Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	374393
Gene name	FAM111 trypsin like peptidase B
Gene symbol	FAM111B
Synonyms (NCBI Gene)	CANPPOIKTMP
Chromosome	11
Chromosome location	11q12.1
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 pigm

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs551644836	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs587777236	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777237	A>G	Pathogenic	Coding sequence variant, missense variant
rs587777238	G>A	Pathogenic	Coding sequence variant, missense variant
rs886039851	AGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs886039852	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555014282	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1565191262	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026841	hsa-miR-192-5p	Microarray	19074876
MIRT977246	hsa-miR-1206	CLIP-seq
MIRT977247	hsa-miR-1226	CLIP-seq
MIRT977248	hsa-miR-150	CLIP-seq
MIRT977249	hsa-miR-217	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT977253	hsa-miR-3121-5p	CLIP-seq
MIRT977254	hsa-miR-3177-5p	CLIP-seq
MIRT977255	hsa-miR-3187-3p	CLIP-seq
MIRT977256	hsa-miR-362-5p	CLIP-seq
MIRT977257	hsa-miR-3657	CLIP-seq
MIRT977258	hsa-miR-3658	CLIP-seq
MIRT977259	hsa-miR-3944-5p	CLIP-seq
MIRT977260	hsa-miR-4328	CLIP-seq
MIRT977261	hsa-miR-4435	CLIP-seq
MIRT977262	hsa-miR-450b-5p	CLIP-seq
MIRT977263	hsa-miR-4529-5p	CLIP-seq
MIRT977264	hsa-miR-4659a-3p	CLIP-seq
MIRT977265	hsa-miR-4659b-3p	CLIP-seq
MIRT977266	hsa-miR-4669	CLIP-seq
MIRT977267	hsa-miR-4701-5p	CLIP-seq
MIRT977268	hsa-miR-4713-5p	CLIP-seq
MIRT977269	hsa-miR-4716-5p	CLIP-seq
MIRT977270	hsa-miR-4733-3p	CLIP-seq
MIRT977271	hsa-miR-4778-3p	CLIP-seq
MIRT977272	hsa-miR-500b	CLIP-seq
MIRT977273	hsa-miR-518a-5p	CLIP-seq
MIRT977274	hsa-miR-527	CLIP-seq
MIRT977275	hsa-miR-532-3p	CLIP-seq
MIRT977276	hsa-miR-548g	CLIP-seq
MIRT977277	hsa-miR-548s	CLIP-seq
MIRT977278	hsa-miR-588	CLIP-seq
MIRT977279	hsa-miR-592	CLIP-seq
MIRT977280	hsa-miR-597	CLIP-seq
MIRT977281	hsa-miR-599	CLIP-seq
MIRT977282	hsa-miR-888	CLIP-seq
MIRT977283	hsa-miR-1267	CLIP-seq
MIRT977284	hsa-miR-1297	CLIP-seq
MIRT977285	hsa-miR-26a	CLIP-seq
MIRT977286	hsa-miR-26b	CLIP-seq
MIRT977253	hsa-miR-3121-5p	CLIP-seq
MIRT977255	hsa-miR-3187-3p	CLIP-seq
MIRT977287	hsa-miR-3189-5p	CLIP-seq
MIRT977256	hsa-miR-362-5p	CLIP-seq
MIRT977261	hsa-miR-4435	CLIP-seq
MIRT977288	hsa-miR-4465	CLIP-seq
MIRT977289	hsa-miR-4520b-3p	CLIP-seq
MIRT977290	hsa-miR-4529-3p	CLIP-seq
MIRT977263	hsa-miR-4529-5p	CLIP-seq
MIRT977291	hsa-miR-4650-3p	CLIP-seq
MIRT977264	hsa-miR-4659a-3p	CLIP-seq
MIRT977265	hsa-miR-4659b-3p	CLIP-seq
MIRT977267	hsa-miR-4701-5p	CLIP-seq
MIRT977292	hsa-miR-4747-3p	CLIP-seq
MIRT977293	hsa-miR-4773	CLIP-seq
MIRT977271	hsa-miR-4778-3p	CLIP-seq
MIRT977272	hsa-miR-500b	CLIP-seq
MIRT977277	hsa-miR-548s	CLIP-seq
MIRT977278	hsa-miR-588	CLIP-seq
MIRT977246	hsa-miR-1206	CLIP-seq
MIRT977294	hsa-miR-2682	CLIP-seq
MIRT977253	hsa-miR-3121-5p	CLIP-seq
MIRT977295	hsa-miR-375	CLIP-seq
MIRT977260	hsa-miR-4328	CLIP-seq
MIRT977296	hsa-miR-449c	CLIP-seq
MIRT977297	hsa-miR-4506	CLIP-seq
MIRT977298	hsa-miR-4726-3p	CLIP-seq
MIRT977299	hsa-miR-622	CLIP-seq
MIRT977300	hsa-miR-940	CLIP-seq
MIRT977247	hsa-miR-1226	CLIP-seq
MIRT2223952	hsa-miR-135a	CLIP-seq
MIRT2223953	hsa-miR-135b	CLIP-seq
MIRT2223954	hsa-miR-2113	CLIP-seq
MIRT977249	hsa-miR-217	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT2223955	hsa-miR-3146	CLIP-seq
MIRT2223956	hsa-miR-3160-5p	CLIP-seq
MIRT2223957	hsa-miR-330-3p	CLIP-seq
MIRT2223958	hsa-miR-3942-3p	CLIP-seq
MIRT2223959	hsa-miR-3945	CLIP-seq
MIRT2223960	hsa-miR-4253	CLIP-seq
MIRT2223961	hsa-miR-4687-3p	CLIP-seq
MIRT977269	hsa-miR-4716-5p	CLIP-seq
MIRT977298	hsa-miR-4726-3p	CLIP-seq
MIRT977270	hsa-miR-4733-3p	CLIP-seq
MIRT977273	hsa-miR-518a-5p	CLIP-seq
MIRT977274	hsa-miR-527	CLIP-seq
MIRT977279	hsa-miR-592	CLIP-seq
MIRT977280	hsa-miR-597	CLIP-seq
MIRT977281	hsa-miR-599	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT2223959	hsa-miR-3945	CLIP-seq
MIRT2223960	hsa-miR-4253	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	36610347, 37342232
GO:0005652	Component	Nuclear lamina	IDA	36610347
GO:0005737	Component	Cytoplasm	IDA	36610347, 37342232
GO:0006260	Process	DNA replication	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IDA	32776417
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
615584	24200	ENSG00000189057

Q6SJ93

Protein name

Serine protease FAM111B (EC 3.4.21.-) (Cancer-associated nucleoprotein)

Protein function

Serine protease.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13365	Trypsin_2	475 → 664		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:24268661}.

Sequence

MNSMKTEENKSFSAMEDDQRTRPEVSKDTVMKQTHADTPVDHCLSGIRKCSSTFKLKSEV
NKHETALEMQNPNLNNKECCFTFTLNGNSRKLDRSVFTAYGKPSESIYSALSANDYFSER
IKNQFNKNIIVYEEKTIDGHINLGMPLKCLPSDSHFKITFGQRKSSKEDGHILRQCENPN
MECILFHVVAIGRTRKKIVKINELHEKGSKLCIYALKGETIEGALCKDGRFRSDIGEFEW
KLKEGHKKIYGKQSMVDEVSGKVLEMDISKKKALQQKDIHKKIKQNESATDEINHQSLIQ
SKKKVHKPKKDGETKDVEHSREQILPPQDLSHYIKDKTRQTIPRIRNYYFCSLPRKYRQI
NSQVRRRPHLGRRYAINLDVQKEAINLLKNYQTLNEAIMHQYPNFKEEAQWVRKYFREEQ
KRMNLSPAKQFNIYKKDFGKMTANSVSVATCEQLTYYSKSVGFMQWDNNGNTGNATCFVF
NGGYIFTCRHVVHLMVGKNTHPSLWPDIISKCAKVTFTYTEFCPTPDNWFSIEPWLKVSN
ENLDYAILKLKENGNAFPPGLWRQISPQPSTGLIYLIGHPEGQIKKIDGCTVIPLNERLK
KYPNDCQDGLVDLYDTTSNVYCMFTQRSFLSEVWNTHTLSYDTCFSDGSSGSPVFNASGK
LVALHTFGLFYQRGFNVHALIEFGYSMDSILCDIKKTNESLYKSLNDEKLETYDEEKGKQ
ESSLQDHQIEPMEC

Sequence length

734

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Likely pathogenic; Pathogenic	rs587777236, rs587777237, rs587777238, rs2135405575	RCV000106317 RCV000106318 RCV000106319 RCV002221437	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAM111B-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31114230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34071532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31114230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	24268661, 26471370, 30375432, 36875114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	24268661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26495788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	26495788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31114230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	26471370, 32776417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	8088891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	31392773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31114230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35077391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36408702	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	BEFREE	24268661, 26471370, 31392773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	UNIPROT_DG	24268661		★★★★★ ★☆☆☆☆ Found in Text Mining only
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	GENOMICS_ENGLAND_DG	24268661, 26495788		★★★★★ ★☆☆☆☆ Found in Text Mining only
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	ORPHANET_DG	24268661		★★★★★ ★☆☆☆☆ Found in Text Mining only
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	CLINVAR_DG	24268661, 26471370, 26495788		★★★★★ ★☆☆☆☆ Found in Text Mining only
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	BEFREE	31392773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24268661, 26471370, 31392773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	24268661, 26471370, 30375432, 36875114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	24268661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30375432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30375432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35864964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28639897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FAM111B (FAM111 trypsin like peptidase B)