DZIP3

Summary

DZIP3 (DAZ interacting zinc finger protein 3, HGNC:30938) is a protein-coding gene on chromosome 3q13.13, encoding E3 ubiquitin-protein ligase DZIP3 (Q86Y13). E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins.

Enables several functions, including phosphatase binding activity; polyubiquitin modification-dependent protein binding activity; and ubiquitin-protein transferase activity. Involved in protein polyubiquitination. Located in cytoplasm.

Source: NCBI Gene 9666 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 191 total
• MANE Select transcript: NM_014648

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30938
Approved symbol	DZIP3
Name	DAZ interacting zinc finger protein 3
Location	3q13.13
Locus type	gene with protein product
Status	Approved
Aliases	hRUL138, PPP1R66
Ensembl gene	ENSG00000198919
Ensembl biotype	protein_coding
OMIM	608672
Entrez	9666

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 28 protein_coding, 1 nonsense_mediated_decay

ENST00000361582, ENST00000463306, ENST00000479138, ENST00000486815, ENST00000495008, ENST00000497905, ENST00000906854, ENST00000906855, ENST00000906856, ENST00000906857, ENST00000906858, ENST00000927082, ENST00000927083, ENST00000927085, ENST00000927096, ENST00000927101, ENST00000927103, ENST00000927105, ENST00000927107, ENST00000927108, ENST00000927110, ENST00000927111, ENST00000944671, ENST00000944672, ENST00000944673, ENST00000944674, ENST00000944675, ENST00000944676, ENST00000944677

RefSeq mRNA: 1 — MANE Select: NM_014648 NM_014648

CCDS: CCDS2952

Canonical transcript exons

ENST00000361582 — 33 exons

Exon	Start	End
ENSE00000967288	108624444	108624524
ENSE00000967290	108629062	108629176
ENSE00001075536	108632953	108633072
ENSE00001075537	108634871	108634972
ENSE00001075543	108616541	108616657
ENSE00001075545	108625845	108625969
ENSE00001075550	108648918	108648962
ENSE00001159264	108693360	108694840
ENSE00001176521	108605335	108605438
ENSE00001912181	108589722	108589839
ENSE00002209347	108686445	108686584
ENSE00003460253	108677497	108677598
ENSE00003466552	108636616	108636708
ENSE00003490558	108608089	108608158
ENSE00003500423	108611174	108611329
ENSE00003500882	108654145	108654310
ENSE00003511479	108674078	108674181
ENSE00003515717	108637496	108637548
ENSE00003515881	108688593	108688736
ENSE00003523297	108669681	108669749
ENSE00003545340	108684216	108684341
ENSE00003549004	108651137	108651162
ENSE00003552172	108675786	108675873
ENSE00003565577	108644164	108644781
ENSE00003620732	108642438	108642514
ENSE00003626128	108687976	108688096
ENSE00003645569	108688823	108688924
ENSE00003647295	108690787	108690903
ENSE00003662902	108661877	108661972
ENSE00003668299	108646617	108646649
ENSE00003679479	108672560	108672656
ENSE00003683470	108662130	108662257
ENSE00003785798	108647943	108648112

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.0532 / max 645.9126, expressed in 1674 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37822	4.5004	1332
37820	2.7102	1073
37821	2.3252	981
37827	1.9895	267
37825	0.6967	328
37823	0.4390	254
37824	0.3922	190

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.37	gold quality
epithelium of bronchus	UBERON:0002031	96.80	gold quality
bronchus	UBERON:0002185	96.17	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.09	gold quality
sperm	CL:0000019	96.01	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.03	gold quality
calcaneal tendon	UBERON:0003701	95.00	gold quality
male germ cell	CL:0000015	94.25	gold quality
middle temporal gyrus	UBERON:0002771	94.25	gold quality
choroid plexus epithelium	UBERON:0003911	93.87	gold quality
epithelium of nasopharynx	UBERON:0001951	93.64	gold quality
right uterine tube	UBERON:0001302	93.25	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.81	gold quality
superior frontal gyrus	UBERON:0002661	92.57	gold quality
adrenal tissue	UBERON:0018303	92.41	gold quality
postcentral gyrus	UBERON:0002581	92.14	gold quality
substantia nigra pars compacta	UBERON:0001965	91.81	gold quality
parietal lobe	UBERON:0001872	91.69	gold quality
entorhinal cortex	UBERON:0002728	91.56	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.55	gold quality
tibia	UBERON:0000979	91.51	gold quality
pituitary gland	UBERON:0000007	91.38	gold quality
caput epididymis	UBERON:0004358	91.33	gold quality
endothelial cell	CL:0000115	91.01	gold quality
superior vestibular nucleus	UBERON:0007227	90.92	gold quality
pigmented layer of retina	UBERON:0001782	90.68	gold quality
islet of Langerhans	UBERON:0000006	90.59	gold quality
primary visual cortex	UBERON:0002436	90.12	gold quality
adenohypophysis	UBERON:0002196	89.97	gold quality
corpus callosum	UBERON:0002336	89.95	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	61.56
E-MTAB-7316	yes	31.46
E-GEOD-137537	yes	4.95
E-GEOD-81547	yes	4.73
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting DZIP3, 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-3646	100.00	73.56	5283
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3617-5P	99.75	69.41	1968

Literature-anchored findings (GeneRIF, showing 4)

• By monoubiquitination of H2A at lysine 119, 2A-HUB mediates a selective repression of a specific set of chemokine genes in macrophages, critically modulating migratory responses to TLR activation. (PMID:18206970)
• RNA-Binding RING E3-Ligase DZIP3/hRUL138 Stabilizes Cyclin D1 to Drive Cell-Cycle and Cancer Progression. (PMID:33067265)
• DZIP3 is a key factor to stratify IDH1 wild-type lower-grade gliomas. (PMID:33229627)
• Proteomic analysis of DZIP3 interactome and its role in proliferation and metastasis in gastric cancer cells. (PMID:36841324)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	zmp:0000000662	ENSDARG00000056829
mus_musculus	Dzip3	ENSMUSG00000064061
rattus_norvegicus	Dzip3	ENSRNOG00000001956
drosophila_melanogaster	sip3	FBGN0039875
caenorhabditis_elegans		WBGENE00004768
caenorhabditis_elegans	rnf-145	WBGENE00022471

Paralogs (4): RNF145 (ENSG00000145860), AMFR (ENSG00000159461), SYVN1 (ENSG00000162298), RNF139 (ENSG00000170881)

Protein

Protein identifiers

E3 ubiquitin-protein ligase DZIP3 — Q86Y13 (reviewed: Q86Y13)

Alternative names: DAZ-interacting protein 3, RING-type E3 ubiquitin transferase DZIP3, RNA-binding ubiquitin ligase of 138 kDa

All UniProt accessions (4): Q86Y13, C9J702, C9J9M8, C9JRX4

UniProt curated annotations — full annotation on UniProt →

Function. E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA.

Subunit / interactions. Interacts with DAZ proteins.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed at low level. Highly expressed in skeletal muscle, kidney and heart. Expressed at low level in placenta, lung, brain, liver and pancreas.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86Y13-1	1	yes
Q86Y13-2	2, Short

RefSeq proteins (1): NP_055463* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR033103	DZIP3_RING-H2_finger	Domain
IPR041249	HEPN_DZIP3	Domain
IPR043866	TTC3/DZIP3_dom	Domain
IPR056870	TTC3/DZIP3/RBM44-like_helical	Domain
IPR056872	TTC3/DZIP3-like_helical	Domain

Pfam: PF13639, PF18738, PF19179, PF24525, PF24905

UniProt features (20 total): compositionally biased region 6, coiled-coil region 4, region of interest 3, splice variant 2, mutagenesis site 2, chain 1, zinc finger region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86Y13-F1	62.63	0.09

Functional residue map

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

Mutagenesis-validated functional residues (2):

Position	Phenotype
662–666	strongly decreases rna-binding activity.
1187	abolishes ubiquitin ligase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 155 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GCM_MAP4K4, MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_255, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, MODULE_317, GGGTGGRR_PAX4_03, FISCHER_G2_M_CELL_CYCLE, GROSS_HYPOXIA_VIA_ELK3_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, CAIRO_HEPATOBLASTOMA_UP

GO Biological Process (2): protein polyubiquitination (GO:0000209), protein ubiquitination (GO:0016567)

GO Molecular Function (9): RNA binding (GO:0003723), ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), phosphatase binding (GO:0019902), polyubiquitin modification-dependent protein binding (GO:0031593), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (1): cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
protein modification by small protein conjugation	1
nucleic acid binding	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
enzyme binding	1
modification-dependent protein binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DZIP3	DHRS2	Q13268	941
DZIP3	MEX3B	Q6ZN04	848
DZIP3	SNUPN	O95149	804
DZIP3	ATXN1	P54253	722
DZIP3	DAZ1	Q9NQZ3	639
DZIP3	PIK3C2A	O00443	592
DZIP3	DZIP1	Q86YF9	531
DZIP3	PFKP	Q01813	530
DZIP3	KIF23	Q02241	526
DZIP3	ZWINT	O95229	494
DZIP3	NCOR1	O75376	480
DZIP3	HDAC1	Q13547	458
DZIP3	DZIP1L	Q8IYY4	449
DZIP3	PRKDC	P78527	433
DZIP3	MORC1	Q86VD1	432

IntAct

150 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
HNRNPUL1	DZIP3	psi-mi:“MI:0915”(physical association)	0.780
DZIP3	HNRNPUL1	psi-mi:“MI:0915”(physical association)	0.780
UBE2E2	DZIP3	psi-mi:“MI:0915”(physical association)	0.750
DZIP3	UBE2E2	psi-mi:“MI:0915”(physical association)	0.750
BECN1	ZWINT	psi-mi:“MI:0914”(association)	0.750
ZNF24	DZIP3	psi-mi:“MI:0915”(physical association)	0.740
ZCCHC10	DZIP3	psi-mi:“MI:0915”(physical association)	0.740
DZIP3	ZNF24	psi-mi:“MI:0915”(physical association)	0.740
DZIP3	ZCCHC10	psi-mi:“MI:0915”(physical association)	0.740
MED4	MED14	psi-mi:“MI:0914”(association)	0.740
HNRNPF	DZIP3	psi-mi:“MI:0915”(physical association)	0.720
RBM4B	DZIP3	psi-mi:“MI:0915”(physical association)	0.670
DZIP3	RBM4B	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (218): DZIP3 (Biochemical Activity), HIST1H2AB (Biochemical Activity), HIST1H2AB (Reconstituted Complex), HIST1H2AB (Affinity Capture-Western), UBE2D2 (Reconstituted Complex), DZIP3 (Two-hybrid), DZIP3 (Two-hybrid), DZIP3 (Two-hybrid), ARHGAP32 (Two-hybrid), HNRNPUL1 (Two-hybrid), ZCCHC10 (Two-hybrid), CEP63 (Two-hybrid), RBM4B (Two-hybrid), ZNF765 (Two-hybrid), GTF2H2C_2 (Two-hybrid)

ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2

Diamond homologs: A5WWA0, E9QAU8, G3X9R7, O22197, O22755, O43567, O54965, O64763, P0C034, P0CH30, P0DPR2, Q06003, Q07G42, Q08D68, Q0II22, Q0VD51, Q10R93, Q14B02, Q29RU0, Q2TA44, Q3U2C5, Q4KLR8, Q4R6Y5, Q5NCP0, Q5RCV8, Q5RF74, Q5SPX3, Q5SSZ7, Q5XF85, Q641J8, Q66HG0, Q68DV7, Q69U49, Q6AY01, Q6DIP3, Q6IRP0, Q6NML0, Q6NQG7, Q6NRX0, Q6Y290

SIGNOR signaling

18 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	DZIP3	ubiquitination
DZIP3	“up-regulates activity”	H2AC4	monoubiquitination
DZIP3	“up-regulates activity”	H2AZ1	monoubiquitination
DZIP3	“up-regulates activity”	H2AC11	monoubiquitination
DZIP3	“up-regulates activity”	H2AX	monoubiquitination
DZIP3	“up-regulates activity”	H2AC7	monoubiquitination
DZIP3	“up-regulates activity”	H2AC20	monoubiquitination
DZIP3	“up-regulates activity”	H2AC18	monoubiquitination
DZIP3	“up-regulates activity”	H2AZ2	monoubiquitination
DZIP3	“up-regulates activity”	H2AW	monoubiquitination
DZIP3	“up-regulates activity”	H2AC21	monoubiquitination
DZIP3	“up-regulates activity”	H2AC6	monoubiquitination
DZIP3	“up-regulates activity”	H2AC12	monoubiquitination
DZIP3	“up-regulates activity”	H2AC1	monoubiquitination
DZIP3	“up-regulates activity”	H2AC14	monoubiquitination
DZIP3	“up-regulates activity”	H2AJ	monoubiquitination
DZIP3	“down-regulates quantity by destabilization”	ATXN1	polyubiquitination
HOTAIR	“up-regulates activity”	DZIP3	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
TICAM1, RIP1-mediated IKK complex recruitment	7	62.8×	1e-09
IKK complex recruitment mediated by RIP1	7	51.9×	3e-09
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	8	44.0×	1e-09
NOD1/2 Signaling Pathway	5	23.7×	1e-04
E3 ubiquitin ligases ubiquitinate target proteins	7	20.2×	3e-06
Regulation of TNFR1 signaling	5	16.7×	6e-04
Antigen processing: Ubiquitination & Proteasome degradation	17	9.4×	4e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein monoubiquitination	9	34.4×	1e-09
protein K11-linked ubiquitination	6	26.1×	6e-06
protein K63-linked ubiquitination	8	23.8×	1e-07
protein K48-linked ubiquitination	10	18.7×	2e-08
protein polyubiquitination	13	16.7×	4e-10
endocytic recycling	5	14.9×	1e-03
ubiquitin-dependent protein catabolic process	12	9.9×	2e-07
proteasome-mediated ubiquitin-dependent protein catabolic process	9	5.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	141
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4480 predictions. Top by Δscore:

Variant	Effect	Δscore
3:108608084:AATAG:A	acceptor_gain	1.0000
3:108608086:TAGG:T	acceptor_loss	1.0000
3:108608087:A:AG	acceptor_gain	1.0000
3:108608087:AG:A	acceptor_gain	1.0000
3:108608088:G:GG	acceptor_gain	1.0000
3:108608088:GG:G	acceptor_gain	1.0000
3:108608088:GGC:G	acceptor_gain	1.0000
3:108608155:ACTG:A	donor_gain	1.0000
3:108608156:CTGG:C	donor_loss	1.0000
3:108608157:TGGTA:T	donor_loss	1.0000
3:108608159:G:GG	donor_gain	1.0000
3:108608159:GTA:G	donor_loss	1.0000
3:108608160:T:G	donor_loss	1.0000
3:108624439:TGTA:T	acceptor_loss	1.0000
3:108624440:GTA:G	acceptor_loss	1.0000
3:108624441:TA:T	acceptor_loss	1.0000
3:108624442:A:AG	acceptor_gain	1.0000
3:108624442:A:T	acceptor_loss	1.0000
3:108624443:G:GT	acceptor_gain	1.0000
3:108624524:GGT:G	donor_loss	1.0000
3:108624525:G:T	donor_loss	1.0000
3:108624526:T:G	donor_loss	1.0000
3:108625842:CA:C	acceptor_loss	1.0000
3:108625843:A:AG	acceptor_gain	1.0000
3:108625843:A:AT	acceptor_loss	1.0000
3:108625843:AG:A	acceptor_gain	1.0000
3:108625844:G:GG	acceptor_gain	1.0000
3:108625844:GG:G	acceptor_gain	1.0000
3:108625844:GGATT:G	acceptor_gain	1.0000
3:108625966:AGAGG:A	donor_loss	1.0000

AlphaMissense

8059 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:108688901:T:C	C1165R	1.000
3:108688902:G:A	C1165Y	1.000
3:108688913:T:C	F1169L	1.000
3:108688915:C:A	F1169L	1.000
3:108688915:C:G	F1169L	1.000
3:108690820:T:C	C1184R	1.000
3:108690821:G:A	C1184Y	1.000
3:108690822:T:G	C1184W	1.000
3:108690829:T:C	C1187R	1.000
3:108644209:T:C	L396P	0.999
3:108644296:T:C	L425P	0.999
3:108644440:T:C	L473P	0.999
3:108644481:T:A	W487R	0.999
3:108644481:T:C	W487R	0.999
3:108644536:T:C	L505P	0.999
3:108674097:G:C	R870P	0.999
3:108675826:T:A	W912R	0.999
3:108675826:T:C	W912R	0.999
3:108688850:T:C	C1148R	0.999
3:108688859:T:C	C1151R	0.999
3:108688901:T:A	C1165S	0.999
3:108688902:G:C	C1165S	0.999
3:108688903:C:G	C1165W	0.999
3:108688907:C:G	H1167D	0.999
3:108688914:T:C	F1169S	0.999
3:108688914:T:G	F1169C	0.999
3:108690787:T:A	C1173S	0.999
3:108690787:T:C	C1173R	0.999
3:108690788:G:C	C1173S	0.999
3:108690799:T:A	W1177R	0.999

dbSNP variants (sampled 300 via entrez): RS1000015016 (3:108657175 A>C), RS1000015660 (3:108612032 T>C), RS1000016068 (3:108597155 CT>C), RS1000048790 (3:108630732 A>G,T), RS1000090068 (3:108655670 C>T), RS1000149577 (3:108663241 AGCTG>A), RS1000227193 (3:108675620 A>G), RS1000260573 (3:108627342 G>A,T), RS1000264806 (3:108618215 A>G), RS1000266293 (3:108607628 T>C,G), RS1000267759 (3:108678844 A>G), RS1000268447 (3:108638492 T>C), RS1000287102 (3:108684101 T>C), RS1000299712 (3:108638137 T>C), RS1000353732 (3:108614375 G>A)

Disease associations

OMIM: gene MIM:608672 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004619_65	Reticulocyte fraction of red cells	7.000000e-09
GCST90002405_23	Reticulocyte count	2.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
perfluorooctane sulfonic acid	decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	affects expression, decreases methylation, increases expression	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
abrine	increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Amphotericin B	decreases expression	1
Berberine	increases expression	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Endosulfan	decreases expression	1
Estradiol	decreases expression, increases reaction	1
Ethyl Methanesulfonate	increases expression	1
Gold	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	increases expression, affects cotreatment	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SL29	HAP1 DZIP3 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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