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FAM111B

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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
family with sequence similarity 111 member B	MIM:615584	Ensembl:ENSG00000189057	HGNC:HGNC:24200	PA143485469	11q12.1

GO terms in FAM111B

Term Type	Evidence Type	GO Term ID	GO Des.
MF	IPI	GO:0005515	protein binding

Gene expression in normal tissue: FAM111B

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FAM111B

Database	Pathway ID	Pathway Des.

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD353	PD0325901	2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FAM111B

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