FAM111B

Summary

FAM111B (FAM111 trypsin like peptidase B, HGNC:24200) is a protein-coding gene on chromosome 11q12.1, encoding Serine protease FAM111B (Q6SJ93). Serine protease.

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.

Source: NCBI Gene 374393 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary sclerosing poikiloderma with tendon and pulmonary involvement (Strong, GenCC)
• Clinical variants (ClinVar): 157 total — 3 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 21
• MANE Select transcript: NM_198947

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24200
Approved symbol	FAM111B
Name	FAM111 trypsin like peptidase B
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	CANP
Ensembl gene	ENSG00000189057
Ensembl biotype	protein_coding
OMIM	615584
Entrez	374393

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000343597, ENST00000411426, ENST00000528234, ENST00000529618, ENST00000534403, ENST00000620384, ENST00000935978

RefSeq mRNA: 3 — MANE Select: NM_198947 NM_001142703, NM_001142704, NM_198947

CCDS: CCDS44611, CCDS7972

Canonical transcript exons

ENST00000343597 — 4 exons

Exon	Start	End
ENSE00001372240	59109540	59109706
ENSE00001375783	59124179	59127412
ENSE00001520465	59108668	59108712
ENSE00001520466	59107237	59107296

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 87.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7968 / max 136.1358, expressed in 1014 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114374	4.3620	924
114372	0.7273	402
114373	0.5197	331
114371	0.1877	104

Top tissues by expression

227 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	87.39	gold quality
buccal mucosa cell	CL:0002336	84.42	gold quality
ganglionic eminence	UBERON:0004023	83.21	gold quality
ventricular zone	UBERON:0003053	81.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.44	gold quality
rectum	UBERON:0001052	76.58	gold quality
vermiform appendix	UBERON:0001154	76.07	gold quality
stromal cell of endometrium	CL:0002255	74.79	gold quality
mucosa of transverse colon	UBERON:0004991	74.54	gold quality
lymph node	UBERON:0000029	72.56	gold quality
adrenal tissue	UBERON:0018303	71.54	gold quality
colonic epithelium	UBERON:0000397	70.06	gold quality
smooth muscle tissue	UBERON:0001135	69.57	gold quality
esophagus mucosa	UBERON:0002469	69.42	gold quality
caecum	UBERON:0001153	68.38	gold quality
lower esophagus mucosa	UBERON:0035834	65.78	gold quality
cortical plate	UBERON:0005343	64.56	gold quality
granulocyte	CL:0000094	63.84	gold quality
bone marrow cell	CL:0002092	63.50	silver quality
endometrium	UBERON:0001295	63.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	63.00	gold quality
oocyte	CL:0000023	61.17	gold quality
islet of Langerhans	UBERON:0000006	59.79	gold quality
tonsil	UBERON:0002372	59.68	gold quality
transverse colon	UBERON:0001157	59.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	59.35	gold quality
small intestine	UBERON:0002108	58.72	gold quality
spleen	UBERON:0002106	58.66	gold quality
gall bladder	UBERON:0002110	57.98	gold quality
minor salivary gland	UBERON:0001830	57.44	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	140.18
E-CURD-112	yes	39.57
E-MTAB-6911	no	242.42
E-CURD-119	no	213.10
E-MTAB-7008	no	132.42
E-ANND-3	no	3.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

60 targeting FAM111B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-5584-3P	99.23	68.79	1351

Literature-anchored findings (GeneRIF, showing 17)

• Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (PMID:24268661)
• Data indicate a heterozygous germline in-frame deletion in the gene FAM111B protein (c.1261_1263delAAG, p.Lys421del) cosegregated with the phenotype. (PMID:26495788)
• One rare variant was found in a patient with SSc but has no functional or structural impact on the FAM111B gene. In this cohort, FAM111B gene mutations are not associated with SSc. (PMID:30375432)
• This is the first report of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) in a Chinese family due to a novel FAM111B mutation. (PMID:31392773)
• Mutation in the FAM111B gene is associated with nevus of Ota with choroidal melanoma. (PMID:31407624)
• FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease. (PMID:32776417)
• Differential Regulation of Cellular FAM111B by Human Adenovirus C Type 5 E1 Oncogenes. (PMID:34071532)
• YY1-Induced Transcriptional Activation of FAM111B Contributes to the Malignancy of Breast Cancer. (PMID:34802969)
• Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases. (PMID:35122327)
• DNMT3B-mediated FAM111B methylation promotes papillary thyroid tumor glycolysis, growth and metastasis. (PMID:35864964)
• Clinicopathological features, prognostic significance, and associated tumor cell functions of family with sequence similarity 111 member B in pancreatic adenocarcinoma. (PMID:36408702)
• FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening. (PMID:36610347)
• Silencing of FAM111B inhibits tumor growth and promotes apoptosis by decreasing AKT activity in ovarian cancer. (PMID:37095701)
• Silencing of FAM111B inhibited proliferation, migration and invasion of hepatoma cells through activating p53 pathway. (PMID:37270349)
• Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance. (PMID:37672204)
• Family with sequence similarity 111 member B contributes to tumor growth and metastasis by mediating cell proliferation, invasion, and EMT via transforming acidic coiled-coil protein 3/PI3K/AKT signaling pathway in hepatocellular carcinoma. (PMID:37782700)
• Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications. (PMID:38474092)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000101104
danio_rerio	fam111.2	ENSDARG00000101556

Paralogs (1): FAM111A (ENSG00000166801)

Protein

Protein identifiers

Serine protease FAM111B — Q6SJ93 (reviewed: Q6SJ93)

Alternative names: Cancer-associated nucleoprotein

All UniProt accessions (2): E9PS27, Q6SJ93

UniProt curated annotations — full annotation on UniProt →

Function. Serine protease.

Tissue specificity. Widely expressed.

Disease relevance. Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the FAM111 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6SJ93-1	1	yes
Q6SJ93-2	2

RefSeq proteins (3): NP_001136175, NP_001136176, NP_945185* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR043504

Pfam: PF13365

UniProt features (19 total): sequence variant 5, region of interest 3, compositionally biased region 3, active site 3, chain 1, modified residue 1, cross-link 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6SJ93-F1	69.32	0.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 490 (charge relay system); 544 (charge relay system); 650 (charge relay system)

Post-translational modifications (2): 1, 284

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 131 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, FISCHER_G1_S_CELL_CYCLE, GOBP_DNA_DAMAGE_RESPONSE, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, FISCHER_DREAM_TARGETS, GOBP_DNA_REPLICATION, GOCC_NUCLEAR_ENVELOPE, GOBP_PROTEOLYSIS, GOCC_NUCLEAR_PERIPHERY, GOBP_DNA_METABOLIC_PROCESS, GOBP_DNA_TEMPLATED_DNA_REPLICATION, NUYTTEN_NIPP1_TARGETS_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_PEPTIDASE_ACTIVITY

GO Biological Process (2): DNA replication (GO:0006260), proteolysis (GO:0006508)

GO Molecular Function (4): serine-type peptidase activity (GO:0008236), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nuclear lamina (GO:0005652), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
DNA metabolic process	1
DNA biosynthetic process	1
protein metabolic process	1
peptidase activity	1
serine hydrolase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear envelope	1
nuclear periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM111B	SCLT1	Q96NL6	454
FAM111B	CCDC73	Q6ZRK6	450
FAM111B	CDCP2	Q5VXM1	450
FAM111B	TMEM185B	Q9H7F4	447
FAM111B	ZDBF2	Q9HCK1	432
FAM111B	JPH4	Q96JJ6	431
FAM111B	PKHD1L1	Q86WI1	424
FAM111B	PRRT2	Q7Z6L0	405
FAM111B	NKTR	P30414	399
FAM111B	PABPC3	Q9H361	396
FAM111B	RBM10	P98175	391
FAM111B	XIRP2	A4UGR9	381
FAM111B	ZNF367	Q7RTV3	381
FAM111B	CSMD3	Q7Z407	366
FAM111B	A0A087WUM3	A0A087WUM3	352

IntAct

65 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
FAM111B	SET	psi-mi:“MI:0915”(physical association)	0.670
SET	FAM111B	psi-mi:“MI:0915”(physical association)	0.560
FAM111B	DNM2	psi-mi:“MI:0915”(physical association)	0.560
FAM111B		psi-mi:“MI:0915”(physical association)	0.560
GRN	FAM111B	psi-mi:“MI:0915”(physical association)	0.560
FAM111B	WFS1	psi-mi:“MI:0915”(physical association)	0.560
HTT	FAM111B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (38): FAM111B (Two-hybrid), FAM111B (Affinity Capture-RNA), FAM111B (Affinity Capture-RNA), FAM111B (Proximity Label-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Affinity Capture-MS), FAM111B (Two-hybrid), FAM111B (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YXX9, A0A7H0DNF0, A6QR20, D3ZSP7, O15050, O61766, O76720, O88196, P0DUE1, P53804, P79161, P79340, Q0V9U8, Q13075, Q18008, Q1LVQ2, Q28579, Q3UPF5, Q5Q0E6, Q5RA75, Q5RBY8, Q5TEA3, Q5U228, Q5XJY6, Q67E01, Q6AX58, Q6NU22, Q6NU51, Q6SJ93, Q6ZN28, Q7KLI1, Q7TPV2, Q86Y13, Q8AXQ3, Q8BGT8, Q8BMD7, Q8N157, Q8QMP8, Q8R3P9, Q8TDB6

Diamond homologs: Q6SJ93, Q96PZ2, Q9D2L9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Eukaryotic Translation Initiation	5	45.4×	7e-07
Cap-dependent Translation Initiation	5	45.4×	7e-07
SARS-CoV-1 modulates host translation machinery	5	45.4×	7e-07
Eukaryotic Translation Elongation	5	41.0×	1e-06
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	5	40.0×	1e-06
Nonsense-Mediated Decay (NMD)	5	34.3×	3e-06
rRNA processing in the nucleus and cytosol	7	33.1×	2e-08
SARS-CoV-2 modulates host translation machinery	5	32.9×	3e-06

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	8	36.1×	2e-08
translation	7	17.5×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

157 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	4
Uncertain significance	112
Likely benign	21
Benign	7

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
120218	NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly)	Pathogenic
120219	NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn)	Pathogenic
1676282	NM_198947.4(FAM111B):c.1886T>G (p.Phe629Cys)	Pathogenic
120217	NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp)	Likely pathogenic
1319223	NM_198947.4(FAM111B):c.1301A>C (p.Tyr434Ser)	Likely pathogenic
452429	NM_198947.4(FAM111B):c.1887C>A (p.Phe629Leu)	Likely pathogenic
599012	NM_198947.4(FAM111B):c.1462del (p.Cys488fs)	Likely pathogenic

SpliceAI

518 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59107292:GTTCT:G	donor_gain	1.0000
11:59107297:G:GG	donor_gain	1.0000
11:59124176:A:AG	acceptor_gain	1.0000
11:59124176:AAG:A	acceptor_gain	1.0000
11:59124177:A:G	acceptor_gain	1.0000
11:59109538:A:AG	acceptor_gain	0.9900
11:59109538:A:G	acceptor_loss	0.9900
11:59109539:G:GA	acceptor_loss	0.9900
11:59109539:G:GG	acceptor_gain	0.9900
11:59109539:GAC:G	acceptor_gain	0.9900
11:59109539:GACA:G	acceptor_gain	0.9900
11:59109702:CAAAG:C	donor_loss	0.9900
11:59109703:AAAGG:A	donor_loss	0.9900
11:59109705:AGG:A	donor_loss	0.9900
11:59109706:GG:G	donor_loss	0.9900
11:59109707:G:A	donor_loss	0.9900
11:59109708:T:A	donor_loss	0.9900
11:59124177:AG:A	acceptor_gain	0.9900
11:59124178:G:A	acceptor_gain	0.9900
11:59124178:G:GG	acceptor_gain	0.9900
11:59124178:GGAT:G	acceptor_gain	0.9900
11:59124178:GGATA:G	acceptor_gain	0.9900
11:59107294:TCTGT:T	donor_loss	0.9800
11:59107295:CTGTG:C	donor_loss	0.9800
11:59107297:G:T	donor_loss	0.9800
11:59107298:T:A	donor_loss	0.9800
11:59109535:TTTAG:T	acceptor_gain	0.9800
11:59109536:TTAGA:T	acceptor_gain	0.9800
11:59109537:TAGAC:T	acceptor_gain	0.9800
11:59109538:AGAC:A	acceptor_gain	0.9800

AlphaMissense

4947 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:59125646:T:C	F517L	0.989
11:59125648:C:A	F517L	0.989
11:59125648:C:G	F517L	0.989
11:59124779:G:C	D228H	0.987
11:59124815:T:A	W240R	0.986
11:59124815:T:C	W240R	0.986
11:59124789:T:C	F231S	0.985
11:59124653:T:C	F186L	0.983
11:59124655:T:A	F186L	0.983
11:59124655:T:G	F186L	0.983
11:59124780:A:C	D228A	0.982
11:59124785:C:A	R230S	0.982
11:59124788:T:C	F231L	0.978
11:59124790:T:A	F231L	0.978
11:59124790:T:G	F231L	0.978
11:59125528:C:G	C477W	0.978
11:59124781:T:A	D228E	0.977
11:59124781:T:G	D228E	0.977
11:59124786:G:C	R230P	0.977
11:59124780:A:T	D228V	0.975
11:59125529:T:C	F478L	0.975
11:59125531:T:A	F478L	0.975
11:59125531:T:G	F478L	0.975
11:59126015:A:C	S640R	0.975
11:59126017:T:A	S640R	0.975
11:59126017:T:G	S640R	0.975
11:59124654:T:C	F186S	0.974
11:59125526:T:C	C477R	0.973
11:59124338:T:C	F81L	0.970
11:59124340:C:A	F81L	0.970

dbSNP variants (sampled 300 via entrez): RS1000138597 (11:59112097 A>C,T), RS1000183372 (11:59115613 A>G), RS1000184245 (11:59115778 G>A), RS1000295074 (11:59121902 T>C), RS1000325693 (11:59122106 C>T), RS1000611472 (11:59116089 C>A), RS1000625787 (11:59120438 A>G), RS1000709582 (11:59120804 T>A), RS1000736057 (11:59121694 C>G), RS1000825521 (11:59105734 A>G,T), RS1000839166 (11:59126802 A>G), RS1000922754 (11:59114229 C>G), RS1000978401 (11:59127454 C>A,G), RS1001513193 (11:59121637 A>G), RS1001626353 (11:59127843 T>C)

Disease associations

OMIM: gene MIM:615584 | disease phenotypes: MIM:615704

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Moderate	AD

Mondo (2): hereditary sclerosing poikiloderma with tendon and pulmonary involvement (MONDO:0014310), pulmonary fibrosis (MONDO:0002771)

Orphanet (1): Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome (Orphanet:221043)

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000518	Cataract
HP:0000653	Sparse eyelashes
HP:0000823	Delayed puberty
HP:0000966	Hypohidrosis
HP:0001029	Poikiloderma
HP:0001055	Erysipelas
HP:0001324	Muscle weakness
HP:0001510	Growth delay
HP:0001596	Alopecia
HP:0002091	Restrictive ventilatory defect
HP:0002164	Nail dysplasia
HP:0002206	Pulmonary fibrosis
HP:0002240	Hepatomegaly
HP:0002522	Areflexia of lower limbs
HP:0002650	Scoliosis
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003577	Congenital onset
HP:0034392	Joint contracture
HP:0045075	Sparse eyebrow

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011658	Pulmonary Fibrosis	C08.381.483.652; C23.550.355.644

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

88 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects expression, decreases expression, affects cotreatment	6
bisphenol A	affects expression, decreases expression	3
Benzo(a)pyrene	increases methylation, decreases expression, increases expression	3
Valproic Acid	affects cotreatment, increases expression	3
Cyclosporine	decreases expression	3
Air Pollutants	affects methylation, increases abundance, decreases expression	2
Niclosamide	decreases expression	2
Aflatoxin B1	decreases methylation, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
afuresertib	decreases expression	1
TAK-243	decreases sumoylation	1
sotorasib	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
geldanamycin	increases expression	1
methylmercuric chloride	decreases expression	1
lasiocarpine	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
terbufos	increases methylation	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	increases abundance, decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

203 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04619680	PHASE4	COMPLETED	The Study of the Use of Nintedanib in Slowing Lung Disease in Patients With Fibrotic or Non-Fibrotic Interstitial Lung Disease Related to COVID-19
NCT07570888	PHASE4	NOT_YET_RECRUITING	This is a Trial Designed to Evaluate the Combination of Nerandomilast With Mycophenolate Across a Wide Variety of Pulmonary Fibrosis Subtypes, With the Aim of Providing Clinicians With Assurance That This is an Appropriate Therapeutic Combination.
NCT00004563	PHASE3	COMPLETED	Scleroderma Lung Disease
NCT00052039	PHASE3	TERMINATED	A Randomized, Double-Blind, Three-Arm, Phase 3b Study Comparing the Safety and Efficacy of Interferon Gamma-1b With Azathioprine, and Azathioprine Alone in Patients With IPF Receiving Prednisone
NCT00075998	PHASE3	TERMINATED	The INSPIRE Trial: A Study of Interferon Gamma-1b for Idiopathic Pulmonary Fibrosis (IPF)
NCT00076635	PHASE3	TERMINATED	An Open-Label Study of the Safety of Interferon Gamma-1b in Patients With IPF
NCT00517933	PHASE3	COMPLETED	Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis
NCT00639496	PHASE3	COMPLETED	Study of the Effects of High-dose N-acetylcysteine (NAC) in Idiopathic Pulmonary Fibrosis (IPF)
NCT00650091	PHASE3	COMPLETED	Evaluating the Effectiveness of Prednisone, Azathioprine, and N-acetylcysteine in Patients With IPF
NCT00896155	PHASE3	UNKNOWN	Trial of Concurrent Versus Sequential Tamoxifen With Radiotherapy in Breast Cancer Patients
NCT01335464	PHASE3	COMPLETED	Safety and Efficacy of BIBF 1120 at High Dose in Idiopathic Pulmonary Fibrosis Patients
NCT01335477	PHASE3	COMPLETED	Safety and Efficacy of BIBF 1120 at High Dose in Idiopathic Pulmonary Fibrosis Patients II
NCT01570764	PHASE3	COMPLETED	Cyclophosphamide Systemic Sclerosis Associated Interstitial Lung Disease
NCT03267108	PHASE3	TERMINATED	A Study to Assess Pulsed Inhaled Nitric Oxide in Subjects With Pulmonary Fibrosis at Risk for Pulmonary Hypertension
NCT04905693	PHASE3	ENROLLING_BY_INVITATION	Extension Study of Inhaled Treprostinil in Subjects With Fibrotic Lung Disease
NCT04979884	PHASE3	COMPLETED	Safety and Effectiveness of Cyclosporin in the Management of COVID19 ARDS Patients in Alexandria University Hospital
NCT05943535	PHASE3	RECRUITING	Study of the Efficacy and Safety of Inhaled Treprostinil in Subjects With Progressive Pulmonary Fibrosis (TETON-PPF)
NCT06025578	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy, Safety, and Tolerability of BMS-986278 in Participants With Progressive Pulmonary Fibrosis
NCT06238622	PHASE3	RECRUITING	A Follow-up Study to Test Long-term Treatment With Nerandomilast in People With Pulmonary Fibrosis Who Took Part in a Previous Study With Nerandomilast
NCT07201922	PHASE3	RECRUITING	A Study to Test Whether Nerandomilast Can Help Slow Down Changes in the Lung in People With a Family History of Pulmonary Fibrosis
NCT07441408	PHASE3	NOT_YET_RECRUITING	Long-term Extension Study to Evaluate Safety and Tolerability of Admilparant in Participants With Pulmonary Fibrosis
NCT07503587	PHASE3	NOT_YET_RECRUITING	Evaluating the Efficacy and Safety of of HSK44459 in People With Progressive Pulmonary Fibrosis
NCT00000596	PHASE2	COMPLETED	Diffuse Fibrotic Lung Disease
NCT00001596	PHASE2	COMPLETED	Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
NCT00052052	PHASE2	COMPLETED	An Open-Label Study of the Safety and Efficacy of Subcutaneous Recombinant Interferon-Gamma 1b (IFN-Gamma 1b) in Patients With Idiopathic Pulmonary Fibrosis (IPF)
NCT00063869	PHASE2	COMPLETED	Study Evaluating the Safety and Efficacy of Etanercept in Patients With Idiopathic Pulmonary Fibrosis
NCT00080223	PHASE2	COMPLETED	Safety Study of Oral Pirfenidone in Patients With Pulmonary Fibrosis/Idiopathic Pulmonary Fibrosis
NCT00109681	PHASE2	COMPLETED	Inhaled Iloprost in Adults With Abnormal Pulmonary Pressure and Associated With Idiopathic Pulmonary Fibrosis
NCT00352482	PHASE2	COMPLETED	Sildenafil to Increase Exercise Capacity in Individuals With Idiopathic Pulmonary Fibrosis and Pulmonary Hypertension
NCT00455767	PHASE2	COMPLETED	Safety and Efficacy Study of Depelestat in Acute Respiratory Distress Syndrome (ARDS) Patients
NCT00514683	PHASE2	COMPLETED	Safety And Efficacy of BIBF 1120 in Idiopathic Pulmonary Fibrosis
NCT00690885	PHASE2	TERMINATED	Interferon-alpha Treatment of Chronic Cough in Chronic Obstructive Pulmonary Disease and Idiopathic Pulmonary Fibrosis
NCT00786201	PHASE2	COMPLETED	A Study to Evaluate the Safety and Effectiveness of CNTO 888 Administered Intravenously (IV) in Participants With Idiopathic Pulmonary Fibrosis (IPF)
NCT01135199	PHASE2	WITHDRAWN	Pomalidomide for Cough in Patients With Idiopathic Pulmonary Fibrosis
NCT01170065	PHASE2	COMPLETED	Roll Over Study From 1199.30 BIBF 1120 in Idiopathic Pulmonary Fibrosis (IPF)
NCT01203943	PHASE2	TERMINATED	A Study to Characterize the Safety, PK and Biological Activity of CC-930 in Idiopathic Pulmonary Fibrosis (IPF)
NCT01417156	PHASE2	COMPLETED	Safety and PK Study of BIBF 1120 in Japanese Patients With IPF: Follow up Study From 1199.31(NCT01136174)
NCT01442779	PHASE2	COMPLETED	Clinical Trial of Low Dose Oral Interferon Alpha in Idiopathic Pulmonary Fibrosis
NCT01917877	PHASE2	UNKNOWN	Efficiency Study for Acute Radiation-induced and Chemotherapy-induced Pulmonary Fibrosis With Bevasizumab
NCT02603068	PHASE2	WITHDRAWN	Oral Treprostinil in Subjects With Pulmonary Hypertension Associated With Pulmonary Fibrosis