LAPTM5

Summary

LAPTM5 (lysosomal protein transmembrane 5, HGNC:29612) is a protein-coding gene on chromosome 1p35.2, encoding Lysosomal-associated transmembrane protein 5 (Q13571). May have a special functional role during embryogenesis and in adult hematopoietic cells.

This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis.

Source: NCBI Gene 7805 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_006762

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29612
Approved symbol	LAPTM5
Name	lysosomal protein transmembrane 5
Location	1p35.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000162511
Ensembl biotype	protein_coding
OMIM	601476
Entrez	7805

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000294507, ENST00000464569, ENST00000476492, ENST00000875062, ENST00000875063, ENST00000875064, ENST00000875065, ENST00000953433

RefSeq mRNA: 1 — MANE Select: NM_006762 NM_006762

CCDS: CCDS337

Canonical transcript exons

ENST00000294507 — 8 exons

Exon	Start	End
ENSE00001247745	30732469	30733917
ENSE00001887447	30757659	30757774
ENSE00003459028	30741640	30741716
ENSE00003472478	30737604	30737699
ENSE00003482958	30738940	30739062
ENSE00003514371	30742456	30742549
ENSE00003550036	30739809	30739937
ENSE00003563654	30735173	30735265

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 274.4966 / max 7683.7875, expressed in 1012 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11421	138.1552	817
11422	128.2776	917
11423	7.6098	601
11387	0.1842	86
11386	0.1224	77
11424	0.0842	49
11408	0.0242	12
11410	0.0217	6
11409	0.0116	4
11411	0.0057	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	99.69	gold quality
leukocyte	CL:0000738	99.65	gold quality
monocyte	CL:0000576	99.64	gold quality
mononuclear cell	CL:0000842	99.64	gold quality
granulocyte	CL:0000094	99.63	gold quality
trabecular bone tissue	UBERON:0002483	99.55	gold quality
vermiform appendix	UBERON:0001154	99.50	gold quality
bone marrow	UBERON:0002371	99.50	gold quality
spleen	UBERON:0002106	99.45	gold quality
lymph node	UBERON:0000029	99.30	gold quality
bone element	UBERON:0001474	99.28	gold quality
thymus	UBERON:0002370	99.27	gold quality
periodontal ligament	UBERON:0008266	99.26	gold quality
lower lobe of lung	UBERON:0008949	99.11	gold quality
right lung	UBERON:0002167	99.02	gold quality
bone marrow cell	CL:0002092	98.94	gold quality
caecum	UBERON:0001153	98.87	gold quality
upper lobe of lung	UBERON:0008948	98.66	gold quality
upper lobe of left lung	UBERON:0008952	98.63	gold quality
epithelium of nasopharynx	UBERON:0001951	98.61	gold quality
gall bladder	UBERON:0002110	98.57	gold quality
layer of synovial tissue	UBERON:0007616	98.52	gold quality
ileal mucosa	UBERON:0000331	98.36	gold quality
synovial joint	UBERON:0002217	97.86	gold quality
inferior vagus X ganglion	UBERON:0005363	97.78	gold quality
palpebral conjunctiva	UBERON:0001812	97.75	gold quality
visceral pleura	UBERON:0002401	97.73	gold quality
superficial temporal artery	UBERON:0001614	97.63	gold quality
decidua	UBERON:0002450	97.48	gold quality
lung	UBERON:0002048	97.45	gold quality

Single-cell (SCXA)

Detected in 47 experiment(s), a significant marker in 44.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	3428.73
E-HCAD-4	yes	2657.47
E-HCAD-6	yes	2505.71
E-CURD-112	yes	2223.03
E-GEOD-130473	yes	2044.29
E-CURD-126	yes	2022.09
E-GEOD-84465	yes	1847.88
E-CURD-114	yes	1365.08
E-MTAB-8495	yes	1314.53
E-GEOD-75688	yes	1129.78
E-GEOD-137537	yes	1111.80
E-CURD-79	yes	806.74
E-MTAB-9841	yes	693.76
E-MTAB-9388	yes	612.94
E-MTAB-10662	yes	494.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BLNK, RUNX2

miRNA regulators (miRDB)

71 targeting LAPTM5, 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-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-7112-5P	99.59	65.76	104
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-100-3P	99.20	67.33	672

Literature-anchored findings (GeneRIF, showing 19)

• LAPTM5 shows stage-specific expression during B cell differentiation. It may be involved in B cell malignancies. (PMID:12527926)
• results suggest that loss of E3 gene expression might be a crucial event during the progression of human MM (PMID:12886255)
• LAPTM5-mediated programmed cell death is closely associated with the spontaneous regression of neuroblastomas (PMID:19787053)
• LAPTM5 is a substrate of the ITCH-mediated degradation and its protein level is negatively regulated by ITCH (PMID:22009753)
• The interaction of LAPTM5 with CD1e and their colocalization in antigen processing compartments both suggest that LAPTM5 might influence the role of CD1e in the presentation of lipid antigens. (PMID:22880058)
• Insufficient expression of LAPTM5 may take part in the pathogenesis of systemic lupus erythematosus (SLE) and contribute to the severity of the disease, none of LAPTM5 polymorphisms contributes significantly to SLE susceptibility in a Chinese population. (PMID:25998573)
• These findings suggest that the inactivation of LAPTM5 may contribute to tumorigenesis in a subset of human cancers (PMID:27058622)
• Taken together, our results suggested that decreased LAPTM5 inhibited proliferation and viability, as well as induced G0/G1 cell cycle arrest possibly via deactivation of ERK1/2 and p38 in BCa cells (PMID:27922670)
• Vpr counteracts the restriction of LAPTM5 to promote HIV-1 infection in macrophages. (PMID:34140527)
• LCDR regulates the integrity of lysosomal membrane by hnRNP K-stabilized LAPTM5 transcript and promotes cell survival. (PMID:35091468)
• Comprehensive bioinformatics analysis identifies LAPTM5 as a potential blood biomarker for hypertensive patients with left ventricular hypertrophy. (PMID:35157609)
• LAPTM5 Restricts HIV-1 Infection in Dendritic Cells and Is Counteracted by Vpr. (PMID:35225654)
• Spinespecific downregulation of LAPTM5 expression promotes the progression and spinal metastasis of estrogen receptorpositive breast cancer by activating glutaminedependent mTOR signaling. (PMID:35294039)
• Lysosomal protein transmembrane 5 promotes lung-specific metastasis by regulating BMPR1A lysosomal degradation. (PMID:35842443)
• Genome-Scale CRISPR screen identifies LAPTM5 driving lenvatinib resistance in hepatocellular carcinoma. (PMID:36037300)
• LAPTM5 mediates immature B cell apoptosis and B cell tolerance by regulating the WWP2-PTEN-AKT pathway. (PMID:36037365)
• LAPTM5 regulated by FOXP3 promotes the malignant phenotypes of breast cancer through activating the Wnt/betacatenin pathway. (PMID:36799186)
• ZKSCAN5 activates LAPTM5 expression by recruiting SETD7 to promote metastasis in pancreatic ductal adenocarcinoma. (PMID:38018874)
• The function and mechanism of LAPTM5 in diseases. (PMID:39096616)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Laptm5	ENSMUSG00000028581
rattus_norvegicus	Laptm5	ENSRNOG00000011054
drosophila_melanogaster	CG14767	FBGN0040777

Paralogs (2): LAPTM4A (ENSG00000068697), LAPTM4B (ENSG00000104341)

Protein

Protein identifiers

Lysosomal-associated transmembrane protein 5 — Q13571 (reviewed: Q13571)

Alternative names: Lysosomal-associated multitransmembrane protein 5, Retinoic acid-inducible E3 protein

All UniProt accessions (2): Q13571, Q5TBB8

UniProt curated annotations — full annotation on UniProt →

Function. May have a special functional role during embryogenesis and in adult hematopoietic cells.

Subunit / interactions. Binds to ubiquitin.

Subcellular location. Lysosome membrane.

Tissue specificity. Preferentially expressed in adult hematopoietic tissues. High levels in lymphoid and myeloid tissues. Highly expressed in peripheral blood leukocytes, thymus, spleen and lung, followed by placenta, liver and kidney.

Induction. By retinoic acid.

Similarity. Belongs to the LAPTM4/LAPTM5 transporter family.

RefSeq proteins (1): NP_006753* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004687	LAPTM4/5	Family
IPR018396	LAPTM_4A/5	Family
IPR051115	LAPTM_transporter	Family

Pfam: PF03821

UniProt features (9 total): transmembrane region 5, chain 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13571-F1	69.70	0.03

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 259

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 479 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, MODULE_52, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, WALLACE_PROSTATE_CANCER_RACE_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, IIZUKA_LIVER_CANCER_EARLY_RECURRENCE, GOBP_LYSOSOMAL_TRANSPORT, MCLACHLAN_DENTAL_CARIES_UP, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GNF2_BNIP2

GO Biological Process (28): defense response to tumor cell (GO:0002357), positive regulation of cytokine production involved in immune response (GO:0002720), protein targeting to lysosome (GO:0006622), intracellular protein transport (GO:0006886), induction of programmed cell death (GO:0012502), positive regulation of protein ubiquitination (GO:0031398), negative regulation of type II interferon production (GO:0032689), negative regulation of interleukin-2 production (GO:0032703), positive regulation of interleukin-12 production (GO:0032735), positive regulation of interleukin-6 production (GO:0032755), positive regulation of MAPK cascade (GO:0043410), negative regulation of activated T cell proliferation (GO:0046007), negative regulation of T cell receptor signaling pathway (GO:0050860), negative regulation of T cell activation (GO:0050868), negative regulation of B cell activation (GO:0050869), positive regulation of macrophage cytokine production (GO:0060907), Golgi to lysosome transport (GO:0090160), intrinsic apoptotic signaling pathway (GO:0097193), positive regulation of lysosomal membrane permeability (GO:0097214), negative regulation of pre-B cell receptor expression (GO:0140646), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265), negative regulation of autophagic cell death (GO:1904093), cellular response to leukemia inhibitory factor (GO:1990830), positive regulation of ubiquitin-dependent protein catabolic process (GO:2000060), positive regulation of receptor catabolic process (GO:2000646), protein localization to lysosome (GO:0061462), obsolete positive regulation of proteolysis involved in protein catabolic process (GO:1903052)

GO Molecular Function (4): ubiquitin protein ligase binding (GO:0031625), protein sequestering activity (GO:0140311), protein binding (GO:0005515), enzyme binding (GO:0019899)

GO Cellular Component (10): lysosome (GO:0005764), lysosomal membrane (GO:0005765), cytosol (GO:0005829), plasma membrane (GO:0005886), transport vesicle (GO:0030133), cytoplasmic vesicle (GO:0031410), protein-containing complex (GO:0032991), perinuclear region of cytoplasm (GO:0048471), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
positive regulation of cytokine production	3
cytoplasm	3
lysosomal transport	2
negative regulation of cytokine production	2
negative regulation of lymphocyte activation	2
protein binding	2
response to tumor cell	1
defense response	1
cytokine production involved in immune response	1
positive regulation of production of molecular mediator of immune response	1
regulation of cytokine production involved in immune response	1
protein targeting to vacuole	1
protein localization to lysosome	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
positive regulation of programmed cell death	1
protein ubiquitination	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
type II interferon production	1
regulation of type II interferon production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
interleukin-12 production	1
regulation of interleukin-12 production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
negative regulation of T cell proliferation	1
regulation of activated T cell proliferation	1
activated T cell proliferation	1
T cell receptor signaling pathway	1
regulation of T cell receptor signaling pathway	1
negative regulation of antigen receptor-mediated signaling pathway	1
T cell activation	1
regulation of T cell activation	1

Protein interactions and networks

STRING

1402 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LAPTM5	SDC3	O75056	778
LAPTM5	LAMP2	P13473	754
LAPTM5	CD63	P08962	687
LAPTM5	LAMP1	P11279	671
LAPTM5	CD53	P19397	668
LAPTM5	GARS1	P41250	639
LAPTM5	C1QA	P02745	604
LAPTM5	SRGN	P10124	588
LAPTM5	NEDD4	P46934	585
LAPTM5	ARHGDIB	P52566	556
LAPTM5	YARS1	P54577	549
LAPTM5	GGA3	Q9NZ52	538
LAPTM5	HCK	P08631	537
LAPTM5	GLIPR1	P48060	520
LAPTM5	CD48	P09326	492

IntAct

67 interactions, top by confidence:

A	B	Type	Score
LAPTM5	LDLRAD1	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	DISP1	psi-mi:“MI:0915”(physical association)	0.560
LDLRAD1	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
DISP1	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
UBE2J1	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
MRPL18	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	KIR3DL3	psi-mi:“MI:0915”(physical association)	0.560
VAMP1	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	AIG1	psi-mi:“MI:0915”(physical association)	0.560
CYB5R3	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	UBE2J1	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	MRPL18	psi-mi:“MI:0915”(physical association)	0.560
HMOX2	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	RPRM	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	ARLN	psi-mi:“MI:0915”(physical association)	0.560
GYPA	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	RTP2	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	INSIG2	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	CLDN19	psi-mi:“MI:0915”(physical association)	0.560
LAPTM5	NEDD4	psi-mi:“MI:0915”(physical association)	0.550
NEDD4L	LAPTM5	psi-mi:“MI:0915”(physical association)	0.550
LAPTM5	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (89): DISP1 (Two-hybrid), LDLRAD1 (Two-hybrid), LAPTM5 (Synthetic Growth Defect), LAPTM5 (Two-hybrid), LAPTM5 (Two-hybrid), LAPTM5 (Two-hybrid), LAPTM5 (Two-hybrid), LAPTM5 (Two-hybrid), LAPTM5 (Two-hybrid), CLDN19 (Two-hybrid), C4orf3 (Two-hybrid), GYPA (Two-hybrid), RPRM (Two-hybrid), RTP2 (Two-hybrid), UBE2J1 (Two-hybrid)

ESM2 similar proteins: A0A1B0GTI8, A6NN92, E9Q9H8, F6RWY9, O18968, O64761, O70610, O75712, O93533, O95377, O95452, P08033, P08034, P08983, P25305, P28230, P28231, P28232, P28233, P36380, P49111, P51916, P70689, P79826, Q02738, Q02739, Q0IIL2, Q13571, Q2KJA5, Q3SZ36, Q3T110, Q3TUD9, Q49LS6, Q4VV71, Q58D78, Q5E9Z5, Q5F410, Q5JW98, Q5REZ0, Q60HF7

Diamond homologs: Q13571, Q2KJA5, Q5REZ0, Q61168

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ITCH	“down-regulates quantity by destabilization”	LAPTM5	polyubiquitination
NEDD4	“up-regulates activity”	LAPTM5	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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
Antigen processing: Ubiquitination & Proteasome degradation	6	9.3×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

949 predictions. Top by Δscore:

Variant	Effect	Δscore
1:30733914:CCAC:C	acceptor_gain	1.0000
1:30733915:CACC:C	acceptor_gain	1.0000
1:30733915:CACCT:C	acceptor_loss	1.0000
1:30733917:CCT:C	acceptor_loss	1.0000
1:30733918:C:CA	acceptor_loss	1.0000
1:30733919:T:A	acceptor_loss	1.0000
1:30735167:ACTC:A	donor_loss	1.0000
1:30735170:CA:C	donor_loss	1.0000
1:30735172:CCTT:C	donor_gain	1.0000
1:30735261:TAGAC:T	acceptor_gain	1.0000
1:30735264:ACCT:A	acceptor_loss	1.0000
1:30735266:C:CC	acceptor_gain	1.0000
1:30735266:CTGGA:C	acceptor_loss	1.0000
1:30735267:T:C	acceptor_loss	1.0000
1:30737599:CTCA:C	donor_loss	1.0000
1:30737602:A:AC	donor_gain	1.0000
1:30737602:AC:A	donor_gain	1.0000
1:30737603:C:CA	donor_gain	1.0000
1:30737603:CC:C	donor_gain	1.0000
1:30737603:CCT:C	donor_gain	1.0000
1:30737603:CCTT:C	donor_gain	1.0000
1:30737603:CCTTG:C	donor_gain	1.0000
1:30737695:TAATT:T	acceptor_gain	1.0000
1:30737696:AATT:A	acceptor_gain	1.0000
1:30737697:ATT:A	acceptor_gain	1.0000
1:30737698:TT:T	acceptor_gain	1.0000
1:30737700:C:CC	acceptor_gain	1.0000
1:30737700:C:CG	acceptor_loss	1.0000
1:30737706:C:CT	acceptor_gain	1.0000
1:30738935:CTCA:C	donor_loss	1.0000

AlphaMissense

1722 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:30741667:G:C	S77R	0.999
1:30741667:G:T	S77R	0.999
1:30741669:T:G	S77R	0.999
1:30742541:G:C	S32R	0.997
1:30742541:G:T	S32R	0.997
1:30742543:T:G	S32R	0.997
1:30738991:G:C	S153R	0.996
1:30738991:G:T	S153R	0.996
1:30738993:T:G	S153R	0.996
1:30739911:G:C	F95L	0.995
1:30739911:G:T	F95L	0.995
1:30739913:A:G	F95L	0.995
1:30739891:T:G	D102A	0.994
1:30739892:C:G	D102H	0.994
1:30737604:C:A	K202N	0.990
1:30737604:C:G	K202N	0.990
1:30739891:T:A	D102V	0.990
1:30741650:C:T	G83D	0.990
1:30741651:C:G	G83R	0.990
1:30739903:A:G	L98P	0.989
1:30757672:G:T	A25D	0.989
1:30739890:G:C	D102E	0.988
1:30739890:G:T	D102E	0.988
1:30739891:T:C	D102G	0.988
1:30741659:A:G	L80P	0.988
1:30738996:A:G	C152R	0.985
1:30739013:A:G	L146P	0.985
1:30739017:A:G	C145R	0.984
1:30739912:A:G	F95S	0.984
1:30739921:A:G	L92P	0.983

dbSNP variants (sampled 300 via entrez): RS1000101927 (1:30737240 C>A), RS1000112754 (1:30745735 C>T), RS1000351640 (1:30742023 G>C), RS1000396071 (1:30747418 C>A), RS1000413756 (1:30746788 A>T), RS1000663150 (1:30756934 C>G,T), RS1000933948 (1:30732366 G>A,T), RS1000956748 (1:30743173 C>A,G,T), RS1001025265 (1:30737006 C>T), RS1001108371 (1:30756906 C>A,T), RS1001109033 (1:30738328 G>C), RS1001118867 (1:30738531 C>T), RS1001387855 (1:30743470 C>T), RS1001395677 (1:30748670 C>A,G,T), RS1001477807 (1:30756535 T>C)

Disease associations

OMIM: gene MIM:601476 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003771_22	Loneliness	2.000000e-06
GCST003772_1	Loneliness (linear analysis)	9.000000e-07
GCST90002398_47	Neutrophil count	1.000000e-18
GCST90002407_394	White blood cell count	7.000000e-20

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007865	loneliness measurement
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, decreases methylation, increases expression, increases methylation	4
Tretinoin	affects cotreatment, increases expression, decreases expression	4
Aflatoxin B1	affects expression, increases expression	3
sodium arsenite	affects expression, decreases expression	2
(+)-JQ1 compound	decreases expression	2
Arsenic Trioxide	increases expression, affects cotreatment	2
Air Pollutants	increases abundance, decreases expression, affects expression	2
Formaldehyde	decreases expression, increases expression	2
Nickel	increases expression	2
Valproic Acid	affects expression, decreases expression, increases methylation	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
Esketamine	increases expression	1
sotorasib	increases expression, affects cotreatment	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
lead acetate	decreases expression	1
terbufos	decreases methylation	1
beta-lapachone	decreases expression	1
methylparaben	decreases expression	1
zinc chromate	increases abundance, increases expression	1
periodate-oxidized adenosine	affects expression	1
cupric chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases expression, increases abundance	1
nutlin 3	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases 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_E0GB	Ubigene HeLa LAPTM5 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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