FYB2
protein-codingFYN binding protein 2
Gene summary
Involved in T cell receptor signaling pathway and cell adhesion mediated by integrin. Located in immunological synapse and membrane raft. [provided by Alliance of Genome Resources, Jul 2025]
- C1orf168
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~100.9 kbGenCC 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 FYB2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001004303.5. 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 | 1 | 2 | |||
| missense | 7 | 7 | ||||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 0 | 0 | 17 | 1 | 0 | 18 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001004303.3 | 20 | MANE Select | |
| Ensembl | ENSP00000345972.6 | 20 | MANE Select | |
| Ensembl | ENSP00000537661.1 | 18 | Standard | |
| Ensembl | ENSP00000537661.1 | 18 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- integrin-mediated signaling pathway
- cell adhesion mediated by integrin
- T cell receptor signaling pathway
- protein localization to plasma membrane
Molecular Function
- protein binding
Cellular Component
- immunological synapse
- plasma membrane
- membrane raft
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000343433
- Coding exons
- 20
- Length
- 100893
- Individuals with no LoFs
- 125473
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 275
- Defined
- 125748
- p
- 0.00109
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.329 | 379 | 361 | 1.05 | 0.0000171 | 4792 |
| Missense (PolyPhen) | 82 | 84.05 | 0.97561 | 1243 | ||
| Synonymous | 0.192 | 127 | 130 | 0.979 | 0.00000670 | 1318 |
| Loss of Function | -2.09 | 54 | 39.8 | 1.36 | 0.00000185 | 540 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00026 | 0.00025 | rare |
| Latino/Admixed American | 0.000059 | 0.000058 | rare |
| Ashkenazi Jewish | 0.0065 | 0.0062 | notable |
| East Asian | 0.0065 | 0.0062 | notable |
| Finnish | 0.00033 | 0.00032 | rare |
| European (Non-Finnish) | 0.00064 | 0.00062 | rare |
| South Asian | 0.00039 | 0.00036 | rare |
| Other | 0.0010 | 0.00098 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T- cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501). {ECO:0000269|PubMed:27335501}.;
Recessive Scores
- pRec
- 0.0724
Intolerance Scores
- RVIS EVS
- 0.82
- RVIS percentile EVS
- 88.07
Essentials
- Essential (gene trap)
- N