors family.

Isoforms (2)

UniProt ID	Names	Canonical?
P21781-1	1	yes
P21781-2	2

RefSeq proteins (1): NP_002000* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002209	Fibroblast_GF_fam	Family
IPR008996	IL1/FGF	Homologous_superfamily

Pfam: PF00167

UniProt features (6 total): sequence variant 2, signal peptide 1, chain 1, glycosylation site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P21781-F1	82.67	0.66

Functional residue map

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

Glycosylation sites (1): 45

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-109704	PI3K Cascade
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-190377	FGFR2b ligand binding and activation
R-HSA-2033519	Activated point mutants of FGFR2
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5654221	Phospholipase C-mediated cascade; FGFR2
R-HSA-5654695	PI-3K cascade:FGFR2
R-HSA-5654699	SHC-mediated cascade:FGFR2
R-HSA-5654700	FRS-mediated FGFR2 signaling
R-HSA-5654727	Negative regulation of FGFR2 signaling
R-HSA-5655253	Signaling by FGFR2 in disease
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-9937080	Developmental Lineage of Multipotent Pancreatic Progenitor Cells

MSigDB gene sets: 420 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, MODULE_92, REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, GOBP_LUNG_EPITHELIUM_DEVELOPMENT, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_GLAND_MORPHOGENESIS, GOBP_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_SALIVARY_GLAND_DEVELOPMENT, NKX25_02, GOBP_KERATINOCYTE_PROLIFERATION, KEGG_MAPK_SIGNALING_PATHWAY

GO Biological Process (30): endothelial cell proliferation (GO:0001935), positive regulation of endothelial cell proliferation (GO:0001938), signal transduction (GO:0007165), positive regulation of cell population proliferation (GO:0008284), fibroblast growth factor receptor signaling pathway (GO:0008543), epidermis development (GO:0008544), response to wounding (GO:0009611), mesenchymal cell proliferation (GO:0010463), positive regulation of keratinocyte proliferation (GO:0010838), neurogenesis (GO:0022008), actin cytoskeleton organization (GO:0030036), lung development (GO:0030324), regulation of cell migration (GO:0030334), hair follicle morphogenesis (GO:0031069), protein localization to cell surface (GO:0034394), positive regulation of MAPK cascade (GO:0043410), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of epithelial cell proliferation (GO:0050679), positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731), positive chemotaxis (GO:0050918), myoblast proliferation (GO:0051450), positive regulation of keratinocyte migration (GO:0051549), positive regulation of cell division (GO:0051781), branching involved in salivary gland morphogenesis (GO:0060445), positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501), regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665), secretion by lung epithelial cell involved in lung growth (GO:0061033), regulation of synapse maturation (GO:0090128), positive regulation of myoblast proliferation (GO:2000288), epithelial cell proliferation (GO:0050673)

GO Molecular Function (5): type 2 fibroblast growth factor receptor binding (GO:0005111), growth factor activity (GO:0008083), heparin binding (GO:0008201), chemoattractant activity (GO:0042056), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), postsynapse (GO:0098794), GABA-ergic synapse (GO:0098982)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Downstream signaling of activated FGFR2	4
IRS-mediated signalling	1
Intracellular signaling by second messengers	1
FGFR2 ligand binding and activation	1
FGFR2 mutant receptor activation	1
PI3K/AKT Signaling in Cancer	1
Signaling by FGFR2	1
Signaling by FGFR in disease	1
MAPK1/MAPK3 signaling	1
Negative regulation of the PI3K/AKT network	1
Developmental Cell Lineages of the Exocrine Pancreas	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
epithelial cell proliferation	2
positive regulation of epithelial cell proliferation	2
cell population proliferation	2
receptor ligand activity	2
synapse	2
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
tissue development	1
response to stress	1
regulation of keratinocyte proliferation	1
keratinocyte proliferation	1
nervous system development	1
cell differentiation	1
cytoskeleton organization	1
actin filament-based process	1
respiratory tube development	1
animal organ development	1
respiratory system development	1
cell migration	1
regulation of cell motility	1
hair follicle development	1
anatomical structure morphogenesis	1
hair cycle process	1
epidermis morphogenesis	1
intracellular protein localization	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1

Protein interactions and networks

STRING

4262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGF7	FGFR1	P11362	997
FGF7	FGFR2	P18443	997
FGF7	EGF	P01133	993
FGF7	HSPG2	P98160	987
FGF7	KL	Q9UEF7	984
FGF7	FGFR4	P22455	983
FGF7	FGFBP1	Q14512	980
FGF7	DCN	P07585	942
FGF7	NRP1	O14786	892
FGF7	HGF	P14210	890
FGF7	CD44	P16070	888
FGF7	FGFR3	P22607	882
FGF7	CDH2	P19022	881
FGF7	CXCL8	P10145	879
FGF7	TGFB1	P01137	845
FGF7	KLB	Q86Z14	845

IntAct

8 interactions, top by confidence:

A	B	Type	Score
FGF7	FGFR2	psi-mi:“MI:0915”(physical association)	0.520
FGFR2	FGF7	psi-mi:“MI:0915”(physical association)	0.520
FGF7	UBQLN1	psi-mi:“MI:0915”(physical association)	0.440
UBQLN1	FGF7	psi-mi:“MI:0403”(colocalization)	0.440
FGF1	FGF2	psi-mi:“MI:0915”(physical association)	0.400
DESI1	FGF7	psi-mi:“MI:0915”(physical association)	0.370
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (9): FGFR2 (Reconstituted Complex), FGF7 (Reconstituted Complex), PTX3 (Reconstituted Complex), FGF7 (Reconstituted Complex), HSPG2 (Reconstituted Complex), HSPG2 (Affinity Capture-Western), HSPG2 (Two-hybrid), DESI1 (Two-hybrid), UBQLN1 (Two-hybrid)

ESM2 similar proteins: A6P7H6, O35622, O57341, O76093, O88182, O89101, P03968, P03969, P12226, P13109, P15655, P19596, P20003, P21781, P36363, P37237, P41444, P48798, P48800, P48808, P61150, P61328, P61329, P70377, P70378, P70379, P79150, Q02195, Q0VCA0, Q5D0X0, Q5MK86, Q5MPA9, Q5RAY8, Q5RDS9, Q60487, Q6DTM3, Q6GLR6, Q6PGN3, Q6SJP8, Q7M303

Diamond homologs: A0MTF4, A6P7H6, M3X9S6, O15520, O35565, O43320, O54769, P03968, P03969, P05230, P05524, P08620, P09038, P10767, P11403, P11487, P12034, P12226, P13109, P15655, P15656, P19596, P20002, P20003, P21658, P21781, P31371, P34004, P36363, P36364, P36386, P48798, P48799, P48800, P48801, P48802, P48803, P48804, P48805, P48806

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
IRX1	“down-regulates quantity by repression”	FGF7	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1117 predictions. Top by Δscore:

Variant	Effect	Δscore
15:49483136:T:A	acceptor_gain	1.0000
15:49483138:T:TA	acceptor_gain	1.0000
15:49483147:GCA:G	acceptor_loss	1.0000
15:49483148:CA:C	acceptor_loss	1.0000
15:49483149:A:AG	acceptor_gain	1.0000
15:49483150:G:GC	acceptor_gain	1.0000
15:49483150:GA:G	acceptor_gain	1.0000
15:49483150:GAT:G	acceptor_gain	1.0000
15:49483150:GATA:G	acceptor_gain	1.0000
15:49483150:GATAT:G	acceptor_gain	1.0000
15:49483202:TGGA:T	donor_gain	1.0000
15:49483234:G:GT	donor_gain	1.0000
15:49483235:A:T	donor_gain	1.0000
15:49483250:CAAAG:C	donor_loss	1.0000
15:49483251:AAAGG:A	donor_loss	1.0000
15:49483252:AAGGT:A	donor_loss	1.0000
15:49483253:AGGT:A	donor_loss	1.0000
15:49483256:T:G	donor_loss	1.0000
15:49484305:AACAG:A	acceptor_loss	1.0000
15:49484306:ACAGA:A	acceptor_loss	1.0000
15:49484308:A:AG	acceptor_gain	1.0000
15:49484308:A:C	acceptor_loss	1.0000
15:49484309:G:GA	acceptor_gain	1.0000
15:49484309:GA:G	acceptor_gain	1.0000
15:49484309:GAA:G	acceptor_gain	1.0000
15:49484309:GAAA:G	acceptor_gain	1.0000
15:49484380:C:G	donor_gain	1.0000
15:49424847:T:G	donor_gain	0.9900
15:49435699:A:G	donor_gain	0.9900
15:49483146:T:A	acceptor_gain	0.9900

AlphaMissense

1291 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:49424510:T:G	C71W	0.999
15:49483238:G:T	G125V	0.999
15:49484335:T:C	F139S	0.999
15:49484413:T:A	V165D	0.999
15:49484481:T:C	F188L	0.999
15:49484482:T:C	F188S	0.999
15:49484483:T:A	F188L	0.999
15:49484483:T:G	F188L	0.999
15:49424508:T:C	C71R	0.998
15:49424509:G:A	C71Y	0.998
15:49483189:G:C	A109P	0.998
15:49483220:T:A	L119H	0.998
15:49483238:G:A	G125E	0.998
15:49484335:T:G	F139C	0.998
15:49484430:G:T	G171W	0.998
15:49484431:G:A	G171E	0.998
15:49484431:G:T	G171V	0.998
15:49424492:A:C	R65S	0.997
15:49424492:A:T	R65S	0.997
15:49424509:G:T	C71F	0.997
15:49424556:G:T	G87W	0.997
15:49483181:G:T	G106V	0.997
15:49483198:G:A	G112R	0.997
15:49483198:G:C	G112R	0.997
15:49483198:G:T	G112W	0.997
15:49483220:T:C	L119P	0.997
15:49483237:G:A	G125R	0.997
15:49483237:G:C	G125R	0.997
15:49484330:T:G	C137W	0.997
15:49484366:C:A	N149K	0.997

dbSNP variants (sampled 300 via entrez): RS1000028952 (15:49453212 T>A), RS1000060000 (15:49452837 G>A), RS1000083641 (15:49432021 G>A), RS1000095653 (15:49446566 T>C), RS1000099087 (15:49424129 G>A), RS1000156155 (15:49425849 G>A), RS1000176067 (15:49470845 G>A), RS1000258154 (15:49446873 A>G), RS1000267643 (15:49464876 T>C,G), RS1000296107 (15:49471966 G>C), RS1000340231 (15:49485025 T>TAAA), RS1000343510 (15:49458831 A>C), RS1000374667 (15:49458469 A>G), RS1000443998 (15:49477423 A>T), RS1000468210 (15:49424632 A>G)

Disease associations

OMIM: gene MIM:148180 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001069_2	Thyroid volume	3.000000e-13
GCST001069_6	Thyroid volume	1.000000e-12
GCST001856_60	Thyroid hormone levels	6.000000e-10
GCST001856_8	Thyroid hormone levels	1.000000e-11
GCST004744_35	Lung adenocarcinoma	6.000000e-10
GCST006585_2589	Blood protein levels	1.000000e-08
GCST006585_667	Blood protein levels	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004730	hormone measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3286071 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Lipopolysaccharides	decreases response to substance, increases expression, affects cotreatment	3
Cadmium Chloride	decreases reaction, increases expression, increases secretion, decreases expression	3
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	decreases reaction, increases expression, increases phosphorylation	2
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases reaction, increases expression	2
pyrazolanthrone	decreases reaction, increases expression, increases secretion	2
Chir 99021	increases expression, affects binding, affects cotreatment	2
Cannabidiol	decreases reaction, increases expression	2
Estradiol	increases expression	2
geldanamycin	decreases reaction, increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
titanium dioxide	decreases expression	1
ascorbate-2-phosphate	increases expression, affects binding, affects cotreatment	1
trimellitic anhydride	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
chloroquine diphosphate	increases expression	1
rutecarpine	decreases expression	1
coumarin	increases phosphorylation	1
loliolide	increases expression	1
naphthalene	decreases expression, decreases response to substance	1
boric acid	increases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
pentanal	decreases expression	1
ammonium trichloro(dioxoethylene-O,O’-)tellurate	decreases reaction, increases expression	1
arabinoxylan	increases expression	1
U 0126	increases phosphorylation, decreases reaction	1
2-(2-oxo-2-((3,7,11-trimethyl-2,6,10-dodecatrienyl)oxy)aminoethyl)phosphonic acid, (2,2-dimethyl-1-oxopropoxy)methyl ester sodium	decreases reaction, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
BXL628	decreases reaction, increases phosphorylation	1
diphenylarsinic acid	decreases secretion	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
CHEMBL3293891	Binding	Binding affinity to human recombinant FGF7 by surface plasmon resonance assay	Synthesis and biological evaluation of a unique heparin mimetic hexasaccharide for structure-activity relationship studies. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A1T5	SEES3-1V human FGF7, clone1	Embryonic stem cell	Male
CVCL_A1T6	SEES3-1V human FGF7, clone2	Embryonic stem cell	Male
CVCL_A1T7	SEES3-1V human FGF7, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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