DAZAP2

Summary

DAZAP2 (DAZ associated protein 2, HGNC:2684) is a protein-coding gene on chromosome 12q13.13, encoding DAZ-associated protein 2 (Q15038). In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1.

This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9802 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_014764

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2684
Approved symbol	DAZAP2
Name	DAZ associated protein 2
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0058
Ensembl gene	ENSG00000183283
Ensembl biotype	protein_coding
OMIM	607431
Entrez	9802

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000412716, ENST00000425012, ENST00000436900, ENST00000439799, ENST00000449723, ENST00000549041, ENST00000549497, ENST00000549555, ENST00000549732, ENST00000551313, ENST00000551534, ENST00000551919, ENST00000552173, ENST00000552459, ENST00000604900, ENST00000905427

RefSeq mRNA: 6 — MANE Select: NM_014764 NM_001136264, NM_001136266, NM_001136267, NM_001136268, NM_001136269, NM_014764

CCDS: CCDS44884, CCDS44885, CCDS44886, CCDS44887, CCDS44888, CCDS8809

Canonical transcript exons

ENST00000412716 — 4 exons

Exon	Start	End
ENSE00002414615	51238826	51238920
ENSE00003466478	51240343	51240461
ENSE00003565664	51240871	51241116
ENSE00003583076	51242330	51243933

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 257.9184 / max 3785.3908, expressed in 1828 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125477	210.1544	1828
125479	34.3953	1812
125480	9.1179	1728
125478	1.8626	1046
125476	1.5292	1114
125481	0.8591	563

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	99.60	gold quality
bronchial epithelial cell	CL:0002328	99.59	gold quality
epithelium of bronchus	UBERON:0002031	99.56	gold quality
endothelial cell	CL:0000115	99.53	gold quality
bronchus	UBERON:0002185	99.52	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.49	gold quality
epithelium of nasopharynx	UBERON:0001951	99.45	gold quality
cervix squamous epithelium	UBERON:0006922	99.44	gold quality
monocyte	CL:0000576	99.42	gold quality
leukocyte	CL:0000738	99.41	gold quality
renal glomerulus	UBERON:0000074	99.41	gold quality
adult organism	UBERON:0007023	99.41	gold quality
mononuclear cell	CL:0000842	99.40	gold quality
blood	UBERON:0000178	99.38	gold quality
germinal epithelium of ovary	UBERON:0001304	99.37	gold quality
metanephric glomerulus	UBERON:0004736	99.37	gold quality
colonic mucosa	UBERON:0000317	99.36	gold quality
parotid gland	UBERON:0001831	99.36	gold quality
seminal vesicle	UBERON:0000998	99.32	gold quality
caput epididymis	UBERON:0004358	99.32	gold quality
granulocyte	CL:0000094	99.30	gold quality
trabecular bone tissue	UBERON:0002483	99.30	gold quality
visceral pleura	UBERON:0002401	99.28	gold quality
nephron tubule	UBERON:0001231	99.26	gold quality
skin of hip	UBERON:0001554	99.24	gold quality
superficial temporal artery	UBERON:0001614	99.24	gold quality
choroid plexus epithelium	UBERON:0003911	99.24	gold quality
upper leg skin	UBERON:0004262	99.24	gold quality
endometrium epithelium	UBERON:0004811	99.21	gold quality
jejunal mucosa	UBERON:0000399	99.20	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	32.59
E-MTAB-9388	yes	11.06
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting DAZAP2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-548E-5P	99.89	72.73	4486

Literature-anchored findings (GeneRIF, showing 5)

• DAZAP2 is downregulated in multiple myeloma samples and it may be a signal molecule in multiple myeloma cells. DAZAP2 is involved in the pathogenesis of MM (PMID:17935665)
• Lys residues might play important roles in regulating the intracellular dynamics of the PRTB protein.K153 in human PRTB is essential for its ubiquitin-dependent degradation (PMID:21274613)
• In summary we established a new mechanism of IL17RB regulation-Smurf2 dependent degradation of its adaptor protein DAZAP2. (PMID:22070932)
• methylation of DAZAP2 promoter was involved in downregulation of DAZAP2 in multiple myeloma cells. (PMID:22792345)
• DAZAP2 acts as specifier of the p53 response to DNA damage. (PMID:33591310)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dazap2	ENSDARG00000007867
mus_musculus	Dazap2	ENSMUSG00000000346
rattus_norvegicus	Dazap2	ENSRNOG00000004628
drosophila_melanogaster	CG34125	FBGN0083961

Protein

Protein identifiers

DAZ-associated protein 2 — Q15038 (reviewed: Q15038)

Alternative names: Deleted in azoospermia-associated protein 2, Proline-rich transcript in brain protein

All UniProt accessions (4): Q15038, E9PE89, F8VUW5, S4R3Q0

UniProt curated annotations — full annotation on UniProt →

Function. In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1. In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters. This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death. Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes. Plays a role in stress granule formation.

Subunit / interactions. Interacts with SOX6. Interacts with DAZ1 and DAZL. Interacts with IL17RB. May interact with FAM168B. Interacts with INCA1. Interacts with EIF4G1 and EIF4G2. Interacts (via PPAY motif) with NEDD4 (via WW domains). Interacts with transcription factor TCF7L2/TCF4; the interaction results in localization of DAZAP2 to the nucleus. Interacts with transcription factors TCF7 and TCF7L1. Interacts with transcription factor LEF1. Interacts with serine/threonine-protein kinase HIPK2; the interaction results in phosphorylation of DAZAP2 which causes localization of DAZAP2 to the nucleus, reduces interaction of DAZAP2 with HIPK2 and prevents DAZAP2-dependent degradation of HIPK2. Interacts with ubiquitin ligase SIAH1; the interaction is decreased following phosphorylation of DAZAP2 by HIPK2. Interacts with TP53 at TP53 target gene promoters; the interaction is triggered by DNA damage.

Subcellular location. Cytoplasm. Nucleus. Nucleus speckle. Nuclear body. Stress granule.

Tissue specificity. Widely expressed. Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. Down-regulated in multiple myeloma.

Post-translational modifications. Ubiquitinated. Ubiquitinated by SMURF2, leading to proteasomal degradation. Ubiquitinated by NEDD4, leading to proteasomal degradation. Following DNA damage, phosphorylated by HIPK2 which promotes DAZAP2 localization to the nucleus, reduces interaction of DAZAP2 with HIPK2 and SIAH1, and prevents DAZAP2-dependent ubiquitination of HIPK2 by E3 ubiquitin-protein ligase SIAH1 and subsequent HIPK2 proteasomal degradation.

Induction. Induced by cellular stress.

Isoforms (6)

UniProt ID	Names	Canonical?
Q15038-1	1	yes
Q15038-2	2
Q15038-6	6
Q15038-3	3
Q15038-4	4
Q15038-5	5

RefSeq proteins (6): NP_001129736, NP_001129738, NP_001129739, NP_001129740, NP_001129741, NP_055579* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022730	DAZ_assoc-2	Family

Pfam: PF11029

UniProt features (18 total): splice variant 5, mutagenesis site 4, sequence conflict 3, chain 1, region of interest 1, sequence variant 1, short sequence motif 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15038-F1	58.37	0.00

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): 77

Mutagenesis-validated functional residues (4):

Position	Phenotype
4	does not affect ubiquitin-mediated degradation. abolishes nuclear localization with the protein located in the cytoplasm
40–42	abolishes interaction with nedd4. abolishes nedd4-mediated ubiquitination.
77	loss of phosphorylation by hipk2.
153	abolishes ubiquitin-mediated degradation. does not affect nuclear localization.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 279 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, MORF_UBE2I, HSIAO_HOUSEKEEPING_GENES, GNF2_LYN, AGGCACT_MIR5153P, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_PROTEIN_DESTABILIZATION, UEDA_PERIFERAL_CLOCK, GNF2_MCL1, MORF_CCNI, GNF2_ICAM3, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_CTBP1, GNF2_MYD88, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (3): protein destabilization (GO:0031648), stress granule assembly (GO:0034063), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (11): p53 binding (GO:0002039), transcription coactivator activity (GO:0003713), receptor tyrosine kinase binding (GO:0030971), mitogen-activated protein kinase kinase kinase binding (GO:0031435), ubiquitin protein ligase binding (GO:0031625), identical protein binding (GO:0042802), protein serine/threonine kinase activator activity (GO:0043539), WW domain binding (GO:0050699), protein serine/threonine kinase binding (GO:0120283), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytoplasmic stress granule (GO:0010494), nuclear body (GO:0016604), nuclear speck (GO:0016607), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
protein kinase binding	2
regulation of protein stability	1
membraneless organelle assembly	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
signaling receptor binding	1
protein tyrosine kinase binding	1
ubiquitin-like protein ligase binding	1
protein serine/threonine kinase activity	1
protein kinase activator activity	1
protein domain specific binding	1
transcription factor binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasmic ribonucleoprotein granule	1
nucleoplasm	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1
cellular_component	1

Protein interactions and networks

STRING

708 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DAZAP2	DAZ1	Q9NQZ3	960
DAZAP2	DAZAP1	Q96EP5	938
DAZAP2	DAZL	Q92904	912
DAZAP2	BOLL	Q8N9W6	835
DAZAP2	TXNL1	O43396	763
DAZAP2	IL17RB	Q9NRM6	594
DAZAP2	HNRNPAB	Q99729	590
DAZAP2	DDX4	Q9NQI0	543
DAZAP2	ARX	Q96QS3	541
DAZAP2	TOB2	Q14106	528
DAZAP2	SLAIN1	Q8ND83	507
DAZAP2	BATF2	Q8N1L9	487
DAZAP2	PRTG	Q2VWP7	480
DAZAP2	DPH7	Q9BTV6	468
DAZAP2	TCF7	P36402	428

IntAct

772 interactions, top by confidence:

A	B	Type	Score
DAZAP2	ZFAND2B	psi-mi:“MI:0915”(physical association)	0.880
ZFAND2B	DAZAP2	psi-mi:“MI:0915”(physical association)	0.880
RHOXF2	DAZAP2	psi-mi:“MI:0915”(physical association)	0.850
TOLLIP	DAZAP2	psi-mi:“MI:0915”(physical association)	0.840
DAZAP2	TOLLIP	psi-mi:“MI:0915”(physical association)	0.840
DAZAP2	HGS	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	BAG3	psi-mi:“MI:0915”(physical association)	0.780
RPS27A	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	STAM2	psi-mi:“MI:0915”(physical association)	0.780
C1orf94	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	DCUN1D1	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	SPMIP9	psi-mi:“MI:0915”(physical association)	0.780
UBAC1	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	RNF208	psi-mi:“MI:0915”(physical association)	0.780
HGS	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
STAM2	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	C1orf94	psi-mi:“MI:0915”(physical association)	0.780
DCUN1D1	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
SPMIP9	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780
DAZAP2	UBAC1	psi-mi:“MI:0915”(physical association)	0.780
RNF208	DAZAP2	psi-mi:“MI:0915”(physical association)	0.780

BioGRID (304): DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), DAZAP2 (Two-hybrid), OPTN (Two-hybrid), CALCOCO2 (Two-hybrid)

ESM2 similar proteins: A0JNC2, A1KXE4, A8E639, A8MV65, D4AEP3, E3X5D6, P05411, P12981, P18870, P54864, P60486, Q08BY2, Q0IHC4, Q0VFP2, Q14157, Q15032, Q15038, Q157S1, Q16656, Q3LRZ1, Q3T0A9, Q3T0K9, Q3U182, Q4R5H7, Q53ET0, Q58D45, Q5BJ83, Q5R526, Q5RDV6, Q5U2U6, Q5XIH2, Q5ZIS9, Q68ED7, Q6PEH8, Q7PXU6, Q80TM6, Q80X50, Q80XQ8, Q8AVW3, Q8BGZ2

Diamond homologs: P60486, Q15038, Q3T0K9, Q4R5H7, Q5R526, Q9DCP9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HIPK2	“down-regulates activity”	DAZAP2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 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
InlB-mediated entry of Listeria monocytogenes into host cell	5	100.2×	1e-07
Negative regulation of MET activity	5	68.3×	8e-07
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	6	58.2×	1e-07
Endosomal Sorting Complex Required For Transport (ESCRT)	6	58.2×	1e-07
EGFR downregulation	6	54.6×	1e-07
Budding and maturation of HIV virion	5	53.7×	2e-06
Ovarian tumor domain proteases	5	36.6×	6e-06
Regulation of TNFR1 signaling	6	35.4×	9e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein K48-linked ubiquitination	5	14.8×	1e-03
protein ubiquitination	10	7.3×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1181 predictions. Top by Δscore:

Variant	Effect	Δscore
12:51242328:A:AG	acceptor_gain	1.0000
12:51242329:G:GG	acceptor_gain	1.0000
12:51246117:CAA:C	acceptor_gain	1.0000
12:51246117:CAACT:C	acceptor_gain	1.0000
12:51246120:C:CC	acceptor_gain	1.0000
12:51246121:T:C	acceptor_gain	1.0000
12:51246121:T:TC	acceptor_gain	1.0000
12:51246839:A:AC	acceptor_gain	1.0000
12:51246839:A:C	acceptor_gain	1.0000
12:51246841:G:GC	acceptor_gain	1.0000
12:51246849:G:C	acceptor_gain	1.0000
12:51246849:G:GC	acceptor_gain	1.0000
12:51241117:G:GG	donor_gain	0.9900
12:51242325:TTCAG:T	acceptor_loss	0.9900
12:51242326:TCAGC:T	acceptor_loss	0.9900
12:51242327:CAGCC:C	acceptor_loss	0.9900
12:51242328:AGCCT:A	acceptor_loss	0.9900
12:51242329:G:GC	acceptor_loss	0.9900
12:51242329:GC:G	acceptor_gain	0.9900
12:51242329:GCCT:G	acceptor_gain	0.9900
12:51246085:C:CT	acceptor_gain	0.9900
12:51246086:G:T	acceptor_gain	0.9900
12:51246091:C:CT	acceptor_gain	0.9900
12:51246829:CTT:C	acceptor_gain	0.9900
12:51246832:C:CC	acceptor_gain	0.9900
12:51269240:CCTA:C	donor_loss	0.9900
12:51269241:CTAC:C	donor_loss	0.9900
12:51269242:TAC:T	donor_loss	0.9900
12:51269243:ACC:A	donor_loss	0.9900
12:51269244:C:CT	donor_loss	0.9900

AlphaMissense

1057 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:51242361:C:A	A137D	0.999
12:51242391:T:A	V147D	0.999
12:51242343:G:A	G131E	0.998
12:51242370:C:A	A140E	0.998
12:51241084:T:C	F116L	0.997
12:51241086:T:A	F116L	0.997
12:51241086:T:G	F116L	0.997
12:51242342:G:A	G131R	0.997
12:51242342:G:C	G131R	0.997
12:51242365:G:C	Q138H	0.997
12:51242365:G:T	Q138H	0.997
12:51242367:T:C	L139P	0.997
12:51242453:T:A	W168R	0.996
12:51242453:T:C	W168R	0.996
12:51242397:T:A	V149E	0.995
12:51241082:G:T	R115I	0.994
12:51242337:C:A	P129H	0.994
12:51242352:C:A	P134H	0.994
12:51242364:A:C	Q138P	0.994
12:51242369:G:C	A140P	0.994
12:51240453:T:C	Y42H	0.993
12:51240459:G:A	E44K	0.993
12:51241049:T:A	V104E	0.993
12:51241079:C:A	A114D	0.993
12:51241082:G:C	R115T	0.993
12:51241085:T:C	F116S	0.993
12:51242426:G:C	G159R	0.993
12:51242438:G:C	G163R	0.993
12:51242441:G:C	G164R	0.993
12:51241066:T:G	Y110D	0.992

dbSNP variants (sampled 300 via entrez): RS1000698375 (12:51244202 TTTTA>T), RS1001518070 (12:51243616 T>C), RS1001632632 (12:51245258 A>G), RS1001734922 (12:51237808 A>G), RS1001784234 (12:51237427 G>C), RS1001838676 (12:51246490 C>T), RS1002010130 (12:51237922 G>C,T), RS1002012634 (12:51243340 T>C), RS1002116408 (12:51238818 C>T), RS1002124623 (12:51238372 G>C), RS1002620429 (12:51241749 C>G,T), RS1002977029 (12:51241965 A>G), RS1004026867 (12:51246640 A>G,T), RS1004070694 (12:51241643 G>A), RS1004124316 (12:51241403 C>A,T)

Disease associations

OMIM: gene MIM:607431 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

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

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Smoke	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
kojic acid	increases expression	1
sodium arsenite	increases abundance, increases expression	1
cobaltous chloride	decreases expression	1
diallyl trisulfide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Bortezomib	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Vorinostat	decreases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Catechin	affects cotreatment, increases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Cyclosporine	increases expression	1
Uranium Compounds	decreases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	increases expression	1
tert-Butylhydroperoxide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2VP	Abcam HEK293T DAZAP2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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