ULBP1

Summary

ULBP1 (UL16 binding protein 1, HGNC:14893) is a protein-coding gene on chromosome 6q25.1, encoding UL16-binding protein 1 (Q9BZM6). Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.

The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 80329 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_025218

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14893
Approved symbol	ULBP1
Name	UL16 binding protein 1
Location	6q25.1
Locus type	gene with protein product
Status	Approved
Aliases	RAET1I
Ensembl gene	ENSG00000111981
Ensembl biotype	protein_coding
OMIM	605697
Entrez	80329

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000229708, ENST00000954265

RefSeq mRNA: 1 — MANE Select: NM_025218 NM_025218

CCDS: CCDS5223

Canonical transcript exons

ENST00000229708 — 5 exons

Exon	Start	End
ENSE00000896361	149963943	149964134
ENSE00000896362	149970016	149970147
ENSE00001403981	149971369	149973715
ENSE00002440361	149968607	149968870
ENSE00002467887	149969085	149969360

Expression profiles

Bgee: expression breadth ubiquitous, 111 present calls, max score 76.88.

FANTOM5 (CAGE): breadth broad, TPM avg 3.8429 / max 222.6965, expressed in 899 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70506	2.4645	630
70504	0.9506	444
70505	0.4278	231

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	76.88	gold quality
pancreatic ductal cell	CL:0002079	73.02	silver quality
right lung	UBERON:0002167	70.04	gold quality
cerebellar hemisphere	UBERON:0002245	68.06	gold quality
cerebellar cortex	UBERON:0002129	68.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	66.09	gold quality
cortical plate	UBERON:0005343	65.98	gold quality
cerebellum	UBERON:0002037	65.69	gold quality
sperm	CL:0000019	65.06	gold quality
male germ cell	CL:0000015	63.97	gold quality
upper lobe of left lung	UBERON:0008952	62.54	gold quality
islet of Langerhans	UBERON:0000006	61.53	gold quality
upper lobe of lung	UBERON:0008948	61.00	gold quality
ventricular zone	UBERON:0003053	56.01	gold quality
ganglionic eminence	UBERON:0004023	55.47	gold quality
lung	UBERON:0002048	54.98	gold quality
right testis	UBERON:0004534	53.10	gold quality
ileal mucosa	UBERON:0000331	52.36	gold quality
oocyte	CL:0000023	52.35	gold quality
deltoid	UBERON:0001476	52.27	gold quality
embryo	UBERON:0000922	52.20	gold quality
parotid gland	UBERON:0001831	52.20	gold quality
epithelium of nasopharynx	UBERON:0001951	52.00	gold quality
testis	UBERON:0000473	50.95	gold quality
quadriceps femoris	UBERON:0001377	50.51	gold quality
left testis	UBERON:0004533	49.68	gold quality
vastus lateralis	UBERON:0001379	49.58	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-CURD-10	no	115.62
E-ANND-3	no	2.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HDAC3, SP1, SP3, TFAP2A

miRNA regulators (miRDB)

89 targeting ULBP1, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-369-3P	99.85	70.52	2264

Literature-anchored findings (GeneRIF, showing 22)

• ULBP1 binds to the NKG2D receptor and activates multiple signaling pathways in primary natural killer cells. (PMID:11777960)
• The NKG2D ligand ULBP1 is up-regulated and readily detectable intracellularly in the endoplasmic reticulum of human cytomegalovirus-infected fibroblasts, where it colocalizes with viral protein UL16. (PMID:12847260)
• ULBPs and MICA are expressed in lipid rafts at the cell surface of NK and T cells. (PMID:15051759)
• ULBP1 is a human ligand of the NKG2D receptor (PMID:16901903)
• As NKG2D ligand, ULBP1 are expressed on immature dendritic cells and plays an important role in the cytotoxic effect of NK cells against iDC. (PMID:18394338)
• The selective induction of ULBP1 expression by proteasome inhibitor drugs, along with variable NKG2D ligand expression by human tumor cells, indicates that NKG2D ligand genes are independently regulated. (PMID:19414815)
• Data show that the protease NS3/4A of HCV down-regulates ULBP1 expression by inhibiting the transcription of ULBP1. (PMID:19500498)
• Vpr specifically induces surface expression of the unique-long 16 binding proteins (ULBP)-1 and ULBP-2, but not ULBP-3 (PMID:19798433)
• Data show that ULBP1, TFR2 and IFITM1 were associated with increased susceptibility to Vgamma9Vdelta2 T-cell cytotoxicity. (PMID:20220060)
• These results identify Mult1 as a target for the MARCH family of E3 ligases (PMID:20870941)
• recombinant ULBP1 fused to CD45 caused a reduction in cytotoxicity and degranulation by NK cells, implying a role for receptor ligand distribution in the activation of NK cell responses (PMID:21464092)
• recurrence-free survival of patients with ULBP1-negative hepatocellular carcinoma (HCC) was significantly shorter than that of patients with ULBP1-positive HCC (PMID:21756848)
• Findings define the involvement of p53 in the regulation of ULBP1 and ULBP2 which enhance NK cell-mediated target recognition. (PMID:21764762)
• This study provides for the first time, the c-Myc dependent regulation of NKG2D ligands, ULBP1/2/3 in acute myeloid leukemia. (PMID:24677544)
• expression determines intrinsic acute myeloid leukemia susceptibility to allogeneic V[gamma]9V[delta]2 T cells (PMID:24911793)
• ATF4 drives ULBP1 gene expression in cancer cell lines, while the RNA-binding protein RBM4 supports ULBP1 expression by suppressing a novel alternatively spliced isoform of ULBP1 mRNA. (PMID:26565589)
• we show that Simian Virus 40 (SV40)…evades NK cell attack through the down regulation of…ULBP1 (PMID:26992229)
• Epithelial-mesenchymal transition may be involved in the immune evasion of circulating gastric tumor cells via downregulation of ULBP1. (PMID:32077634)
• UL16-Binding Protein 1 Induced HTR-8/SVneo Autophagy via NF-kappaB Suppression Mediated by TNF-alpha Secreted through uNK Cells. (PMID:32626772)
• Human Cytomegalovirus UL24 and UL43 Cooperate to Modulate the Expression of Immunoregulatory UL16 Binding Protein 1. (PMID:36179070)
• Knockdown of the UL-16 binding protein 1 promotes osteoblast differentiation of human mesenchymal stem cells by activating the SMAD2/3 pathway. (PMID:38481217)
• Human esophageal cancer stem-like cells escape the cytotoxicity of natural killer cells via down-regulation of ULBP-1. (PMID:39103915)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	mhc1laa	ENSDARG00000016056
danio_rerio	mhc1lba	ENSDARG00000016227
danio_rerio	mhc1lda	ENSDARG00000023203
danio_rerio		ENSDARG00000051710
danio_rerio		ENSDARG00000051711
danio_rerio	mhc1lfa	ENSDARG00000051712
danio_rerio	mhc1lga	ENSDARG00000051713
danio_rerio	mhc1lca	ENSDARG00000055813
danio_rerio	mhc1lja	ENSDARG00000096830
danio_rerio	si:dkey-52p2.5	ENSDARG00000096940
danio_rerio	mhc1lla	ENSDARG00000096977
mus_musculus	Ulbp1	ENSMUSG00000079685

Paralogs (22): HFE (ENSG00000010704), FCGRT (ENSG00000104870), ULBP2 (ENSG00000131015), ULBP3 (ENSG00000131019), MR1 (ENSG00000153029), RAET1L (ENSG00000155918), CD1D (ENSG00000158473), CD1A (ENSG00000158477), CD1C (ENSG00000158481), CD1B (ENSG00000158485), CD1E (ENSG00000158488), AZGP1 (ENSG00000160862), RAET1E (ENSG00000164520), RAET1G (ENSG00000203722), MICB (ENSG00000204516), MICA (ENSG00000204520), HLA-C (ENSG00000204525), HLA-E (ENSG00000204592), HLA-G (ENSG00000204632), HLA-F (ENSG00000204642), HLA-A (ENSG00000206503), HLA-B (ENSG00000234745)

Protein

Protein identifiers

UL16-binding protein 1 — Q9BZM6 (reviewed: Q9BZM6)

Alternative names: ALCAN-beta, NKG2D ligand 1, Retinoic acid early transcript 1I

All UniProt accessions (1): Q9BZM6

UniProt curated annotations — full annotation on UniProt →

Function. Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity.

Subunit / interactions. Interacts with KLRK1/NKG2D. Does not bind to beta2-microglobulin. (Microbial infection) In CMV-infected cells, interacts with the viral glycoprotein UL16; this interaction causes ULBP1 retention in the endoplasmic reticulum and cis-Golgi and prevents binding to and activation of KLRK1/NKG2D, providing CMV with an immune evasion mechanism.

Subcellular location. Cell membrane. Endoplasmic reticulum.

Tissue specificity. Expressed in T-cells, B-cells, erythroleukemia cell lines and in a wide range of tissues including heart, brain, lung, liver, testis, lymph node, thymus, tonsil and bone marrow. Also found in fetal heart, brain, lung and liver.

Miscellaneous. UL16-binding proteins (ULBPs) are unusual members of the extended MHC class I superfamily. They do not contain the alpha 3 domain and lack a transmembrane domain.

Similarity. Belongs to the MHC class I family.

RefSeq proteins (1): NP_079494* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011161	MHC_I-like_Ag-recog	Domain
IPR011162	MHC_I/II-like_Ag-recog	Homologous_superfamily
IPR037055	MHC_I-like_Ag-recog_sf	Homologous_superfamily
IPR050208	MHC_class-I_related	Family

Pfam: PF00129

UniProt features (10 total): region of interest 2, disulfide bond 2, signal peptide 1, chain 1, propeptide 1, lipid moiety-binding region 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZM6-F1	81.81	0.53

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): 216

Disulfide bonds (2): 50–66, 127–190

Glycosylation sites (1): 82

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

MSigDB gene sets: 131 (showing top): GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, BENPORATH_ES_WITH_H3K27ME3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, PEREZ_TP63_TARGETS, GOCC_CELL_SURFACE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_VIA_MHC_CLASS_IB, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY, chr6q25, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY

GO Biological Process (8): positive regulation of T cell mediated cytotoxicity (GO:0001916), antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476), antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent (GO:0002486), immune response (GO:0006955), natural killer cell activation (GO:0030101), natural killer cell mediated cytotoxicity (GO:0042267), immune system process (GO:0002376), signal transduction (GO:0007165)

GO Molecular Function (3): natural killer cell lectin-like receptor binding (GO:0046703), receptor ligand activity (GO:0048018), protein binding (GO:0005515)

GO Cellular Component (7): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
signaling receptor binding	2
cytoplasm	2
membrane	2
positive regulation of leukocyte mediated cytotoxicity	1
T cell mediated cytotoxicity	1
regulation of T cell mediated cytotoxicity	1
positive regulation of T cell mediated immunity	1
antigen processing and presentation of peptide antigen via MHC class Ib	1
antigen processing and presentation of endogenous peptide antigen	1
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway	1
immune system process	1
response to stimulus	1
lymphocyte activation	1
leukocyte mediated cytotoxicity	1
natural killer cell mediated immunity	1
biological_process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signal transduction	1
signaling receptor activator activity	1
binding	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

666 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ULBP1	KLRK1	P26718	999
ULBP1	MICB	P79525	963
ULBP1	CD226	Q15762	910
ULBP1	NCR1	O76036	904
ULBP1	HCST	Q9UBK5	864
ULBP1	NCR3	O14931	823
ULBP1	NCR2	O95944	803
ULBP1	LILRB1	Q8NHL6	792
ULBP1	MICA	P79506	750
ULBP1	KLRD1	Q13241	742
ULBP1	NECTIN2	Q92692	740
ULBP1	CCR8	P51685	725
ULBP1	PVR	P15151	721
ULBP1	CD48	P09326	707
ULBP1	B2M	P01884	634

IntAct

16 interactions, top by confidence:

A	B	Type	Score
TNFSF8	TOR1B	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
SLC39A5	TMEM223	psi-mi:“MI:0914”(association)	0.530
ULBP1	IGLL5	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
KLRK1	ULBP1	psi-mi:“MI:0407”(direct interaction)	0.440
TNFSF8	NME4	psi-mi:“MI:0914”(association)	0.350
CEACAM21	GAPDHS	psi-mi:“MI:0914”(association)	0.350
RHCG	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC16A10	STXBP3	psi-mi:“MI:0914”(association)	0.350
SLC2A1	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC9A9	PODXL	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): ULBP3 (Affinity Capture-MS), GPC3 (Affinity Capture-MS), ULBP1 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), CPM (Affinity Capture-MS), ULBP1 (Affinity Capture-MS), ULBP1 (Synthetic Lethality), GPC3 (Affinity Capture-MS), ULBP1 (Affinity Capture-MS), IGLL5 (Affinity Capture-MS), THEM4 (Affinity Capture-MS), CPM (Affinity Capture-MS), ULBP3 (Affinity Capture-MS), ULBP1 (Affinity Capture-MS), ULBP3 (Co-fractionation)

ESM2 similar proteins: A0A0G2K7V7, C1ITJ8, O08602, O08603, O08604, O19477, O35799, O97945, P01572, P01573, P05001, P05011, P06799, P07349, P07350, P07351, P09235, P14431, P14432, P35849, P43626, P43627, P43628, P43632, P60018, P70387, P81255, Q29980, Q29983, Q30201, Q5VY80, Q60I18, Q61716, Q6H3X3, Q80SS5, Q80SU4, Q8HWB0, Q8HWE5, Q8HWE7, Q8N109

Diamond homologs: Q5VY80, Q6H3X3, Q8TD07, Q9BZM4, Q9BZM5, Q9BZM6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	8
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

621 predictions. Top by Δscore:

Variant	Effect	Δscore
6:149968601:CCACA:C	acceptor_loss	1.0000
6:149968602:CACA:C	acceptor_loss	1.0000
6:149968604:CA:C	acceptor_loss	1.0000
6:149968605:A:AG	acceptor_gain	1.0000
6:149968605:A:G	acceptor_loss	1.0000
6:149968606:G:A	acceptor_loss	1.0000
6:149968606:G:GA	acceptor_gain	1.0000
6:149968606:GAC:G	acceptor_gain	1.0000
6:149968606:GACA:G	acceptor_gain	1.0000
6:149968606:GACAC:G	acceptor_gain	1.0000
6:149970128:A:T	donor_gain	1.0000
6:149965415:G:GT	donor_gain	0.9900
6:149965415:G:T	donor_gain	0.9900
6:149965439:G:GT	donor_gain	0.9900
6:149968603:A:AG	acceptor_gain	0.9900
6:149968604:C:G	acceptor_gain	0.9900
6:149968606:GA:G	acceptor_gain	0.9900
6:149965340:GCAC:G	donor_gain	0.9800
6:149965341:C:T	donor_gain	0.9800
6:149969361:G:GG	donor_gain	0.9800
6:149970122:A:G	donor_gain	0.9700
6:149965426:G:GT	donor_gain	0.9600
6:149965448:G:GT	donor_gain	0.9600
6:149965440:A:T	donor_gain	0.9500
6:149965449:A:T	donor_gain	0.9500
6:149969202:GAAA:G	acceptor_gain	0.9500
6:149969360:AG:A	donor_loss	0.9500
6:149969361:GTA:G	donor_loss	0.9500
6:149969362:T:TC	donor_loss	0.9500
6:149969363:AAGT:A	donor_loss	0.9500

AlphaMissense

1614 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:149969156:T:C	F141L	0.950
6:149969158:C:A	F141L	0.950
6:149969158:C:G	F141L	0.950
6:149968702:T:C	F61L	0.946
6:149968704:T:A	F61L	0.946
6:149968704:T:G	F61L	0.946
6:149969324:T:C	F197L	0.934
6:149969326:T:A	F197L	0.934
6:149969326:T:G	F197L	0.934
6:149969177:T:C	F148L	0.924
6:149969179:C:A	F148L	0.924
6:149969179:C:G	F148L	0.924
6:149969251:G:C	W172C	0.924
6:149969251:G:T	W172C	0.924
6:149969249:T:A	W172R	0.922
6:149969249:T:C	W172R	0.922
6:149969157:T:C	F141S	0.916
6:149969186:T:C	F151L	0.909
6:149969188:T:A	F151L	0.909
6:149969188:T:G	F151L	0.909
6:149969207:T:A	W158R	0.905
6:149969207:T:C	W158R	0.905
6:149969150:T:A	W139R	0.896
6:149969150:T:C	W139R	0.896
6:149968782:G:C	W87C	0.885
6:149968782:G:T	W87C	0.885
6:149969152:G:C	W139C	0.882
6:149969152:G:T	W139C	0.882
6:149969109:T:C	M125T	0.878
6:149968630:T:C	F37L	0.876

dbSNP variants (sampled 300 via entrez): RS1000192900 (6:149969843 A>C,G), RS1000641477 (6:149966442 G>A,C), RS1001408133 (6:149962429 A>G,T), RS1001750842 (6:149971651 G>A), RS1002409124 (6:149963553 G>C), RS1002440232 (6:149963767 A>C), RS1002485036 (6:149972983 C>T), RS1002638685 (6:149968514 G>A,C), RS1002976736 (6:149968322 T>A), RS1003409212 (6:149964499 G>A,T), RS1003491871 (6:149974191 G>T), RS1003753801 (6:149973939 C>T), RS1004418964 (6:149965837 A>C), RS1004427572 (6:149968298 T>C), RS1004651490 (6:149970598 G>A)

Disease associations

OMIM: gene MIM:605697 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000823_7	Radiation response	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression, increases expression	3
arsenite	affects binding, decreases reaction, increases methylation	2
sodium arsenite	decreases expression, increases expression	2
rottlerin	increases expression, affects binding, decreases reaction	2
Erlotinib Hydrochloride	affects binding, decreases reaction, increases expression	2
Gefitinib	affects binding, decreases reaction, increases expression	2
Arsenic Trioxide	increases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Tetradecanoylphorbol Acetate	affects binding, decreases reaction, increases expression	2
Tobacco Smoke Pollution	increases expression	2
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
butyraldehyde	increases expression	1
tetrabromobisphenol A	increases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	increases expression	1
pentanal	increases expression	1
mithramycin A	increases expression	1
Go 6976	increases expression	1
bisindolylmaleimide	increases expression	1
chloropicrin	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression, affects cotreatment	1
licochalcone B	increases expression	1
incobotulinumtoxinA	decreases expression	1
prothioconazole	increases expression	1
NSC668394	increases expression	1
demycarosyl-3D-digitoxosylmithramycin SK	decreases expression	1

Clinical trials (associated diseases)

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