BLTP2

Summary

BLTP2 (bridge-like lipid transfer protein family member 2, HGNC:28960) is a protein-coding gene on chromosome 17q11.2, encoding Bridge-like lipid transfer protein family member 2 (Q14667). Tube-forming lipid transport protein which binds to phosphatidylinositols and affects phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) distribution. It is a selective cancer dependency (DepMap: 20.9% of cell lines).

This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3’ UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain.

Source: NCBI Gene 9703 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 326 total
• Cancer dependency (DepMap): dependent in 20.9% of screened cell lines
• MANE Select transcript: NM_014680

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28960
Approved symbol	BLTP2
Name	bridge-like lipid transfer protein family member 2
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX, FMP27, Hob
Ensembl gene	ENSG00000007202
Ensembl biotype	protein_coding
OMIM	610664
Entrez	9703

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 10 protein_coding, 9 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000389003, ENST00000528896, ENST00000577261, ENST00000577417, ENST00000577580, ENST00000579253, ENST00000579924, ENST00000580395, ENST00000580882, ENST00000581064, ENST00000581267, ENST00000582417, ENST00000582901, ENST00000583403, ENST00000583860, ENST00000902448, ENST00000939120, ENST00000939121, ENST00000939122, ENST00000939123, ENST00000939124, ENST00000955982

RefSeq mRNA: 7 — MANE Select: NM_014680 NM_001321560, NM_001321561, NM_001363826, NM_001363827, NM_001363828, NM_001363829, NM_014680

CCDS: CCDS32595

Canonical transcript exons

ENST00000528896 — 39 exons

Exon	Start	End
ENSE00004014572	28618791	28618971
ENSE00004014573	28624233	28624390
ENSE00004014574	28633895	28634086
ENSE00004014575	28631820	28631919
ENSE00004014576	28639315	28639460
ENSE00004014577	28619654	28619775
ENSE00004014578	28642869	28642987
ENSE00004014579	28644058	28644187
ENSE00004014580	28616379	28616509
ENSE00004014581	28633283	28633401
ENSE00004014582	28636965	28637170
ENSE00004014583	28616889	28616999
ENSE00004014584	28620988	28621170
ENSE00004014585	28615664	28615798
ENSE00004014586	28639575	28639642
ENSE00004014587	28643610	28643659
ENSE00004014588	28638252	28638415
ENSE00004014589	28642275	28642335
ENSE00004014590	28644989	28645158
ENSE00004014591	28614446	28615246
ENSE00004014592	28640560	28640683
ENSE00004014593	28641889	28642078
ENSE00004014594	28617232	28617318
ENSE00004014595	28633549	28633751
ENSE00004014596	28639901	28640025
ENSE00004014597	28616618	28616753
ENSE00004014598	28638524	28638642
ENSE00004014599	28637836	28638094
ENSE00004014600	28632942	28633162
ENSE00004014601	28643164	28643311
ENSE00004014602	28616096	28616197
ENSE00004014603	28634517	28635609
ENSE00004014604	28628265	28628559
ENSE00004014605	28620509	28620630
ENSE00004014606	28632049	28632239
ENSE00004014607	28619860	28620015
ENSE00004014608	28623760	28623966
ENSE00004014609	28631479	28631681
ENSE00004014610	28621399	28621498

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 97.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.8412 / max 611.7851, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165047	53.7619	1823
165044	0.0556	4
165043	0.0125	5
165045	0.0111	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	97.90	gold quality
stromal cell of endometrium	CL:0002255	96.10	gold quality
islet of Langerhans	UBERON:0000006	95.39	gold quality
ventricular zone	UBERON:0003053	95.31	gold quality
ganglionic eminence	UBERON:0004023	94.71	gold quality
granulocyte	CL:0000094	94.64	gold quality
sural nerve	UBERON:0015488	94.40	gold quality
colonic epithelium	UBERON:0000397	94.20	gold quality
adrenal gland	UBERON:0002369	94.10	gold quality
cortical plate	UBERON:0005343	94.08	gold quality
left adrenal gland cortex	UBERON:0035825	94.01	gold quality
right adrenal gland cortex	UBERON:0035827	94.00	gold quality
right adrenal gland	UBERON:0001233	93.94	gold quality
rectum	UBERON:0001052	93.87	gold quality
adrenal cortex	UBERON:0001235	93.80	gold quality
left adrenal gland	UBERON:0001234	93.71	gold quality
metanephros cortex	UBERON:0010533	93.66	gold quality
adenohypophysis	UBERON:0002196	93.49	gold quality
upper lobe of left lung	UBERON:0008952	93.49	gold quality
monocyte	CL:0000576	93.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.41	gold quality
leukocyte	CL:0000738	93.38	gold quality
right ovary	UBERON:0002118	93.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.33	gold quality
mononuclear cell	CL:0000842	93.28	gold quality
corpus callosum	UBERON:0002336	93.27	gold quality
right coronary artery	UBERON:0001625	93.20	gold quality
left ovary	UBERON:0002119	93.19	gold quality
pituitary gland	UBERON:0000007	93.17	gold quality
upper lobe of lung	UBERON:0008948	93.14	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting BLTP2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-4308	97.56	67.13	1385
HSA-MIR-585-5P	97.54	69.02	955
HSA-MIR-512-5P	97.47	66.48	591
HSA-MIR-3173-5P	97.35	65.82	1282
HSA-MIR-6799-3P	97.35	65.60	1302
HSA-MIR-6859-3P	97.26	64.69	428
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• BCOX1 mRNA signal is mainly located in the cytoplasm of breast carcinoma epithelial cells. mRNA expression was moderately elevated in ductal in situ carcinoma, peaked in invasive breast carcinoma and metastatic breast carcinoma cells (MET) (BCOX1) (PMID:16289875)
• MLAA-22 is a novel acute monocytic leukemia-associated antigen gene located on chromosome 17q11.2. (PMID:18549609)
• High BCOX1 expression may serve as a novel marker of poor prognosis and a potential therapeutic target for patients with invasive ductal carcinomas of the breast. (PMID:24489812)
• loss of miR-195 expression and thus uncontrolled BCOX1 upregulation might drive prostate cancer metastasis. (PMID:26338045)
• Circ_0000520 interacts with miR-512-5p to upregulate KIAA0100 to promote malignant behaviors in lung cancer. (PMID:35866672)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	BLTP2	ENSDARG00000030945
mus_musculus	Bltp2	ENSMUSG00000010277
rattus_norvegicus	Rskr	ENSRNOG00000011887
drosophila_melanogaster	hob	FBGN0035420
caenorhabditis_elegans	bltp-2	WBGENE00009285

Protein

Protein identifiers

Bridge-like lipid transfer protein family member 2 — Q14667 (reviewed: Q14667)

Alternative names: Antigen MLAA-22, Breast cancer-overexpressed gene 1 protein, Protein hobbit homolog

All UniProt accessions (5): Q14667, J3QLM5, K7EMT1, K7EQ86, K7EQR3

UniProt curated annotations — full annotation on UniProt →

Function. Tube-forming lipid transport protein which binds to phosphatidylinositols and affects phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) distribution.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Mitochondrion membrane.

Tissue specificity. Expressed in pancreas, placenta and up-regulated in breast carcinoma epithelial cells, ductal in situ carcinoma (DCIS), invasive breast carcinoma (IBC) and metastatic breast carcinoma cells (MET).

Similarity. Belongs to the SABRE family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q14667-1	1	yes
Q14667-2	2
Q14667-3	3
Q14667-4	4

RefSeq proteins (6): NP_001308489, NP_001350755, NP_001350756, NP_001350757, NP_001350758, NP_055495* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019441	FMP27/BLTP2/Hobbit_GFWDK_RBG	Domain
IPR045167	Hobbit	Family

Pfam: PF10344

UniProt features (37 total): sequence conflict 17, splice variant 6, modified residue 4, sequence variant 3, region of interest 3, signal peptide 1, chain 1, glycosylation site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14667-F1	71.37	0.11

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 (4): 563, 1846, 2090, 2094

Glycosylation sites (1): 730

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 131 (showing top): MITSIADES_RESPONSE_TO_APLIDIN_DN, chr17q11, PATIL_LIVER_CANCER, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOCC_MITOCHONDRIAL_ENVELOPE, DOUGLAS_BMI1_TARGETS_UP, GOCC_ORGANELLE_MEMBRANE_CONTACT_SITE, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, NIKOLSKY_MUTATED_AND_AMPLIFIED_IN_BREAST_CANCER, GOMF_PHOSPHATIDYLINOSITOL_BINDING, GOMF_LIPID_BINDING, GOMF_PHOSPHOLIPID_BINDING, TOOKER_GEMCITABINE_RESISTANCE_UP

GO Biological Process (0):

GO Molecular Function (1): phosphatidylinositol binding (GO:0035091)

GO Cellular Component (7): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), mitochondrial membrane (GO:0031966), endoplasmic reticulum-plasma membrane contact site (GO:0140268), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle membrane	2
cytoplasm	2
intracellular membrane-bounded organelle	2
anion binding	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane contact site	1
endomembrane system	1
cellular anatomical structure	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BLTP2	SSU72	Q9NP77	502
BLTP2	LPCAT2	Q7L5N7	435
BLTP2	MCTP1	Q6DN14	419
BLTP2	CSTA	P01040	406
BLTP2	RNF32	Q9H0A6	406
BLTP2	SETX	Q7Z333	405
BLTP2	PADI2	Q9Y2J8	392
BLTP2	PRR11	Q96HE9	390
BLTP2	TBC1D3	Q8IZP1	348
BLTP2	ARMC5	Q96C12	347
BLTP2	POT1	Q9NUX5	343
BLTP2	POLR2C	P19387	338
BLTP2	ENTHD1	Q8IYW4	326
BLTP2	TMEM120B	A0PK00	321
BLTP2	NWD1	Q149M9	307

IntAct

32 interactions, top by confidence:

A	B	Type	Score
DNAJC7	PLD2	psi-mi:“MI:0914”(association)	0.640
MLF1	HAX1	psi-mi:“MI:0914”(association)	0.560
PSMC4	PSMD3	psi-mi:“MI:0914”(association)	0.530
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
DNAJB8	DNAJB6	psi-mi:“MI:0914”(association)	0.530
RAB5A	PSMD14	psi-mi:“MI:0914”(association)	0.350
ACTB	ENAH	psi-mi:“MI:0914”(association)	0.350
KRT2	IFT56	psi-mi:“MI:0914”(association)	0.350
TEX28	NBAS	psi-mi:“MI:0914”(association)	0.350
DOCK5	DPYSL4	psi-mi:“MI:0914”(association)	0.350
BORCS8	TP73	psi-mi:“MI:0914”(association)	0.350
RNF126	GET3	psi-mi:“MI:0914”(association)	0.350
ACTB	MYO1B	psi-mi:“MI:0914”(association)	0.350
HSPA8	SBNO1	psi-mi:“MI:0914”(association)	0.350
PUDP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
UPP1	A2ML1	psi-mi:“MI:0914”(association)	0.350
BAG2	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
BAG5	ACACB	psi-mi:“MI:0914”(association)	0.350
CIB2	APAF1	psi-mi:“MI:0914”(association)	0.350
DHDH	ZNF185	psi-mi:“MI:0914”(association)	0.350
SOHLH1	FANCA	psi-mi:“MI:0914”(association)	0.350
MAP2K2	FANCA	psi-mi:“MI:0914”(association)	0.350
COMMD5	FANCA	psi-mi:“MI:0914”(association)	0.350
STUB1	ADCY3	psi-mi:“MI:0914”(association)	0.350
ACTB	MYO1D	psi-mi:“MI:0914”(association)	0.350
DNAJB2	UBB	psi-mi:“MI:0914”(association)	0.350
TEX28	PRAF2	psi-mi:“MI:0914”(association)	0.350
SLC26A8	PSMD12	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (65): KIAA0100 (Two-hybrid), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-RNA), KIAA0100 (Affinity Capture-RNA), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Affinity Capture-MS), KIAA0100 (Proximity Label-MS)

ESM2 similar proteins: A0A8M9QN10, A0JNW5, A1Z713, A2BID5, A2RRP1, A2RSJ4, B0DOB4, B9EJ80, D3YVL2, D4A039, O70173, O88480, Q08D51, Q14667, Q1LUT1, Q1LXR6, Q21480, Q2TAZ0, Q3UHQ6, Q402B2, Q5H8C4, Q5JWR5, Q5R6T6, Q5SYL3, Q5T0N1, Q5THJ4, Q5TYW4, Q5XIR4, Q642P2, Q6BDS2, Q6INI0, Q6IRN0, Q6NRZ1, Q6P2C0, Q6P4K6, Q6P4T0, Q709C8, Q7ZXT3, Q80XK6, Q8BL99

Diamond homologs: Q06179, Q14667, Q5SYL3, Q9VZS7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 54 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
AUF1 (hnRNP D0) binds and destabilizes mRNA	6	39.2×	3e-06
Regulation of activated PAK-2p34 by proteasome mediated degradation	5	36.6×	1e-05
Vpu mediated degradation of CD4	5	34.9×	1e-05
Autodegradation of the E3 ubiquitin ligase COP1	5	34.9×	1e-05
Ubiquitin-dependent degradation of Cyclin D	5	34.9×	1e-05
Vif-mediated degradation of APOBEC3G	5	33.4×	1e-05
Degradation of AXIN	5	32.7×	1e-05
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis	5	32.7×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	7	14.5×	2e-04
proteasome-mediated ubiquitin-dependent protein catabolic process	7	7.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	263
Likely benign	11
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

5670 predictions. Top by Δscore:

Variant	Effect	Δscore
17:28615242:ATTAC:A	acceptor_gain	1.0000
17:28615243:TTAC:T	acceptor_gain	1.0000
17:28615244:TAC:T	acceptor_gain	1.0000
17:28615245:AC:A	acceptor_gain	1.0000
17:28615246:CC:C	acceptor_gain	1.0000
17:28615247:C:CC	acceptor_gain	1.0000
17:28615248:T:C	acceptor_loss	1.0000
17:28615251:C:CT	acceptor_gain	1.0000
17:28615252:A:T	acceptor_gain	1.0000
17:28615254:A:AC	acceptor_gain	1.0000
17:28615254:A:C	acceptor_gain	1.0000
17:28615255:T:C	acceptor_gain	1.0000
17:28615255:T:TC	acceptor_gain	1.0000
17:28615265:G:C	acceptor_gain	1.0000
17:28615265:G:GC	acceptor_gain	1.0000
17:28615659:GATAC:G	donor_loss	1.0000
17:28615660:ATACC:A	donor_loss	1.0000
17:28615661:TACCT:T	donor_loss	1.0000
17:28615662:ACC:A	donor_loss	1.0000
17:28615690:C:A	donor_gain	1.0000
17:28615795:CACC:C	acceptor_gain	1.0000
17:28615796:ACC:A	acceptor_gain	1.0000
17:28615797:CC:C	acceptor_gain	1.0000
17:28615797:CCC:C	acceptor_gain	1.0000
17:28615798:CC:C	acceptor_gain	1.0000
17:28615799:C:CC	acceptor_gain	1.0000
17:28616198:C:CC	acceptor_gain	1.0000
17:28616612:TCTCA:T	donor_loss	1.0000
17:28616613:CTCA:C	donor_loss	1.0000
17:28616614:TCA:T	donor_loss	1.0000

AlphaMissense

14666 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:28615698:A:T	V2164D	1.000
17:28615720:A:G	W2157R	1.000
17:28615720:A:T	W2157R	1.000
17:28615726:A:G	W2155R	1.000
17:28615726:A:T	W2155R	1.000
17:28616106:A:T	V2127D	1.000
17:28616160:G:T	A2109D	1.000
17:28616161:C:G	A2109P	1.000
17:28616163:C:G	R2108P	1.000
17:28616171:C:A	M2105I	1.000
17:28616171:C:G	M2105I	1.000
17:28616171:C:T	M2105I	1.000
17:28616172:A:C	M2105R	1.000
17:28616172:A:G	M2105T	1.000
17:28616172:A:T	M2105K	1.000
17:28616911:A:C	I2000S	1.000
17:28616911:A:G	I2000T	1.000
17:28616917:C:T	G1998E	1.000
17:28618826:C:G	A1930P	1.000
17:28618862:A:G	W1918R	1.000
17:28618862:A:T	W1918R	1.000
17:28619669:A:G	L1876P	1.000
17:28619926:C:A	Q1818H	1.000
17:28619926:C:G	Q1818H	1.000
17:28619978:A:G	L1801P	1.000
17:28619983:G:C	F1799L	1.000
17:28619983:G:T	F1799L	1.000
17:28619984:A:G	F1799S	1.000
17:28619985:A:G	F1799L	1.000
17:28628411:A:G	L1483P	1.000

dbSNP variants (sampled 300 via entrez): RS1000270788 (17:28644380 C>T), RS1000373472 (17:28637562 C>T), RS1000550837 (17:28646520 C>G), RS1000604548 (17:28646727 T>C), RS1000715056 (17:28636155 T>C), RS1000821108 (17:28629534 A>G), RS1000974955 (17:28614946 C>A,G,T), RS1001076004 (17:28629287 T>C,G), RS1001193485 (17:28625210 C>T), RS1001244772 (17:28629849 G>A,C), RS1001345139 (17:28614690 G>A), RS1001430804 (17:28636437 T>C), RS1001503571 (17:28642420 G>A), RS1001598571 (17:28642722 C>T), RS1001702020 (17:28623068 T>C)

Disease associations

OMIM: gene MIM:610664 | 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

0 associations (top):

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

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	affects phosphorylation	1
geldanamycin	increases expression	1
testosterone enanthate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Caffeine	decreases phosphorylation	1
Coumestrol	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Selenium	increases expression	1
Valproic Acid	affects expression	1
Vitamin E	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2ZR	Abcam HEK293T KIAA0100 KO	Transformed cell line	Female
CVCL_SU59	HAP1 KIAA0100 (-) 1	Cancer cell line	Male
CVCL_XP97	HAP1 KIAA0100 (-) 2	Cancer cell line	Male
CVCL_XP98	HAP1 KIAA0100 (-) 3	Cancer cell line	Male
CVCL_XP99	HAP1 KIAA0100 (-) 4	Cancer cell line	Male

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