TAPT1

Summary

TAPT1 (transmembrane anterior posterior transformation 1, HGNC:26887) is a protein-coding gene on chromosome 4p15.32, encoding Transmembrane anterior posterior transformation protein 1 homolog (Q6NXT6). Plays a role in primary cilia formation. It is a selective cancer dependency (DepMap: 11.2% of cell lines).

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development.

Source: NCBI Gene 202018 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex lethal osteochondrodysplasia (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 303 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 49
• Cancer dependency (DepMap): dependent in 11.2% of screened cell lines
• MANE Select transcript: NM_153365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26887
Approved symbol	TAPT1
Name	transmembrane anterior posterior transformation 1
Location	4p15.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90013
Ensembl gene	ENSG00000169762
Ensembl biotype	protein_coding
OMIM	612758
Entrez	202018

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 7 protein_coding, 7 protein_coding_CDS_not_defined, 6 retained_intron, 3 nonsense_mediated_decay

ENST00000405303, ENST00000488714, ENST00000503858, ENST00000504281, ENST00000505152, ENST00000505317, ENST00000505603, ENST00000507425, ENST00000507728, ENST00000508886, ENST00000508888, ENST00000510868, ENST00000511156, ENST00000511866, ENST00000513359, ENST00000513782, ENST00000513833, ENST00000880928, ENST00000880929, ENST00000880930, ENST00000928084, ENST00000963923, ENST00000963924

RefSeq mRNA: 1 — MANE Select: NM_153365 NM_153365

CCDS: CCDS47030

Canonical transcript exons

ENST00000405303 — 14 exons

Exon	Start	End
ENSE00001598811	16160505	16163537
ENSE00003470270	16179577	16179657
ENSE00003471409	16191361	16191523
ENSE00003475178	16174670	16174729
ENSE00003481594	16186535	16186604
ENSE00003482101	16213768	16213898
ENSE00003516379	16202462	16202580
ENSE00003541761	16166633	16166793
ENSE00003566124	16170653	16170729
ENSE00003632655	16188220	16188355
ENSE00003639559	16174204	16174272
ENSE00003644331	16186781	16186878
ENSE00003668240	16226259	16226471
ENSE00003694427	16176119	16176228

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 98.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5030 / max 535.4932, expressed in 1786 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51494	14.7944	1765
51497	1.1251	690
51495	0.3603	147
51496	0.1810	64
51492	0.0200	2
51493	0.0081	3
51491	0.0071	2
203113	0.0069	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.33	gold quality
endothelial cell	CL:0000115	98.19	gold quality
oocyte	CL:0000023	97.12	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.45	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.82	gold quality
biceps brachii	UBERON:0001507	94.60	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.54	gold quality
middle temporal gyrus	UBERON:0002771	94.13	gold quality
right adrenal gland cortex	UBERON:0035827	93.60	gold quality
gastrocnemius	UBERON:0001388	93.37	gold quality
medial globus pallidus	UBERON:0002477	93.27	gold quality
corpus callosum	UBERON:0002336	93.23	gold quality
visceral pleura	UBERON:0002401	93.12	gold quality
muscle of leg	UBERON:0001383	93.10	gold quality
adrenal tissue	UBERON:0018303	92.89	gold quality
globus pallidus	UBERON:0001875	92.88	gold quality
primary visual cortex	UBERON:0002436	92.78	gold quality
right adrenal gland	UBERON:0001233	92.54	gold quality
adrenal cortex	UBERON:0001235	92.41	gold quality
left adrenal gland	UBERON:0001234	92.34	gold quality
adrenal gland	UBERON:0002369	92.21	gold quality
mucosa of stomach	UBERON:0001199	92.10	gold quality
left adrenal gland cortex	UBERON:0035825	91.96	gold quality
sperm	CL:0000019	91.70	gold quality
renal medulla	UBERON:0000362	91.59	gold quality
inferior vagus X ganglion	UBERON:0005363	91.48	gold quality
left lobe of thyroid gland	UBERON:0001120	91.47	gold quality
right lung	UBERON:0002167	91.35	gold quality
right lobe of liver	UBERON:0001114	91.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

155 targeting TAPT1, 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-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-5680	99.91	69.83	3421

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• A perinatal lethal mutation in mouse Tapt1 results in homeotic, posterior-to-anterior transformations of the axial skeleton. (PMID:17151244)
• Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5. (PMID:36370851)
• A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. (PMID:36652330)
• TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta. (PMID:37292039)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tapt1b	ENSDARG00000061143
danio_rerio	tapt1a	ENSDARG00000073999
mus_musculus	Tapt1	ENSMUSG00000046985
rattus_norvegicus	Tapt1	ENSRNOG00000003174
drosophila_melanogaster	CG7218	FBGN0038569
caenorhabditis_elegans		WBGENE00009172

Protein

Protein identifiers

Transmembrane anterior posterior transformation protein 1 homolog — Q6NXT6 (reviewed: Q6NXT6)

Alternative names: Cytomegalovirus partial fusion receptor

All UniProt accessions (4): D6RBK3, Q6NXT6, H0Y916, H0Y985

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in primary cilia formation. May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development. May be involved in cartilage and bone development. May play a role in the differentiation of cranial neural crest cells. (Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body. Membrane.

Disease relevance. Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) [MIM:616897] An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TAPT1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NXT6-1	1	yes
Q6NXT6-2	2

RefSeq proteins (1): NP_699196* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008010	Tatp1	Family

Pfam: PF05346

UniProt features (19 total): transmembrane region 5, modified residue 3, sequence variant 3, compositionally biased region 2, region of interest 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NXT6-F1	71.98	0.32

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 (3): 2, 523, 529

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 363 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, IVANOVA_HEMATOPOIESIS_MATURE_CELL, CREBP1_Q2, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, TTGGGAG_MIR150, GOBP_REGULATION_OF_BONE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_BONE_DEVELOPMENT

GO Biological Process (10): ossification (GO:0001503), neural crest cell development (GO:0014032), cell projection organization (GO:0030030), positive regulation of cilium assembly (GO:0045724), embryonic skeletal system development (GO:0048706), cartilage development (GO:0051216), positive regulation of cartilage development (GO:0061036), positive regulation of bone development (GO:1903012), G protein-coupled receptor signaling pathway (GO:0007186), cell differentiation (GO:0030154)

GO Molecular Function (1): growth hormone-releasing hormone receptor activity (GO:0016520)

GO Cellular Component (10): nucleoplasm (GO:0005654), endoplasmic reticulum membrane (GO:0005789), centrosome (GO:0005813), cytosol (GO:0005829), membrane (GO:0016020), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
skeletal system development	2
positive regulation of developmental process	2
positive regulation of multicellular organismal process	2
G protein-coupled receptor activity	2
microtubule organizing center	2
multicellular organismal process	1
neural crest cell differentiation	1
stem cell development	1
cellular component organization	1
cilium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
positive regulation of organelle assembly	1
chordate embryonic development	1
animal organ development	1
connective tissue development	1
cartilage development	1
regulation of cartilage development	1
bone development	1
regulation of bone development	1
signal transduction	1
cellular developmental process	1
nuclear lumen	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
centriole	1
cytoplasm	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

796 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAPT1	HOXC8	P31273	811
TAPT1	LAP3	P28838	545
TAPT1	WDR87	Q6ZQQ6	515
TAPT1	SPP2	Q13103	496
TAPT1	HAUS3	Q68CZ6	487
TAPT1	TMEM38B	Q9NVV0	481
TAPT1	LDB2	O43679	476
TAPT1	RIC1	Q4ADV7	468
TAPT1	MFSD6L	Q8IWD5	453
TAPT1	NSUN7	Q8NE18	441
TAPT1	CCDC149	Q6ZUS6	439
TAPT1	GHR	P10912	436
TAPT1	OSR1	Q8TAX0	435
TAPT1	AP2A2	O94973	428
TAPT1	CRTAP	O75718	418

IntAct

15 interactions, top by confidence:

A	B	Type	Score
	UBXN8	psi-mi:“MI:0914”(association)	0.530
KCNS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
RIC3	ATP9A	psi-mi:“MI:0914”(association)	0.530
SUCO	RPL10	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
TXNDC15	GET1	psi-mi:“MI:0914”(association)	0.350
STUM	PLSCR1	psi-mi:“MI:0914”(association)	0.350
TXNDC15	MARCHF6	psi-mi:“MI:0914”(association)	0.350
FSD2	MYO9A	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350
TCTN3	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
CANX	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (73): TAPT1 (Affinity Capture-MS), TAPT1 (Affinity Capture-MS), TAPT1 (Proximity Label-MS), TAPT1 (Affinity Capture-MS), TAPT1 (Synthetic Lethality), TAPT1 (Affinity Capture-MS), TAPT1 (Affinity Capture-MS), TAPT1 (Affinity Capture-MS), TAPT1 (Affinity Capture-MS), TAPT1 (Proximity Label-MS), TAPT1 (Synthetic Lethality), TAPT1 (Proximity Label-MS), TAPT1 (Affinity Capture-MS), TAPT1 (Proximity Label-MS), TAPT1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNC1, A0PK00, A1L2R7, A2BIE7, A6QPF8, A7XZ53, B1AZA5, D3ZEH5, D3ZXD8, E1BD52, E9Q6C8, O35052, P98191, Q13507, Q17QL9, Q1LY80, Q28CY9, Q3TA38, Q4VBD2, Q5EAX9, Q5EAY8, Q5FWV6, Q5GH57, Q5RET6, Q5U239, Q5ZLG8, Q5ZMP3, Q61143, Q63ZG0, Q6DD44, Q6DE21, Q6NXT6, Q8CIF6, Q8NBJ9, Q8WVP7, Q91XU8, Q92903, Q9DA37, Q9H330, Q9JMI9

Diamond homologs: A2BIE7, F4HVJ3, O60067, P40085, Q4VBD2, Q550C1, Q5EAY8, Q5ZLG8, Q6NXT6, Q9U3H8, Q9VED0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	74
Likely benign	131
Benign	67

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
224906	NM_153365.3(TAPT1):c.1108-1G>C	Pathogenic
224907	NM_153365.3(TAPT1):c.1058A>T (p.Asp353Val)	Pathogenic
3362631	NM_153365.3(TAPT1):c.846+2T>A	Pathogenic
3653152	NM_153365.3(TAPT1):c.743_744del (p.Tyr248fs)	Pathogenic
4797469	NM_153365.3(TAPT1):c.806C>G (p.Ser269Ter)	Pathogenic
1252088	NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)	Likely pathogenic
2427430	NC_000004.11:g.(?16188138)(16189998_?)dup	Likely pathogenic
2794225	NM_153365.3(TAPT1):c.1107+1_1107+8del	Likely pathogenic
4724113	NM_153365.3(TAPT1):c.917-1G>T	Likely pathogenic

SpliceAI

2402 predictions. Top by Δscore:

Variant	Effect	Δscore
4:16163537:CCTG:C	acceptor_loss	1.0000
4:16163538:C:A	acceptor_loss	1.0000
4:16163538:C:CC	acceptor_gain	1.0000
4:16163539:T:A	acceptor_loss	1.0000
4:16166628:CCTA:C	donor_loss	1.0000
4:16166629:CTA:C	donor_loss	1.0000
4:16166631:ACCTT:A	donor_loss	1.0000
4:16166676:G:A	donor_gain	1.0000
4:16166789:TCAAC:T	acceptor_gain	1.0000
4:16166790:CAAC:C	acceptor_gain	1.0000
4:16166790:CAACC:C	acceptor_gain	1.0000
4:16166791:AAC:A	acceptor_gain	1.0000
4:16166792:AC:A	acceptor_gain	1.0000
4:16166793:CC:C	acceptor_gain	1.0000
4:16166794:C:CA	acceptor_loss	1.0000
4:16166794:C:CC	acceptor_gain	1.0000
4:16166795:T:C	acceptor_loss	1.0000
4:16174202:A:AC	donor_gain	1.0000
4:16174203:C:CT	donor_gain	1.0000
4:16174203:CTA:C	donor_gain	1.0000
4:16174203:CTAA:C	donor_gain	1.0000
4:16174203:CTAAA:C	donor_gain	1.0000
4:16174270:TGCC:T	acceptor_loss	1.0000
4:16174271:GCCTG:G	acceptor_loss	1.0000
4:16174273:CTGA:C	acceptor_loss	1.0000
4:16174274:T:A	acceptor_loss	1.0000
4:16174652:C:CA	donor_gain	1.0000
4:16174668:A:AC	donor_gain	1.0000
4:16174669:C:CC	donor_gain	1.0000
4:16176115:ATAC:A	donor_loss	1.0000

AlphaMissense

3732 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:16176134:A:C	N364K	1.000
4:16176134:A:T	N364K	1.000
4:16176137:G:C	F363L	1.000
4:16176137:G:T	F363L	1.000
4:16176139:A:G	F363L	1.000
4:16176149:A:C	F359L	1.000
4:16176149:A:T	F359L	1.000
4:16176151:A:G	F359L	1.000
4:16176154:C:G	A358P	1.000
4:16176158:T:A	K356N	1.000
4:16176158:T:G	K356N	1.000
4:16186555:A:G	L299P	1.000
4:16186575:C:A	K292N	1.000
4:16186575:C:G	K292N	1.000
4:16186577:T:C	K292E	1.000
4:16186578:G:C	F291L	1.000
4:16186578:G:T	F291L	1.000
4:16186579:A:C	F291C	1.000
4:16186579:A:G	F291S	1.000
4:16186580:A:G	F291L	1.000
4:16186580:A:T	F291I	1.000
4:16186582:A:T	V290D	1.000
4:16186590:T:A	K287N	1.000
4:16186590:T:G	K287N	1.000
4:16186591:T:A	K287I	1.000
4:16186602:A:C	F283L	1.000
4:16186602:A:T	F283L	1.000
4:16186604:A:G	F283L	1.000
4:16186781:A:C	N282K	1.000
4:16186781:A:T	N282K	1.000

dbSNP variants (sampled 300 via entrez): RS1000036001 (4:16221326 G>A), RS1000122404 (4:16223471 T>C), RS1000142929 (4:16180122 G>A), RS1000250489 (4:16204643 G>T), RS1000353545 (4:16192946 A>G), RS1000373002 (4:16166312 A>G), RS10004142 (4:16189113 A>G), RS1000489255 (4:16194974 C>T), RS1000554297 (4:16221108 A>G), RS1000587813 (4:16203199 G>A,C), RS1000598278 (4:16190341 CTTTT>C,CTT,CTTT,CTTTTT), RS1000620475 (4:16203508 C>T), RS1000674317 (4:16218705 A>T), RS1000688229 (4:16191266 C>T), RS10007592 (4:16220423 A>C)

Disease associations

OMIM: gene MIM:612758 | disease phenotypes: MIM:616897

GenCC curated gene-disease

Disease	Classification	Inheritance
complex lethal osteochondrodysplasia	Strong	Autosomal recessive
cataract	Limited	Autosomal recessive

Mondo (3): complex lethal osteochondrodysplasia (MONDO:0014821), scoliosis (MONDO:0005392), cataract (MONDO:0005129)

Orphanet (1): Complex lethal osteochondrodysplasia (Orphanet:457378)

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000506	Telecanthus
HP:0000773	Short ribs
HP:0000926	Platyspondyly
HP:0000938	Osteopenia
HP:0001181	Adducted thumb
HP:0001195	Single umbilical artery
HP:0001321	Cerebellar hypoplasia
HP:0001371	Flexion contracture
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001541	Ascites
HP:0001561	Polyhydramnios
HP:0001629	Ventricular septal defect
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002337_121	Amyotrophic lateral sclerosis (sporadic)	3.000000e-07
GCST003139_3	Glomerular filtration rate in chronic kidney disease	8.000000e-06
GCST004025_22	Systemic juvenile idiopathic arthritis	4.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002386	Cataract	C11.510.245
D012600	Scoliosis	C05.116.900.800.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	4
Acetaminophen	increases expression, decreases expression	2
dicrotophos	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9TW	Ubigene HEK293 TAPT1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00273221	PHASE4	UNKNOWN	Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial
NCT00312299	PHASE4	COMPLETED	Posterior Capsule Opacification Study
NCT00345046	PHASE4	COMPLETED	A Comparison of Three Different Formulations of Prednisolone Acetate 1%
NCT00347243	PHASE4	COMPLETED	Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Intraocular Lenses
NCT00347503	PHASE4	COMPLETED	Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients
NCT00348244	PHASE4	COMPLETED	Ketorolac vs. Steroid in the Prevention of CME
NCT00348270	PHASE4	COMPLETED	Comparison of the Quality of Vision Provided by AMO Tecnis Z9000 and Alcon Laboratories MA60 Acrysof Posterior Chamber Intraocular Lenses
NCT00348582	PHASE4	COMPLETED	Acular LS vs. Nevanac in Post op Inflammation Following Cataract Surgery
NCT00348621	PHASE4	COMPLETED	A Study of Interventions to Reduce Disability From Visual Loss in Nursing Home Residents
NCT00349583	PHASE4	COMPLETED	Efficacy of Topical Cyclosporine Versus Tears for Improving Visual Outcomes Following Multifocal IOL Implantation
NCT00355446	PHASE4	COMPLETED	Bioavailability of Bimatoprost Ophthalmic Solution in Human Aqueous.
NCT00386438	PHASE4	COMPLETED	Efficacy of Honan Balloon in Intraocular Pressure Reduction Before Phacoemulsification
NCT00392275	PHASE4	COMPLETED	Penetrance of Third Generation Fluoroquinolones in Eyes With Functioning Filtering Blebs
NCT00428363	PHASE4	COMPLETED	Effect of Optic Edge Design in a Silicone Intraocular Lens on Posterior Capsule Opacification
NCT00449267	PHASE4	COMPLETED	Aurolab Hydrophobic Foldable Intraocular Lens Study
NCT00459303	PHASE4	COMPLETED	Comparison of Functional Vision Provided by AMO Tecnis Z9000 and Alcon SA60AT Acrysof
NCT00469690	PHASE4	COMPLETED	Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients: Trough Drug Effects
NCT00576485	PHASE4	COMPLETED	Spherical Aberration and Contrast Sensitivity in IOLs
NCT00612729	PHASE4	COMPLETED	Light Filters in Intraocular Lenses (IOLs) and Its Influence on Colour and Contrast Vision.
NCT00612781	PHASE4	COMPLETED	Yellow Versus White Study
NCT00630019	PHASE4	COMPLETED	Ocular Tissue Levels of 1.5% Levofloxacin Ophthalmic Solution Compared to an Active Comparator
NCT00673803	PHASE4	COMPLETED	Influence of Two Different Preloaded Intraocular Lens (IOLs) on Posterior Capsule Opacification
NCT00684138	PHASE4	COMPLETED	ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL)
NCT00698724	PHASE4	COMPLETED	Comparing Optical Coherence Tomography (OCT) and Visual Acuity Outcomes in Subjects Undergoing Cataract Surgery, Who Receive Xibrom Ophthalmic Solution and Standard Presurgical Care vs. Xibrom Ophthalmic Solution Plus Prednisolone Acetate 1% and Standard Presurgical Care
NCT00710905	PHASE4	TERMINATED	Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3
NCT00710931	PHASE4	COMPLETED	Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1
NCT00711347	PHASE4	COMPLETED	Intraoperative Floppy Iris Syndrome
NCT00712244	PHASE4	COMPLETED	DisCoVisc Versus DuoVisc, Healon5 and AmVisc Plus
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00719732	PHASE4	COMPLETED	Visual Function After Implantation of Bilateral AcrySof ReSTOR Aspheric +3
NCT00721253	PHASE4	COMPLETED	Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA
NCT00731640	PHASE4	COMPLETED	Contralateral ReSTOR / Monofocal or Phakic Eye
NCT00732030	PHASE4	COMPLETED	Low Cylinder Toric
NCT00758199	PHASE4	COMPLETED	Determination of Optimum Duration of Treatment With Bromfenac (Xibrom) Eyedrops Following Cataract Surgery
NCT00760058	PHASE4	WITHDRAWN	Visual Outcome and Visual Quality After Bilateral Implantation of the AcrySof® IQ IOL Compared to MI60® and Tecnis® IOL
NCT00760487	PHASE4	COMPLETED	Visual Function After Implantation of Bilateral AcrySof® Toric Natural Intraocular Lens
NCT00761488	PHASE4	WITHDRAWN	Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric
NCT00763360	PHASE4	COMPLETED	To Compare the Ability of DiscoVisc® OVD to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery.
NCT00786370	PHASE4	COMPLETED	Dexmedetomidine vs. Propofol for Cataract Surgery
NCT00786565	PHASE4	COMPLETED	Clinical Evaluation of a New Aspheric Intraocular Lens.