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FAM111B - FAM111 trypsin like peptidase B Gene

Also Known as CANP; POIKTMP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 374393

About FAM111B

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,107,237-59,127,412 (from NCBI)

This gene has 6 transcripts (splice variants), 253 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 4.9), appendix (RPKM 2.8) and 17 other tissues.

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]

FAM111B Products (3)

mRNA	Protein	Name
NM_001142703.2	NP_001136175.1	serine protease FAM111B isoform b
NM_001142704.2	NP_001136176.1	serine protease FAM111B isoform b
NM_198947.4	NP_945185.1	serine protease FAM111B isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAM111B Protein Structure

Trypsin_2

0
200
400
600
734 a.a.

Protein Preferred Names	Protein Names
serine protease FAM111B	cancer-associated nucleoprotein

FAM111B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FAM111B	Q6SJ93	SET	Homo sapiens	Q01105	Y2H Array	25416956
Intra	FAM111B	Q6SJ93	SET	Homo sapiens	Q01105	Y2H Prey Pooling	25416956
Intra	FAM111B	Q6SJ93	SET	Homo sapiens	Q01105	Validated Y2H	25416956
Intra	FAM111B	Q6SJ93	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	FAM111B	Q6SJ93	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	FAM111B	Q6SJ93	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	FAM111B	Q6SJ93	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	FAM111B	Q6SJ93	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	FAM111B	Q6SJ93	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	POIKTMP Hereditary Sclerosing Poikiloderma With Tendon And Pulmonary Involvement Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, And Pulmonary Fibrosis Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome Poiktmp Syndrome Poikiloderma, Hereditary Sclerosing, With Tendon And Pulmonary Involvement Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, And Pulmon Hfp Poikiloderma, Hereditary Fibrosing, Tendon Contractures, Myopathy, Pulmonary Fibrosis
Osseous Heteroplasia, Progressive	Progressive Osseous Heteroplasia POH Osteoma Cutis Familial Ectopic Ossification Ectopic Ossification Familial Type Ectopic Ossification Heterotopic Ossification Ectopic Ossification, Familial Cutaneous Ossification Myositis Ossificans Progressiva Osteodermia Osteosis Cutis Ossification Heterotopic Heteroplasia, Osseous, Progressive Fibrodysplasia Ossificans Progressiva
Pulmonary Fibrosis	Fibrosis Of Lung
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Hereditary Poikiloderma
Kenny-Caffey Syndrome, Type 2	KCS2 Kenny-Caffey Syndrome Type 2 Autosomal Dominant Kenny-Caffey Syndrome Kenny Syndrome Dwarfism, Cortical Thickening Of Tubular Bones, And Transient Hypocalcemia Dwarfism, Cortical Thickening Of Tubular Bones And Transient Hypocalcemia Kenny-Caffey Syndrome, Autosomal Dominant Kenny-Caffey Syndrome 2 Dwarfism With Cortical Thickening Of Tubular Bones And Transient Hypocalcemia Kenny-Caffey Syndrome
Nevus Of Ota	Nevus Fusculoceruleus Ophthalmomaxillaris
Kenny-Caffey Syndrome	Kenny Syndrome
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Myopathy	Muscular Diseases Myopathies
Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio Type PN Clericuzio Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type Clericuzio-Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia Clericuzio Type Immune-Deficient Poikiloderma Clericuzio-Type Poikiloderma Neutropenia Syndrome Poikiloderma With Neutropenia Clericuzio-Type Poikiloderma, With Neutropenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04679	FAM111B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown