EML3

Summary

EML3 (EMAP like 3, HGNC:26666) is a protein-coding gene on chromosome 11q12.3, encoding Echinoderm microtubule-associated protein-like 3 (Q32P44). Regulates mitotic spindle assembly, microtubule (MT)-kinetochore attachment and chromosome separation via recruitment of HAUS augmin-like complex and TUBG1 to the existing MTs and promoting MT-based MT nucleation.

Predicted to enable microtubule binding activity. Involved in mitotic metaphase chromosome alignment and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus.

Source: NCBI Gene 256364 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 139 total
• MANE Select transcript: NM_153265

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26666
Approved symbol	EML3
Name	EMAP like 3
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35827, ELP95
Ensembl gene	ENSG00000149499
Ensembl biotype	protein_coding
OMIM	618118
Entrez	256364

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 33 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000278845, ENST00000394773, ENST00000394776, ENST00000419857, ENST00000438258, ENST00000439994, ENST00000460939, ENST00000462626, ENST00000466671, ENST00000466886, ENST00000483199, ENST00000494176, ENST00000494448, ENST00000524518, ENST00000526116, ENST00000529309, ENST00000531557, ENST00000533165, ENST00000859376, ENST00000859377, ENST00000859378, ENST00000859379, ENST00000859380, ENST00000859381, ENST00000859382, ENST00000859383, ENST00000859384, ENST00000859385, ENST00000859386, ENST00000859387, ENST00000859388, ENST00000859389, ENST00000859390, ENST00000859391, ENST00000929848, ENST00000929849, ENST00000964791, ENST00000964792, ENST00000964793, ENST00000964794, ENST00000964795

RefSeq mRNA: 4 — MANE Select: NM_153265 NM_001300793, NM_001300794, NM_001411016, NM_153265

CCDS: CCDS76415, CCDS8023, CCDS91491

Canonical transcript exons

ENST00000394773 — 22 exons

Exon	Start	End
ENSE00001284571	62610879	62610992
ENSE00001519524	62611087	62611344
ENSE00001519525	62612436	62612775
ENSE00001930362	62602218	62602678
ENSE00003467101	62602759	62602889
ENSE00003475501	62603729	62603816
ENSE00003476932	62608962	62609132
ENSE00003485297	62609629	62609696
ENSE00003500127	62603149	62603247
ENSE00003501007	62603944	62604041
ENSE00003503788	62608736	62608805
ENSE00003533485	62606063	62606214
ENSE00003539190	62609354	62609477
ENSE00003539530	62611425	62611596
ENSE00003577911	62604113	62604201
ENSE00003600746	62606958	62607099
ENSE00003613848	62608542	62608652
ENSE00003675103	62607666	62607821
ENSE00003678124	62605642	62605773
ENSE00003682949	62605855	62605980
ENSE00003684721	62608201	62608296
ENSE00003685318	62605113	62605180

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9783 / max 193.3725, expressed in 1808 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120165	13.9186	1791
120163	1.5752	855
120162	1.3633	778
120164	1.1212	665

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.18	gold quality
nerve	UBERON:0001021	98.17	gold quality
tibial nerve	UBERON:0001323	98.17	gold quality
right ovary	UBERON:0002118	98.09	gold quality
granulocyte	CL:0000094	97.98	gold quality
left uterine tube	UBERON:0001303	97.77	gold quality
endocervix	UBERON:0000458	97.73	gold quality
ectocervix	UBERON:0012249	97.68	gold quality
mucosa of stomach	UBERON:0001199	97.64	gold quality
left ovary	UBERON:0002119	97.61	gold quality
descending thoracic aorta	UBERON:0002345	97.46	gold quality
right lobe of thyroid gland	UBERON:0001119	97.33	gold quality
ascending aorta	UBERON:0001496	97.25	gold quality
body of uterus	UBERON:0009853	97.25	gold quality
omental fat pad	UBERON:0010414	97.25	gold quality
thoracic aorta	UBERON:0001515	97.22	gold quality
peritoneum	UBERON:0002358	97.17	gold quality
metanephros cortex	UBERON:0010533	97.09	gold quality
upper lobe of left lung	UBERON:0008952	96.96	gold quality
right lung	UBERON:0002167	96.95	gold quality
left lobe of thyroid gland	UBERON:0001120	96.91	gold quality
right coronary artery	UBERON:0001625	96.83	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.74	gold quality
spleen	UBERON:0002106	96.72	gold quality
skin of leg	UBERON:0001511	96.54	gold quality
right uterine tube	UBERON:0001302	96.38	gold quality
skin of abdomen	UBERON:0001416	96.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.29	gold quality
right lobe of liver	UBERON:0001114	96.28	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.27	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting EML3, 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-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-4749-3P	96.40	66.24	798
HSA-MIR-10392-3P	88.79	61.83	122

Literature-anchored findings (GeneRIF, showing 2)

• Functional analysis of EML3 demonstrates an important role for EML3 in correct metaphase chromosome alignment. (PMID:18445686)
• results indicate that EML3 regulates mitotic spindle assembly and the kinetochore-MT connection by regulating MT-based MT nucleation and recruiting Augmin/gamma-TuRC to MTs. (PMID:30723163)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	eml3	ENSDARG00000058038
mus_musculus	Eml3	ENSMUSG00000071647
rattus_norvegicus	B3gat3	ENSRNOG00000019873

Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530), EML6 (ENSG00000214595)

Protein

Protein identifiers

Echinoderm microtubule-associated protein-like 3 — Q32P44 (reviewed: Q32P44)

All UniProt accessions (9): Q32P44, B7WPE2, C9J6V3, E9PJV5, E9PSB4, G3V195, G3V1D0, H0Y3M3, H7C355

UniProt curated annotations — full annotation on UniProt →

Function. Regulates mitotic spindle assembly, microtubule (MT)-kinetochore attachment and chromosome separation via recruitment of HAUS augmin-like complex and TUBG1 to the existing MTs and promoting MT-based MT nucleation. Required for proper alignnment of chromosomes during metaphase.

Subunit / interactions. Homotrimer; self-association is mediated by the N-terminal coiled coil. Interacts with EML2 but not with EML1. Interacts (phosphorylated at Thr-881) with TUBG1, HAUS1, HAUS2, HAUS3, HAUS4, HAUS5, HAUS6, HAUS7 and HAUS8.

Subcellular location. Cytoplasm. Cytoskeleton. Nucleus. Midbody. Spindle.

Post-translational modifications. Phosphorylation at Thr-881 during mitosis is required for interaction with TUBG1, HAUS1, HAUS2, HAUS3, HAUS4, HAUS5, HAUS6, HAUS7 and HAUS8 and their recruitment to spindle microtubules.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the WD repeat EMAP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q32P44-1	1	yes
Q32P44-2	2
Q32P44-3	3

RefSeq proteins (4): NP_001287722, NP_001287723, NP_001397945, NP_694997* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR005108	HELP	Conserved_site
IPR011047	Quinoprotein_ADH-like_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR050630	WD_repeat_EMAP	Family
IPR055439	Beta-prop_EML_1st	Domain
IPR055442	Beta-prop_EML-like_2nd	Domain

Pfam: PF03451, PF23409, PF23414

UniProt features (39 total): repeat 13, modified residue 6, compositionally biased region 5, splice variant 4, mutagenesis site 3, region of interest 2, sequence variant 2, sequence conflict 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q32P44-F1	80.62	0.66

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 (6): 1, 176, 198, 204, 881, 883

Mutagenesis-validated functional residues (3):

Position	Phenotype
881	loss of phosphorylation and impaired interaction with tubg1, haus2, haus3, haus4, haus5, haus6, haus7 and haus8.
883	no loss of phosphorylation.
889	no loss of phosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 222 (showing top): MORF_RAGE, GOBP_CHROMOSOME_ORGANIZATION, WANG_CLIM2_TARGETS_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, LFA1_Q6, SP3_Q3, GOBP_CHROMOSOME_LOCALIZATION, AREB6_01, AP2_Q3, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_MITOTIC_SPINDLE_ASSEMBLY, AP1_Q4_01, ONKEN_UVEAL_MELANOMA_UP, GOBP_ORGANELLE_FISSION

GO Biological Process (4): microtubule cytoskeleton organization (GO:0000226), mitotic metaphase chromosome alignment (GO:0007080), cell division (GO:0051301), regulation of mitotic spindle assembly (GO:1901673)

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (10): nucleus (GO:0005634), cytoplasm (GO:0005737), spindle (GO:0005819), spindle microtubule (GO:0005876), microtubule cytoskeleton (GO:0015630), midbody (GO:0030496), mitotic spindle microtubule (GO:1990498), cytoskeleton (GO:0005856), microtubule (GO:0005874), mitotic spindle (GO:0072686)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
microtubule cytoskeleton	2
intracellular membraneless organelle	2
spindle	2
cytoskeleton organization	1
microtubule-based process	1
mitotic sister chromatid segregation	1
mitotic cell cycle	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
cellular process	1
regulation of mitotic spindle organization	1
regulation of spindle assembly	1
mitotic spindle assembly	1
tubulin binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
microtubule	1
cytoskeleton	1
spindle microtubule	1
mitotic spindle	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

2174 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EML3	ZNF354A	O60765	509
EML3	MORC3	Q14149	461
EML3	CCDC124	Q96CT7	459
EML3	REXO1	Q8N1G1	430
EML3	SPICE1	Q8N0Z3	425
EML3	DNMT3A	Q9Y6K1	409
EML3	RASAL3	Q86YV0	383
EML3	LRRN4CL	Q8ND94	377
EML3	ADCK5	Q3MIX3	366
EML3	MAP4	P27816	361
EML3	LAS1L	Q9Y4W2	360
EML3	FAM174C	Q9BVV8	353
EML3	KIAA1614	Q5VZ46	351
EML3	GAS2L3	Q86XJ1	349
EML3	SNAPC4	Q5SXM2	346

IntAct

73 interactions, top by confidence:

A	B	Type	Score
YWHAG	EML3	psi-mi:“MI:0915”(physical association)	0.760
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
YWHAH	FAM83G	psi-mi:“MI:0914”(association)	0.710
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
SKP1	MYCBP2	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
EML3	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	EML3	psi-mi:“MI:0915”(physical association)	0.560
NEK6	DYNLL1	psi-mi:“MI:0914”(association)	0.560
ORF	EIF3F	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
ZAR1L	BCL2L11	psi-mi:“MI:0914”(association)	0.530
EML3	YWHAZ	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
NEK7	EML3	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
Dynll1		psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
Nek9	EML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (79): EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-Western), EML3 (Affinity Capture-Western), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-MS), EML3 (Affinity Capture-Western)

ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7

Diamond homologs: O00423, O95834, Q05BC3, Q05BV3, Q26613, Q2TAF3, Q32P44, Q3UMY5, Q4V8C3, Q5SQM0, Q6DIP5, Q6ED65, Q6P6T4, Q6ZMW3, Q7TNG5, Q8BQM8, Q8VC03, Q9HC35, Q9N9X3, Q9VUI3, Q9Y1C1, B3MC74, B4JW81, B4KTK4, B4LJT7, B4MY77, P29829, Q9NFZ1, B6K1G6, O48847, Q15542, Q8C092, O22212, O45487, O75083, O88342, O93277, Q2KJH4, Q5RKI0, A8PWQ8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	87.6×	2e-08
Activation of BAD and translocation to mitochondria	5	82.8×	2e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	73.0×	2e-07
Activation of BH3-only proteins	6	64.8×	6e-08
Intrinsic Pathway for Apoptosis	6	38.2×	4e-07
FOXO-mediated transcription	5	36.5×	6e-06
RHO GTPases activate PKNs	5	34.5×	6e-06
Aggrephagy	5	27.0×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
memory	5	14.1×	4e-03
microtubule cytoskeleton organization	6	11.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	112
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4383 predictions. Top by Δscore:

Variant	Effect	Δscore
11:62602685:C:CT	acceptor_gain	1.0000
11:62602685:C:T	acceptor_gain	1.0000
11:62602686:G:T	acceptor_gain	1.0000
11:62602755:TCAC:T	donor_loss	1.0000
11:62602756:CA:C	donor_loss	1.0000
11:62602758:C:CT	donor_loss	1.0000
11:62602830:CGT:C	acceptor_gain	1.0000
11:62602832:T:TC	acceptor_gain	1.0000
11:62603139:C:A	donor_gain	1.0000
11:62603246:CC:C	acceptor_gain	1.0000
11:62603246:CCCTG:C	acceptor_loss	1.0000
11:62603247:CC:C	acceptor_gain	1.0000
11:62603248:C:CA	acceptor_loss	1.0000
11:62603248:C:CC	acceptor_gain	1.0000
11:62603727:A:AC	donor_gain	1.0000
11:62603728:C:CC	donor_gain	1.0000
11:62603815:CC:C	acceptor_gain	1.0000
11:62603816:CC:C	acceptor_gain	1.0000
11:62603937:T:TA	donor_gain	1.0000
11:62603939:CTCAC:C	donor_loss	1.0000
11:62603940:TCAC:T	donor_loss	1.0000
11:62603943:C:T	donor_loss	1.0000
11:62603943:CCATA:C	donor_gain	1.0000
11:62605862:A:AC	donor_gain	1.0000
11:62605863:C:CC	donor_gain	1.0000
11:62605890:C:A	donor_gain	1.0000
11:62607055:C:CT	acceptor_gain	1.0000
11:62607055:C:T	acceptor_gain	1.0000
11:62607056:G:T	acceptor_gain	1.0000
11:62607676:C:CA	donor_gain	1.0000

AlphaMissense

5763 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62602567:A:G	W867R	1.000
11:62602567:A:T	W867R	1.000
11:62602625:G:C	F847L	1.000
11:62602625:G:T	F847L	1.000
11:62602626:A:G	F847S	1.000
11:62602627:A:G	F847L	1.000
11:62602804:G:C	D814E	1.000
11:62602804:G:T	D814E	1.000
11:62602805:T:A	D814V	1.000
11:62602805:T:C	D814G	1.000
11:62602805:T:G	D814A	1.000
11:62602806:C:A	D814Y	1.000
11:62602806:C:G	D814H	1.000
11:62602808:T:A	D813V	1.000
11:62602809:C:G	D813H	1.000
11:62602859:T:A	D796V	1.000
11:62602862:G:A	T795I	1.000
11:62602865:C:T	G794E	1.000
11:62602866:C:A	G794W	1.000
11:62602866:C:G	G794R	1.000
11:62602866:C:T	G794R	1.000
11:62602868:T:A	D793V	1.000
11:62602882:C:A	W788C	1.000
11:62602882:C:G	W788C	1.000
11:62602884:A:G	W788R	1.000
11:62602884:A:T	W788R	1.000
11:62603171:A:C	C778W	1.000
11:62603186:C:A	W773C	1.000
11:62603186:C:G	W773C	1.000
11:62603188:A:G	W773R	1.000

dbSNP variants (sampled 300 via entrez): RS1000181003 (11:62611738 G>A,T), RS1000283301 (11:62604455 G>A), RS1000334388 (11:62604683 G>A), RS1000527838 (11:62610450 T>C), RS1000747146 (11:62607906 C>T), RS1000966390 (11:62613557 A>G,T), RS1001406401 (11:62612805 C>T), RS1001584398 (11:62604360 ATTC>A), RS1001873884 (11:62612623 G>A), RS1001962323 (11:62608349 G>A,C,T), RS1001970612 (11:62609400 C>T), RS1002090549 (11:62601885 G>A), RS1002478260 (11:62613593 G>A,T), RS1002931542 (11:62609903 G>A), RS1003495984 (11:62603388 C>T)

Disease associations

OMIM: gene MIM:618118 | disease phenotypes: MIM:268000

GenCC curated gene-disease

Mondo (1): retinitis pigmentosa (MONDO:0019200)

Orphanet (1): Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST005956_12	Waist-to-hip ratio adjusted for BMI	2.000000e-06
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07
GCST007429_145	Lung function (FVC)	4.000000e-21
GCST007430_83	Peak expiratory flow	2.000000e-07
GCST007432_142	FEV1	2.000000e-27
GCST010244_281	Triglyceride levels	9.000000e-16
GCST012227_662	Hip circumference adjusted for BMI	2.000000e-09
GCST90020024_380	A body shape index	6.000000e-14
GCST90020025_944	Waist-to-hip ratio adjusted for BMI	2.000000e-19
GCST90020027_1479	Waist-hip index	3.000000e-20
GCST90020029_312	Waist circumference adjusted for body mass index	5.000000e-11

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004314	forced expiratory volume
EFO:0004530	triglyceride measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

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
sodium arsenite	affects expression, decreases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Valproic Acid	increases expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
zinc chromate	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Decitabine	affects expression	1
Acetaminophen	decreases expression	1
Air Pollutants, Occupational	affects expression, increases abundance, increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Ozone	affects expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	PHASE1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	PHASE1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561	PHASE1	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa