TRPS1

Summary

TRPS1 (transcriptional repressor GATA binding 1, HGNC:12340) is a protein-coding gene on chromosome 8q23.3, encoding Zinc finger transcription factor Trps1 (Q9UHF7). Transcriptional repressor. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III.

Source: NCBI Gene 7227 — RefSeq curated summary.

At a glance

• Gene–disease (curated): trichorhinophalangeal syndrome type I (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 104
• Clinical variants (ClinVar): 856 total — 140 pathogenic, 43 likely-pathogenic
• Phenotypes (HPO): 102
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 18 downstream targets (CollecTRI)
• MANE Select transcript: NM_014112

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12340
Approved symbol	TRPS1
Name	transcriptional repressor GATA binding 1
Location	8q23.3
Locus type	gene with protein product
Status	Approved
Aliases	LGCR, GC79
Ensembl gene	ENSG00000104447
Ensembl biotype	protein_coding
OMIM	604386
Entrez	7227

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 13 protein_coding

ENST00000220888, ENST00000395713, ENST00000395715, ENST00000422939, ENST00000451156, ENST00000517323, ENST00000518018, ENST00000519076, ENST00000519674, ENST00000519815, ENST00000520276, ENST00000640765, ENST00000917131

RefSeq mRNA: 4 — MANE Select: NM_014112 NM_001282902, NM_001282903, NM_001330599, NM_014112

CCDS: CCDS6318, CCDS64957, CCDS83316

Canonical transcript exons

ENST00000395715 — 7 exons

Exon	Start	End
ENSE00000702132	115603873	115605002
ENSE00001522588	115408496	115415084
ENSE00001522591	115668545	115668975
ENSE00001776286	115623601	115623758
ENSE00003447365	115418330	115418452
ENSE00003680245	115619132	115620060
ENSE00003790103	115587001	115587604

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2872 / max 325.6449, expressed in 1640 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94496	11.7101	1558
94494	1.8335	793
94495	1.6462	817
94490	1.3926	665
94491	0.9314	509
94498	0.8866	474
94493	0.7961	377
94499	0.7299	360
94487	0.2794	71
94501	0.0497	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mammary duct	UBERON:0001765	98.44	gold quality
epithelium of mammary gland	UBERON:0003244	98.40	gold quality
calcaneal tendon	UBERON:0003701	98.10	gold quality
tendon of biceps brachii	UBERON:0008188	97.35	gold quality
hair follicle	UBERON:0002073	96.94	gold quality
tibia	UBERON:0000979	96.46	gold quality
cartilage tissue	UBERON:0002418	96.45	gold quality
tendon	UBERON:0000043	96.39	gold quality
synovial joint	UBERON:0002217	96.30	gold quality
tongue squamous epithelium	UBERON:0006919	96.24	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.83	gold quality
gingival epithelium	UBERON:0001949	95.78	gold quality
nipple	UBERON:0002030	95.71	gold quality
gingiva	UBERON:0001828	95.69	gold quality
cauda epididymis	UBERON:0004360	95.12	gold quality
layer of synovial tissue	UBERON:0007616	94.47	gold quality
cervix squamous epithelium	UBERON:0006922	94.43	gold quality
squamous epithelium	UBERON:0006914	94.22	gold quality
mammary gland	UBERON:0001911	94.05	gold quality
thoracic mammary gland	UBERON:0005200	93.97	gold quality
esophagus squamous epithelium	UBERON:0006920	93.18	gold quality
globus pallidus	UBERON:0001875	92.54	gold quality
medial globus pallidus	UBERON:0002477	92.43	gold quality
buccal mucosa cell	CL:0002336	92.23	gold quality
epithelium of esophagus	UBERON:0001976	91.87	gold quality
medulla oblongata	UBERON:0001896	91.76	gold quality
lateral globus pallidus	UBERON:0002476	91.71	gold quality
inferior olivary complex	UBERON:0002127	91.62	gold quality
corpus callosum	UBERON:0002336	91.55	gold quality
cervix epithelium	UBERON:0004801	91.48	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	2366.04
E-HCAD-35	yes	84.07
E-HCAD-25	yes	24.33
E-MTAB-8060	no	41.73
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

18 targets.

Target	Regulation
ABCB1
BCL2	Unknown
BGLAP
CCND1	Unknown
DSPP
ERBB2
EXT1	Unknown
GDF5	Repression
GNAS
KLK3	Unknown
PECAM1
RUNX1	Repression
RUNX2	Repression
SOX9
STAT3	Unknown
TRPS1
VEGFA	Unknown
ZEB2	Repression

JASPAR motifs

Motif	Name	Family
MA1970.1	TRPS1	C4-GATA-related
MA1970.2	TRPS1	C4-GATA-related

JASPAR matrix evidence (PMIDs): PMID:29895970

Upstream regulators (CollecTRI, top): AR, ESR1, SNAI2, TRPS1

miRNA regulators (miRDB)

312 targeting TRPS1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Review: Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene (PMID:11773701)
• novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes (PMID:11950061)
• homologous domains from the TRPS-1 and Drosophila Hunchback proteins support homodimerization, but not heterodimerization with Ikaros (PMID:12620233)
• TRPS1 activity is regulated by RNF4 (PMID:12885770)
• Our results suggest a role of TRPS1 in androgen regulation of prostate-specfici antigen gene expression (PMID:14680804)
• TRPS-1 protein and gene were expressed in >90% of early- and late-stage breast cancer, including ductal carcinoma in situ and invasive ductal, lobular, and papillary carcinomas (PMID:16043716)
• We show here that TRPS1 is SUMOylated at multiple sites, both in vivo and in vitro, through interaction with UBC9. Overexpression of wild-type UBC9 enhances TRPS1-mediated transcriptional repression. (PMID:17391059)
• suggests a possible involvement of TRPS1 in oxidative stress, and possibly in apoptosis in androgen-independent DU145 prostate cancer cells (PMID:17467349)
• study reports a family affected by a mild form of trichorhinophalangeal syndrome type I; mutation analysis showed a missense mutation (R952C) in exon 7 of the TRPS1 gene (PMID:17854380)
• The results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in Ambras syndrome (a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears in humans). (PMID:18713754)
• results suggest a role for TRPS1 in tooth morphogenesis (PMID:18946009)
• study presents 2 new sporadic monoallelic mutations in two patients with clinical features compatible with different forms of tricho-rhino-phalangeal syndrome (PMID:19610100)
• Trichorhinophalangeal syndrome:report on a family where the father & 3 children have a novel out-of-frame indel, the largest intragenic indel reported to date & comment on intrafamilial consistency of the resulting TRPS type I phenotype (PMID:20177376)
• nonsense mutations result in premature stop codons in exon 4 or exon 5 and frame shifts from the point of deletion or two-to-one substitution also lead to premature stop codons downstream. (PMID:20394624)
• Mutation in TRPS1 is associated with tricho-rhino-pharangeal syndrome. (PMID:20635356)
• TRPS1 targeting by miR-221/222 promotes the epithelial-to-mesenchymal transition in breast cancer (PMID:21673316)
• TRPS-1 was also found to be expressed in a high proportion of ER(-) ductal epithelial breast cancers (PMID:21761336)
• we found critical differences in TRPS-1 expression in primary breast cancer (PMID:21761348)
• miR-221/222 targeting of trichorhinophalangeal 1 (TRPS1) promotes epithelial-to-mesenchymal transition in breast cancer. (PMID:21868360)
• TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability. (PMID:22127049)
• Genetic variation in TRPS1 may regulate hip geometry as well as bone mineral density (PMID:22306695)
• Mutations in the amino terminus of this transcription factor result in TRPS I syndrome. (PMID:22481165)
• Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient (PMID:23293878)
• we identified a mutation in the TRPS1 gene The same mutation was detected as a 10% mosaic mutation by Pyrosequencing in blood-derived DNA from his healthy mother. this is the first time that somatic mosaicism has been identified in TRPSI (PMID:23572024)
• TRPS-1 is an independent prognostic marker in early-stage breast cancer and a new epithelial-to-mesenchymal transition marker that can distinguish patients with estrogen receptor-positive breast cancer who will respond longer to adjuvant endocrine therapy (PMID:23729783)
• The increased expression of TRPS1 may be involved in the pathogenesis and progression of colon cancer. (PMID:23762846)
• we report the first familial balanced translocation [t(8;13)(q24.11;q21.31)] leading to trichorhinophalangeal syndrome I with a breakpoint 87 kb from the TRPS1 5’ end. (PMID:23835950)
• The strong expression of TRPS-1 may serve as a good prognostic marker in breast cancer. (PMID:24074613)
• association between SNP within TRPS1 and BMD (PMID:24416236)
• A role for Trps1 in the regulation of MDR1 expression in osteosarcoma. (PMID:24491996)
• TRPS1 promotes angiogenesis and affects VEGFA expression in breast cancer. (PMID:24595984)
• truncated protein from mutant allele may be stably expressed in patient’s hair follicles (PMID:24909213)
• TRPS1 gene expressionis associated with different epithelial mesenchymal transformation markers in ERalpha-positive and ERalpha-negative breast cancers. (PMID:24934762)
• Trps1 is required for odontoblast maturation by supporting expression of genes crucial for initiating the mineralization process. (PMID:25128529)
• TRPS1 haploinsufficiency results in STAT3 and SOX9 mRNA expression in Trichorhinophalangeal syndrome. (PMID:25136899)
• our study proposes that TRPS1 acts as a central hub in the control of cell cycle and proliferation during cancer development (PMID:25277197)
• Single nucleotide polymorphisms in TRPS1 gene is associated with Coronary Artery Disease. (PMID:25328121)
• Identification of a novel missense mutation c.2726G>A (p.C909Y) of the TRPS1 gene in a family with trichorhinophalangeal syndrome type I. (PMID:25333908)
• Missense mutations are located exclusively in exon 6 and 7 of TRPS1 in patients with tricho-rhino-phalangeal syndrome. (PMID:25792522)
• Trps1 is involved in non-anastomotic biliary structure pathogenesis following liver transplantation and negatively correlates with biliary epithelial cell epithelial-mesenchymal transition and biliary fibrosis in liver grafts. (PMID:25886207)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	trps1	ENSDARG00000104082
mus_musculus	Trps1	ENSMUSG00000038679
rattus_norvegicus	Trps1	ENSRNOG00000024998
drosophila_melanogaster	srp	FBGN0003507
drosophila_melanogaster	GATAd	FBGN0032223
caenorhabditis_elegans		WBGENE00001250
caenorhabditis_elegans		WBGENE00001252

Paralogs (7): GATA1 (ENSG00000102145), GATA3 (ENSG00000107485), GATA5 (ENSG00000130700), GATA4 (ENSG00000136574), GATA6 (ENSG00000141448), GATA2 (ENSG00000179348), ZGLP1 (ENSG00000220201)

Protein

Protein identifiers

Zinc finger transcription factor Trps1 — Q9UHF7 (reviewed: Q9UHF7)

Alternative names: Tricho-rhino-phalangeal syndrome type I protein, Zinc finger protein GC79

All UniProt accessions (9): Q9UHF7, A0A1D5RMP4, C9J6L7, E5RFF3, E5RJ97, E7EVN4, F8W8T0, H0YAV4, H0YC29

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes.

Subunit / interactions. Interacts with RNF4; regulates TRPS1 repressor activity. Interacts specifically with the activator form of GLI3 (GLI3A) but not with the repressor form (GLI3R).

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.

Post-translational modifications. Sumoylated. Sumoylation in the repressor domain inhibits the transcription repression activity. Sumoylation on Lys-1201 is the major site. Appears to be sumoylated on multiple sites.

Disease relevance. Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350] Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. The disease is caused by variants affecting the gene represented in this entry. Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230] A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and intellectual disability. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351] Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UHF7-1	1	yes
Q9UHF7-2	2
Q9UHF7-3	3

RefSeq proteins (4): NP_001269831, NP_001269832, NP_001317528, NP_054831* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000679	Znf_GATA	Domain
IPR013087	Znf_C2H2_type	Domain
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR028440	TRPS1	Family
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00320

UniProt features (82 total): cross-link 29, compositionally biased region 11, region of interest 10, modified residue 9, zinc finger region 8, sequence variant 8, splice variant 2, mutagenesis site 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHF7-F1	49.12	0.03

Functional residue map

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

Post-translational modifications (38): 90, 127, 178, 216, 751, 978, 1041, 1066, 1085, 29, 76, 263, 418, 457, 474, 488, 645, 737, 755, 766 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
1192	very little change in sumoylation and 30% reduction in repression activity. almost complete loss of sumoylation and 70%
1201	great loss of sumoylation and 30% reduction in repression activity. almost complete loss of sumoylation and 70% reductio

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 596 (showing top): TAATAAT_MIR126, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, TTTGTAG_MIR520D, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, FOXO4_01, CACCAGC_MIR138, AAAYRNCTG_UNKNOWN, TTGGGAG_MIR150, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, CATTTCA_MIR203, BLALOCK_ALZHEIMERS_DISEASE_UP, GROSS_HYPOXIA_VIA_ELK3_DN

GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal system development (GO:0001501), regulation of transcription by RNA polymerase II (GO:0006357), regulation of chondrocyte differentiation (GO:0032330), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (9): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein domain specific binding (GO:0019904), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
transcription cis-regulatory region binding	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
system development	1
chondrocyte differentiation	1
regulation of cell differentiation	1
regulation of cartilage development	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
negative regulation of RNA biosynthetic process	1
negative regulation of transcription by RNA polymerase II	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transcription regulator activity	1
transition metal ion binding	1
protein binding	1
nucleic acid binding	1
binding	1
DNA binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular_component	1

Protein interactions and networks

STRING

2285 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRPS1	EXT1	Q16394	931
TRPS1	CSMD3	Q7Z407	852
TRPS1	EIF3H	O15372	848
TRPS1	ANXA13	P27216	726
TRPS1	RUNX2	Q13950	657
TRPS1	DYNLL1	P63167	611
TRPS1	IHH	Q14623	579
TRPS1	ZFP64	Q9NTW7	556
TRPS1	ZKSCAN7	Q9P0L1	555
TRPS1	RNF4	P78317	540
TRPS1	RUNX3	Q13761	517
TRPS1	JUN	P05412	507
TRPS1	HDAC4	P56524	495
TRPS1	EXT2	Q93063	491
TRPS1	NOG	Q13253	480

IntAct

121 interactions, top by confidence:

A	B	Type	Score
MCM6	MCM3	psi-mi:“MI:0914”(association)	0.810
CTBP1	ZEB2	psi-mi:“MI:0914”(association)	0.800
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
ESR1	PGR	psi-mi:“MI:0915”(physical association)	0.770
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CTBP1	CBX4	psi-mi:“MI:0914”(association)	0.700
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
ORF	EIF3F	psi-mi:“MI:0914”(association)	0.560
TRPS1	ORF	psi-mi:“MI:0915”(physical association)	0.560
CDK18	UBL4A	psi-mi:“MI:0914”(association)	0.530
UXT	POLR3A	psi-mi:“MI:0914”(association)	0.530
TRPS1	MTA2	psi-mi:“MI:0914”(association)	0.530
NLK	FAM222B	psi-mi:“MI:0914”(association)	0.530
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
MAD2L1	PPIP5K2	psi-mi:“MI:0914”(association)	0.530
RNF4	TRPS1	psi-mi:“MI:0915”(physical association)	0.520
EN1	NFIB	psi-mi:“MI:2364”(proximity)	0.470
C4A	ESR1	psi-mi:“MI:0915”(physical association)	0.400
TRPS1	PLEC	psi-mi:“MI:0915”(physical association)	0.400
Dynll1		psi-mi:“MI:0915”(physical association)	0.400

BioGRID (182): TRPS1 (Biochemical Activity), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IYX6, A0A1L8H0H2, A5X7A0, A7XYJ6, E1BE02, F6NSX9, F8VPJ6, O35914, O57415, P37275, P59598, P59759, Q03172, Q13029, Q2KHR2, Q3UH06, Q5EXX3, Q5R7F2, Q5ZIE8, Q5ZLR2, Q62947, Q63755, Q64318, Q6NRM0, Q6ZPY7, Q76L83, Q7LBC6, Q7YR76, Q80VX4, Q86V15, Q8BHZ4, Q8BLG0, Q8BRH4, Q8BX22, Q8BZ32, Q8C0C0, Q8IZQ8, Q8NEZ4, Q8R5I7, Q8VIM5

Diamond homologs: A0JPB4, A2VDW9, A4IFJ6, H2L008, O08900, O13089, O42410, O62537, O62538, O62541, O96785, P05084, P13361, P81183, Q01778, Q01791, Q03267, Q13422, Q25514, Q5R9W9, Q5ZLR2, Q6DBW0, Q6NRM0, Q6XDT4, Q6XDT6, Q8BU00, Q8C208, Q90ZS6, Q925H1, Q9H2S9, Q9H5V7, Q9UHF7, Q9UKS7, Q9UKT9, B4XXY3, B7WN96, B8AX51, D4B3J8, G5EB20, G5EGF4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TRPS1	“down-regulates quantity by repression”	GDF5	“transcriptional regulation”
GDF5	“up-regulates activity”	TRPS1	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 147 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
RNA Polymerase III Transcription Termination	5	23.2×	1e-04
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	6	21.4×	2e-05
Deactivation of the beta-catenin transactivating complex	9	19.6×	2e-07
Regulation of PTEN gene transcription	10	16.7×	2e-07
Gastrulation	6	14.6×	2e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	10	13.7×	4e-07
RNA Polymerase III Abortive And Retractive Initiation	5	13.0×	1e-03
PTEN Regulation	6	12.8×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	6	34.8×	2e-06
negative regulation of miRNA transcription	6	28.4×	6e-06
neuron fate specification	5	26.6×	8e-05
positive regulation of miRNA transcription	9	19.8×	1e-07
cell fate commitment	6	13.4×	3e-04
cartilage development	7	13.3×	8e-05
thymus development	5	12.8×	2e-03
inner ear morphogenesis	5	11.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	140
Likely pathogenic	43
Uncertain significance	367
Likely benign	178
Benign	49

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069269	NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter)	Pathogenic
1069769	NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)	Pathogenic
1069963	NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs)	Pathogenic
1070473	NM_014112.5(TRPS1):c.1911del (p.Asp638fs)	Pathogenic
1074212	NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs)	Pathogenic
1075041	NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter)	Pathogenic
1076208	NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer)	Pathogenic
1187428	NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)	Pathogenic
1299557	NM_014112.5(TRPS1):c.2090dup (p.His697fs)	Pathogenic
1328181	NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter)	Pathogenic
1345055	NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)	Pathogenic
1362155	NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter)	Pathogenic
1364143	NM_014112.5(TRPS1):c.1402del (p.Tyr468fs)	Pathogenic
1366100	NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter)	Pathogenic
1381794	NM_014112.5(TRPS1):c.3248del (p.Lys1083fs)	Pathogenic
1396687	NM_014112.5(TRPS1):c.2829del (p.Arg944fs)	Pathogenic
1427092	NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter)	Pathogenic
1451506	NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter)	Pathogenic
1451536	NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs)	Pathogenic
1452663	NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs)	Pathogenic
1456376	NC_000008.10:g.(?116599208)(116635864_?)dup	Pathogenic
1456401	NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter)	Pathogenic
1457916	NM_014112.5(TRPS1):c.596del (p.Asn199fs)	Pathogenic
1458518	NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)	Pathogenic
1458851	NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs)	Pathogenic
1459463	NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)	Pathogenic
1460308	NC_000008.10:g.(?116635808)(116635864_?)del	Pathogenic
1527921	NM_014112.5(TRPS1):c.1505del (p.Ser502fs)	Pathogenic
1676109	NM_014112.5(TRPS1):c.1163C>G (p.Ser388Ter)	Pathogenic
1699124	NM_014112.5(TRPS1):c.2726G>A (p.Cys909Tyr)	Pathogenic

SpliceAI

3449 predictions. Top by Δscore:

Variant	Effect	Δscore
8:115418325:CTTA:C	donor_loss	1.0000
8:115418326:TTAC:T	donor_loss	1.0000
8:115418327:TACCG:T	donor_loss	1.0000
8:115418328:A:AC	donor_gain	1.0000
8:115418328:A:C	donor_loss	1.0000
8:115418329:C:CA	donor_loss	1.0000
8:115418329:C:CC	donor_gain	1.0000
8:115418448:CGCCT:C	acceptor_gain	1.0000
8:115418449:GCCT:G	acceptor_gain	1.0000
8:115418450:CCTC:C	acceptor_gain	1.0000
8:115418451:CT:C	acceptor_gain	1.0000
8:115418453:C:CA	acceptor_loss	1.0000
8:115418453:C:CC	acceptor_gain	1.0000
8:115418459:C:CT	acceptor_gain	1.0000
8:115418460:A:T	acceptor_gain	1.0000
8:115587600:CTCTC:C	acceptor_gain	1.0000
8:115587602:CTC:C	acceptor_gain	1.0000
8:115587603:TC:T	acceptor_gain	1.0000
8:115587604:CC:C	acceptor_gain	1.0000
8:115587604:CCTG:C	acceptor_loss	1.0000
8:115587605:C:CC	acceptor_gain	1.0000
8:115587605:CTG:C	acceptor_loss	1.0000
8:115591563:C:CA	donor_gain	1.0000
8:115668539:CCTTA:C	donor_loss	1.0000
8:115668540:CTTA:C	donor_loss	1.0000
8:115668541:TTAC:T	donor_loss	1.0000
8:115668542:TA:T	donor_loss	1.0000
8:115668543:ACCTG:A	donor_loss	1.0000
8:115668544:C:CT	donor_loss	1.0000
8:115415098:A:C	acceptor_gain	0.9900

AlphaMissense

8574 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:115414127:A:G	C1248R	1.000
8:115414134:G:C	C1245W	1.000
8:115414136:A:G	C1245R	1.000
8:115414211:A:G	C1220R	1.000
8:115414220:A:G	C1217R	1.000
8:115414541:A:G	W1110R	1.000
8:115414541:A:T	W1110R	1.000
8:115415019:T:A	R950S	1.000
8:115415019:T:G	R950S	1.000
8:115415020:C:G	R950T	1.000
8:115415025:T:A	R948S	1.000
8:115415025:T:G	R948S	1.000
8:115415026:C:A	R948I	1.000
8:115415026:C:G	R948T	1.000
8:115415028:C:A	R947S	1.000
8:115415028:C:G	R947S	1.000
8:115415029:C:A	R947M	1.000
8:115415031:C:A	R946S	1.000
8:115415031:C:G	R946S	1.000
8:115415032:C:A	R946M	1.000
8:115415032:C:G	R946T	1.000
8:115415035:A:C	I945S	1.000
8:115415035:A:G	I945T	1.000
8:115415035:A:T	I945N	1.000
8:115415062:A:T	I936N	1.000
8:115415065:A:C	I935S	1.000
8:115415065:A:T	I935N	1.000
8:115415074:G:T	P932H	1.000
8:115415075:G:A	P932S	1.000
8:115415076:C:A	R931S	1.000

dbSNP variants (sampled 300 via entrez): RS1000009176 (8:115557165 A>C), RS1000011551 (8:115419451 T>G), RS1000014077 (8:115478817 ATATATATG>A,ATATATATGTATATATG), RS1000025508 (8:115523640 T>C), RS1000044756 (8:115516855 C>A), RS1000045036 (8:115463249 C>T), RS1000050249 (8:115444121 T>G), RS1000075526 (8:115471513 G>A), RS1000097336 (8:115550724 C>T), RS1000108124 (8:115648098 G>T), RS1000124147 (8:115669224 C>T), RS1000124178 (8:115539121 T>C), RS1000165956 (8:115529901 G>A), RS1000168234 (8:115537710 C>A), RS1000169999 (8:115630799 C>G,T)

Disease associations

OMIM: gene MIM:604386 | disease phenotypes: MIM:190350, MIM:150230, MIM:123100, MIM:610805

GenCC curated gene-disease

Disease	Classification	Inheritance
trichorhinophalangeal syndrome type I	Definitive	Autosomal dominant
trichorhinophalangeal syndrome, type III	Strong	Autosomal dominant
trichorhinophalangeal syndrome type I or III	Supportive	Autosomal dominant

Mondo (12): trichorhinophalangeal syndrome type I (MONDO:0008596), trichorhinophalangeal syndrome (MONDO:0017951), trichorhinophalangeal syndrome type II (MONDO:0007874), mitral valve prolapse (MONDO:0004910), craniosynostosis (MONDO:0015469), alopecia areata (MONDO:0005340), brachydactyly (MONDO:0021004), metaphyseal chondrodysplasia (MONDO:0000138), congenital anomaly of kidney and urinary tract (MONDO:0019719), microcephaly (MONDO:0001149), (MONDO:0008597), (MONDO:0019176)

Orphanet (5): Trichorhinophalangeal syndrome type 1 (Orphanet:77258), Trichorhinophalangeal syndrome (Orphanet:324764), Trichorhinophalangeal syndrome type 2 (Orphanet:502), Craniosynostosis (Orphanet:1531), Renal or urinary tract malformation (Orphanet:93545)

HPO phenotypes

102 total (30 of 102 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000076	Vesicoureteral reflux
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000189	Narrow palate
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000319	Smooth philtrum
HP:0000325	Triangular face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000400	Macrotia
HP:0000405	Conductive hearing impairment
HP:0000411	Protruding ear
HP:0000414	Bulbous nose
HP:0000430	Underdeveloped nasal alae
HP:0000431	Wide nasal bridge
HP:0000447	Pear-shaped nose
HP:0000574	Thick eyebrow
HP:0000653	Sparse eyelashes
HP:0000670	Carious teeth
HP:0000678	Dental crowding
HP:0000684	Delayed eruption of teeth
HP:0000689	Dental malocclusion
HP:0000691	Microdontia
HP:0000768	Pectus carinatum
HP:0000938	Osteopenia

GWAS associations

104 associations (top):

Study	Trait	p-value
GCST000755_44	HDL cholesterol	6.000000e-11
GCST000760_29	Cholesterol, total	2.000000e-08
GCST001469_3	Major depressive disorder	8.000000e-06
GCST001588_4	Periodontal microbiota	2.000000e-06
GCST001644_5	Eating disorders	7.000000e-06
GCST002037_12	Post-traumatic stress disorder (asjusted for relatedness)	4.000000e-06
GCST002037_15	Post-traumatic stress disorder (asjusted for relatedness)	2.000000e-06
GCST002104_22	Bronchopulmonary dysplasia	6.000000e-06
GCST002223_59	HDL cholesterol	4.000000e-17
GCST002826_13	Urate levels (BMI interaction)	7.000000e-07
GCST003123_20	Severe influenza A (H1N1) infection	6.000000e-11
GCST003542_164	Night sleep phenotypes	7.000000e-06
GCST003652_2	Parkinson’s disease (familial, age at onset)	3.000000e-06
GCST003655_13	Cutaneous squamous cell carcinoma	1.000000e-06
GCST003901_2	Cognitive decline (age-related)	3.000000e-07
GCST004232_23	HDL cholesterol levels	5.000000e-19
GCST004601_108	Red blood cell count	1.000000e-13
GCST004604_128	Hematocrit	6.000000e-14
GCST004608_107	Granulocyte percentage of myeloid white cells	6.000000e-22
GCST004609_47	Monocyte percentage of white cells	3.000000e-25
GCST004611_38	High light scatter reticulocyte count	1.000000e-21
GCST004612_46	High light scatter reticulocyte percentage of red cells	3.000000e-24
GCST004615_57	Hemoglobin concentration	3.000000e-12
GCST004619_139	Reticulocyte fraction of red cells	3.000000e-14
GCST004622_18	Reticulocyte count	7.000000e-11
GCST004625_160	Monocyte count	2.000000e-24
GCST004628_100	Immature fraction of reticulocytes	9.000000e-24
GCST005212_10	Asthma	2.000000e-06
GCST005830_90	Hand grip strength	2.000000e-13
GCST005897_36	Low tan response	4.000000e-25

EFO canonical traits (35, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0004340	body mass index
EFO:0004531	urate measurement
EFO:1001488	influenza A (H1N1)
EFO:0004847	age at onset
EFO:1001927	cutaneous squamous cell carcinoma
EFO:0004305	erythrocyte count
EFO:0004348	hematocrit
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0007986	reticulocyte count
EFO:0004509	hemoglobin measurement
EFO:0005091	monocyte count
EFO:0006941	grip strength measurement
EFO:0004279	suntan
EFO:0004309	platelet count
EFO:0009270	heel bone mineral density
EFO:0009959	diverticular disease
EFO:0008328	chronotype measurement
EFO:0004458	C-reactive protein measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004329	alcohol drinking
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0010176	keratinocyte carcinoma
EFO:0010454	adenosine monophosphate measurement
EFO:0008451	activities of daily living score measurement
EFO:0000195	metabolic syndrome
EFO:0004614	apolipoprotein A 1 measurement

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D000506	Alopecia Areata	C17.800.329.937.122.147
D059327	Brachydactyly	C05.660.585.262; C16.131.621.585.262
D003398	Craniosynostoses	C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364
D015826	Langer-Giedion Syndrome	C05.116.099.708.582
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D008945	Mitral Valve Prolapse	C14.280.484.400.500
C566906	Cakut (supp.)
C536820	Trichorhinophalangeal Syndrome, Type I (supp.)
C566033	Trichorhinophalangeal Syndrome, Type III (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	7
Benzo(a)pyrene	decreases expression, increases expression, increases methylation, affects methylation	4
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	affects methylation, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
methylmercuric chloride	increases expression	1
bisphenol A	increases expression	1
geraniol	increases expression	1
arsenite	affects binding, decreases reaction	1
sulforaphane	increases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Amphotericin B	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	decreases expression	1
Formaldehyde	decreases expression	1
Nickel	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1661	ZR-75-30	Cancer cell line	Female
CVCL_A2WE	GM26184	Finite cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00722436	PHASE4	TERMINATED	Tranexamic Acid for Craniofacial Surgery
NCT02188576	PHASE4	COMPLETED	The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
NCT00176943	PHASE4	COMPLETED	Characteristics of T Cells From Alopecia Areata Scalp Skin Before and After Treatment With Aldara 5%
NCT00176969	PHASE4	COMPLETED	Response of Topical Capsaicin in Alopecia Areata
NCT00176982	PHASE4	COMPLETED	Plaquenil for Alopecia Areata, Alopecia Totalis
NCT00177021	PHASE4	COMPLETED	Aldara for the Treatment of Extensive Alopecia Areata
NCT01023841	PHASE4	COMPLETED	Safety and Efficacy of Bimatoprost Solution in Treating Eyelash Loss or Hypotrichosis in Children
NCT01898806	PHASE4	TERMINATED	Intralesional Steroids in the Treatment of Alopecia Areata
NCT02350023	PHASE4	COMPLETED	Comparison of Topical Latanoprost vs Topical Corticosteroid in Treatment of Localized Alopecia Areata
NCT03473600	PHASE4	UNKNOWN	Cryotherapy Versus Steroids In Alopecia Areata:Trichoscopic Evaluation
NCT03535233	PHASE4	COMPLETED	Topical 5% Minoxidil and Potent Topical Corticosteroid Versus Intralesional Corticosteroid in the Treatment of Alopecia Areata
NCT03630198	PHASE4	COMPLETED	Pain Outcomes Following Intralesional Corticosteroid Injections
NCT03800979	PHASE4	COMPLETED	Effectiveness and Safety of Tofacitinib in Patients With Extensive and Recalcitrant Alopecia Areata
NCT04003376	PHASE4	UNKNOWN	Efficacy of Fractional CO2 Laser as a Mono- or Adjuvant Therapy for Alopecia Areata
NCT04228029	PHASE4	UNKNOWN	Comparative Study for Treatment of Alopecia Areata Using Carboxytherapy and Intralesional Steroids
NCT04412148	PHASE4	UNKNOWN	Modified SALT Score for Alopecia Areata
NCT04793945	PHASE4	UNKNOWN	Excimer Light and Topical Steroid in Treatment of Alopecia Areata
NCT05278858	PHASE4	TERMINATED	Needle-free Delivery of Intralesional Triamcinolone for Pediatric Alopecia Areata
NCT05926882	PHASE4	COMPLETED	Efficacy of Oral Apremilast in the Treatment of Alopecia Areata at the Tertiary Care Hospital, Karachi.
NCT06399783	PHASE4	NOT_YET_RECRUITING	Topical Simvastatin Versus Topical Steroid in Treatment of Alopecia Areata
NCT07174011	PHASE4	COMPLETED	Evaluation of the Efficacy and Safety of Oral Roflumilast Versus Intralesional Corticosteroids Injection (ILCs) in the Treatment of Alopecia Areata
NCT07381556	PHASE4	RECRUITING	Cyclosporine Or Methotrexate for Pediatric Alopecia Areata: Routine Clinical Care Effectiveness Study
NCT07406204	PHASE4	NOT_YET_RECRUITING	Tofacitinib vs Methotrexate for Severe Alopecia Areata (TOFA-MTX-AA)
NCT07453238	PHASE4	NOT_YET_RECRUITING	Comparison of Topical Calcipotriol and Intralesional Steroids in Alopecia Areata
NCT07459933	PHASE4	NOT_YET_RECRUITING	Topical Methotrexate vs Minoxidil for Localized Alopecia Areata
NCT05631730	PHASE3	RECRUITING	Effect and Safety of Flecainide and Metoprolol Versus Metoprolol Alone to Suppress Ventricular Arrhythmias in Arrhythmic Mitral Valve Prolapse
NCT01453686	PHASE3	COMPLETED	A Trial of Clobetasol Propionate Versus Hydrocortisone in Children With Alopecia Areata
NCT02037191	PHASE3	COMPLETED	The Efficiency Of The Methotrexate At Patients Affected By Grave Pelade
NCT02557074	PHASE3	COMPLETED	TREg Activation in the Treatment of the PELADE (Alopecia Areata)
NCT02691117	PHASE3	TERMINATED	Topical Garlic Concentrate for Alopecia Areata in Children
NCT03651752	PHASE3	TERMINATED	DPCP for the Treatment of Alopecia Areata
NCT03899259	PHASE3	COMPLETED	A Study of Baricitinib (LY3009104) in Adults With Severe or Very Severe Alopecia Areata
NCT04006457	PHASE3	COMPLETED	Long-Term PF-06651600 for the Treatment of Alopecia Areata
NCT04518995	PHASE3	COMPLETED	Study to Evaluate the Efficacy and Safety of CTP-543 in Adults With Moderate to Severe Alopecia Areata (THRIVE-AA1)
NCT04797650	PHASE3	COMPLETED	Study to Evaluate the Efficacy and Safety of CTP-543 in Adults With Moderate to Severe Alopecia Areata (THRIVE-AA2)
NCT05041803	PHASE3	COMPLETED	European Extension Study to Evaluate Safety and Efficacy of CTP-543 in Adults With Alopecia Areata
NCT05051761	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of Jaktinib in Adults With Alopecia Areata
NCT05255237	PHASE3	COMPLETED	Extension Study to Evaluate Safety and Efficacy of Jaktinib in Adults With Alopecia Areata
NCT05470413	PHASE3	UNKNOWN	Evaluate the Efficacy and Safety of SHR0302 in Adult Patients With Severe Alopecia Areata
NCT06012240	PHASE3	RECRUITING	A Study to Evaluate the Safety and Effectiveness of Upadacitinib Tablets in Adult and Adolescent Participants With Severe Alopecia Areata