FAM111B - FAM111 trypsin like peptidase B Gene

Homo sapiens

Also known as CANP; POIKTMP

Gene ID: 374393 | Gene type: protein coding

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

FAM111B Protein Structure

Trypsin_2

0
200
400
600
734 a.a.

Protein Preferred Names

Protein Names

serine protease FAM111B

cancer-associated nucleoprotein

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

Bioactive Molecules (1)

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

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