ANKFY1

Summary

ANKFY1 (ankyrin repeat and FYVE domain containing 1, HGNC:20763) is a protein-coding gene on chromosome 17p13.2, encoding Ankyrin repeat and FYVE domain-containing protein 1 (Q9P2R3). Proposed effector of Rab5.

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene.

Source: NCBI Gene 51479 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial idiopathic steroid-resistant nephrotic syndrome (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 267 total — 1 pathogenic
• Phenotypes (HPO): 17
• MANE Select transcript: NM_001330063

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20763
Approved symbol	ANKFY1
Name	ankyrin repeat and FYVE domain containing 1
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	ANKHZN, KIAA1255, ZFYVE14, BTBD23, RANK-5
Ensembl gene	ENSG00000185722
Ensembl biotype	protein_coding
OMIM	607927
Entrez	51479

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 6 retained_intron, 5 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000341657, ENST00000570535, ENST00000570934, ENST00000571547, ENST00000572412, ENST00000572564, ENST00000573250, ENST00000573722, ENST00000574367, ENST00000574736, ENST00000575298, ENST00000575509, ENST00000575955, ENST00000648043, ENST00000918777

RefSeq mRNA: 3 — MANE Select: NM_001330063 NM_001257999, NM_001330063, NM_016376

CCDS: CCDS42236, CCDS58502, CCDS82038

Canonical transcript exons

ENST00000341657 — 25 exons

Exon	Start	End
ENSE00002657218	4163821	4167911
ENSE00002659180	4182181	4182349
ENSE00002669364	4263932	4263979
ENSE00003461954	4177126	4177302
ENSE00003470763	4184818	4185046
ENSE00003478197	4197373	4197577
ENSE00003510733	4195403	4195471
ENSE00003521618	4172556	4172680
ENSE00003529491	4242256	4242448
ENSE00003535825	4183398	4183551
ENSE00003536352	4194978	4195177
ENSE00003536487	4169198	4169288
ENSE00003538632	4207933	4208082
ENSE00003543095	4206321	4206486
ENSE00003544894	4235772	4235890
ENSE00003594692	4183812	4183910
ENSE00003608224	4170715	4170861
ENSE00003619404	4173354	4173444
ENSE00003637693	4173909	4174056
ENSE00003645120	4189382	4189479
ENSE00003663565	4178857	4179057
ENSE00003670768	4181254	4181372
ENSE00003677530	4209824	4209947
ENSE00003681976	4179721	4179877
ENSE00003688483	4216983	4217118

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 94.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6966 / max 94.3440, expressed in 1800 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163905	12.6873	1800
163904	0.0093	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of hip	UBERON:0001554	94.91	gold quality
parietal pleura	UBERON:0002400	93.52	gold quality
corpus callosum	UBERON:0002336	93.42	gold quality
visceral pleura	UBERON:0002401	93.42	gold quality
tibia	UBERON:0000979	93.16	gold quality
calcaneal tendon	UBERON:0003701	92.91	gold quality
upper leg skin	UBERON:0004262	92.77	gold quality
palpebral conjunctiva	UBERON:0001812	92.52	gold quality
lateral globus pallidus	UBERON:0002476	92.21	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.00	gold quality
pleura	UBERON:0000977	91.89	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.56	gold quality
cerebellar hemisphere	UBERON:0002245	91.51	gold quality
cerebellar cortex	UBERON:0002129	91.41	gold quality
sural nerve	UBERON:0015488	91.26	gold quality
ventricular zone	UBERON:0003053	91.00	gold quality
cortical plate	UBERON:0005343	90.80	gold quality
body of uterus	UBERON:0009853	90.48	gold quality
cerebellum	UBERON:0002037	90.30	gold quality
germinal epithelium of ovary	UBERON:0001304	89.95	gold quality
stromal cell of endometrium	CL:0002255	89.78	gold quality
mucosa of stomach	UBERON:0001199	89.78	gold quality
ganglionic eminence	UBERON:0004023	89.42	gold quality
inferior vagus X ganglion	UBERON:0005363	89.30	gold quality
left ovary	UBERON:0002119	89.24	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.11	gold quality
right ovary	UBERON:0002118	89.11	gold quality
subthalamic nucleus	UBERON:0001906	88.90	gold quality
right adrenal gland cortex	UBERON:0035827	88.88	gold quality
colonic epithelium	UBERON:0000397	88.72	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.38
E-MTAB-6142	no	213.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

205 targeting ANKFY1, 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-8485	100.00	77.57	4731
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787

Literature-anchored findings (GeneRIF, showing 5)

• Characterization of the related mouse gene (PMID:10092534)
• Rab5 regulates and coordinates different endocytic mechanisms through its effector Rabankyrin-5 (PMID:15328530)
• Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function (PMID:22284051)
• Rabankyrin-5 is required for internalization and trafficking of the PDGF receptor. (PMID:24102721)
• ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway. (PMID:33092793)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankfy1	ENSDARG00000061013
mus_musculus	Ankfy1	ENSMUSG00000020790
rattus_norvegicus	Ankfy1	ENSRNOG00000016212
drosophila_melanogaster	CG41099	FBGN0039955
caenorhabditis_elegans	F22G12.4	WBGENE00009064

Protein

Protein identifiers

Ankyrin repeat and FYVE domain-containing protein 1 — Q9P2R3 (reviewed: Q9P2R3)

Alternative names: Ankyrin repeats hooked to a zinc finger motif, Rab5-binding and ankyrin repeats-containing protein

All UniProt accessions (4): Q9P2R3, I3L1Z9, I3L3P8, K7EPT2

UniProt curated annotations — full annotation on UniProt →

Function. Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI[3]P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of clathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport. Required for podocyte migration.

Subunit / interactions. Interacts with RAB5A (in GTP-bound form). Interacts with RHOD (independent of GTP-loaded status). Interacts (via NPF motif) with EHD1 (via EH domain). Interacts with VPS26A and VPS35; the interaction is independent of EHD1 and is indicative for an association with the cargo recognition subcomplex of the retromer complex. Interacts with GAPVD1.

Subcellular location. Cytoplasm. Endosome membrane. Early endosome.

Tissue specificity. High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. Expressed in podocytes (at protein level).

Domain organisation. The FYVE-type zinc finger domain is required for endosomal localization.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9P2R3-1	1	yes
Q9P2R3-2	2
Q9P2R3-4	4

RefSeq proteins (3): NP_001244928, NP_001316992, NP_057460 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR000306	Znf_FYVE	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR049763	ANKFY1_BACK	Domain
IPR049764	ANFY1_FYVE	Domain
IPR049765	ANFY1_BTB_POZ	Domain
IPR051165	Multifunctional_ANK_Repeat	Family

Pfam: PF00023, PF00651, PF01363, PF12796, PF13637

UniProt features (78 total): sequence conflict 35, repeat 21, binding site 8, modified residue 2, splice variant 2, mutagenesis site 2, initiator methionine 1, chain 1, domain 1, zinc finger region 1, region of interest 1, coiled-coil region 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2R3-F1	86.98	0.51

Functional residue map

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

Ligand- & substrate-binding residues (8): 1110; 1113; 1126; 1129; 1134; 1137; 1156; 1159

Post-translational modifications (2): 2, 270

Mutagenesis-validated functional residues (2):

Position	Phenotype
421–423	disrupts interaction with ehd1.
424–425	decreases interaction with ehd1.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9013405	RHOD GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 285 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GCM_MAP4K4, GOBP_PINOCYTOSIS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_LYSOSOMAL_TRANSPORT, MODULE_255, GOCC_VACUOLAR_MEMBRANE, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, MODULE_317, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING

GO Biological Process (6): endocytosis (GO:0006897), endosomal transport (GO:0016197), endosomal vesicle fusion (GO:0034058), retrograde transport, endosome to Golgi (GO:0042147), positive regulation of pinocytosis (GO:0048549), Golgi to lysosome transport (GO:0090160)

GO Molecular Function (5): zinc ion binding (GO:0008270), small GTPase binding (GO:0031267), phosphatidylinositol phosphate binding (GO:1901981), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (10): lysosomal membrane (GO:0005765), endosome (GO:0005768), early endosome (GO:0005769), cytosol (GO:0005829), endosome membrane (GO:0010008), membrane (GO:0016020), macropinosome (GO:0044354), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), retromer complex (GO:0030904)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
vesicle-mediated transport	2
cytosolic transport	2
endomembrane system	2
endosome	2
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
intracellular transport	1
vesicle fusion	1
intercellular transport	1
endosomal transport	1
pinocytosis	1
positive regulation of endocytosis	1
regulation of pinocytosis	1
Golgi to vacuole transport	1
lysosomal transport	1
transition metal ion binding	1
GTPase binding	1
phospholipid binding	1
binding	1
cation binding	1
lysosome	1
lytic vacuole membrane	1
cytoplasmic vesicle	1
cytoplasm	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
pinosome	1
extracellular vesicle	1
intracellular anatomical structure	1
membrane protein complex	1

Protein interactions and networks

STRING

2604 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKFY1	RAB5A	P20339	958
ANKFY1	KIF1C	O43896	858
ANKFY1	TBC1D8B	Q0IIM8	690
ANKFY1	RBSN	Q9H1K0	676
ANKFY1	GAPVD1	Q14C86	673
ANKFY1	RABEP1	Q15276	656
ANKFY1	EHD1	Q9H4M9	647
ANKFY1	CUL3	Q13618	578
ANKFY1	ARRB2	P32121	577
ANKFY1	RHOD	O00212	567
ANKFY1	APPL1	Q9UKG1	526
ANKFY1	RABGEF1	Q9UJ41	496
ANKFY1	EHD3	Q9NZN3	490
ANKFY1	EEA1	Q15075	476
ANKFY1	FHIP2B	Q86V87	471

IntAct

70 interactions, top by confidence:

A	B	Type	Score
PRDM14	CBFA2T2	psi-mi:“MI:0914”(association)	0.860
HIF1AN	APBA3	psi-mi:“MI:0914”(association)	0.850
ANKRD44	PPP6C	psi-mi:“MI:0914”(association)	0.790
EHD1	ANKFY1	psi-mi:“MI:0915”(physical association)	0.730
ANKFY1	EHD1	psi-mi:“MI:0915”(physical association)	0.730
ANKFY1	EHD1	psi-mi:“MI:0403”(colocalization)	0.730
ANKFY1	EHD1	psi-mi:“MI:0407”(direct interaction)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CREB5	JUN	psi-mi:“MI:0914”(association)	0.690
HIF1AN	GMDS	psi-mi:“MI:0914”(association)	0.640
SSRP1	H3C1	psi-mi:“MI:0914”(association)	0.610
GABARAP	IPO5	psi-mi:“MI:0914”(association)	0.590
SPOPL	SPOP	psi-mi:“MI:0914”(association)	0.590
RAB5A	ANKFY1	psi-mi:“MI:0407”(direct interaction)	0.540
RAB5A	ANKFY1	psi-mi:“MI:0915”(physical association)	0.540
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
CBFA2T2	CBFA2T3	psi-mi:“MI:0914”(association)	0.530
GPS1	PXDNL	psi-mi:“MI:0914”(association)	0.530
SEPTIN11	SEPTIN4	psi-mi:“MI:0914”(association)	0.530
ANKFY1	EHD3	psi-mi:“MI:0915”(physical association)	0.510
EHD3	ANKFY1	psi-mi:“MI:0915”(physical association)	0.510
ANKFY1	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.500
GABARAPL1	ANKFY1	psi-mi:“MI:0915”(physical association)	0.400
MAP1LC3B	ANKFY1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (255): ANKFY1 (Affinity Capture-Western), ANKFY1 (Reconstituted Complex), ANKFY1 (Affinity Capture-Western), RHOD (Two-hybrid), RHOF (Two-hybrid), RAB5A (Reconstituted Complex), ANKFY1 (Affinity Capture-Western), ANKFY1 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), ANKFY1 (Biochemical Activity), ANKFY1 (Biochemical Activity)

ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFP5, A2QWA2, A3LX75, A4QTV1, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, E1BLZ4, O13821, O14964, O76902, O95405, O96838, P0CS26, P0CS27, P34657, P34756, P40343, Q05B78, Q0CJV3, Q0P4S0, Q0U4Z8, Q0V8S0, Q0WUR5, Q15075, Q17AN2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	ANKFY1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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
Macroautophagy	6	11.3×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	6	25.4×	4e-05
autophagosome maturation	5	23.4×	4e-04
autophagosome assembly	6	18.0×	2e-04
endocytosis	7	8.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	169
Likely benign	38
Benign	37

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	Pathogenic

SpliceAI

5708 predictions. Top by Δscore:

Variant	Effect	Δscore
17:4169191:GTCTT:G	donor_loss	1.0000
17:4169192:TCTTA:T	donor_loss	1.0000
17:4169193:CTTAC:C	donor_loss	1.0000
17:4169194:TTAC:T	donor_loss	1.0000
17:4169195:TACCA:T	donor_loss	1.0000
17:4169196:A:C	donor_loss	1.0000
17:4170713:AC:A	donor_gain	1.0000
17:4170714:CC:C	donor_gain	1.0000
17:4170714:CCCAG:C	donor_gain	1.0000
17:4170857:CAGCA:C	acceptor_gain	1.0000
17:4170858:AGCA:A	acceptor_gain	1.0000
17:4170859:GCA:G	acceptor_gain	1.0000
17:4170859:GCACT:G	acceptor_loss	1.0000
17:4170860:CA:C	acceptor_gain	1.0000
17:4170860:CAC:C	acceptor_gain	1.0000
17:4170861:ACTG:A	acceptor_loss	1.0000
17:4170862:C:CA	acceptor_loss	1.0000
17:4170862:C:CC	acceptor_gain	1.0000
17:4170863:T:A	acceptor_loss	1.0000
17:4172540:AGC:A	donor_gain	1.0000
17:4172676:GGCCT:G	acceptor_gain	1.0000
17:4172679:CT:C	acceptor_gain	1.0000
17:4172680:TC:T	acceptor_loss	1.0000
17:4172681:C:CC	acceptor_gain	1.0000
17:4172681:C:CG	acceptor_loss	1.0000
17:4172682:T:A	acceptor_loss	1.0000
17:4173445:C:CC	acceptor_gain	1.0000
17:4173904:GTTAC:G	donor_loss	1.0000
17:4173905:TTAC:T	donor_loss	1.0000
17:4173906:TACCA:T	donor_loss	1.0000

AlphaMissense

7701 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:4167812:A:C	C1159W	1.000
17:4167813:C:T	C1159Y	1.000
17:4167814:A:G	C1159R	1.000
17:4167822:C:T	C1156Y	1.000
17:4167823:A:G	C1156R	1.000
17:4167889:A:G	C1134R	1.000
17:4167900:C:A	G1130V	1.000
17:4167900:C:T	G1130E	1.000
17:4167902:G:C	C1129W	1.000
17:4167903:C:T	C1129Y	1.000
17:4167904:A:G	C1129R	1.000
17:4167907:G:C	H1128D	1.000
17:4169199:A:G	C1126R	1.000
17:4169202:G:C	H1125D	1.000
17:4169245:G:C	C1110W	1.000
17:4169247:A:G	C1110R	1.000
17:4169263:C:A	W1104C	1.000
17:4169263:C:G	W1104C	1.000
17:4169265:A:G	W1104R	1.000
17:4169265:A:T	W1104R	1.000
17:4177232:A:G	L890P	1.000
17:4177265:A:T	V879D	1.000
17:4167801:A:G	L1163P	0.999
17:4167813:C:A	C1159F	0.999
17:4167813:C:G	C1159S	0.999
17:4167814:A:T	C1159S	0.999
17:4167821:G:C	C1156W	0.999
17:4167822:C:A	C1156F	0.999
17:4167822:C:G	C1156S	0.999
17:4167823:A:T	C1156S	0.999

dbSNP variants (sampled 300 via entrez): RS1000013345 (17:4224426 G>A,C), RS1000016161 (17:4202834 A>C), RS1000036883 (17:4265816 G>A), RS1000074466 (17:4218554 G>T), RS1000090878 (17:4177050 G>A,C), RS1000119189 (17:4252676 C>A), RS1000199379 (17:4169105 C>G,T), RS1000204046 (17:4252245 G>C), RS1000232180 (17:4252170 G>C), RS1000317780 (17:4243333 C>T), RS1000348044 (17:4173262 T>A), RS1000403532 (17:4195097 T>G), RS1000406103 (17:4234739 G>A,C), RS1000449527 (17:4224699 C>T), RS1000495718 (17:4262964 C>A)

Disease associations

OMIM: gene MIM:607927 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
familial idiopathic steroid-resistant nephrotic syndrome	Supportive	Autosomal dominant
kidney disorder	Limited	Autosomal recessive

Mondo (2): kidney disorder (MONDO:0005240), familial idiopathic steroid-resistant nephrotic syndrome (MONDO:0019006)

Orphanet (0):

HPO phenotypes

17 total (17 of 17 shown, HPO-id order):

HPO	Term
HP:0000093	Proteinuria
HP:0000097	Focal segmental glomerulosclerosis
HP:0000707	Abnormality of the nervous system
HP:0000737	Irritability
HP:0000969	Edema
HP:0001945	Fever
HP:0001967	Diffuse mesangial sclerosis
HP:0002027	Abdominal pain
HP:0002315	Headache
HP:0002586	Peritonitis
HP:0003073	Hypoalbuminemia
HP:0003774	Stage 5 chronic kidney disease
HP:0011947	Respiratory tract infection
HP:0012579	Minimal change glomerulonephritis
HP:0012622	Chronic kidney disease
HP:0031504	Foamy urine
HP:0100539	Periorbital edema

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002188_5	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	5.000000e-06
GCST007268_59	Diastolic blood pressure	3.000000e-11
GCST010002_118	Refractive error	6.000000e-14
GCST012311_34	Schizophrenia x sex interaction	7.000000e-06
GCST90002383_58	Hematocrit	1.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005412	functional impairment measurement
EFO:0006336	diastolic blood pressure
EFO:0008343	sex interaction measurement
EFO:0004348	hematocrit

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression, decreases expression	3
sodium arsenite	decreases expression	2
bisphenol S	decreases methylation, affects cotreatment, decreases expression	2
Acetaminophen	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
2-butenal	decreases expression	1
arsenite	affects binding, decreases reaction	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
benzo(e)pyrene	increases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenicals	increases methylation	1
Atrazine	decreases expression	1
Benzene	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00067990	PHASE4	COMPLETED	Angiotensin II Blockade for Chronic Allograft Nephropathy
NCT00117078	PHASE4	COMPLETED	Aranesp® Monthly Preference Study - 2
NCT00117130	PHASE4	COMPLETED	Study to Evaluate Effectiveness of Aranesp®
NCT00132431	PHASE4	COMPLETED	START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00140985	PHASE4	COMPLETED	Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213)
NCT00246129	PHASE4	COMPLETED	CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00275535	PHASE4	COMPLETED	The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients
NCT00282217	PHASE4	COMPLETED	Study Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00289614	PHASE4	COMPLETED	Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT)
NCT00290069	PHASE4	UNKNOWN	Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA)
NCT00338468	PHASE4	TERMINATED	A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00443508	PHASE4	UNKNOWN	Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion
NCT00452478	PHASE4	TERMINATED	Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5
NCT00492518	PHASE4	COMPLETED	Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00505102	PHASE4	UNKNOWN	Safe Renal Function In Long Term Heart Transplanted Patients
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00688480	PHASE4	COMPLETED	Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction?
NCT00863707	PHASE4	COMPLETED	A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment
NCT01101698	PHASE4	UNKNOWN	Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients
NCT01150201	PHASE4	COMPLETED	Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease
NCT01155141	PHASE4	COMPLETED	Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH
NCT01228279	PHASE4	COMPLETED	Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis
NCT01334333	PHASE4	COMPLETED	Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients
NCT01437943	PHASE4	TERMINATED	Effect of Short Term Aliskiren Treatment in Kidney Transplant Patients
NCT01545479	PHASE4	COMPLETED	Increased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition
NCT01614431	PHASE4	COMPLETED	N Acetyl Cysteine for Cystinosis Patients
NCT01631149	PHASE4	COMPLETED	Effect of Deep BLock on Intraoperative Surgical Conditions
NCT01722513	PHASE4	UNKNOWN	Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy
NCT01985360	PHASE4	COMPLETED	ISCHEMIA-Chronic Kidney Disease Trial
NCT02311010	PHASE4	UNKNOWN	Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism
NCT02413073	PHASE4	COMPLETED	Whole Body Vibration in Kidney Disease
NCT02444013	PHASE4	UNKNOWN	Folic Acid for Prevention of Contrast Induced Nephropathy
NCT02663713	PHASE4	COMPLETED	A Randomized, Pharmacodynamic Comparison of Low Dose Ticagrelor to Clopidogrel in Patients With Prior Myocardial Infarction
NCT02707809	PHASE4	COMPLETED	Effects of Dexmedetomidine on Microcirculation of Kidney Transplant Recipient
NCT02761577	PHASE4	COMPLETED	A Prospective Study on Incidence and Prevention of Contrast-induced Nephropathy in Croatia
NCT03029351	PHASE4	TERMINATED	GLP-1 Receptor Agonist Therapy and Albuminuria in Patients With Type 2 Diabetes