PLSCR3

Summary

PLSCR3 (phospholipid scramblase 3, HGNC:16495) is a protein-coding gene on chromosome 17p13.1, encoding Phospholipid scramblase 3 (Q9NRY6). Catalyzes calcium-induced ATP-independent rapid bidirectional and non-specific movement of the phospholipids (lipid scrambling or lipid flip-flop) between the inner and outer membrane of the mitochondria.

Enables calcium-dependent protein binding activity; metal ion binding activity; and phospholipid scramblase activity. Involved in several processes, including apoptotic process; mitochondrial membrane organization; and regulation of release of cytochrome c from mitochondria. Located in cytosol; mitochondrion; and plasma membrane.

Source: NCBI Gene 57048 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_020360

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16495
Approved symbol	PLSCR3
Name	phospholipid scramblase 3
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187838
Ensembl biotype	protein_coding
OMIM	607611
Entrez	57048

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 31 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000324822, ENST00000571078, ENST00000571541, ENST00000571802, ENST00000573070, ENST00000573213, ENST00000573774, ENST00000574401, ENST00000575434, ENST00000575543, ENST00000576201, ENST00000576362, ENST00000619711, ENST00000899099, ENST00000899100, ENST00000899101, ENST00000899102, ENST00000899103, ENST00000899104, ENST00000899105, ENST00000899106, ENST00000899107, ENST00000899108, ENST00000899109, ENST00000899110, ENST00000899111, ENST00000899112, ENST00000899113, ENST00000899114, ENST00000937906, ENST00000937907, ENST00000937908, ENST00000937909, ENST00000955900, ENST00000955901

RefSeq mRNA: 6 — MANE Select: NM_020360 NM_001201576, NM_001369407, NM_001369420, NM_001369421, NM_001369422, NM_020360

CCDS: CCDS42253

Canonical transcript exons

ENST00000619711 — 8 exons

Exon	Start	End
ENSE00003542028	7389727	7390441
ENSE00003570129	7393467	7393509
ENSE00003573905	7390634	7390795
ENSE00003607473	7394477	7394525
ENSE00003613207	7394104	7394267
ENSE00003625604	7393144	7393364
ENSE00003757977	7392791	7392952
ENSE00003892939	7393601	7393836

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.2327 / max 706.8658, expressed in 1814 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164220	72.7931	1811
164219	3.5683	1313
164218	2.5663	785
208048	1.5227	1027
164217	0.5867	351
164216	0.1955	59

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	95.96	gold quality
lower esophagus mucosa	UBERON:0035834	95.19	gold quality
stromal cell of endometrium	CL:0002255	94.69	gold quality
right coronary artery	UBERON:0001625	93.92	gold quality
left coronary artery	UBERON:0001626	93.72	gold quality
ectocervix	UBERON:0012249	93.72	gold quality
descending thoracic aorta	UBERON:0002345	93.64	gold quality
thoracic aorta	UBERON:0001515	93.55	gold quality
ascending aorta	UBERON:0001496	93.53	gold quality
tibial nerve	UBERON:0001323	92.90	gold quality
apex of heart	UBERON:0002098	92.87	gold quality
body of uterus	UBERON:0009853	92.73	gold quality
myometrium	UBERON:0001296	92.68	gold quality
endocervix	UBERON:0000458	92.62	gold quality
left uterine tube	UBERON:0001303	92.62	gold quality
spleen	UBERON:0002106	92.40	gold quality
omental fat pad	UBERON:0010414	92.22	gold quality
vagina	UBERON:0000996	92.13	gold quality
adipose tissue	UBERON:0001013	91.97	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.81	gold quality
right ovary	UBERON:0002118	91.53	gold quality
esophagus mucosa	UBERON:0002469	91.40	gold quality
popliteal artery	UBERON:0002250	91.37	gold quality
tibial artery	UBERON:0007610	91.37	gold quality
right lung	UBERON:0002167	91.34	gold quality
blood	UBERON:0000178	91.29	gold quality
lower esophagus	UBERON:0013473	91.29	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.28	gold quality
esophagus	UBERON:0001043	91.16	gold quality
uterine cervix	UBERON:0000002	91.14	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting PLSCR3, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-935	98.82	69.36	1072

Literature-anchored findings (GeneRIF, showing 9)

• PLS3 is a downstream effector of PKC-delta in the mitochondria. (PMID:12649167)
• PLS3 as a critical regulator of mitochondrial structure and respiration, and CL transport in apoptosis. (PMID:14573790)
• This enzyme is a novel regulator of cardiolipin de novo biosynthesis and its resynthesis. (PMID:16939411)
• These findings indicate that phosphorylation of PLS3 by PKC-delta induces PLS3 activation to facilitate mitochondrial targeting of tBid and apoptosis. (PMID:17226776)
• Identification of Alix-type and Non-Alix-type ALG-2-binding sites in human phospholipid scramblase 3: differential binding to an alternatively spliced isoform and amino acid-substituted mutants (PMID:18256029)
• TRAIL-induced activation of PKC-delta mediates regulation of the phospholipid scramblase3-induced changes in cardiolipin. (PMID:18491232)
• Results show that binding affinities of the peptides are in the order hPLSCR1>hPLSCR3>hPLSCR2>hPLSCR4 for Ca2+ and in the order hPLSCR1>hPLSCR2>hPLSCR3>hPLSCR4 for Mg2+. (PMID:19540310)
• Secreted Scr3 was taken up by HeLa cells, suggesting that Scr3 functions as a cell-to-cell transferable modulator carried by exosomes in a paracrine manner. (PMID:23350699)
• The results revealed that Ca2+ and Mg2+ bind to Human phospholipid scramblase 3 (hPLSCR3) and trigger conformational changes mediated by aggregation. (PMID:29337693)

Cross-species orthologs

19 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-71m22.1	ENSDARG00000058638
danio_rerio	plscr3b	ENSDARG00000069432
danio_rerio	si:ch73-206p6.1	ENSDARG00000077468
danio_rerio	si:ch211-71m22.3	ENSDARG00000079075
danio_rerio	si:ch211-71m22.5	ENSDARG00000091266
danio_rerio	si:dkey-62k3.6	ENSDARG00000091614
danio_rerio	plscr3a	ENSDARG00000093078
danio_rerio		ENSDARG00000100828
danio_rerio	si:ch73-170d6.4	ENSDARG00000102460
mus_musculus	Plscr3	ENSMUSG00000019461
rattus_norvegicus	Plscr3	ENSRNOG00000027914
caenorhabditis_elegans	scrm-4	WBGENE00008681
caenorhabditis_elegans	scrm-6	WBGENE00009753
caenorhabditis_elegans	scrm-1	WBGENE00011935
caenorhabditis_elegans		WBGENE00013052
caenorhabditis_elegans	scrm-2	WBGENE00014200
caenorhabditis_elegans		WBGENE00015437
caenorhabditis_elegans		WBGENE00019530
caenorhabditis_elegans		WBGENE00019531

Paralogs (4): PLSCR4 (ENSG00000114698), PLSCR2 (ENSG00000163746), PLSCR1 (ENSG00000188313), PLSCR5 (ENSG00000231213)

Protein

Protein identifiers

Phospholipid scramblase 3 — Q9NRY6 (reviewed: Q9NRY6)

Alternative names: Ca(2+)-dependent phospholipid scramblase 3

All UniProt accessions (7): Q9NRY6, I3L161, I3L1P6, I3L1V1, I3L3X5, I3L4F5, I3NI29

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes calcium-induced ATP-independent rapid bidirectional and non-specific movement of the phospholipids (lipid scrambling or lipid flip-flop) between the inner and outer membrane of the mitochondria. Plays an important role in mitochondrial respiratory function, morphology, and apoptotic response. Mediates the translocation of cardiolipin from the mitochondrial inner membrane to outer membrane enhancing t-Bid induced cytochrome c release and apoptosis. Enhances TNFSF10-induced apoptosis by regulating the distribution of cardiolipin in the mitochondrial membrane resulting in increased release of apoptogenic factors and consequent amplification of the activity of caspases. Regulates cardiolipin de novo biosynthesis and its resynthesis.

Subunit / interactions. Monomer. Forms homooligomers upon binding to Ca(2+), Pb(2+) and Hg(2+) ions. Interacts with PDCD6 in a calcium-dependent manner. Interacts with PRKCD; interaction is enhanced by UV irradiation.

Subcellular location. Mitochondrion membrane. Mitochondrion inner membrane. Nucleus.

Tissue specificity. Expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, uterus, small intestine and peripheral blood lymphocytes. Not detected in testis, brain and liver.

Post-translational modifications. Phosphorylation at Thr-21 by PKC/PRKCD upon apoptotic stimuli enhances phospholipid scramblase activity. Palmitoylation regulates its localization to the cell membrane or the nucleus; trafficking to the cell membrane is dependent upon palmitoylation whereas in the absence of palmitoylation, localizes to the nucleus.

Activity regulation. Activated by Pb(2+) and Hg(2+) ions.

Domain organisation. The N-terminal proline-rich domain (PRD) is required for phospholipid scramblase activity.

Similarity. Belongs to the phospholipid scramblase family.

RefSeq proteins (6): NP_001188505, NP_001356336, NP_001356349, NP_001356350, NP_001356351, NP_065093* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005552	Scramblase	Family

Pfam: PF03803

Enzyme classification (BRENDA):

• EC 7.6.2.1 — P-type phospholipid transporter (BRENDA: 22 organisms, 260 substrates, 62 inhibitors, 53 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.016–2.215	41
P-NITROPHENYL PHOSPHATE	1.17–1.46	3
ACETYL PHOSPHATE	1.03–1.31	2
1-PALMITOYL-2-OLEOYL-SN-GLYCERO-3-PHOSPHO-L-SERI	0.111	1

Catalyzed reactions (Rhea), 5 shown:

• a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
• a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
• a cardiolipin(in) = a cardiolipin(out) (RHEA:38695)
• a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) (RHEA:38895)
• a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycerol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycerol)(out) (RHEA:39743)

UniProt features (26 total): mutagenesis site 7, lipid moiety-binding region 5, short sequence motif 4, compositionally biased region 2, region of interest 2, chain 1, topological domain 1, modified residue 1, sequence variant 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRY6-F1	71.73	0.39

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 (6): 21, 158, 160, 162, 163, 165

Mutagenesis-validated functional residues (7):

Position	Phenotype
21	fails to enhance apoptosis mediated by prkcd activators.
21	promotes apoptosis, more potent in lipid flippase activity.
49	reduces interaction with pdcd6. abolishes interaction with pdcd6; when associated with a-52.
49	no effect on the interaction with pdcd6.
49	reduces interaction with pdcd6.
52	abolishes interaction with pdcd6; when associated with a-49.
258	reduced phospholipid scramblase activity. reduced calcium and magnesium-binding. diminished apoptotic responsiveness. de

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 172 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_STEROL_HOMEOSTASIS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_LIPID_HOMEOSTASIS, GTGCCTT_MIR506, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, SOX9_B1, GOBP_APOPTOTIC_SIGNALING_PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (9): apoptotic process (GO:0006915), mitochondrial membrane organization (GO:0007006), plasma membrane phospholipid scrambling (GO:0017121), glucose homeostasis (GO:0042593), cholesterol homeostasis (GO:0042632), regulation of apoptotic process (GO:0042981), cellular response to lipopolysaccharide (GO:0071222), regulation of release of cytochrome c from mitochondria (GO:0090199), lipid transport (GO:0006869)

GO Molecular Function (8): magnesium ion binding (GO:0000287), calcium ion binding (GO:0005509), SH3 domain binding (GO:0017124), phospholipid scramblase activity (GO:0017128), lead ion binding (GO:0032791), mercury ion binding (GO:0045340), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion binding	3
mitochondrion	2
intracellular membrane-bounded organelle	2
cytoplasm	2
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
mitochondrion organization	1
membrane organization	1
plasma membrane organization	1
phospholipid translocation	1
carbohydrate homeostasis	1
sterol homeostasis	1
apoptotic process	1
regulation of programmed cell death	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
release of cytochrome c from mitochondria	1
regulation of mitochondrion organization	1
transport	1
lipid localization	1
protein domain specific binding	1
plasma membrane phospholipid scrambling	1
intramembrane lipid carrier activity	1
transition metal ion binding	1
calcium ion binding	1
protein binding	1
binding	1
organelle inner membrane	1
mitochondrial membrane	1
membrane	1
cell periphery	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLSCR3	NME4	O00746	642
PLSCR3	CHERP	Q8IWX8	607
PLSCR3	PLS3	P13797	574
PLSCR3	TAFAZZIN	Q16635	480
PLSCR3	ADIPOQ	Q15848	430
PLSCR3	XKR8	Q9H6D3	408
PLSCR3	TMEM256	Q8N2U0	404
PLSCR3	SEC31A	O94979	402
PLSCR3	ANO6	Q4KMQ2	396
PLSCR3	PNPLA8	Q9NP80	389
PLSCR3	PDCD6	O75340	388
PLSCR3	GCA	P28676	373
PLSCR3	TAMM41	Q96BW9	363
PLSCR3	LCLAT1	Q6UWP7	357
PLSCR3	LEP	P41159	355

IntAct

150 interactions, top by confidence:

A	B	Type	Score
PLSCR3	TRIP13	psi-mi:“MI:0915”(physical association)	0.780
TRIP13	PLSCR3	psi-mi:“MI:0915”(physical association)	0.780
STK16	PLSCR3	psi-mi:“MI:0915”(physical association)	0.720
PLSCR3	CATSPER1	psi-mi:“MI:0915”(physical association)	0.720
PLSCR3	STK16	psi-mi:“MI:0915”(physical association)	0.720
CATSPER1	PLSCR3	psi-mi:“MI:0915”(physical association)	0.720
PDCD6	PLSCR3	psi-mi:“MI:0915”(physical association)	0.680
PDCD6	PLSCR3	psi-mi:“MI:0407”(direct interaction)	0.680
PLSCR3	PDCD6	psi-mi:“MI:0915”(physical association)	0.680
PLSCR3	GCD7	psi-mi:“MI:0915”(physical association)	0.560
PLSCR3	TAE1	psi-mi:“MI:0915”(physical association)	0.560
TAE1	PLSCR3	psi-mi:“MI:0915”(physical association)	0.560
LCE4A	PLSCR3	psi-mi:“MI:0915”(physical association)	0.560
NAA10	PLSCR3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (60): PLSCR3 (Two-hybrid), PLSCR3 (Two-hybrid), CATSPER1 (Two-hybrid), PLSCR3 (Two-hybrid), PLSCR3 (Two-hybrid), PLSCR3 (Proximity Label-MS), PLSCR3 (Two-hybrid), PLSCR3 (Two-hybrid), PLSCR3 (Proximity Label-MS), PLSCR3 (Proximity Label-MS), PLSCR3 (Biochemical Activity), PLSCR3 (Proximity Label-MS), PLSCR3 (Proximity Label-MS), PLSCR3 (Proximity Label-MS), PLSCR3 (Two-hybrid)

ESM2 similar proteins: A0PG75, A2A3N6, A7T1N0, A8XKF2, B3H5L1, D4A2Z8, E9PU17, E9PX95, F1S5L4, F4IM84, O08619, O15162, O42857, O75386, P00488, P34751, P41879, P47140, P58195, P58196, P97564, Q05187, Q05B79, Q09306, Q0KHU5, Q28C60, Q3UW68, Q3ZBG9, Q5GJ77, Q5XI69, Q69RI8, Q6DCK1, Q6DNF3, Q6QBQ4, Q6S5G3, Q84M24, Q8IJH8, Q8VHK9, Q9DCW2, Q9FHK8

Diamond homologs: A0PG75, O15162, P58195, P58196, Q3ZBG9, Q6QBQ4, Q9DCW2, Q9JIZ9, Q9JJ00, Q9NRQ2, Q9NRY6, Q9NRY7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKCD	up-regulates	PLSCR3	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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
Keratinization	11	25.5×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	5	36.6×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

949 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7390793:CAC:C	acceptor_gain	1.0000
17:7390796:C:CA	acceptor_loss	1.0000
17:7390797:T:A	acceptor_loss	1.0000
17:7390800:C:CT	acceptor_gain	1.0000
17:7390801:A:T	acceptor_gain	1.0000
17:7390803:C:CT	acceptor_gain	1.0000
17:7390804:A:T	acceptor_gain	1.0000
17:7393465:A:AC	donor_gain	1.0000
17:7393465:ACTTT:A	donor_gain	1.0000
17:7393466:C:CA	donor_gain	1.0000
17:7393466:CTTT:C	donor_gain	1.0000
17:7393466:CTTTC:C	donor_gain	1.0000
17:7393506:CAAT:C	acceptor_gain	1.0000
17:7393508:AT:A	acceptor_gain	1.0000
17:7393509:TC:T	acceptor_loss	1.0000
17:7393510:C:CC	acceptor_gain	1.0000
17:7393510:CTGG:C	acceptor_loss	1.0000
17:7393511:T:A	acceptor_loss	1.0000
17:7390666:TC:T	donor_gain	0.9900
17:7390791:TTCAC:T	acceptor_gain	0.9900
17:7390794:AC:A	acceptor_gain	0.9900
17:7390795:CC:C	acceptor_gain	0.9900
17:7390796:C:CC	acceptor_gain	0.9900
17:7392949:CCAT:C	acceptor_gain	0.9900
17:7392950:CAT:C	acceptor_gain	0.9900
17:7392950:CATC:C	acceptor_gain	0.9900
17:7392953:C:CC	acceptor_gain	0.9900
17:7392953:C:T	acceptor_loss	0.9900
17:7392954:T:C	acceptor_loss	0.9900
17:7393145:T:TA	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000034077 (17:7391555 T>A), RS1001227605 (17:7396352 G>A), RS1001258739 (17:7396035 T>A), RS1001342535 (17:7392337 C>A,G), RS1001795132 (17:7392003 T>C), RS1002471812 (17:7389776 A>C), RS1003167333 (17:7395207 G>A), RS1003425108 (17:7391487 C>T), RS1004100189 (17:7394530 G>A), RS1004164373 (17:7394168 G>A,C), RS1004555114 (17:7394218 G>A,C), RS1005632886 (17:7392475 C>T), RS1006474594 (17:7395559 A>G), RS1006853960 (17:7395758 C>A,T), RS1006988094 (17:7392078 G>A)

Disease associations

OMIM: gene MIM:607611 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium	decreases reaction, increases abundance, increases palmitoylation, decreases expression	2
Cadmium Chloride	increases abundance, increases palmitoylation, decreases expression, decreases reaction	2
apocarotenal	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
aflatoxin B2	decreases methylation	1
pyrimidifen	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Ethanol	increases expression	1
Antimycin A	decreases expression	1
Arsenic	increases expression, affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Formaldehyde	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	increases methylation	1
Gold Compounds	increases expression	1
Sodium Selenite	increases expression	1
beta Carotene	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0LB	Ubigene HeLa PLSCR3 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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