FAM111B (FAM111 trypsin like peptidase B)

2003-12-01  

Identity

HGNC
LOCATION
11q12.1
LOCUSID
ALIAS
CANP,POIKTMP
FUSION GENES

Other Information

Locus ID:

NCBI: 374393
MIM: 615584
HGNC: 24200
Ensembl: ENSG00000189057

Variants:

dbSNP: 374393
ClinVar: 374393
TCGA: ENSG00000189057
COSMIC: FAM111B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189057ENST00000343597Q6SJ93
ENSG00000189057ENST00000411426Q6SJ93
ENSG00000189057ENST00000529618Q6SJ93
ENSG00000189057ENST00000534403E9PS27
ENSG00000189057ENST00000620384Q6SJ93

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
242686612013Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.0
264957882016FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.0
303754322018Mutations of FAM111B gene are not associated with Systemic Sclerosis.0
313927732019Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.0
314076242019Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese.0

Citation

Dessen P

FAM111B (FAM111 trypsin like peptidase B)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/909/fam111b