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): 329 total (top 10% of genes corpus-wide)
• Regional missense constraint (gnomAD): 2 of 6 regions constrained (≈2% of expected missense variation)
• GTEx eGene: eQTL in 5 tissues, sQTL in 1 (q < 0.05)
• Cancer dependency (DepMap): dependent in 20.9% of screened cell lines
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.56 (moderately constrained)
• MANE Select transcript: NM_014680
• Notable: 329 clinical variants but no curated precision-oncology (CIViC) evidence yet

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: 33 — 13 protein_coding, 10 nonsense_mediated_decay, 9 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000528896

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 4, TSL 3: 6, TSL 5: 1

ENST00000528896, ENST00000389003, ENST00000577261, ENST00000577417, ENST00000577580, ENST00000579253, ENST00000579924, ENST00000580395, ENST00000580882, ENST00000581064, ENST00000581267, ENST00000582417, ENST00000582901, ENST00000583403, ENST00000583860, ENST00000902448, ENST00000939120, ENST00000939121, ENST00000939122, ENST00000939123, ENST00000939124, ENST00000955982, ENST00000975964, ENST00000975965, ENST00001076219, ENST00001076220, ENST00001076221, ENST00001076222, ENST00001076223, ENST00001110044, ENST00001110045, ENST00001140845, ENST00001146188

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.

Highest expression (Bgee): adrenal tissue, stromal cell of endometrium, islet of Langerhans, ventricular zone, ganglionic eminence.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BLTP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 5 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

6 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Lung	sqtl	1.3e-08	-0.33	17:28675384:A:G
Ovary	eqtl	1.1e-02	+0.47	17:27712094:G:C
Brain Cerebellar Hemisphere	eqtl	3.6e-02	-0.09	17:29577967:A:G
Esophagus Mucosa	eqtl	3.6e-02	-0.35	17:28958456:T:C
Spleen	eqtl	3.6e-02	-0.33	17:27935604:G:A
Thyroid	eqtl	4.5e-02	+0.12	17:28745550:GC:G

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

showing 100 of 287 tissues 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
mucosa of transverse colon	UBERON:0004991	93.12	gold quality
right lobe of thyroid gland	UBERON:0001119	93.10	gold quality
adult mammalian kidney	UBERON:0000082	93.06	gold quality
muscle of leg	UBERON:0001383	93.06	gold quality
apex of heart	UBERON:0002098	93.05	gold quality
gastrocnemius	UBERON:0001388	93.00	gold quality
prefrontal cortex	UBERON:0000451	92.95	gold quality
body of uterus	UBERON:0009853	92.95	gold quality
cerebellar hemisphere	UBERON:0002245	92.86	gold quality
cerebellar cortex	UBERON:0002129	92.85	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.81	gold quality
pons	UBERON:0000988	92.79	gold quality
transverse colon	UBERON:0001157	92.69	gold quality
descending thoracic aorta	UBERON:0002345	92.66	gold quality
left lobe of thyroid gland	UBERON:0001120	92.63	gold quality
body of pancreas	UBERON:0001150	92.63	gold quality
pancreas	UBERON:0001264	92.59	gold quality
body of stomach	UBERON:0001161	92.47	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.42	gold quality
stomach	UBERON:0000945	92.41	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.40	gold quality
lower esophagus	UBERON:0013473	92.39	gold quality
cerebellum	UBERON:0002037	92.33	gold quality
spleen	UBERON:0002106	92.31	gold quality
right frontal lobe	UBERON:0002810	92.28	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.27	gold quality
thyroid gland	UBERON:0002046	92.25	gold quality
thoracic aorta	UBERON:0001515	92.24	gold quality
small intestine	UBERON:0002108	92.24	gold quality
ascending aorta	UBERON:0001496	92.19	gold quality
smooth muscle tissue	UBERON:0001135	92.18	gold quality
right lung	UBERON:0002167	92.18	gold quality
tibial nerve	UBERON:0001323	92.12	gold quality
left coronary artery	UBERON:0001626	92.09	gold quality
superior vestibular nucleus	UBERON:0007227	92.08	gold quality
esophagus	UBERON:0001043	92.06	gold quality
peritoneum	UBERON:0002358	92.04	gold quality
omental fat pad	UBERON:0010414	92.03	gold quality
mucosa of stomach	UBERON:0001199	91.95	gold quality
skin of leg	UBERON:0001511	91.92	gold quality
coronary artery	UBERON:0001621	91.91	gold quality
left uterine tube	UBERON:0001303	91.90	gold quality
tonsil	UBERON:0002372	91.89	gold quality
intestine	UBERON:0000160	91.77	gold quality
colon	UBERON:0001155	91.77	gold quality
skin of abdomen	UBERON:0001416	91.77	gold quality
aorta	UBERON:0000947	91.74	gold quality
esophagus mucosa	UBERON:0002469	91.72	gold quality
lymph node	UBERON:0000029	91.66	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.62	gold quality
large intestine	UBERON:0000059	91.60	gold quality
frontal cortex	UBERON:0001870	91.59	gold quality
muscle organ	UBERON:0001630	91.52	gold quality
caecum	UBERON:0001153	91.44	gold quality
fundus of stomach	UBERON:0001160	91.42	gold quality
popliteal artery	UBERON:0002250	91.41	gold quality
tibial artery	UBERON:0007610	91.40	gold quality
minor salivary gland	UBERON:0001830	91.39	gold quality
vermiform appendix	UBERON:0001154	91.23	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.20	gold quality
neocortex	UBERON:0001950	91.17	gold quality
left testis	UBERON:0004533	91.16	gold quality
saliva-secreting gland	UBERON:0001044	91.11	gold quality
right testis	UBERON:0004534	91.06	gold quality
ovary	UBERON:0000992	91.04	gold quality
body of tongue	UBERON:0011876	90.91	gold quality
heart left ventricle	UBERON:0002084	90.89	gold quality
zone of skin	UBERON:0000014	90.87	gold quality
superior surface of tongue	UBERON:0007371	90.85	gold quality
gluteal muscle	UBERON:0002000	90.82	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

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Caudate putamen	tissue	99.0
Choroid plexus	tissue	92.3
Frontal cortex	tissue	79.6
Locus coeruleus	tissue	78.8
Postcentral gyrus	tissue	72.3
Hippocampus	tissue	72.2	medium
Nucleus accumbens	tissue	60.2
Parathyroid gland	tissue	48.7	high
Skeletal muscle	tissue	48.7	medium
Kidney	tissue	40.2	medium
Tongue	tissue	39.7
Adipose tissue	tissue	33.8	not detected
Thyroid gland	tissue	33.1	medium
Smooth muscle	tissue	33.0	medium
Rectum	tissue	32.7	high
Tonsil	tissue	32.7	low
Skin 1	tissue	30.1	low
Thymus	tissue	30.1
Bone marrow	tissue	29.7	low
Esophagus	tissue	29.4	medium
Lung	tissue	29.0	high
Colon	tissue	28.9	medium
Breast	tissue	28.7	low
Urinary bladder	tissue	28.3	medium
Placenta	tissue	27.9	medium
Fallopian tube	tissue	27.5	medium
Salivary gland	tissue	27.2	low
Spleen	tissue	27.1	not detected
Appendix	tissue	26.9	medium
Adrenal gland	tissue	26.8	high
Lymph node	tissue	26.6	not detected
Seminal vesicle	tissue	25.6	medium
Retina	tissue	25.5
Prostate	tissue	25.4	low
Small intestine	tissue	25.1	medium
Epididymis	tissue	24.3	medium
Pituitary gland	tissue	23.9
Testis	tissue	23.3	medium
Heart muscle	tissue	22.4	medium
Stomach 1	tissue	21.6	high
Cervix	tissue	21.4	medium
Endometrium 1	tissue	20.5	low
Pancreas	tissue	20.3	medium
Ovary	tissue	20.0	low
Gallbladder	tissue	19.2	medium
Duodenum	tissue	18.6	medium
Corpus callosum	tissue	15.7
Vagina	tissue	15.1	not detected
Cerebral cortex	tissue	14.3	high
Substantia nigra	tissue	14.3
Somatosensory cortex	tissue	14.3
Spinal cord	tissue	14.0
Midbrain	tissue	13.8
Hippocampal formation	tissue	13.8
Cerebellum	tissue	13.6	medium
Pons	tissue	13.5
Thalamus	tissue	13.5
Medulla oblongata	tissue	13.4
Superior colliculi	tissue	13.2
Occipital cortex	tissue	13.0

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Nucleus raphe magnus (86.9), Nuclei of the trapezoid body (85.7), Ventral periolivary nuclei (85.0), Lateral lemniscal nuclei (84.9), Motor facial nucleus (82.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting BLTP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 36 miRNAs:

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

gnomAD constraint: pLI 1.14e-11, LOEUF 0.56, missense Z 3.58 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000528896 splits into 6 regions with different missense tolerance; 2 are missense-constrained (≈2% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
17:28,615,067–28,624,365	578 / 858.3	0.67	no
17:28,624,366–28,633,340	400 / 460.4	0.87	no
17:28,633,341–28,633,385	4 / 17.5	0.23	yes (p 1.3e-03)
17:28,633,386–28,634,808	296 / 309.8	0.96	no
17:28,634,809–28,634,873	7 / 25.6	0.27	yes (p 2.3e-04)
17:28,634,874–28,645,056	1064 / 1081.4	0.98	no
DepMap (CRISPR cell-line fitness): dependent in 20.9% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): OVTOKO (-1.487), Z-138 (-1.287), LO68 (-1.265), ES4 (-1.176), NRH-LS3 (-1.16), L-363 (-1.148), EW-16 (-1.143), JHUEM-1 (-1.141), NCI-H2452 (-1.123), RPE1-ss119 (-1.118), LPS6 (-1.069), UACC-62 (-1.033), TM-87 (-1.029), SNU-840 (-1.026), SW1116 (-1.026).

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	si:ch211-259g3.4	ENSDARG00000030945
mus_musculus	Bltp2	ENSMUSG00000010277
rattus_norvegicus	Bltp2	ENSRNOG00000011887
drosophila_melanogaster	hob	FBGN0035420
caenorhabditis_elegans	F31C3.3	WBGENE00009285

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1919753) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 18 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal heart morphology	1
absent vibrissae	1
abnormal cornea morphology	1
abnormal locomotor behavior	1
decreased exploration in new environment	1
decreased embryo size	1
abnormal placenta development	1
abnormal placenta labyrinth morphology	1
hemorrhage	1
abnormal coat/hair pigmentation	1
increased heart weight	1
abnormal trophoblast layer morphology	1
embryonic lethality during organogenesis, complete penetrance	1
preweaning lethality, complete penetrance	1
abnormal head shape	1
decreased spongiotrophoblast size	1
embryonic lethality prior to tooth bud stage	1
abnormal embryo morphology	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Saccharomyces cerevisiae S288C	Q06179	42.0%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
SPAG5-AS1	ncRNA	100506436
RSKR	protein-coding	124923
PROCA1	protein-coding	147011
SDF2	protein-coding	6388
SUPT6H	protein-coding	6830
SPAG5	protein-coding	10615
ALDOC	protein-coding	230
PIGS	protein-coding	94005
RAB34	protein-coding	83871

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 (7): NP_001308489, NP_001308490, 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

Predicted structure (AlphaFold)

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

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; nuclear speckles

Antibody reliability (HPA): IH uncertain · IF approved

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)

Type	Positions
Phosphoserine	563, 1846, 2090, 2094

Glycosylation sites (1)

Type	Positions
N-linked (glcnac…) asparagine	730

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

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

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), mitochondrial membrane (GO:0031966), endoplasmic reticulum-plasma membrane contact site (GO:0140268)

GO top-level categories

9 GO namespaces:

Category	Terms
organelle membrane	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

Protein interactions and networks

STRING

showing 15 of 476 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BLTP2	BLTP3B	A0JNW5	630
BLTP2	BLTP1	Q2LD37	620
BLTP2	VPS13A	Q96RL7	512
BLTP2	MCTP1	Q6DN14	443
BLTP2	OSCP1	Q8WVF1	426
BLTP2	SSU72	Q9NP77	416
BLTP2	VPS13D	Q5THJ4	411
BLTP2	ATG2A	Q2TAZ0	409
BLTP2	CSMD2	Q7Z408	392
BLTP2	LPCAT2	Q7L5N7	370
BLTP2	CSTA	P01040	370
BLTP2	RNF32	Q9H0A6	370
BLTP2	SPATA19	Q7Z5L4	362
BLTP2	PADI2	Q9Y2J8	361
BLTP2	ARMC5	Q96C12	358

Disease & clinical

Genetic variants

Variant evidence for BLTP2: 329 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	265
Likely benign	11
Benign	4

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 3,215):

Position(s)	Effect	Δscore	Sites
17:28615247–28615248	acceptor_loss	1.0000	4
17:28615252–28615255	acceptor_gain	1.0000	3
17:28615265	acceptor_gain	1.0000
17:28615662–28615663	donor_loss	1.0000	4
17:28615690	donor_gain	1.0000
17:28616616–28616617	donor_loss	1.0000	5
17:28616641	donor_gain	1.0000
17:28616754	acceptor_gain	1.0000
17:28618789–28618790	donor_loss	1.0000	5
17:28618972–28618973	acceptor_loss	1.0000	6

AlphaMissense

5,426 missense substitutions predicted likely pathogenic (of 14,666 scored), across 1,443 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M2105	9	0.997	1.000
D2159	8	0.997	0.999
D1130	8	0.991	0.998
F2115	8	0.991	0.999
D1774	8	0.990	0.998
F2030	8	0.986	0.998
N2112	8	0.984	0.999
H490	8	0.982	0.995
D869	8	0.981	0.990
F1799	8	0.981	1.000
D899	8	0.979	0.994
D1197	8	0.979	0.996
D1245	8	0.976	0.992
D1924	8	0.973	0.995
H1951	8	0.971	0.997
D978	8	0.969	0.990
F1250	8	0.962	0.996
D1121	8	0.961	0.982
D883	8	0.960	0.986
D1198	8	0.959	0.991

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.000165
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000244

Disease associations

OMIM: gene MIM:610664 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

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)

Via MONDO — disease-level, not drug-specific.

showing 60 of 300 trials:

NCT	Phase	Status	Title
NCT00029224	Phase 4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	Phase 4	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	Phase 4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	Phase 4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	Phase 4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	Phase 4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	Phase 4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	Phase 4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	Phase 4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	Phase 4	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	Phase 4	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	Phase 4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	Phase 4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	Phase 4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	Phase 4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	Phase 4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	Phase 4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	Phase 4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	Phase 4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	Phase 4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	Phase 4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	Phase 4	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	Phase 4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	Phase 4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	Phase 4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	Phase 4	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	Phase 4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	Phase 4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	Phase 4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	Phase 4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	Phase 4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	Phase 4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	Phase 4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	Phase 4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	Phase 4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	Phase 4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	Phase 4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	Phase 4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	Phase 4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	Phase 4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer
NCT01673984	Phase 4	TERMINATED	GP Extended Action Triptorelin
NCT01753297	Phase 4	COMPLETED	A Study of Immediate 9 Months Adjuvant Hormone Therapy With Triptorelin 11.25 mg Versus Active Surveillance After Radical Prostatectomy in High Risk Prostate Cancer Patients.
NCT01794793	Phase 4	COMPLETED	Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies
NCT01950871	Phase 4	TERMINATED	Prostate Guided Biopsy Study Evaluating the Diagnostic Performance of Prostate HistoScanning
NCT01995513	Phase 4	COMPLETED	Safety Study of Continued Enzalutamide Treatment In Prostate Cancer Patients
NCT02102646	Phase 4	COMPLETED	MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism
NCT02116582	Phase 4	COMPLETED	A Study to Evaluate Enzalutamide After Abiraterone in Metastatic Castration-Resistant Prostate Cancer
NCT02149628	Phase 4	COMPLETED	The Effect of Propofol Based Total Intravenous Anesthesia on Oxidative Stress and Nitric Oxide
NCT02405858	Phase 4	COMPLETED	A Study of Abiraterone Acetate in Metastatic Castration-Resistant Prostate Cancer Participants Who Responded Poorly to the First-line Combined Androgen Blockade Therapy
NCT02441517	Phase 4	TERMINATED	A Study of Enzalutamide Re-treatment in Metastatic Castration-resistant Prostate Cancer After Docetaxel and/or Cabazitaxel Treatment
NCT02441894	Phase 4	COMPLETED	Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer
NCT02475057	Phase 4	COMPLETED	Endothelial Function in Prostate Cancer Patients on Degarelix vs. Luteinizing Hormone-Releasing Hormone Agonists
NCT02511665	Phase 4	UNKNOWN	Metformin And Longevity
NCT02651948	Phase 4	COMPLETED	Transperineal, MRI-guided, Prostate Biopsy
NCT02721433	Phase 4	COMPLETED	4-weekly Versus 12-weekly Administration of Bone-targeted Agents in Patients With Bone Metastases
NCT02726009	Phase 4	COMPLETED	A Trial to Evaluate Safety of Firmagon® (Degarelix) in Indian Patients Diagnosed With Advanced Hormone-dependent Prostate Cancer
NCT02749825	Phase 4	TERMINATED	Comparison of Trelstar Versus Lupron or Zoladex in Advanced Prostate Cancer
NCT02757365	Phase 4	UNKNOWN	Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer
NCT02773251	Phase 4	COMPLETED	The Effect of Guardix-solution for the Prevention of Postoperative Intestinal Adhesion and Intestinal Obstruction After Laparoscopic Pelvic Cavity Surgery
NCT02812186	Phase 4	COMPLETED	Deep Versus Moderate Neuromuscular Blockade During Laparoscopic Surgery