FAM111B

Gene Information
  • Official Symbol: FAM111B
  • Official Name: family with sequence similarity 111 member B
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 374393
  • UniProt: Q6SJ93
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez Summary: This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014].
  • UniProt Summary: N/A

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 16032
  • Expression level (log2 read counts): 6.21

Expression Distribution

  • Last modified: 2026/01/07 22:36
  • by 127.0.0.1