SSBP2

Summary

SSBP2 (single stranded DNA binding protein 2, HGNC:15831) is a protein-coding gene on chromosome 5q14.1, encoding Single-stranded DNA-binding protein 2 (P81877).

This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients.

Source: NCBI Gene 23635 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_001256732

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15831
Approved symbol	SSBP2
Name	single stranded DNA binding protein 2
Location	5q14.1
Locus type	gene with protein product
Status	Approved
Aliases	HSPC116
Ensembl gene	ENSG00000145687
Ensembl biotype	protein_coding
OMIM	607389
Entrez	23635

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 30 protein_coding, 7 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000320672, ENST00000504136, ENST00000504174, ENST00000504985, ENST00000505980, ENST00000506960, ENST00000507472, ENST00000507655, ENST00000507968, ENST00000508912, ENST00000509013, ENST00000509053, ENST00000509743, ENST00000510060, ENST00000512098, ENST00000512923, ENST00000513785, ENST00000514493, ENST00000515395, ENST00000615665, ENST00000855145, ENST00000855146, ENST00000855147, ENST00000855148, ENST00000855149, ENST00000855150, ENST00000855151, ENST00000855152, ENST00000855153, ENST00000855154, ENST00000916079, ENST00000916080, ENST00000916081, ENST00000965578, ENST00000965580, ENST00000965581, ENST00000965582, ENST00000965583, ENST00000965584, ENST00000965585, ENST00000965586

RefSeq mRNA: 42 — MANE Select: NM_001256732 NM_001256732, NM_001256733, NM_001256734, NM_001256735, NM_001256736, NM_001345886, NM_001394350, NM_001394351, NM_001394352, NM_001400340, NM_001400341, NM_001400342, NM_001400343, NM_001400344, NM_001400345, NM_001400346, NM_001400347, NM_001400348, NM_001400349, NM_001400350, NM_001400351, NM_001400352, NM_001400353, NM_001400354, NM_001400355, NM_001400356, NM_001400357, NM_001400358, NM_001400359, NM_001400360, NM_001400361, NM_001400362, NM_001400363, NM_001400364, NM_001400366, NM_001400367, NM_001400368, NM_001400369, NM_001400371, NM_001400374, NM_001400375, NM_012446

CCDS: CCDS4056, CCDS58960, CCDS58961, CCDS58962, CCDS58963, CCDS75268

Canonical transcript exons

ENST00000615665 — 17 exons

Exon	Start	End
ENSE00001483976	81466974	81467065
ENSE00001815474	81412804	81420533
ENSE00002086003	81750981	81751097
ENSE00003521621	81446868	81446922
ENSE00003538191	81437430	81437458
ENSE00003589467	81461055	81461103
ENSE00003590625	81473700	81473770
ENSE00003592864	81474496	81474562
ENSE00003601503	81440558	81440636
ENSE00003605085	81615473	81615557
ENSE00003628423	81489250	81489309
ENSE00003656519	81428585	81428683
ENSE00003658672	81636557	81636618
ENSE00003660636	81650267	81650339
ENSE00003660947	81448790	81448825
ENSE00003666808	81513628	81513717
ENSE00003679012	81442653	81442723

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.9688 / max 1134.1215, expressed in 1738 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62334	31.0600	1716
62335	2.2680	990
62336	1.3847	767
62337	0.2561	113

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.54	gold quality
ventricular zone	UBERON:0003053	97.57	gold quality
ganglionic eminence	UBERON:0004023	97.24	gold quality
calcaneal tendon	UBERON:0003701	96.83	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.13	gold quality
lower esophagus	UBERON:0013473	96.12	gold quality
embryo	UBERON:0000922	95.86	gold quality
popliteal artery	UBERON:0002250	95.84	gold quality
tibial artery	UBERON:0007610	95.82	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.76	gold quality
mucosa of stomach	UBERON:0001199	95.34	gold quality
tendon	UBERON:0000043	95.18	gold quality
descending thoracic aorta	UBERON:0002345	95.16	gold quality
aorta	UBERON:0000947	95.00	gold quality
right coronary artery	UBERON:0001625	94.92	gold quality
endocervix	UBERON:0000458	94.82	gold quality
left ovary	UBERON:0002119	94.74	gold quality
colonic epithelium	UBERON:0000397	94.72	gold quality
right ovary	UBERON:0002118	94.60	gold quality
left coronary artery	UBERON:0001626	94.56	gold quality
tibial nerve	UBERON:0001323	94.55	gold quality
thymus	UBERON:0002370	94.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.40	gold quality
right uterine tube	UBERON:0001302	94.33	gold quality
body of uterus	UBERON:0009853	94.30	gold quality
bronchial epithelial cell	CL:0002328	94.09	gold quality
islet of Langerhans	UBERON:0000006	94.08	gold quality
coronary artery	UBERON:0001621	94.02	gold quality
esophagus	UBERON:0001043	93.97	gold quality
pigmented layer of retina	UBERON:0001782	93.97	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	53.01
E-CURD-112	yes	42.07
E-ANND-3	yes	17.49
E-MTAB-9067	yes	16.17
E-CURD-119	yes	12.14
E-CURD-122	yes	11.90
E-CURD-10	no	474.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

228 targeting SSBP2, 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-3924	100.00	72.09	2394
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593

Literature-anchored findings (GeneRIF, showing 14)

• Member of a closely related, evolutionarily conserved, and ubiquitously expressed gene family, potential tumor suppressor (PMID:12079286)
• Our findings are consistent with human SSBP2 being a novel regulator of hematopoietic growth and differentiation, whose loss confers a block in differentiation advantage to myeloid leukemic cells. (PMID:15782145)
• Results suggest that subverting SSBP2 function by oncoprotein E1B55K may contribute to cell transformation by viral oncoproteins. (PMID:17311003)
• SSBP2 inhibits prostate cancer cell proliferation and seems to represent a novel prostate cancer-specific DNA marker, especially in high stages of human prostate cancer. (PMID:18559593)
• SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) is associated with pre-B acute lymphocytic leukemia. (PMID:18618714)
• ZNF198-FGFR1 is associated with phosphorylation of several proteins including SSBP2, ABL, FLJ14235, CALM and TRIM4 proteins. (PMID:19658100)
• results indicate that cigarette smoking is a cause of SSBP2 promoter methylation and that SSBP2 harbors a tumor suppressive role in ESCC through inhibition of the Wnt signaling pathway (PMID:20658532)
• The minor allele of SSBP2 SNP rs17296479 and the increased tumor expression of SSBP2 were statistically significantly associated with poorer overall survival among glioblastoma patients (PMID:22472174)
• SSBP-2-positive hepatocellular carcinomas were significantly associated with aggressive phenotypes and poor clinical outcome. (PMID:30541499)
• This study reports a crystal structure of the highly conserved N-terminal LUFS domain of human SSBP2 at 1.52 A resolution. (PMID:30676665)
• The structural details of the interaction of single-stranded DNA binding protein hSSB2 (NABP1/OBFC2A) with UV-damaged DNA. (PMID:31443132)
• CcRCC with low SSBP2 expression was associated with adverse clinicopathological characteristics and poor patient outcomes. (PMID:31882468)
• Single-stranded DNA binding proteins (SSBPs) interact specifically with the LDB/Chip conserved domain (LCCD) of LDB proteins and stabilize LDBs by preventing their proteasomal degradation, thus promoting their functions in gene regulation. (PMID:31892537)
• SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic leukemia with diverse genetic presentation and variable outcome. (PMID:33197935)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	ssbp2a	ENSDARG00000057395
danio_rerio	ssbp2b	ENSDARG00000099727
mus_musculus	Ssbp2	ENSMUSG00000003992
rattus_norvegicus	Ssbp2	ENSRNOG00000016213
drosophila_melanogaster	Ssdp	FBGN0011481
caenorhabditis_elegans		WBGENE00012990
caenorhabditis_elegans		WBGENE00013152

Paralogs (2): SSBP4 (ENSG00000130511), SSBP3 (ENSG00000157216)

Protein

Protein identifiers

Single-stranded DNA-binding protein 2 — P81877 (reviewed: P81877)

Alternative names: Sequence-specific single-stranded-DNA-binding protein 2

All UniProt accessions (5): A0A087X159, D6RAC5, P81877, H0Y9M5, H0Y9V4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Isoforms (5)

UniProt ID	Names	Canonical?
P81877-1	1	yes
P81877-2	2
P81877-3	3
P81877-4	4
P81877-5	5

RefSeq proteins (42): NP_001243661, NP_001243662, NP_001243663, NP_001243664, NP_001243665, NP_001332815, NP_001381279, NP_001381280, NP_001381281, NP_001387269, NP_001387270, NP_001387271, NP_001387272, NP_001387273, NP_001387274, NP_001387275, NP_001387276, NP_001387277, NP_001387278, NP_001387279, NP_001387280, NP_001387281, NP_001387282, NP_001387283, NP_001387284, NP_001387285, NP_001387286, NP_001387287, NP_001387288, NP_001387289, NP_001387290, NP_001387291, NP_001387292, NP_001387293, NP_001387295, NP_001387296, NP_001387297, NP_001387298, NP_001387300, NP_001387303, NP_001387304, NP_036578 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006594	LisH	Conserved_site
IPR008116	SSDP_DNA-bd	Family

Pfam: PF04503

UniProt features (29 total): sequence conflict 6, compositionally biased region 6, splice variant 4, helix 4, modified residue 3, region of interest 2, chain 1, domain 1, strand 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6IWV	X-RAY DIFFRACTION	1.52
8HIB	X-RAY DIFFRACTION	2.45
6TYD	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P81877-F1	55.83	0.15

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 (3): 6, 321, 333

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 424 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, FISCHER_G1_S_CELL_CYCLE, MODULE_493, AAAYRNCTG_UNKNOWN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_UP, PUJANA_CHEK2_PCC_NETWORK, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, MARTINEZ_RB1_TARGETS_DN, DOANE_RESPONSE_TO_ANDROGEN_DN, MORI_SMALL_PRE_BII_LYMPHOCYTE_DN, LIAO_METASTASIS, SCHLOSSER_SERUM_RESPONSE_DN, AACTTT_UNKNOWN

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (3): single-stranded DNA binding (GO:0003697), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
DNA binding	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

548 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SSBP2	INIP	Q9NRY2	890
SSBP2	SSBP1	Q04837	871
SSBP2	INTS3	Q68E01	825
SSBP2	LDB1	Q86U70	803
SSBP2	NBN	O60934	761
SSBP2	LDB2	O43679	741
SSBP2	RBBP8	Q99708	724
SSBP2	TAL1	P17542	602
SSBP2	LMO2	P25791	594
SSBP2	LYL1	P12980	561
SSBP2	INTS11	Q5TA45	549
SSBP2	JAK2	O60674	538
SSBP2	ZFYVE16	Q7Z3T8	512
SSBP2	ADAMTS20	P59510	466
SSBP2	TP53	P04637	462

IntAct

68 interactions, top by confidence:

A	B	Type	Score
LMO1	ZBTB43	psi-mi:“MI:0914”(association)	0.830
PYGO1	BCL9	psi-mi:“MI:0914”(association)	0.700
LDB1	SSBP2	psi-mi:“MI:0915”(physical association)	0.660
SSBP2	FPR1	psi-mi:“MI:0915”(physical association)	0.560
RRD1	SSBP2	psi-mi:“MI:0915”(physical association)	0.560
FPR1	SSBP2	psi-mi:“MI:0915”(physical association)	0.560
SSBP2	RRD1	psi-mi:“MI:0915”(physical association)	0.560
TAL1	KDM1A	psi-mi:“MI:0914”(association)	0.560
LMO3	ZBTB43	psi-mi:“MI:0914”(association)	0.550
SSBP2	IL36RN	psi-mi:“MI:0915”(physical association)	0.550
SSBP2	CLEC18A	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
CAMK2A	SSBP2	psi-mi:“MI:0914”(association)	0.510
DLG1	SSBP2	psi-mi:“MI:0407”(direct interaction)	0.440
SSBP2	CDK6	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
M	SSBP2	psi-mi:“MI:0915”(physical association)	0.370
LDB2	SSBP2	psi-mi:“MI:0915”(physical association)	0.370
SSBP2	PA	psi-mi:“MI:0915”(physical association)	0.370
SSBP2	TOM1	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	SSBP2	psi-mi:“MI:0915”(physical association)	0.370
SSBP2	PIN1	psi-mi:“MI:0915”(physical association)	0.370
SSBP3	LHX2	psi-mi:“MI:0914”(association)	0.350
LMX1B	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (159): SSBP2 (Two-hybrid), SSBP2 (Affinity Capture-MS), SSBP2 (Affinity Capture-MS), LDB1 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL1 (Affinity Capture-MS), SSBP4 (Affinity Capture-MS), SSBP3 (Affinity Capture-MS), CLEC18A (Affinity Capture-MS), LMO4 (Affinity Capture-MS), LHX4 (Affinity Capture-MS), SSBP2 (Affinity Capture-MS), SSBP2 (Two-hybrid), SSBP2 (Two-hybrid), IL36RN (Two-hybrid)

ESM2 similar proteins: A2AJK6, A2ICN5, A5D7F6, B2C6R6, B2RWS6, E9Q7M2, O00512, O75157, P34545, P45481, P46936, P62500, P62501, P81877, Q06A37, Q09472, Q14686, Q15714, Q17BA4, Q21955, Q29A33, Q2MJT0, Q4R4H5, Q4V3C1, Q5R4H1, Q61L47, Q63627, Q67FY2, Q67FY3, Q6DDH6, Q6JHU9, Q6SR68, Q6SR69, Q6SZ65, Q7TSH6, Q7ZUK7, Q86UU0, Q8CHI8, Q8SWR8, Q91012

Diamond homologs: B7FAS6, P81877, Q98948, Q9BWG4, Q9BWW4, Q9CYZ8, Q9D032, Q9R050, A0AUS0, A1CUD6, A6ZR64, A7RHG8, A7YY75, B2AEZ5, B3LRM5, B5VHN4, B6GZD3, B6HP56, B6QC06, B8N9H4, B9WD30, C0S902, C1BK83, C1GB49, C4JPW9, C7GS77, C8Z7C7, D5GBI7, O14186, O22212, O35828, O48847, O74184, P0CS38, P0CS39, P40068, P74598, P87314, Q05BV3, Q06440

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 65 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
RUNX1 regulates transcription of genes involved in differentiation of HSCs	5	11.3×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
somatic stem cell population maintenance	5	22.1×	5e-04
neuron differentiation	9	16.1×	1e-06
transcription by RNA polymerase II	7	8.8×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5058 predictions. Top by Δscore:

Variant	Effect	Δscore
5:81428584:CA:C	donor_gain	1.0000
5:81437426:TCA:T	donor_loss	1.0000
5:81437427:CA:C	donor_loss	1.0000
5:81437428:A:AC	donor_gain	1.0000
5:81437428:AC:A	donor_gain	1.0000
5:81437429:C:CC	donor_gain	1.0000
5:81437429:CC:C	donor_gain	1.0000
5:81437456:AGC:A	acceptor_gain	1.0000
5:81437459:C:CC	acceptor_gain	1.0000
5:81437459:CT:C	acceptor_loss	1.0000
5:81437466:A:T	acceptor_gain	1.0000
5:81437469:A:C	acceptor_gain	1.0000
5:81440637:C:CC	acceptor_gain	1.0000
5:81442651:A:AC	donor_gain	1.0000
5:81442652:C:CC	donor_gain	1.0000
5:81461053:A:AC	donor_gain	1.0000
5:81461054:C:CC	donor_gain	1.0000
5:81473451:C:CA	donor_gain	1.0000
5:81615471:A:AC	donor_gain	1.0000
5:81615472:C:CT	donor_gain	1.0000
5:81615472:CGT:C	donor_gain	1.0000
5:81615472:CGTA:C	donor_gain	1.0000
5:81615554:TACA:T	acceptor_gain	1.0000
5:81615556:CA:C	acceptor_gain	1.0000
5:81615558:C:CC	acceptor_gain	1.0000
5:81636556:CCA:C	donor_gain	1.0000
5:81636614:CTTAT:C	acceptor_gain	1.0000
5:81636617:ATC:A	acceptor_loss	1.0000
5:81636619:C:CC	acceptor_gain	1.0000
5:81636619:CTAA:C	acceptor_loss	1.0000

AlphaMissense

2405 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:81615482:G:C	F91L	1.000
5:81615482:G:T	F91L	1.000
5:81615483:A:C	F91C	1.000
5:81615483:A:G	F91S	1.000
5:81615484:A:C	F91V	1.000
5:81615484:A:G	F91L	1.000
5:81615484:A:T	F91I	1.000
5:81615493:C:G	A88P	1.000
5:81615496:C:T	E87K	1.000
5:81615521:T:A	R78S	1.000
5:81615521:T:G	R78S	1.000
5:81615535:C:G	A74P	1.000
5:81615536:A:C	C73W	1.000
5:81615537:C:T	C73Y	1.000
5:81615538:A:G	C73R	1.000
5:81615541:A:C	Y72D	1.000
5:81615541:A:G	Y72H	1.000
5:81615541:A:T	Y72N	1.000
5:81615543:A:C	L71R	1.000
5:81615543:A:G	L71P	1.000
5:81615543:A:T	L71H	1.000
5:81615544:G:A	L71F	1.000
5:81615546:T:A	D70V	1.000
5:81615546:T:C	D70G	1.000
5:81615546:T:G	D70A	1.000
5:81615547:C:A	D70Y	1.000
5:81615547:C:G	D70H	1.000
5:81615547:C:T	D70N	1.000
5:81615548:C:A	W69C	1.000
5:81615548:C:G	W69C	1.000

dbSNP variants (sampled 300 via entrez): RS1000008839 (5:81743041 C>T), RS1000009126 (5:81485704 T>G), RS1000044031 (5:81424382 C>A,G), RS1000051901 (5:81470794 ATGTC>A), RS1000064553 (5:81476770 A>C), RS1000081724 (5:81484123 C>G), RS1000093086 (5:81679569 C>T), RS1000106349 (5:81524277 T>C), RS1000107170 (5:81609641 A>G), RS1000122011 (5:81698544 G>A), RS1000140508 (5:81585460 C>T), RS1000147685 (5:81566711 G>T), RS1000151636 (5:81703144 C>A), RS1000157586 (5:81458709 G>A), RS1000170930 (5:81595652 T>C)

Disease associations

OMIM: gene MIM:607389 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000873_4	Anorexia nervosa	7.000000e-06
GCST001470_1	Glioblastoma	1.000000e-06
GCST008103_26	Bipolar disorder	3.000000e-08
GCST010988_95	Adult body size	9.000000e-13
GCST011102_7	Bipolar disorder	3.000000e-08
GCST011743_39	HDL cholesterol levels in HIV infection	5.000000e-06
GCST012465_21	Bipolar disorder	9.000000e-09
GCST90002400_691	Plateletcrit	1.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007985	platelet crit

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression	4
sodium arsenite	affects cotreatment, increases abundance, decreases expression	3
Valproic Acid	decreases expression, increases expression	3
bisphenol A	increases expression, decreases expression, affects cotreatment	2
trichostatin A	decreases expression, affects cotreatment	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Decitabine	affects expression, affects methylation, increases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression	2
Tretinoin	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, affects expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
methylselenic acid	increases expression	1
sulforaphane	decreases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
benzo(e)pyrene	affects methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
cupric chloride	decreases expression	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer