HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FAM131B
family with sequence similarity 131 member B
Chromosome 7 · 7q34
NCBI Gene: 9715Ensembl: ENSG00000159784.19HGNC: HGNC:22202UniProt: Q86XD5
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmcytosolcancercolorectal adenocarcinomapilocytic astrocytomamelanoma
✦AI Summary

FAM131B is a chromosome 7-localized gene involved in oncogenic fusion events and replication stress regulation. In pediatric low-grade gliomas, FAM131B participates in constitutive MAPK pathway activation through formation of FAM131B-BRAF fusion proteins via 7q34 deletions 1. These fusion events remove BRAF's N-terminal inhibitory domains, generating a constitutively active kinase with transforming activity 1. FAM131B-BRAF fusions represent an alternative mechanism to the more common KIAA1549-BRAF fusion, occurring in approximately 0.6% of pediatric low-grade glioma cases 2 and appearing more frequently in adult pilocytic astrocytomas 3. Beyond fusion-driven oncogenesis, the FAM131B-AS2 long noncoding RNA (located at 7q34) promotes glioblastoma progression by stabilizing replication protein A1 through ubiquitin-specific peptidase 7 recruitment, thereby mitigating replication stress and protecting single-stranded DNA 4. FAM131B upregulation correlates with poor glioblastoma survival and suppresses anti-tumor immunity by inhibiting CD8+ T-cell infiltration 4. Additionally, FAM131B shows significant overexpression in ACTH-secreting corticotroph pituitary adenomas associated with Cushing's disease 5. SNP array analysis and next-generation sequencing effectively detect FAM131B-BRAF fusions, supporting clinical diagnostic applications 6.

Sources cited
1
FAM131B-AS2 lncRNA promotes glioblastoma progression, stabilizes replication protein A1, mitigates replication stress, and suppresses CD8+ T-cell infiltration
PMID: 38285005
2
FAM131B is significantly overexpressed in human and canine ACTH-secreting corticotroph pituitary adenomas associated with Cushing's disease
PMID: 34517852
3
FAM131B-BRAF fusion forms via 7q34 deletion in pilocytic astrocytoma, removes BRAF inhibitory domains, and constitutively activates MEK phosphorylation
PMID: 21424530
4
FAM131B-BRAF fusions result from 7q34 deletions in pediatric low-grade gliomas and activate MAPK pathway
PMID: 25040262
5
FAM131B-BRAF fusion detected in 0.6% of pediatric low-grade glioma cases, identifiable by NanoString nCounter and FISH
PMID: 28863456
6
FAM131B-BRAF fusion deletions found in adult pilocytic astrocytomas, potentially more frequent than BRAF-KIAA1549 fusion in this population
PMID: 37984046
7
SNP array analysis detects FAM131B-BRAF fusions in pediatric brain tumors for diagnostic refinement
PMID: 24767714
8
FAM131B-BRAF fusion detected by targeted next-generation sequencing in diffuse gliomas
PMID: 30710203
Disease Associationsⓘ20
cancerOpen Targets
0.54Moderate
colorectal adenocarcinomaOpen Targets
0.19Weak
pilocytic astrocytomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
alveolar rhabdomyosarcomaOpen Targets
0.18Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.18Weak
breast ductal adenocarcinomaOpen Targets
0.18Weak
cerebellar pilocytic astrocytomaOpen Targets
0.18Weak
colon carcinomaOpen Targets
0.18Weak
cutaneous melanomaOpen Targets
0.18Weak
embryonal rhabdomyosarcomaOpen Targets
0.18Weak
gastric carcinomaOpen Targets
0.18Weak
gastrointestinal stromal tumorOpen Targets
0.18Weak
head and neck squamous cell carcinomaOpen Targets
0.18Weak
skin squamous cell carcinomaOpen Targets
0.18Weak
superficial spreading melanomaOpen Targets
0.18Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.18Weak
thyroid carcinomaOpen Targets
0.18Weak
undifferentiated pleomorphic sarcomaOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLCN6Protein interaction86%KIAA1549Protein interaction77%RNF130Protein interaction76%BRAFProtein interaction75%QKIProtein interaction72%
Tissue Expression6 tissues
Brain
100%
Heart
2%
Lung
1%
Bone Marrow
1%
Ovary
1%
Liver
0%
Gene Interaction Network
Click a node to explore
FAM131BCLCN6KIAA1549RNF130BRAFQKI
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86XD5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.48 [0.33–0.70]
RankingsWhere FAM131B stands among ~20K protein-coding genes
  • #16,157of 20,598
    Most Researched13
  • #5,351of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedFAM131B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Copy number gain of FAM131B-AS2 promotes the progression of glioblastoma by mitigating replication stress.
PMID: 38285005
Neuro Oncol · 2024
1.00
2
The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.
PMID: 34517852
BMC Endocr Disord · 2021
0.90
3
Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.
PMID: 25040262
Brain Pathol · 2015
0.80
4
Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.
PMID: 21424530
Acta Neuropathol · 2011
0.70
5
Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors.
PMID: 24767714
Cancer Genet · 2014
0.60