PHLDA1

Summary

PHLDA1 (pleckstrin homology like domain family A member 1, HGNC:8933) is a protein-coding gene on chromosome 12q21.2, encoding Pleckstrin homology-like domain family A member 1 (Q8WV24). Seems to be involved in regulation of apoptosis.

This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1.

Source: NCBI Gene 22822 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_007350

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8933
Approved symbol	PHLDA1
Name	pleckstrin homology like domain family A member 1
Location	12q21.2
Locus type	gene with protein product
Status	Approved
Aliases	TDAG51, DT1P1B11, PHRIP
Ensembl gene	ENSG00000139289
Ensembl biotype	protein_coding
OMIM	605335
Entrez	22822

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000266671, ENST00000602540

RefSeq mRNA: 1 — MANE Select: NM_007350 NM_007350

CCDS: CCDS31861

Canonical transcript exons

ENST00000266671 — 2 exons

Exon	Start	End
ENSE00001514686	76025447	76030092
ENSE00003733720	76030510	76031776

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 97.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 134.8304 / max 2326.6777, expressed in 1762 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132180	134.7607	1762
132179	0.0698	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	97.85	gold quality
stromal cell of endometrium	CL:0002255	97.74	gold quality
embryo	UBERON:0000922	97.60	gold quality
ganglionic eminence	UBERON:0004023	97.60	gold quality
lower esophagus mucosa	UBERON:0035834	96.98	gold quality
saliva-secreting gland	UBERON:0001044	94.32	gold quality
minor salivary gland	UBERON:0001830	93.91	gold quality
esophagus mucosa	UBERON:0002469	93.41	gold quality
gall bladder	UBERON:0002110	90.69	gold quality
vagina	UBERON:0000996	88.45	gold quality
right lung	UBERON:0002167	88.22	gold quality
tibial nerve	UBERON:0001323	87.46	gold quality
upper lobe of left lung	UBERON:0008952	87.23	gold quality
tonsil	UBERON:0002372	87.13	gold quality
endometrium	UBERON:0001295	87.11	gold quality
smooth muscle tissue	UBERON:0001135	86.74	gold quality
thyroid gland	UBERON:0002046	86.63	gold quality
left lobe of thyroid gland	UBERON:0001120	86.56	gold quality
lung	UBERON:0002048	86.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.12	gold quality
body of stomach	UBERON:0001161	86.02	gold quality
stomach	UBERON:0000945	85.97	gold quality
right lobe of thyroid gland	UBERON:0001119	85.81	gold quality
amygdala	UBERON:0001876	85.68	gold quality
temporal lobe	UBERON:0001871	85.64	gold quality
omental fat pad	UBERON:0010414	85.57	gold quality
islet of Langerhans	UBERON:0000006	85.48	gold quality
adrenal gland	UBERON:0002369	85.48	gold quality
left adrenal gland cortex	UBERON:0035825	85.25	gold quality
left adrenal gland	UBERON:0001234	85.24	gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-GEOD-75140	yes	1610.42
E-CURD-126	yes	1440.88
E-GEOD-93593	yes	885.49
E-MTAB-9154	yes	552.45
E-MTAB-10018	yes	209.93
E-HCAD-10	yes	40.48
E-MTAB-6701	yes	38.11
E-HCAD-5	yes	33.48
E-CURD-122	yes	27.93
E-CURD-114	yes	22.22
E-GEOD-135922	yes	20.32
E-MTAB-8410	yes	17.73
E-CURD-46	yes	16.29
E-MTAB-9388	yes	11.40
E-GEOD-81547	yes	9.37

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ARX, ESR1, EWSR1, FLI1, FOXO3, HSF1

miRNA regulators (miRDB)

187 targeting PHLDA1, 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-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-371B-5P	99.99	75.34	4759
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-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379

Literature-anchored findings (GeneRIF, showing 29)

• The progressive loss of PHLDA1 expression in melanomas may play a role in deregulated cell growth and apoptosis resistance in these tumors. (PMID:12384558)
• expression of TDAG51 in human T-cells does not correlate with activation-induced cell death (PMID:15002043)
• TDAG51 plays an important role in the anti-apoptotic effects of IGF-I. (PMID:15037619)
• TDAG51 locus shows an operon-like organization of two head-to-head oriented transcripts that are inversely regulated in T lymphocytes by a CpG-rich bidirectional promoter. (PMID:15315823)
• Reduced PHLDA1 expression is important in breast cancer progression and could serve as useful prognostic marker of disease outcome. (PMID:17211533)
• TDAG51 in patients with intractable epilepsy was significantly higher when compared with levels in the controls. (PMID:17870236)
• The anti-estrogen ICI 182,780 (1 microM) inhibited PHLDA1 mRNA expression and completely abolished the effect of 10 nM 17beta-estradiol on PHLDA1 expression (P < 0.05), suggesting that PHLDA1 is regulated by estrogen via ER. (PMID:18641796)
• PHLDA1 expression marks the putative epithelial stem cells, downregulates ITGA2 and ITGA6, and contributes to intestinal tumorigenesis (PMID:21558389)
• crucial negative regulator and effector of Aurora A kinase in breast cancer (PMID:21807936)
• the release of Ca(2+) from endoplasmic reticulum stores mediates epithelial-to-mesenchymal transition in human proximal tubular epithelium via the induction of TDAG51 (PMID:22592641)
• PHLDA1 differentiates between desmoplastic trichoepithelioma and morpheaform basal cell carcinoma but shows variable staining in microcystic adnexal carcinoma. (PMID:23398472)
• The follicular stem cell marker PHLDA1 (TDAG51) indicates that most basaloid tumors in nevus sebaceus are basal cell carcinomas and not trichoblastomas. (PMID:23489134)
• PHLDA1 expression is a useful addition in differentiating trichoblastoma and basal cell carcinoma. (PMID:23719479)
• Data show that downregulation of aurora A kinase by the therapeutic antibody is associated with decreased levels of MYCN protein in cytoplasm, and induced expression of PHLDA1 and P53 proteins. (PMID:23962557)
• A role for PHLDA1 as an apoptosis suppressor in oral cancer cells. (PMID:24270013)
• Data suggest that high PHLDA1 expression is controlled through an ER-NFkappaB-miR-181 regulatory axis and may contribute to a poor clinical outcome in patients with ER+ breast tumors by enhancing stem-like properties in these tumors. (PMID:24954507)
• Suggest decreased expression of PHLDA1 may play an important role in tumor progression, and may become a new adjunct biomarker in the prognosis in gastric adenocarcinoma. (PMID:26191222)
• Our study negatively correlates expression of PHLDA1 and Aurora A in IMR-32 cells and sheds new light on functions of PHLDA1 in the neuroblastoma tumor cells, suggesting its role as a pro-apoptotic protein (PMID:27278006)
• that PHLDA1 downregulation in MCF10A cells leads to morphological changes and a more aggressive behavior (PMID:28640659)
• suggest a unique regulatory feature of PHLDA1 to inhibit the ErbB receptor oligomerization process and thereby control the activity of receptor signaling network. (PMID:29233889)
• PHLDA1 is a biomarker for drug response. (PMID:29490281)
• there was no virtual stimulation of autophagy in the 14G2a mAb-treated CHP-134 neuroblastoma cells, we were able to show that PHLDA1 protein positively regulates autophagy and this process exists in a mutually exclusive manner with apoptosis in PHLDA1-silenced CHP-134 cells. (PMID:30027525)
• Data identified PHLDA1 as a novel p53 target with an ability to repress Akt. PHLDA1 has a so-called split PH domain divided into an N-terminal and a C-terminal portions and seems to be responsible for its localization to the plasma membrane and binding to phosphatidylinositol. In addition, PHLDA1 expression analysis suggests that PHLDA1 has a tumor suppressive function in breast and ovarian cancers. (PMID:30207029)
• TDAG51 (T-Cell Death-Associated Gene 51) Is a Key Modulator of Vascular Calcification and Osteogenic Transdifferentiation of Arterial Smooth Muscle Cells. (PMID:32434409)
• Prognostic and predictive value of Pleckstrin homology-like domain, family A family members in breast cancer. (PMID:33179538)
• BMP4 and PHLDA1 are plausible drug-targetable candidate genes for KRAS G12A-, G12D-, and G12V-driven colorectal cancer. (PMID:33982211)
• PHLDA1 promotes glioblastoma cell growth via sustaining the activation state of Ras. (PMID:36107262)
• PHLDA1 is a P53 target gene involved in P53-mediated cell apoptosis. (PMID:37155089)
• Restoration of the ER stress response protein TDAG51 in hepatocytes mitigates NAFLD in mice. (PMID:38237682)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	phlda1	ENSDARG00000099129
mus_musculus	Phlda1	ENSMUSG00000020205
rattus_norvegicus	Phlda1	ENSRNOG00000004019

Paralogs (2): PHLDA3 (ENSG00000174307), PHLDA2 (ENSG00000181649)

Protein

Protein identifiers

Pleckstrin homology-like domain family A member 1 — Q8WV24 (reviewed: Q8WV24)

Alternative names: Apoptosis-associated nuclear protein, Proline- and glutamine-rich protein, Proline- and histidine-rich protein, T-cell death-associated gene 51 protein

All UniProt accessions (2): Q8WV24, R4GND3

UniProt curated annotations — full annotation on UniProt →

Function. Seems to be involved in regulation of apoptosis. May be involved in detachment-mediated programmed cell death. May mediate apoptosis during neuronal development. May be involved in regulation of anti-apoptotic effects of IGF1. May be involved in translational regulation.

Subunit / interactions. Interacts with RPL14, EIF3S7 and PABPC4.

Subcellular location. Cytoplasm. Cytoplasmic vesicle. Nucleus. Nucleolus.

Tissue specificity. Widely expressed with highest levels in pancreas. Strongly expressed by benign melanocytic nevi, and progressively reduced expressed in primary and metastatic melanomas (at protein level).

Induction. Induced by homocysteine and other endoplasmic reticulum stress-inducing reagents. Induced by phorbol ester (TPA)/ionomycin, and stimulation of the T-cell receptor (TCR) complex in T-cells.

RefSeq proteins (1): NP_031376* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR042832	PHLA1/2/3	Family

UniProt features (11 total): region of interest 5, compositionally biased region 3, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WV24-F1	63.21	0.24

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8854521	Interaction between PHLDA1 and AURKA
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis

MSigDB gene sets: 407 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, SWEET_KRAS_ONCOGENIC_SIGNATURE, MCBRYAN_PUBERTAL_TGFB1_TARGETS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_UP, MODULE_66, MODULE_120, YAGUE_PRETUMOR_DRUG_RESISTANCE_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, chr12q21, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS

GO Biological Process (3): apoptotic process (GO:0006915), glycoprotein biosynthetic process (GO:0009101), positive regulation of apoptotic process (GO:0043065)

GO Molecular Function (2): phosphatidylinositol phosphate binding (GO:1901981), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
G2/M Transition	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
cytoplasm	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
phospholipid binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHLDA1	SLC67A1-AS	Q8N1D0	716
PHLDA1	PLEK2	Q9NYT0	665
PHLDA1	PLEK	P08567	660
PHLDA1	IER3	P46695	606
PHLDA1	SPRY2	O43597	574
PHLDA1	SLC67A1	Q96BI1	518
PHLDA1	SPRY4	Q9C004	516
PHLDA1	DUSP5	Q16690	497
PHLDA1	IER2	Q9BTL4	493
PHLDA1	CDKN1C	P49918	474
PHLDA1	FRAT2	O75474	468
PHLDA1	KCNQ1	P51787	467
PHLDA1	DUSP4	Q13115	437
PHLDA1	TOLLIP	Q9H0E2	425
PHLDA1	KRT15	P19012	418

IntAct

23 interactions, top by confidence:

A	B	Type	Score
EGFR	CTNND1	psi-mi:“MI:0914”(association)	0.750
ERBB3	PIK3R2	psi-mi:“MI:0914”(association)	0.700
PHLDA1	MDFI	psi-mi:“MI:0915”(physical association)	0.620
MDFI	PHLDA1	psi-mi:“MI:0915”(physical association)	0.620
ASB6	POLR2D	psi-mi:“MI:0914”(association)	0.530
RPL14	PHLDA1	psi-mi:“MI:0915”(physical association)	0.510
PHLDA1	EIF3D	psi-mi:“MI:0915”(physical association)	0.510
PABPC4	PHLDA1	psi-mi:“MI:0915”(physical association)	0.510
PHLDA1	PABPC4	psi-mi:“MI:0915”(physical association)	0.510
PHLDA1	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
PHLDA1	KRTAP4-12	psi-mi:“MI:0915”(physical association)	0.370
PLSCR1	PHLDA1	psi-mi:“MI:0915”(physical association)	0.370
MAD2L2		psi-mi:“MI:0914”(association)	0.350
RIPK1	TAF4	psi-mi:“MI:0914”(association)	0.350
NPAS1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
EEF1AKMT3	SMCHD1	psi-mi:“MI:0914”(association)	0.350
SULT1C4	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
melB1	PHLDA1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (73): KRTAP4-12 (Two-hybrid), PHLDA1 (Two-hybrid), PHLDA1 (Two-hybrid), PHLDA1 (Affinity Capture-MS), PHLDA1 (Affinity Capture-MS), PHLDA1 (Biochemical Activity), PHLDA1 (Affinity Capture-MS), PHLDA1 (Proximity Label-MS), PHLDA1 (Affinity Capture-MS), PHLDA1 (Two-hybrid), PHLDA1 (Two-hybrid), PHLDA1 (Two-hybrid), PHLDA1 (Two-hybrid), TRIM42 (Two-hybrid), KRTAP6-2 (Two-hybrid)

ESM2 similar proteins: A0A8I5KY20, A4IHR5, A7UKY7, A8IHN8, D3YYI7, G3V9M2, O43559, P39881, P49796, Q13387, Q14DQ1, Q2TAM9, Q32KV8, Q3UPL5, Q4VA45, Q5VUJ9, Q5VV17, Q5XKK7, Q62392, Q673H1, Q6NV74, Q6PJ61, Q6QHK4, Q6UXB0, Q7Z6J2, Q80TE3, Q86SH2, Q8BWU3, Q8CE64, Q8IWP9, Q8N554, Q8NFT6, Q8R4T5, Q8TC41, Q8VCC6, Q8WV24, Q96HA4, Q96IQ9, Q96SQ7, Q96T92

Diamond homologs: A1L2W9, B5XG43, O08969, Q0V987, Q0VC85, Q503L1, Q53GA4, Q5PQT7, Q62392, Q8AW35, Q8WV24, Q9QZA1, Q9WV95, Q9Y5J5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
AURKA	“down-regulates quantity by destabilization”	PHLDA1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

98 predictions. Top by Δscore:

Variant	Effect	Δscore
12:76030504:CCTTA:C	donor_loss	0.9900
12:76030505:CTTAC:C	donor_loss	0.9900
12:76030506:TTAC:T	donor_loss	0.9900
12:76030507:TACCT:T	donor_loss	0.9900
12:76030508:A:AG	donor_loss	0.9900
12:76030093:CT:C	acceptor_loss	0.9800
12:76030094:T:G	acceptor_loss	0.9800
12:76030508:A:AC	donor_gain	0.9800
12:76030509:C:CC	donor_gain	0.9800
12:76029861:T:C	donor_gain	0.9700
12:76030093:C:CC	acceptor_gain	0.9700
12:76029833:A:AC	donor_gain	0.9600
12:76029843:A:C	donor_gain	0.9600
12:76029996:C:CT	donor_gain	0.9600
12:76029997:T:TT	donor_gain	0.9600
12:76030508:AC:A	donor_gain	0.9500
12:76030509:CC:C	donor_gain	0.9500
12:76029878:T:TA	donor_gain	0.9400
12:76029837:CA:C	donor_gain	0.9100
12:76029907:T:TA	donor_gain	0.9100
12:76030509:CCTT:C	donor_gain	0.9100
12:76029836:A:AC	donor_gain	0.8900
12:76029837:C:CC	donor_gain	0.8900
12:76030091:AC:A	acceptor_gain	0.8600
12:76030092:CC:C	acceptor_gain	0.8600
12:76029837:CAGTA:C	donor_gain	0.8500
12:76029838:A:AC	donor_gain	0.8400
12:76029838:A:C	donor_gain	0.8400
12:76029907:TCTTG:T	donor_gain	0.8400
12:76030090:AAC:A	acceptor_gain	0.8200

AlphaMissense

2601 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:76030890:C:A	K284N	1.000
12:76030890:C:G	K284N	1.000
12:76030909:A:G	L278P	1.000
12:76030915:A:C	I276S	1.000
12:76030926:C:A	W272C	1.000
12:76030926:C:G	W272C	1.000
12:76030928:A:G	W272R	1.000
12:76030928:A:T	W272R	1.000
12:76030950:A:C	F264L	1.000
12:76030950:A:T	F264L	1.000
12:76030951:A:C	F264C	1.000
12:76030951:A:G	F264S	1.000
12:76030952:A:G	F264L	1.000
12:76030981:A:T	V254E	1.000
12:76030986:G:C	F252L	1.000
12:76030986:G:T	F252L	1.000
12:76030987:A:G	F252S	1.000
12:76030988:A:G	F252L	1.000
12:76031040:G:C	F234L	1.000
12:76031040:G:T	F234L	1.000
12:76031041:A:G	F234S	1.000
12:76031042:A:G	F234L	1.000
12:76031206:A:G	L179P	1.000
12:76031221:A:G	L174P	1.000
12:76031221:A:T	L174H	1.000
12:76031241:C:A	W167C	1.000
12:76031241:C:G	W167C	1.000
12:76031243:A:G	W167R	1.000
12:76031243:A:T	W167R	1.000
12:76030867:A:T	V292D	0.999

dbSNP variants (sampled 300 via entrez): RS1000247900 (12:76032375 C>G,T), RS1000328085 (12:76030950 A>G), RS1000450902 (12:76026788 T>A,C), RS1000457790 (12:76026826 C>T), RS1000875582 (12:76030757 G>A), RS1000883535 (12:76026444 A>C), RS1001405552 (12:76027956 T>C), RS1001651428 (12:76033745 G>A,T), RS1001825926 (12:76029787 A>T), RS1001910121 (12:76025937 T>C), RS1002043765 (12:76030425 C>A,G), RS1002442632 (12:76029325 A>T), RS1002445002 (12:76026142 C>A,T), RS1002643417 (12:76029109 A>G), RS1002832360 (12:76031016 A>G)

Disease associations

OMIM: gene MIM:605335 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST002041_7	Blood trace element (Cu levels)	3.000000e-06
GCST003372_51	Glomerular filtration rate (creatinine)	6.000000e-07
GCST005331_7	CSF tryptophan concentration in tuberculous meningitis	6.000000e-06
GCST005984_58	Glomerular filtration rate	1.000000e-11
GCST005985_38	Creatinine levels	1.000000e-12
GCST005986_15	Blood urea nitrogen levels	6.000000e-09
GCST006061_120	Atrial fibrillation	4.000000e-10
GCST006061_121	Atrial fibrillation	8.000000e-09
GCST006414_13	Atrial fibrillation	5.000000e-09
GCST006434_2	Systolic blood pressure x alcohol consumption interaction (2df test)	2.000000e-09
GCST007344_10	Estimated glomerular filtration rate	1.000000e-08
GCST007830_5	Anti-thyroid peroxidase (TPOAb) levels in Hashimoto’s thyroiditis	4.000000e-06
GCST008058_118	Estimated glomerular filtration rate	7.000000e-17
GCST008060_1	Estimated glomerular filtration rate	4.000000e-10
GCST008062_27	Blood urea nitrogen levels	2.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005267	serum copper measurement
EFO:0008534	tryptophan measurement
EFO:0004329	alcohol drinking
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Estradiol	decreases expression, increases expression, affects expression, affects cotreatment	6
Cisplatin	increases reaction, increases expression, affects response to substance, affects expression, decreases expression	5
Tetrachlorodibenzodioxin	affects expression, decreases expression, increases expression	5
methylmercuric chloride	increases expression, affects cotreatment	4
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression	4
Benzo(a)pyrene	increases expression	4
Tretinoin	increases expression, decreases expression	4
Aflatoxin B1	affects expression, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Vorinostat	affects cotreatment, increases expression	3
Formaldehyde	decreases expression, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
Cyclosporine	decreases expression, increases expression	3
Asbestos, Crocidolite	affects expression, increases expression	3
Particulate Matter	increases abundance, increases expression, affects cotreatment, affects expression	3
hydroxyhydroquinone	increases expression	2
cobaltous chloride	decreases expression, increases expression	2
nickel sulfate	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	affects cotreatment, increases expression	2
Temozolomide	affects response to substance, increases expression	2
Decitabine	affects expression	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	increases expression, increases abundance	2
Doxorubicin	decreases expression, increases expression	2
Paraquat	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	affects cotreatment, decreases expression, increases expression	2

Clinical trials (associated diseases)

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