FGFR1OP2

protein-coding

FGFR1 oncogene partner 2, the group of STRIPAK complex

Gene summary

Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_015633.3

Inheritance

—

ClinVar variants

U:29B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr12:26,938,470-26,966,650

External References & Databases

Ensembl (ENSG00000111790)

Transcript & Mutation Effects

hg38 • Region Span ~28.2 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FGFR1OP2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 28

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015633.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			28 clinvar	1 clinvar		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	1	0	30

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015633.3	RefSeq	NP_056448.1	6	MANE Select
ENST00000229395.8	Ensembl	ENSP00000229395.3	6	MANE Select
NM_001171887.2	RefSeq	NP_001165358.1	5	Standard
NM_001171888.2	RefSeq	NP_001165359.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

VEGF Signaling Pathway
Disease
Signaling by FGFR in disease
Signaling by cytosolic FGFR1 fusion mutants
FGFR1 mutant receptor activation

Biological Process

peptidyl-tyrosine phosphorylation
wound healing

Molecular Function

protein tyrosine kinase activity
protein binding
protein homodimerization activity

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000229395
Coding exons: 6
Length: 28268
Individuals with no LoFs: 125727
Homozygous LoFs: 0
Heterozygous LoFs: 18
Defined: 125745
p: 0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.04	108	143	0.755	0.00000802	1684
Missense (PolyPhen)		33	46.631	0.70768		590
Synonymous	0.200	50	51.8	0.965	0.00000329	449
Loss of Function	1.95	8	16.6	0.483	0.00000110	163

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000072	0.000070	rare
South Asian	0.000034	0.000033	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in wound healing pathway. {ECO:0000250}.;

Recessive Scores

pRec: 0.127

Intolerance Scores

LoFtool: 0.153
RVIS EVS: -0.36
RVIS percentile EVS: 28.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.967

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium