help  | about  | cite  | software

Gene : FAM111B Homo sapiens

Name  ? family with sequence similarity 111 member B Cytological Location  11q12.1
Brief Description  family with sequence similarity 111 member B
Description  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]
  • synonyms:
  • BC062456,
  • POIKTMP,
  • uc001nnl.5,
  • HGNC:24200,
  • FAM111B,
  • OTTHUMG00000167279,
  • CANP,
  • family with sequence similarity 111, member B,
  • NM_198947,
  • CANP
  • identifiers:
  • 374393,
  • ENSG00000189057,
  • FAM111B

Genome feature

Region: gene ? Length: 20231  
Location: 11:59107185-59127415 Cyto location: 11q12.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

118 SN Ps

5 Cross References

17 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results