LARP4B

Summary

LARP4B (La ribonucleoprotein 4B, HGNC:28987) is a protein-coding gene on chromosome 10p15.3, encoding La-related protein 4B (Q92615). Stimulates mRNA translation.

This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation.

Source: NCBI Gene 23185 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 146 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_015155

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28987
Approved symbol	LARP4B
Name	La ribonucleoprotein 4B
Location	10p15.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000107929
Ensembl biotype	protein_coding
OMIM	616513
Entrez	23185

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 19 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000316157, ENST00000406525, ENST00000412411, ENST00000440895, ENST00000448368, ENST00000469487, ENST00000476529, ENST00000481118, ENST00000608970, ENST00000609318, ENST00000614908, ENST00000688042, ENST00000688365, ENST00000689323, ENST00000690211, ENST00000690516, ENST00000693234, ENST00000860824, ENST00000860825, ENST00000860826, ENST00000860827, ENST00000860828, ENST00000912775, ENST00000912776, ENST00000912777, ENST00000912778, ENST00000958039

RefSeq mRNA: 2 — MANE Select: NM_015155 NM_001351277, NM_015155

CCDS: CCDS31131

Canonical transcript exons

ENST00000316157 — 18 exons

Exon	Start	End
ENSE00000687949	814742	814850
ENSE00000687952	814946	815070
ENSE00000687958	817725	817889
ENSE00000984835	820800	820845
ENSE00001148962	809497	813213
ENSE00001488707	825065	825316
ENSE00001504875	825764	825870
ENSE00001628768	842932	843068
ENSE00001679204	829385	829594
ENSE00001682733	844977	845055
ENSE00001697572	836403	836506
ENSE00001735944	830867	830977
ENSE00001799092	829681	829734
ENSE00003553969	863743	863883
ENSE00003554167	864123	864270
ENSE00003703032	885641	885760
ENSE00003705212	884447	884506
ENSE00003715578	931428	931705

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 94.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.2692 / max 505.7435, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107868	32.9789	1823
107870	1.3237	859
107866	0.9983	526
107867	0.9683	636

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	94.49	gold quality
adrenal tissue	UBERON:0018303	93.98	gold quality
gastrocnemius	UBERON:0001388	92.32	gold quality
muscle of leg	UBERON:0001383	92.00	gold quality
oocyte	CL:0000023	91.44	gold quality
lower esophagus mucosa	UBERON:0035834	91.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.38	gold quality
monocyte	CL:0000576	91.25	gold quality
endometrium epithelium	UBERON:0004811	91.22	gold quality
mononuclear cell	CL:0000842	91.01	gold quality
leukocyte	CL:0000738	90.88	gold quality
esophagus mucosa	UBERON:0002469	90.86	gold quality
sural nerve	UBERON:0015488	90.57	gold quality
right lung	UBERON:0002167	90.19	gold quality
skin of leg	UBERON:0001511	90.10	gold quality
skin of abdomen	UBERON:0001416	90.01	gold quality
upper lobe of left lung	UBERON:0008952	89.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	89.93	gold quality
body of stomach	UBERON:0001161	89.76	gold quality
heart left ventricle	UBERON:0002084	89.75	gold quality
bone marrow cell	CL:0002092	89.61	gold quality
upper lobe of lung	UBERON:0008948	89.61	gold quality
muscle organ	UBERON:0001630	89.48	gold quality
skeletal muscle organ	UBERON:0014892	89.48	gold quality
cardiac ventricle	UBERON:0002082	89.45	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.42	gold quality
vagina	UBERON:0000996	89.34	gold quality
right uterine tube	UBERON:0001302	89.33	gold quality
right adrenal gland cortex	UBERON:0035827	89.27	gold quality
minor salivary gland	UBERON:0001830	89.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TAL1

miRNA regulators (miRDB)

248 targeting LARP4B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-526A-5P	100.00	67.51	979
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-656-3P	100.00	72.15	2788

Literature-anchored findings (GeneRIF, showing 5)

• demonstrate that LARP4B plays an important role in the maintenance of LSCs and suggest that LARP4B may regulate the cell cycle of LSCs via suppressing the expression of cell cycle inhibitors (PMID:25534202)
• data identify LARP4B as a component of the mRNP code that influences the expression of its mRNA targets by affecting their stability (PMID:26001795)
• data provide strong evidence that LARP4B serves as a tumor-suppressor gene in glioma, encouraging further exploration of the RNA targets potentially involved in LARP4B-mediatd growth inhibition (PMID:26933087)
• miR-106b functions as an oncogene and regulates tumor viability and metastasis by targeting LARP4B in prostate cancer. (PMID:31173237)
• Increased LARP4B expression was related to poor overall survival in liver cancer. (PMID:31772683)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	larp4b	ENSDARG00000062146
mus_musculus	Larp4b	ENSMUSG00000033499
rattus_norvegicus	Larp4b	ENSRNOG00000015888
drosophila_melanogaster	Larp4B	FBGN0035424
drosophila_melanogaster	larp	FBGN0261618
caenorhabditis_elegans	larp-5	WBGENE00004147
caenorhabditis_elegans		WBGENE00020097

Paralogs (6): SSB (ENSG00000138385), LARP1B (ENSG00000138709), LARP1 (ENSG00000155506), LARP4 (ENSG00000161813), LARP6 (ENSG00000166173), LARP7 (ENSG00000174720)

Protein

Protein identifiers

La-related protein 4B — Q92615 (reviewed: Q92615)

Alternative names: La ribonucleoprotein domain family member 4B, La ribonucleoprotein domain family member 5, La-related protein 5

All UniProt accessions (11): Q92615, A0A087X183, A0A8I5KSR3, A0A8I5KUR6, A0A8I5KVU2, A0A8I5KWN8, B5MCU2, H0Y4V9, H0Y641, V9GYI5, X6RCG6

UniProt curated annotations — full annotation on UniProt →

Function. Stimulates mRNA translation.

Subunit / interactions. Interacts with PABPC1 (PubMed:20573744, Ref.23). Interacts with RACK1. Associates with polysomes via the 40S ribosomal subunit.

Subcellular location. Cytoplasm. Cytosol.

RefSeq proteins (2): NP_001338206, NP_055970* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006630	La_HTH	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034900	LARP4B_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR045180	La_dom_prot	Family
IPR058699	RRM_LARP4/4B	Domain

Pfam: PF05383, PF26088

UniProt features (38 total): modified residue 22, compositionally biased region 8, region of interest 5, domain 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3PTH	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92615-F1	53.41	0.15

Functional residue map

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

Post-translational modifications (22): 1, 244, 404, 419, 424, 434, 451, 488, 493, 498, 518, 524, 556, 566, 568, 601, 664, 718, 724, 727 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 176 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GGTGTGT_MIR329, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_3_UTR_MEDIATED_MRNA_STABILIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TATTATA_MIR374, CCATCCA_MIR432, AGGCACT_MIR5153P, PUJANA_CHEK2_PCC_NETWORK, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN

GO Biological Process (3): positive regulation of translation (GO:0045727), positive regulation of 3’-UTR-mediated mRNA stabilization (GO:1905870), regulation of translation (GO:0006417)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (5): nucleolus (GO:0005730), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
translation	2
positive regulation of gene expression	2
binding	2
regulation of translation	1
positive regulation of protein metabolic process	1
3’-UTR-mediated mRNA stabilization	1
regulation of 3’-UTR-mediated mRNA stabilization	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
nucleic acid binding	1
mRNA binding	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
cytoplasmic ribonucleoprotein granule	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LARP4B	LARP7	Q4G0J3	771
LARP4B	LARP6	Q9BRS8	742
LARP4B	PABPC1	P11940	634
LARP4B	DIP2C	Q9Y2E4	546
LARP4B	ZMYND11	Q15326	476
LARP4B	CRTC3	Q6UUV7	449
LARP4B	SSB	P05455	425
LARP4B	IDI2	Q9BXS1	414
LARP4B	RRM1	P23921	392
LARP4B	ZC3H12B	Q5HYM0	386
LARP4B	ZC3H8	Q8N5P1	377
LARP4B	OR2S2	Q9NQN1	375
LARP4B	SARNP	P82979	369
LARP4B	RACK1	P25388	367
LARP4B	BTAF1	O14981	356

IntAct

178 interactions, top by confidence:

A	B	Type	Score
RACK1	LARP4B	psi-mi:“MI:0915”(physical association)	0.880
LARP4B	RACK1	psi-mi:“MI:0914”(association)	0.880
RACK1	HELZ	psi-mi:“MI:0914”(association)	0.770
FAM136A	RBFOX3	psi-mi:“MI:0914”(association)	0.640
PABPC1	LARP4B	psi-mi:“MI:0407”(direct interaction)	0.590
LARP4B		psi-mi:“MI:0915”(physical association)	0.560
	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
MAGED1	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
ATXN1L	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	MAGED1	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
DR1	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	EIF2S3	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	ERN1	psi-mi:“MI:0915”(physical association)	0.560
FKBP1A	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
HSPA2	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
NDUFS1	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
KLK6	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	SARS1	psi-mi:“MI:0915”(physical association)	0.560
UQCRB	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
BAG6	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
KLF11	LARP4B	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	GTF3C3	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	BACE2	psi-mi:“MI:0915”(physical association)	0.560
LARP4B	F11R	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (326): LARP4B (Two-hybrid), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS), LARP4B (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IZ84, A0A1L8H8C0, A0A1L8HFX9, A2RUV4, F1LP90, F5HSE3, O43310, O60237, O75167, O88453, P41110, P61406, Q12830, Q1LVF3, Q2HJG4, Q2PFD7, Q3TLH4, Q5RAK6, Q5ZMS6, Q66HC1, Q6A0A2, Q6NRP6, Q6NZL0, Q6P1U3, Q6PKG0, Q75N33, Q7TN02, Q7TPM1, Q7YZA2, Q7Z6E9, Q80TN7, Q80XI3, Q86UR5, Q86US8, Q8IVL0, Q8IVL1, Q8K0V4, Q8N4C8, Q90YL3, Q90YY5

Diamond homologs: J9VT60, O80567, P05455, P10881, P28048, P28049, P32067, P33399, P38656, P40796, P87058, Q05CL8, Q0V7U7, Q26457, Q4G0J3, Q4R627, Q5XI01, Q6A0A2, Q71RC2, Q7ZWE3, Q8BN59, Q8BWW4, Q8RWR2, Q92615, Q93ZV7, Q940X9, Q94A38, Q9BRS8, D5MCN2, P25567, Q12034, Q28G87, Q659C4, Q6PKG0, Q6ZQ58, Q94K80, Q9I7T7, Q9P6K0, Q9VAW5, Q9LHL3

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
LARP4B	up-regulates	Stress_granules
LARP4B	“up-regulates activity”	PABPC1	binding
RACK1	“up-regulates activity”	LARP4B	binding
LARP4B	up-regulates	Protein_synthesis

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 164 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
Nonsense-Mediated Decay (NMD)	8	19.2×	8e-07
Eukaryotic Translation Initiation	6	19.1×	2e-05
Cap-dependent Translation Initiation	6	19.1×	2e-05
SARS-CoV-1 modulates host translation machinery	6	19.1×	2e-05
Formation of the ternary complex, and subsequently, the 43S complex	8	17.8×	1e-06
Translation initiation complex formation	9	17.7×	3e-07
Eukaryotic Translation Elongation	6	17.2×	3e-05
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	6	16.8×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of translation	11	16.2×	3e-08
cytoplasmic translation	11	15.3×	4e-08
translational initiation	5	13.5×	5e-03
translation	15	11.6×	3e-09
ribosomal small subunit biogenesis	6	10.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	100
Likely benign	14
Benign	3

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
980372	GRCh37/hg19 10p15.3(chr10:116045-954771)x1	Pathogenic
1801767	NM_015155.3(LARP4B):c.1345G>T (p.Val449Phe)	Likely pathogenic

SpliceAI

4492 predictions. Top by Δscore:

Variant	Effect	Δscore
10:814937:AATAC:A	donor_loss	1.0000
10:814938:ATAC:A	donor_loss	1.0000
10:814940:AC:A	donor_loss	1.0000
10:814941:CT:C	donor_loss	1.0000
10:814942:TCA:T	donor_loss	1.0000
10:814943:CACTC:C	donor_loss	1.0000
10:814944:A:AC	donor_gain	1.0000
10:814944:ACT:A	donor_gain	1.0000
10:814945:C:CT	donor_gain	1.0000
10:814945:CT:C	donor_gain	1.0000
10:814945:CTC:C	donor_gain	1.0000
10:814945:CTCG:C	donor_gain	1.0000
10:815067:GGGT:G	acceptor_gain	1.0000
10:815069:GT:G	acceptor_gain	1.0000
10:815069:GTCTG:G	acceptor_loss	1.0000
10:815071:C:CA	acceptor_loss	1.0000
10:815071:C:CC	acceptor_gain	1.0000
10:815072:T:G	acceptor_loss	1.0000
10:817723:AC:A	donor_gain	1.0000
10:817724:CC:C	donor_gain	1.0000
10:817777:T:TA	donor_gain	1.0000
10:820798:A:AC	donor_gain	1.0000
10:820799:C:CC	donor_gain	1.0000
10:829381:GTA:G	donor_loss	1.0000
10:829382:TA:T	donor_loss	1.0000
10:829676:CTTA:C	donor_loss	1.0000
10:829677:TTA:T	donor_loss	1.0000
10:829678:TACC:T	donor_loss	1.0000
10:829679:A:AC	donor_gain	1.0000
10:829679:ACCTT:A	donor_loss	1.0000

AlphaMissense

4798 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:829583:T:A	K309N	1.000
10:829583:T:G	K309N	1.000
10:829584:T:A	K309I	1.000
10:829585:T:C	K309E	1.000
10:829585:T:G	K309Q	1.000
10:829587:A:G	I308T	1.000
10:829587:A:T	I308K	1.000
10:829590:C:G	R307P	1.000
10:829685:A:T	I304N	1.000
10:829699:A:C	F299L	1.000
10:829699:A:T	F299L	1.000
10:829700:A:G	F299S	1.000
10:829701:A:G	F299L	1.000
10:829718:C:G	R293P	1.000
10:829721:A:C	L292R	1.000
10:829721:A:G	L292P	1.000
10:829721:A:T	L292H	1.000
10:829731:A:C	Y289D	1.000
10:830874:G:T	A285E	1.000
10:830875:C:G	A285P	1.000
10:830891:A:C	F279L	1.000
10:830891:A:T	F279L	1.000
10:830892:A:G	F279S	1.000
10:830893:A:G	F279L	1.000
10:830893:A:T	F279I	1.000
10:830898:A:T	I277N	1.000
10:830900:A:C	F276L	1.000
10:830900:A:T	F276L	1.000
10:830901:A:C	F276C	1.000
10:830901:A:G	F276S	1.000

dbSNP variants (sampled 300 via entrez): RS1000008162 (10:948484 G>A), RS1000018423 (10:840441 C>T), RS1000032958 (10:957265 C>T), RS1000042873 (10:880064 G>A), RS1000074796 (10:816806 C>T), RS1000095604 (10:891172 CAT>C), RS1000112401 (10:850491 C>CTGA), RS1000133424 (10:834604 T>C), RS1000137732 (10:886259 C>T), RS1000147585 (10:891381 A>C), RS1000234045 (10:808773 A>G), RS1000240402 (10:987970 C>A,T), RS1000256172 (10:875439 TC>T), RS1000258533 (10:931820 C>G,T), RS1000262817 (10:971760 T>C)

Disease associations

OMIM: gene MIM:616513 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): myoepithelial tumor (MONDO:0002380), autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST004618_80	White blood cell count (basophil)	1.000000e-20
GCST004623_131	Neutrophil percentage of granulocytes	7.000000e-20
GCST004624_172	Sum eosinophil basophil counts	7.000000e-29
GCST004631_50	Basophil percentage of white cells	3.000000e-18
GCST004634_34	Basophil percentage of granulocytes	2.000000e-15
GCST006083_1	Prostate cancer (advanced)	5.000000e-06
GCST006085_42	Prostate cancer	9.000000e-13
GCST006089_4	Prostate cancer (early onset)	4.000000e-06
GCST007576_240	Chronotype	2.000000e-10
GCST007876_58	Estimated glomerular filtration rate	6.000000e-24
GCST008058_200	Estimated glomerular filtration rate	3.000000e-68
GCST008059_115	Estimated glomerular filtration rate	1.000000e-57
GCST008060_23	Estimated glomerular filtration rate	5.000000e-06
GCST008062_91	Blood urea nitrogen levels	1.000000e-06
GCST008064_28	Chronic kidney disease	1.000000e-10
GCST008097_34	Bisphosphonate-associated atypical femoral fracture	7.000000e-07
GCST008745_73	Estimated glomerular filtration rate in non-diabetics	2.000000e-21
GCST008747_187	Estimated glomerular filtration rate	9.000000e-38
GCST008747_68	Estimated glomerular filtration rate	3.000000e-37
GCST012490_582	Femur bone mineral density x serum urate levels interaction	6.000000e-11
GCST90002379_79	Basophil count	5.000000e-89
GCST90002380_90	Basophil percentage of white cells	1.000000e-82
GCST90002406_293	Reticulocyte fraction of red cells	5.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005090	basophil count
EFO:0007994	neutrophil percentage of granulocytes
EFO:0004842	eosinophil count
EFO:0007992	basophil percentage of leukocytes
EFO:0007995	basophil percentage of granulocytes
EFO:0008328	chronotype measurement
EFO:0009958	response to bisphosphonate
EFO:0009960	atypical femoral fracture
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases methylation	2
sodium arsenite	affects binding, decreases reaction, increases reaction, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	increases expression	1
beta-lapachone	decreases expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
coumarin	affects phosphorylation	1
beta-methylcholine	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Gemcitabine	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Calcitriol	decreases expression	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1VQ	Abcam HeLa LARP4B KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder