KIZ

gene

On this page

Also known as HT013

Summary

KIZ (kizuna centrosomal protein, HGNC:15865) is a protein-coding gene on chromosome 20p11.23, encoding Centrosomal protein kizuna (Q2M2Z5). Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation.

The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55857 — RefSeq curated summary.

At a glance

Gene–disease (curated): KIZ-related retinopathy (Definitive, ClinGen) — +2 more curated relationships
GWAS associations: 12
Clinical variants (ClinVar): 504 total — 29 pathogenic, 12 likely-pathogenic
Phenotypes (HPO): 38
MANE Select transcript: NM_018474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15865
Approved symbol	KIZ
Name	kizuna centrosomal protein
Location	20p11.23
Locus type	gene with protein product
Status	Approved
Aliases	HT013
Ensembl gene	ENSG00000088970
Ensembl biotype	protein_coding
OMIM	615757
Entrez	55857

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 15 protein_coding, 6 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000419359, ENST00000423272, ENST00000441136, ENST00000451772, ENST00000611685, ENST00000612654, ENST00000616679, ENST00000616848, ENST00000619179, ENST00000619189, ENST00000619574, ENST00000620553, ENST00000620891, ENST00000621366, ENST00000622184, ENST00000902219, ENST00000920799, ENST00000920800, ENST00000920801, ENST00000920802, ENST00000962858, ENST00000962859

RefSeq mRNA: 7 — MANE Select: NM_018474 NM_001163022, NM_001163023, NM_001276389, NM_001352434, NM_001352435, NM_001352436, NM_018474

CCDS: CCDS74705, CCDS74706, CCDS74707, CCDS74708

Canonical transcript exons

ENST00000619189 — 13 exons

Exon	Start	End
ENSE00003713856	21232734	21232830
ENSE00003716157	21205491	21205584
ENSE00003722440	21244245	21244288
ENSE00003722728	21229011	21229115
ENSE00003723765	21132097	21132159
ENSE00003726639	21145565	21145654
ENSE00003731415	21214535	21214700
ENSE00003741648	21215583	21215648
ENSE00003745926	21162850	21163159
ENSE00003751484	21246479	21246622
ENSE00003752553	21126082	21126204
ENSE00003758340	21136390	21136552
ENSE00003758776	21161871	21162507

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 99.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.3425 / max 373.1940, expressed in 1785 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183784	11.9768	1621
183783	8.3201	1637
183782	2.4776	1193
183780	0.9231	474
183781	0.6375	321
183791	0.0076	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.09	gold quality
germinal epithelium of ovary	UBERON:0001304	97.77	gold quality
male germ cell	CL:0000015	97.13	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.86	gold quality
parietal pleura	UBERON:0002400	96.56	gold quality
tibia	UBERON:0000979	96.47	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.18	gold quality
inferior vagus X ganglion	UBERON:0005363	95.70	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.52	gold quality
dorsal root ganglion	UBERON:0000044	95.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.42	gold quality
subthalamic nucleus	UBERON:0001906	95.14	gold quality
lateral globus pallidus	UBERON:0002476	95.12	gold quality
pons	UBERON:0000988	95.11	gold quality
seminal vesicle	UBERON:0000998	95.11	gold quality
jejunal mucosa	UBERON:0000399	94.76	gold quality
substantia nigra pars compacta	UBERON:0001965	94.69	gold quality
caput epididymis	UBERON:0004358	94.63	gold quality
superior vestibular nucleus	UBERON:0007227	94.60	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.59	gold quality
ventral tegmental area	UBERON:0002691	94.58	gold quality
corpus callosum	UBERON:0002336	94.53	gold quality
cauda epididymis	UBERON:0004360	94.52	gold quality
visceral pleura	UBERON:0002401	94.46	gold quality
trigeminal ganglion	UBERON:0001675	94.39	gold quality
pleura	UBERON:0000977	94.32	gold quality
parotid gland	UBERON:0001831	94.26	gold quality
superficial temporal artery	UBERON:0001614	94.04	gold quality
jejunum	UBERON:0002115	93.80	gold quality
dorsal plus ventral thalamus	UBERON:0001897	93.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.47

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

Immunohistology revealed KIZ localization at the basal body of the cilia in human fibroblasts, thus shedding light on another ciliary protein implicated in autosomal-recessive RCD (PMID:24680887)
Kiz phosphorylation depends on a balance between CDC25B and Plk1 activities. (PMID:25558830)
Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa. (PMID:32052671)
Long noncoding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA653 and altering CXC chemokine receptor 5 expression. (PMID:33000253)
Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism. (PMID:38927740)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kiz	ENSDARG00000079753
mus_musculus	Kiz	ENSMUSG00000074749
rattus_norvegicus	Kiz	ENSRNOG00000025141

Protein

Protein identifiers

Centrosomal protein kizuna — Q2M2Z5 (reviewed: Q2M2Z5)

Alternative names: Polo-like kinase 1 substrate 1

All UniProt accessions (7): Q2M2Z5, A0A087WTH3, A0A087WX12, A0A087WXA9, A0A087X032, A0A087X0T6, A0A087X251

UniProt curated annotations — full annotation on UniProt →

Function. Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole.

Subunit / interactions. Interacts with AKAP9, CEP72, ODF2, PCNT and TUBGCP2.

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

Post-translational modifications. Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization.

Disease relevance. Retinitis pigmentosa 69 (RP69) [MIM:615780] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Kizuna means ‘bonds’ in Japanese.

Similarity. Belongs to the kizuna family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q2M2Z5-1	1	yes
Q2M2Z5-2	2
Q2M2Z5-3	3
Q2M2Z5-4	4
Q2M2Z5-5	5

RefSeq proteins (7): NP_001156494, NP_001156495, NP_001263318, NP_001339363, NP_001339364, NP_001339365, NP_060944* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026742	Centrosomal_kizuma	Family

UniProt features (35 total): compositionally biased region 8, modified residue 6, splice variant 6, region of interest 5, sequence conflict 4, mutagenesis site 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2M2Z5-F1	54.82	0.17

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): 317, 321, 379, 647, 650, 652

Mutagenesis-validated functional residues (3):

Position	Phenotype
249	does not affect phosphorylation status.
379	abolishes phosphorylation by plk1.
379	phosphomimetic mutant able to partially restore focused bipolar spindles to plk1-depleted cells that otherwise possess a

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 184 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, EVI1_05, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, PID_PLK1_PATHWAY, GATA6_01, GOCC_CENTROSOME, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, EVI1_04, NUYTTEN_EZH2_TARGETS_DN

GO Biological Process (1): spindle organization (GO:0007051)

GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule cytoskeleton organization	1
cell cycle process	1
kinase binding	1
binding	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIZ	PCNT	O95613	659
KIZ	SHLD3	Q6ZNX1	558
KIZ	CEP72	Q9P209	541
KIZ	NKX2-4	Q9H2Z4	507
KIZ	SHLD2	Q86V20	499
KIZ	GZF1	Q9H116	473
KIZ	C8orf74	Q6P047	472
KIZ	PLK1	P53350	440
KIZ	NINL	Q9Y2I6	432
KIZ	XRN2	Q9H0D6	410
KIZ	VSIG10L	Q86VR7	409
KIZ	MFHAS1	Q9Y4C4	408
KIZ	STARD9	Q9P2P6	396
KIZ	PALM3	A6NDB9	387
KIZ	ADAM2	P78326	385

IntAct

35 interactions, top by confidence:

A	B	Type	Score
EXOC3	EXOC5	psi-mi:“MI:0914”(association)	0.790
KIZ	TACC3	psi-mi:“MI:0915”(physical association)	0.720
KIZ	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	KIZ	psi-mi:“MI:0915”(physical association)	0.560
KIZ	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
KIZ	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
KIZ	HRAS	psi-mi:“MI:0915”(physical association)	0.560
SYCE3	RER1	psi-mi:“MI:0914”(association)	0.530
CEP72	KIZ	psi-mi:“MI:0915”(physical association)	0.460
KIZ	CEP72	psi-mi:“MI:0915”(physical association)	0.460
CEP72	KIZ	psi-mi:“MI:0403”(colocalization)	0.460
SCLT1	CCDC22	psi-mi:“MI:0914”(association)	0.420
Kiz	KIZ	psi-mi:“MI:0915”(physical association)	0.400
PRPS2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
SYCE3	TRIM24	psi-mi:“MI:0914”(association)	0.350
KIZ	PRDM1	psi-mi:“MI:0914”(association)	0.350
KIZ	AIFM1	psi-mi:“MI:0914”(association)	0.350
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
SCLT1	VWA8	psi-mi:“MI:2364”(proximity)	0.270
PCM1	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
SCLT1	ABLIM1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (39): KIZ (Two-hybrid), KIZ (Two-hybrid), KIZ (Proximity Label-MS), KIZ (Proximity Label-MS), KIZ (Affinity Capture-MS), KIZ (Proximity Label-MS), KIZ (Proximity Label-MS), KIZ (Proximity Label-MS), SCLT1 (Affinity Capture-MS), KIZ (Affinity Capture-MS), KIZ (Affinity Capture-MS), DPYSL3 (Affinity Capture-MS), BMX (Affinity Capture-MS), KIZ (Affinity Capture-RNA), KIZ (Proximity Label-MS)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: A0JNH1, A1L2H3, Q2M2Z5, Q3UXL4, Q5ZK13

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PLK1	up-regulates	KIZ	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	29
Likely pathogenic	12
Uncertain significance	242
Likely benign	157
Benign	20

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070634	NM_018474.6(KIZ):c.198dup (p.Cys67fs)	Pathogenic
1074396	NM_018474.6(KIZ):c.1283del (p.Asn428fs)	Pathogenic
1076831	NM_018474.6(KIZ):c.595C>T (p.Gln199Ter)	Pathogenic
128241	NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	Pathogenic
128243	NM_018474.6(KIZ):c.119_122del (p.Lys40fs)	Pathogenic
1354146	NM_018474.6(KIZ):c.581_605del (p.His194fs)	Pathogenic
1366725	NM_018474.6(KIZ):c.668_684del (p.Asn223fs)	Pathogenic
1441412	NM_018474.6(KIZ):c.64C>T (p.Gln22Ter)	Pathogenic
1458524	NM_018474.6(KIZ):c.490del (p.Met164fs)	Pathogenic
1458616	NM_018474.6(KIZ):c.809del (p.Lys270fs)	Pathogenic
1933998	NM_018474.6(KIZ):c.247C>T (p.Arg83Ter)	Pathogenic
1952480	NM_018474.6(KIZ):c.1874T>A (p.Leu625Ter)	Pathogenic
1974733	NM_018474.6(KIZ):c.1090dup (p.Met364fs)	Pathogenic
2025841	NM_018474.6(KIZ):c.35C>A (p.Ser12Ter)	Pathogenic
2120452	NM_018474.6(KIZ):c.1293_1294del (p.Gln432fs)	Pathogenic
2131732	NM_018474.6(KIZ):c.305_309dup (p.Leu104fs)	Pathogenic
2151289	NM_018474.6(KIZ):c.1283dup (p.Asn428fs)	Pathogenic
2162803	NM_018474.6(KIZ):c.1760del (p.Asp587fs)	Pathogenic
2766547	NM_018474.6(KIZ):c.943A>T (p.Arg315Ter)	Pathogenic
2799651	NM_018474.6(KIZ):c.1390C>T (p.Gln464Ter)	Pathogenic
2820150	NM_018474.6(KIZ):c.805A>T (p.Lys269Ter)	Pathogenic
3679322	NM_018474.6(KIZ):c.925_926del (p.His308_Ile309insTer)	Pathogenic
3692927	NM_018474.6(KIZ):c.1316C>G (p.Ser439Ter)	Pathogenic
3723666	NM_018474.6(KIZ):c.1119dup (p.Thr374fs)	Pathogenic
4719669	NM_018474.6(KIZ):c.732_829del (p.Glu245fs)	Pathogenic
813294	NM_018474.6(KIZ):c.86_89+19del	Pathogenic
864603	NM_018474.6(KIZ):c.706dup (p.Met236fs)	Pathogenic
959798	NM_018474.6(KIZ):c.762_763inv (p.Gly255Ter)	Pathogenic
964194	NM_018474.6(KIZ):c.951_958del (p.Pro318fs)	Pathogenic
1028115	NM_018474.6(KIZ):c.1612+2T>G	Likely pathogenic

SpliceAI

2823 predictions. Top by Δscore:

Variant	Effect	Δscore
20:21126200:GACAG:G	donor_gain	1.0000
20:21126201:ACAGG:A	donor_loss	1.0000
20:21126202:CAGGT:C	donor_loss	1.0000
20:21126205:G:GG	donor_gain	1.0000
20:21126205:GTAA:G	donor_loss	1.0000
20:21126206:T:G	donor_loss	1.0000
20:21132095:A:AG	acceptor_gain	1.0000
20:21132096:G:GG	acceptor_gain	1.0000
20:21145563:A:AG	acceptor_gain	1.0000
20:21145564:G:GA	acceptor_gain	1.0000
20:21145650:AAAAG:A	donor_loss	1.0000
20:21145651:AAAGG:A	donor_loss	1.0000
20:21145652:AAGG:A	donor_loss	1.0000
20:21145653:AGGTA:A	donor_loss	1.0000
20:21145654:GG:G	donor_loss	1.0000
20:21145656:T:G	donor_loss	1.0000
20:21163158:GA:G	donor_gain	1.0000
20:21163160:G:GG	donor_gain	1.0000
20:21229002:A:AG	acceptor_gain	1.0000
20:21229003:A:G	acceptor_gain	1.0000
20:21229006:A:AG	acceptor_gain	1.0000
20:21229008:CA:C	acceptor_loss	1.0000
20:21229009:A:AG	acceptor_gain	1.0000
20:21229010:G:GC	acceptor_gain	1.0000
20:21229010:GA:G	acceptor_gain	1.0000
20:21229010:GAA:G	acceptor_gain	1.0000
20:21229010:GAAA:G	acceptor_gain	1.0000
20:21229010:GAAAC:G	acceptor_gain	1.0000
20:21229111:GTCAG:G	donor_gain	1.0000
20:21229116:G:GG	donor_gain	1.0000

AlphaMissense

4446 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:21132109:A:C	R34S	0.985
20:21132109:A:T	R34S	0.985
20:21136464:G:C	R76P	0.979
20:21132117:T:C	L37P	0.978
20:21136413:T:C	L59P	0.972
20:21136425:T:C	L63P	0.971
20:21132129:T:C	L41P	0.968
20:21132108:G:C	R34T	0.967
20:21126195:T:C	L27P	0.963
20:21126198:G:C	R28P	0.959
20:21136454:G:C	A73P	0.958
20:21132100:A:C	E31D	0.936
20:21132100:A:T	E31D	0.936
20:21132107:A:G	R34G	0.936
20:21132121:A:C	E38D	0.935
20:21132121:A:T	E38D	0.935
20:21126183:T:C	L23P	0.934
20:21136468:C:A	N77K	0.926
20:21136468:C:G	N77K	0.926
20:21136442:T:C	S69P	0.923
20:21161940:T:C	F159L	0.920
20:21161942:T:A	F159L	0.920
20:21161942:T:G	F159L	0.920
20:21246523:G:C	A657P	0.908
20:21229036:G:C	K568N	0.902
20:21229036:G:T	K568N	0.902
20:21246520:G:C	A656P	0.901
20:21132099:A:T	E31V	0.899
20:21136434:T:A	I66K	0.888
20:21246527:T:C	L658S	0.881

dbSNP variants (sampled 300 via entrez): RS1000018811 (20:21203621 A>G), RS1000045549 (20:21147430 A>G,T), RS1000058167 (20:21165498 A>G), RS1000066857 (20:21160689 C>G,T), RS1000068317 (20:21148707 A>G), RS1000081048 (20:21246736 A>C,G), RS1000090703 (20:21204000 A>G), RS1000105572 (20:21243677 G>A), RS1000123334 (20:21204177 G>A,T), RS1000131140 (20:21165640 G>A), RS1000132540 (20:21225115 G>A), RS1000209503 (20:21232222 C>T), RS1000226236 (20:21166032 C>T), RS1000244845 (20:21210218 G>A,T), RS1000291410 (20:21140095 T>A)

Disease associations

OMIM: gene MIM:615757 | disease phenotypes: MIM:615780, MIM:617710, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 69	Strong	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
KIZ-related retinopathy	Definitive	AR

Mondo (5): retinitis pigmentosa 69 (MONDO:0014345), inherited retinal dystrophy (MONDO:0019118), neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (MONDO:0060578), retinitis pigmentosa (MONDO:0019200), KIZ-related retinopathy (MONDO:0700232)

Orphanet (3): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), WARS2-related combined oxidative phosphorylation defect (Orphanet:572798)

HPO phenotypes

38 total (30 of 38 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000550	Undetectable electroretinogram
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0003621	Juvenile onset
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0007994	Peripheral visual field loss

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002479_15	Lupus nephritis in systemic lupus erythematosus	5.000000e-06
GCST002647_167	Height	4.000000e-10
GCST002783_272	Body mass index	4.000000e-06
GCST002783_627	Body mass index	3.000000e-06
GCST004980_1	Peanut allergy	2.000000e-06
GCST006467_3	Ewing sarcoma	2.000000e-08
GCST007556_21	Autism spectrum disorder	3.000000e-07
GCST008839_37	Height	7.000000e-09
GCST008839_411	Height	1.000000e-19
GCST009600_39	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-10
GCST012227_1363	Hip circumference adjusted for BMI	1.000000e-10
GCST90000025_636	Appendicular lean mass	1.000000e-32

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007017	peanut allergy measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	8
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	5
trichostatin A	affects cotreatment, decreases expression	2
entinostat	affects cotreatment, decreases expression	2
Panobinostat	decreases expression, affects cotreatment	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases oxidation	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Tretinoin	decreases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases methylation	1
arsenite	affects binding, increases reaction	1
nickel sulfate	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
tebuconazole	decreases expression	1
GW 501516	increases expression, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1

Clinical trials (associated diseases)

259 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)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
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

Associated diseases: retinitis pigmentosa 69, retinitis pigmentosa 1, KIZ-related retinopathy
Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorexia nervosa, Ewing sarcoma, inherited retinal dystrophy, KIZ-related retinopathy, lupus nephritis, neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, obsessive-compulsive disorder, retinitis pigmentosa, retinitis pigmentosa 69