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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FAM111B
FAM111 trypsin like peptidase B
Chromosome 11 Β· 11q12.1
NCBI Gene: 374393Ensembl: ENSG00000189057.12HGNC: HGNC:24200UniProt: Q6SJ93
48PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnuclear laminacytoplasmserine-type peptidase activityhereditary sclerosing poikiloderma with tendon and pulmonary involvementprostate carcinomaneurodegenerative diseasemajor salivary gland cancer
✦AI Summary

FAM111B is a serine protease involved in multiple cellular processes critical for genome maintenance and cell survival. Primary Function: FAM111B functions as a serine-type peptidase 1 with roles in DNA repair, cell cycle regulation, and apoptosis 2. The protein localizes to the nucleus, nuclear lamina, and cytoplasm, where it participates in protein-DNA covalent cross-linking repair and replication fork processing 1. Mechanism: FAM111B promotes cancer progression through multiple pathways: it enhances DNA homologous recombination repair while simultaneously promoting chromosome 11 34. In esophageal cancer, FAM111B functions as a protease that degrades GSDMA, promoting tumorigenesis and chemoresistance 5. In hepatocellular carcinoma, FAM111B regulates mitochondrial dynamics by promoting MFN2 ubiquitination, driving mitophagy and drug resistance 6. Disease Relevance: FAM111B mutations cause poikiloderma, hereditary fibrosing (POIKTMP), characterized by poikiloderma, tendon contractures, myopathy, and pulmonary fibrosis 7. Mutations within the protease domain predict increased disease severity and poor prognosis 7. Clinical Significance: FAM111B overexpression is associated with poor cancer prognosis across multiple tumor types and serves as a pan-cancer biomarker 43. FAM111B represents a promising therapeutic target in cancer and fibrotic diseases.

Sources cited
1
FAM111B mutations cause POIKTMP; protein involved in DNA repair, cell cycle regulation, and apoptosis; dysregulation leads to fibrotic diseases and cancers
PMID: 35860584
2
Mutations within FAM111B protease domain associate with increased POIKTMP severity, life-threatening conditions, and poor prognosis
PMID: 35122327
3
FAM111B is part of senescence-related signature in thyroid cancer with prognostic and immunotherapy predictive value
PMID: 36761753
4
FAM111B overexpression promotes cancer progression through immune system processes, chromosome instability, DNA repair, and apoptosis regulation across multiple tumor types
PMID: 37213474
5
FAM111B functions as a protease that degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance
PMID: 37672204
6
FAM111B is a serine protease involved in DNA repair, cell cycle regulation, apoptosis, nucleo-cytoplasmic trafficking, and telomere maintenance
PMID: 38474092
7
FAM111B expression correlates with DNA homologous recombination repair genes and Th2 CD4+ T-cell infiltration across cancer types; serves as pan-cancer biomarker
PMID: 40243892
8
FAM111B regulates MFN2 stability through ubiquitination, controls mitophagy and drug resistance in hepatocellular carcinoma
PMID: 40855067
Disease Associationsβ“˜21
hereditary sclerosing poikiloderma with tendon and pulmonary involvementOpen Targets
0.75Strong
prostate carcinomaOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.26Weak
major salivary gland cancerOpen Targets
0.25Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
pulmonary fibrosisOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
bladder transitional cell carcinomaOpen Targets
0.07Suggestive
central nervous system cancerOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.06Suggestive
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosisUniProt
Pathogenic Variants7
NM_198947.4(FAM111B):c.1886T>G (p.Phe629Cys)Pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 629
NM_198947.4(FAM111B):c.1301A>C (p.Tyr434Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 434
NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp)Likely pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement|not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 621
NM_198947.4(FAM111B):c.1462del (p.Cys488fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 488
NM_198947.4(FAM111B):c.1887C>A (p.Phe629Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 629
NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly)Pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
β˜†β˜†β˜†β˜†2013β†’ Residue 627
NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn)Pathogenic
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
β˜†β˜†β˜†β˜†2013β†’ Residue 628
View on ClinVar β†—
Related Genes
TRAIPShared pathway33%TEX264Shared pathway33%GCNAShared pathway33%BOD1L1Shared pathway33%FAM111AShared pathway29%MMS22LShared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
84%
Lung
9%
Liver
7%
Ovary
2%
Heart
0%
Gene Interaction Network
Click a node to explore
FAM111BTRAIPTEX264GCNABOD1L1FAM111AMMS22L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6SJ93
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.82LoF Tolerant
pLIβ“˜
0.11Tolerant
Observed/Expected LoF0.80 [0.31–1.82]
RankingsWhere FAM111B stands among ~20K protein-coding genes
  • #9,070of 20,598
    Most Researched48
  • #3,225of 5,498
    Most Pathogenic Variants7
  • #16,654of 17,882
    Most Constrained (LOEUF)1.82
Genes detectedFAM111B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer.
PMID: 35860584
Front Oncol Β· 2022
1.00
2
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poorΒ prognosis: A review of POIKTMP cases.
PMID: 35122327
Exp Dermatol Β· 2022
0.90
3
Identification and validation of a novel senescence-related biomarker for thyroid cancer to predict the prognosis and immunotherapy.
PMID: 36761753
Front Immunol Β· 2023
0.80
4
Pan-Cancer Analysis of the Tumorigenic Effect and Prognostic Diagnostic Value of FAM111B in Human Carcinomas.
PMID: 37213474
Int J Gen Med Β· 2023
0.70
5
Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.
PMID: 37672204
Cell Oncol (Dordr) Β· 2024
0.60