DZIP1L

Summary

DZIP1L (DAZ interacting zinc finger protein 1 like, HGNC:26551) is a protein-coding gene on chromosome 3q22.3, encoding Cilium assembly protein DZIP1L (Q8IYY4). Involved in primary cilium formation.

Predicted to enable zinc ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and nucleoplasm. Implicated in polycystic kidney disease 5.

Source: NCBI Gene 199221 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal recessive polycystic kidney disease (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 327 total — 12 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 57
• MANE Select transcript: NM_173543

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26551
Approved symbol	DZIP1L
Name	DAZ interacting zinc finger protein 1 like
Location	3q22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32844, DZIP2
Ensembl gene	ENSG00000158163
Ensembl biotype	protein_coding
OMIM	617570
Entrez	199221

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000327532, ENST00000466301, ENST00000467030, ENST00000469243, ENST00000473850, ENST00000486487, ENST00000488595, ENST00000490472, ENST00000492010, ENST00000851674, ENST00000851675, ENST00000912002, ENST00000912003, ENST00000965047

RefSeq mRNA: 2 — MANE Select: NM_173543 NM_001170538, NM_173543

CCDS: CCDS3096, CCDS54645

Canonical transcript exons

ENST00000327532 — 16 exons

Exon	Start	End
ENSE00001037375	138103471	138104052
ENSE00001079022	138071643	138071835
ENSE00001079024	138084113	138084253
ENSE00001079030	138092383	138092544
ENSE00001300178	138068151	138068367
ENSE00001308578	138064628	138064767
ENSE00001315181	138115328	138115608
ENSE00001320390	138061990	138062977
ENSE00001327139	138067531	138067700
ENSE00003461365	138088379	138088507
ENSE00003478086	138081734	138081764
ENSE00003512554	138086961	138087023
ENSE00003529731	138094862	138094983
ENSE00003615573	138080567	138080620
ENSE00003691422	138097763	138097847
ENSE00003694310	138077499	138077632

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 97.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0355 / max 66.2264, expressed in 1209 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44749	4.0355	1209

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.30	gold quality
sural nerve	UBERON:0015488	95.50	gold quality
bronchial epithelial cell	CL:0002328	91.21	gold quality
bronchus	UBERON:0002185	90.43	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.99	gold quality
calcaneal tendon	UBERON:0003701	87.89	gold quality
body of uterus	UBERON:0009853	84.58	gold quality
nasal cavity epithelium	UBERON:0005384	84.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.52	gold quality
endocervix	UBERON:0000458	83.42	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.42	gold quality
upper arm skin	UBERON:0004263	82.78	gold quality
tendon	UBERON:0000043	82.68	gold quality
mucosa of stomach	UBERON:0001199	82.56	gold quality
stromal cell of endometrium	CL:0002255	82.50	gold quality
ascending aorta	UBERON:0001496	81.61	gold quality
descending thoracic aorta	UBERON:0002345	81.59	gold quality
thoracic aorta	UBERON:0001515	81.56	gold quality
left ovary	UBERON:0002119	81.53	gold quality
aorta	UBERON:0000947	81.28	gold quality
popliteal artery	UBERON:0002250	81.23	gold quality
tibial artery	UBERON:0007610	81.21	gold quality
skin of leg	UBERON:0001511	81.08	gold quality
skin of abdomen	UBERON:0001416	80.97	gold quality
left uterine tube	UBERON:0001303	80.90	gold quality
right ovary	UBERON:0002118	80.80	gold quality
fallopian tube	UBERON:0003889	80.60	gold quality
metanephros cortex	UBERON:0010533	80.45	gold quality
gall bladder	UBERON:0002110	80.39	gold quality
uterine cervix	UBERON:0000002	80.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.17
E-MTAB-9801	yes	6.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting DZIP1L, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-3125	99.14	68.49	2269

Literature-anchored findings (GeneRIF, showing 4)

• Mutations in DZIP1L were characterized in patients with ARPKD. The ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. This is the first conclusive evidence that ARPKD is not a homogeneous disorder and further establishes DZIP1L as a second gene involved in ARPKD pathogenesis. (PMID:28530676)
• DZIP1L plays a role in the pathogenesis of autosomal recessive polycystic kidney disease through impact on the ciliary transition zone. (PMID:28736432)
• Cilia and polycystic kidney disease. (PMID:32475690)
• Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease. (PMID:35211789)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dzip1l	ENSDARG00000074265
mus_musculus	Dzip1l	ENSMUSG00000037784
rattus_norvegicus	Dzip1l	ENSRNOG00000014746
drosophila_melanogaster	Rilpl	FBGN0024985
caenorhabditis_elegans		WBGENE00007860

Paralogs (4): DZIP1 (ENSG00000134874), RILPL2 (ENSG00000150977), RILP (ENSG00000167705), RILPL1 (ENSG00000188026)

Protein

Protein identifiers

Cilium assembly protein DZIP1L — Q8IYY4 (reviewed: Q8IYY4)

Alternative names: DAZ-interacting zinc finger protein 1-like

All UniProt accessions (4): C9JD19, C9JRW2, Q8IYY4, H7C4G2

UniProt curated annotations — full annotation on UniProt →

Function. Involved in primary cilium formation. Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane.

Subunit / interactions. Interacts with SEPTIN2.

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

Disease relevance. Polycystic kidney disease 5 (PKD5) [MIM:617610] A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the DZIP C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IYY4-1	1	yes
Q8IYY4-2	2

RefSeq proteins (2): NP_001164009, NP_775814* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR032714	DZIP1_N	Domain
IPR051241	DZIP_RILPL	Family
IPR058883	DZIP1_dom	Domain

Pfam: PF13815, PF25977

UniProt features (25 total): sequence variant 8, compositionally biased region 6, sequence conflict 3, splice variant 2, region of interest 2, chain 1, zinc finger region 1, modified residue 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYY4-F1	70.03	0.34

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 (1): 426

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 224 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, TATTATA_MIR374, GOBP_NEURAL_TUBE_DEVELOPMENT, MEF2_02, GOCC_MICROTUBULE_ORGANIZING_CENTER, RGTTAMWNATT_HNF1_01, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_SMOOTHENED_SIGNALING_PATHWAY, GOBP_EMBRYO_DEVELOPMENT

GO Biological Process (7): smoothened signaling pathway (GO:0007224), neural tube patterning (GO:0021532), regulation of protein localization (GO:0032880), floor plate development (GO:0033504), cilium assembly (GO:0060271), protein localization to cilium (GO:0061512), ciliary transition zone assembly (GO:1905349)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (12): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centriole (GO:0005814), cytosol (GO:0005829), cilium (GO:0005929), axoneme (GO:0005930), microtubule cytoskeleton (GO:0015630), ciliary basal body (GO:0036064), intercellular bridge (GO:0045171), mitotic spindle (GO:0072686), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
neural tube development	2
microtubule organizing center	2
intracellular membraneless organelle	2
cytoskeleton	2
cell surface receptor signaling pathway	1
regionalization	1
intracellular protein localization	1
regulation of localization	1
anatomical structure development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein localization to organelle	1
cellular component assembly	1
cilium assembly	1
transition metal ion binding	1
binding	1
cation binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule	1
ciliary plasm	1
cilium	1
spindle	1

Protein interactions and networks

STRING

847 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DZIP1L	PKHD1	P08F94	670
DZIP1L	SEPTIN2	Q15019	636
DZIP1L	DAZ1	Q9NQZ3	608
DZIP1L	CIBAR1	A1XBS5	596
DZIP1L	RAB8A	P24407	515
DZIP1L	GANAB	Q14697	513
DZIP1L	DNAJB11	Q9UBS4	513
DZIP1L	CIBAR2	Q6ZTR7	491
DZIP1L	OR13C8	Q8NGS7	480
DZIP1L	FAN1	Q9Y2M0	476
DZIP1L	DZIP3	Q86Y13	449
DZIP1L	LRRC58	Q96CX6	446
DZIP1L	GREB1L	Q9C091	415
DZIP1L	ALG9	Q9H6U8	410
DZIP1L	ALG8	Q9BVK2	399

IntAct

40 interactions, top by confidence:

A	B	Type	Score
CEP76	DZIP1L	psi-mi:“MI:0915”(physical association)	0.740
DZIP1L	CEP76	psi-mi:“MI:0915”(physical association)	0.740
DZIP1L	CBY2	psi-mi:“MI:0915”(physical association)	0.700
DZIP1L	CBY1	psi-mi:“MI:0915”(physical association)	0.670
CBY2	DZIP1L	psi-mi:“MI:0915”(physical association)	0.560
DZIP1L	CBY2	psi-mi:“MI:0915”(physical association)	0.560
DZIP1L	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
DZIP1L	AMOTL2	psi-mi:“MI:0915”(physical association)	0.560
DZIP1L	PNMA5	psi-mi:“MI:0915”(physical association)	0.560
TRIM37	DZIP1L	psi-mi:“MI:0915”(physical association)	0.560
DZIP1L	LRRN4	psi-mi:“MI:0915”(physical association)	0.560
PRPF40A	DZIP1L	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
CD6	CIBAR1	psi-mi:“MI:0914”(association)	0.350
CBY1	RHOA	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DZIP1L	AMOTL2	psi-mi:“MI:0915”(physical association)	0.000
DZIP1L	CBY2	psi-mi:“MI:0915”(physical association)	0.000
DZIP1L	PNMA5	psi-mi:“MI:0915”(physical association)	0.000
PRPF40A	DZIP1L	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): DZIP1L (Two-hybrid), SPERT (Two-hybrid), DZIP1L (Reconstituted Complex), SPERT (Two-hybrid), DZIP1L (Affinity Capture-RNA), DZIP1L (Affinity Capture-MS), CEP76 (Two-hybrid), DZIP1L (Two-hybrid), DZIP1L (Two-hybrid), DZIP1L (Two-hybrid), DZIP1L (Two-hybrid), ENTHD2 (Two-hybrid), SPERT (Two-hybrid), PRPF40A (Two-hybrid), PNMA5 (Two-hybrid)

ESM2 similar proteins: A1A4V9, A2A8U2, A4IFI1, A8E4X8, B0BMZ6, F1R7R1, G5E8P0, O75161, P12755, P59017, P59240, P85299, P97432, Q14DQ1, Q2HJA5, Q3B7M3, Q3U0L2, Q3ZBK7, Q3ZK22, Q53GS7, Q569K6, Q58DT5, Q5FVG6, Q5RAS2, Q5SNT2, Q5T7N3, Q5XI52, Q60698, Q6NZQ0, Q80U62, Q812A5, Q8C0R7, Q8C190, Q8CC12, Q8IWY9, Q8IYY4, Q8N9B5, Q8NFW9, Q8R1F1, Q8R322

Diamond homologs: Q32PN7, Q499E4, Q5XIA0, Q7T019, Q86YF9, Q8BMD2, Q8IYY4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	6
Uncertain significance	157
Likely benign	87
Benign	39

Top pathogenic / likely-pathogenic (18)

Variant ID	HGVS	Classification
1484966	NM_173543.3(DZIP1L):c.288C>A (p.Tyr96Ter)	Pathogenic
1958560	NM_173543.3(DZIP1L):c.2002G>T (p.Gly668Ter)	Pathogenic
2975569	NM_173543.3(DZIP1L):c.1072G>T (p.Glu358Ter)	Pathogenic
3247063	NC_000003.11:g.(?137796321)(137796494_?)del	Pathogenic
3344999	NM_173543.3(DZIP1L):c.802_805del (p.Asp268fs)	Pathogenic
3351043	NM_173543.3(DZIP1L):c.925C>T (p.Arg309Ter)	Pathogenic
3620656	NM_173543.3(DZIP1L):c.857_858del (p.Ser286fs)	Pathogenic
431431	NM_173543.3(DZIP1L):c.269C>T (p.Ala90Val)	Pathogenic
431432	NM_173543.3(DZIP1L):c.273G>C (p.Gln91His)	Pathogenic
431433	NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)	Pathogenic
431434	NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs)	Pathogenic
4767442	NM_173543.3(DZIP1L):c.1118del (p.Ala373fs)	Pathogenic
1030323	NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)	Likely pathogenic
2443117	NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)	Likely pathogenic
2969086	NM_173543.3(DZIP1L):c.870+1G>A	Likely pathogenic
3065597	NM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter)	Likely pathogenic
3254571	NM_173543.3(DZIP1L):c.1570C>T (p.Gln524Ter)	Likely pathogenic
4775791	NM_173543.3(DZIP1L):c.1235-2A>G	Likely pathogenic

SpliceAI

3686 predictions. Top by Δscore:

Variant	Effect	Δscore
3:138062973:GAAAG:G	acceptor_gain	1.0000
3:138062974:AAAG:A	acceptor_gain	1.0000
3:138062975:AAG:A	acceptor_gain	1.0000
3:138062976:AG:A	acceptor_gain	1.0000
3:138062978:C:CC	acceptor_gain	1.0000
3:138062987:G:C	acceptor_gain	1.0000
3:138062987:G:GC	acceptor_gain	1.0000
3:138064692:ACC:A	donor_gain	1.0000
3:138064693:CCC:C	donor_gain	1.0000
3:138064763:TGTTC:T	acceptor_gain	1.0000
3:138064764:GTTC:G	acceptor_gain	1.0000
3:138064765:TTC:T	acceptor_gain	1.0000
3:138064766:TC:T	acceptor_gain	1.0000
3:138064767:CC:C	acceptor_gain	1.0000
3:138064768:C:CC	acceptor_gain	1.0000
3:138064768:C:CG	acceptor_loss	1.0000
3:138067527:TCAC:T	donor_loss	1.0000
3:138067530:C:CT	donor_loss	1.0000
3:138067697:CGTG:C	acceptor_gain	1.0000
3:138067705:C:CT	acceptor_gain	1.0000
3:138068365:TGA:T	acceptor_gain	1.0000
3:138068368:C:CC	acceptor_gain	1.0000
3:138077494:CTCA:C	donor_loss	1.0000
3:138077495:TCAC:T	donor_loss	1.0000
3:138077496:CA:C	donor_loss	1.0000
3:138077497:ACCTT:A	donor_gain	1.0000
3:138077498:CCTTC:C	donor_gain	1.0000
3:138080569:T:A	donor_gain	1.0000
3:138088373:GCTCA:G	donor_loss	1.0000
3:138088374:CTCA:C	donor_loss	1.0000

AlphaMissense

5014 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:138097824:G:C	F175L	0.998
3:138097824:G:T	F175L	0.998
3:138097826:A:G	F175L	0.998
3:138097809:A:C	F180L	0.994
3:138097809:A:T	F180L	0.994
3:138097811:A:G	F180L	0.994
3:138097790:G:T	R187S	0.993
3:138097797:G:C	H184Q	0.993
3:138097797:G:T	H184Q	0.993
3:138097799:G:C	H184D	0.992
3:138097825:A:G	F175S	0.992
3:138097830:C:A	K173N	0.992
3:138097830:C:G	K173N	0.992
3:138097785:C:A	R188S	0.991
3:138097785:C:G	R188S	0.991
3:138097825:A:C	F175C	0.990
3:138097837:C:G	C171S	0.989
3:138097838:A:T	C171S	0.989
3:138097789:C:G	R187P	0.987
3:138097799:G:T	H184N	0.986
3:138097837:C:T	C171Y	0.986
3:138097782:A:C	H189Q	0.985
3:138097782:A:T	H189Q	0.985
3:138097847:A:G	C168R	0.985
3:138103682:A:G	L97P	0.985
3:138103894:A:C	F26L	0.985
3:138103894:A:T	F26L	0.985
3:138103896:A:G	F26L	0.985
3:138097832:T:C	K173E	0.983
3:138097837:C:A	C171F	0.983

dbSNP variants (sampled 300 via entrez): RS1000015670 (3:138115525 G>A,C), RS1000084988 (3:138070171 A>G), RS1000112757 (3:138116987 A>G), RS1000158150 (3:138064031 C>T), RS1000175786 (3:138075094 A>G), RS1000266483 (3:138077107 T>C), RS1000266600 (3:138109159 C>A,T), RS1000288926 (3:138090839 A>G), RS1000334824 (3:138081579 G>A), RS1000358935 (3:138083927 T>G), RS1000391539 (3:138083734 A>C,G), RS1000451304 (3:138068441 G>A), RS1000478897 (3:138073771 G>A), RS1000508569 (3:138073478 T>A), RS1000595535 (3:138089750 T>C)

Disease associations

OMIM: gene MIM:617570 | disease phenotypes: MIM:617610

GenCC curated gene-disease

Disease	Classification	Inheritance
polycystic kidney disease 5	Strong	Autosomal recessive
autosomal recessive polycystic kidney disease	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
autosomal recessive polycystic kidney disease	Definitive	AR

Mondo (2): polycystic kidney disease 5 (MONDO:0033281), autosomal recessive polycystic kidney disease (MONDO:0009889)

Orphanet (0):

HPO phenotypes

57 total (30 of 57 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000083	Renal insufficiency
HP:0000105	Enlarged kidney
HP:0000113	Polycystic kidney dysplasia
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000457	Depressed nasal ridge
HP:0000822	Hypertension
HP:0000952	Jaundice
HP:0001395	Hepatic fibrosis
HP:0001396	Cholestasis
HP:0001405	Periportal fibrosis
HP:0001409	Portal hypertension
HP:0001433	Hepatosplenomegaly
HP:0001510	Growth delay
HP:0001541	Ascites
HP:0001562	Oligohydramnios
HP:0001737	Pancreatic cysts
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001919	Acute kidney injury
HP:0001959	Polydipsia
HP:0001971	Hypersplenism
HP:0002040	Esophageal varix
HP:0002089	Pulmonary hypoplasia
HP:0002108	Spontaneous pneumothorax
HP:0002239	Gastrointestinal hemorrhage
HP:0002243	Protein-losing enteropathy
HP:0002612	Congenital hepatic fibrosis

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
bisphenol A	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression, affects response to substance, increases expression	1
pentanal	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04782258	PHASE3	RECRUITING	A Study to See Iftolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old withAutosomal Recessive Polycystic Kidney Disease (ARPKD)
NCT04786574	PHASE3	WITHDRAWN	A Study to See if Tolvaptan Can Delay Dialysis in Infants and Children Who at Enrollment Are 28 Days to Less Than 12 Weeks Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT06147414	Not specified	RECRUITING	Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
NCT07201025	Not specified	RECRUITING	Imaging Assessments of ARPKD Kidney Disease Progression