ELAVL2

Summary

ELAVL2 (ELAV like RNA binding protein 2, HGNC:3313) is a protein-coding gene on chromosome 9p21.3, encoding ELAV-like protein 2 (Q12926). RNA-binding protein that binds to the 3’ untranslated region (3’UTR) of target mRNAs.

In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3’ UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3’ UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms.

Source: NCBI Gene 1993 — RefSeq curated summary.

At a glance

• GWAS associations: 35
• Clinical variants (ClinVar): 48 total
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_004432

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3313
Approved symbol	ELAVL2
Name	ELAV like RNA binding protein 2
Location	9p21.3
Locus type	gene with protein product
Status	Approved
Aliases	HuB, HEL-N1
Ensembl gene	ENSG00000107105
Ensembl biotype	protein_coding
OMIM	601673
Entrez	1993

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 36 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000223951, ENST00000380110, ENST00000380117, ENST00000397312, ENST00000423281, ENST00000440102, ENST00000462649, ENST00000544538, ENST00000886216, ENST00000886217, ENST00000886218, ENST00000886219, ENST00000886220, ENST00000886221, ENST00000886222, ENST00000886223, ENST00000886224, ENST00000886225, ENST00000886226, ENST00000886227, ENST00000921648, ENST00000921649, ENST00000921650, ENST00000921651, ENST00000921652, ENST00000921653, ENST00000921654, ENST00000921655, ENST00000921656, ENST00000921657, ENST00000921658, ENST00000921659, ENST00000921660, ENST00000921661, ENST00000921662, ENST00000921663, ENST00000955829

RefSeq mRNA: 41 — MANE Select: NM_004432 NM_001171195, NM_001171197, NM_001351455, NM_001351456, NM_001351457, NM_001351458, NM_001351459, NM_001351460, NM_001351461, NM_001351462, NM_001351463, NM_001351464, NM_001351465, NM_001351466, NM_001351467, NM_001351468, NM_001351469, NM_001351470, NM_001351471, NM_001351472, NM_001351473, NM_001351474, NM_001351475, NM_001351476, NM_001351477, NM_001351478, NM_001385693, NM_001385694, NM_001385695, NM_001385696, NM_001385697, NM_001385698, NM_001385699, NM_001385700, NM_001385701, NM_001385702, NM_001385703, NM_001385704, NM_001385705, NM_001385707, NM_004432

CCDS: CCDS55298, CCDS6515, CCDS87645

Canonical transcript exons

ENST00000397312 — 7 exons

Exon	Start	End
ENSE00001528157	23825806	23826240
ENSE00003517233	23731022	23731125
ENSE00003888758	23704918	23705071
ENSE00003891748	23762006	23762249
ENSE00003892764	23693448	23693486
ENSE00003894202	23701379	23701604
ENSE00003895823	23690104	23692884

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 98.75.

FANTOM5 (CAGE): breadth broad, TPM avg 9.3693 / max 348.0820, expressed in 538 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100296	2.4550	334
100290	2.1255	419
100295	2.0622	266
100294	1.2349	225
100293	0.3651	116
100297	0.3387	157
100289	0.2151	64
100300	0.1678	100
100291	0.1314	77
100299	0.1166	74

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	98.75	gold quality
substantia nigra pars compacta	UBERON:0001965	98.72	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.69	gold quality
middle temporal gyrus	UBERON:0002771	98.12	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.81	gold quality
ganglionic eminence	UBERON:0004023	97.57	gold quality
endothelial cell	CL:0000115	97.24	gold quality
cortical plate	UBERON:0005343	96.85	gold quality
pons	UBERON:0000988	96.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.44	gold quality
postcentral gyrus	UBERON:0002581	96.44	gold quality
parietal lobe	UBERON:0001872	96.36	gold quality
superior vestibular nucleus	UBERON:0007227	96.31	gold quality
superior frontal gyrus	UBERON:0002661	95.38	gold quality
secondary oocyte	CL:0000655	95.04	gold quality
dorsal root ganglion	UBERON:0000044	94.90	gold quality
entorhinal cortex	UBERON:0002728	94.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.62	gold quality
buccal mucosa cell	CL:0002336	93.40	silver quality
primary visual cortex	UBERON:0002436	93.38	gold quality
ventral tegmental area	UBERON:0002691	93.16	gold quality
occipital lobe	UBERON:0002021	92.39	gold quality
frontal pole	UBERON:0002795	91.26	gold quality
cerebellar vermis	UBERON:0004720	91.09	gold quality
sperm	CL:0000019	90.96	gold quality
prefrontal cortex	UBERON:0000451	90.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.97	gold quality
oocyte	CL:0000023	89.57	gold quality
frontal cortex	UBERON:0001870	89.03	gold quality
neocortex	UBERON:0001950	89.01	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	1337.58
E-GEOD-124263	yes	609.39
E-GEOD-134144	yes	534.50
E-MTAB-11121	yes	428.26
E-HCAD-35	yes	70.06
E-HCAD-25	yes	39.80
E-HCAD-5	yes	26.90
E-ANND-3	yes	5.38

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EOMES, TBX21

miRNA regulators (miRDB)

289 targeting ELAVL2, 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-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
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-4481	100.00	66.42	1669
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-373-5P	99.98	75.36	4753

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 11)

• the mutually antagonistic action of two RNA-binding proteins, Hu and hnRNP K, control the timing of the switch from proliferation to neuronal differentiation through the post-transcriptional regulation of p21 mRNA (PMID:15671036)
• increased level of mRNA transcripts detected in Small Cell Lung Cancer patients (PMID:18607064)
• Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers (PMID:23512105)
• ELAVL2-regulated co-expression networks are also enriched for neurodevelopmental and synaptic genes, and include genes with human-specific patterns of expression in the frontal pole. Together, these data suggest that ELAVL2 regulation of transcript expression is critical for neuronal function and clinically relevant to autism (PMID:27260404)
• HuB plays a major role in the activation of proto-oncogenes. (PMID:31358321)
• Targeting hub genes and pathways of innate immune response in COVID-19: A network biology perspective. (PMID:32599245)
• HuB and HuD repress telomerase activity by dissociating HuR from TERC. (PMID:33589924)
• Bioinformatic Analysis Identified Hub Genes Associated with Heterocyclic Amines Induced Cytotoxicity of Peripheral Blood Mononuclear Cells. (PMID:34946837)
• Identification of Hub Genes of Lung Adenocarcinoma Based on Weighted Gene Co-Expression Network in Chinese Population. (PMID:36032660)
• Identification of Hub Genes Associated with Resistance to Prednisolone in Acute Lymphoblastic Leukemia Based on Weighted Gene Co-expression Network Analysis. (PMID:36877306)
• Analysis of Enrichment Pathway, Hub Gene, and Protein-Protein Interaction Network in Rheumatoid Arthritis and Construction of Molecular Subtypes in Peripheral Blood. (PMID:37773661)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	elavl2	ENSDARG00000040732
mus_musculus	Elavl2	ENSMUSG00000008489
rattus_norvegicus	Elavl2	ENSRNOG00000006853
drosophila_melanogaster	Rbp9	FBGN0010263
drosophila_melanogaster	fne	FBGN0086675

Paralogs (24): ELAVL1 (ENSG00000066044), PABPC1 (ENSG00000070756), RBMS2 (ENSG00000076067), PABPC4 (ENSG00000090621), PABPC1L (ENSG00000101104), RBM24 (ENSG00000112183), TARDBP (ENSG00000120948), HNRNPR (ENSG00000125944), RBM38 (ENSG00000132819), SYNCRIP (ENSG00000135316), SF3B4 (ENSG00000143368), RBMS3 (ENSG00000144642), PABPC3 (ENSG00000151846), RBMS1 (ENSG00000153250), RBM45 (ENSG00000155636), ELAVL4 (ENSG00000162374), PABPC5 (ENSG00000174740), PUF60 (ENSG00000179950), PABPC1L2B (ENSG00000184388), PABPC1L2A (ENSG00000186288), RBM34 (ENSG00000188739), ELAVL3 (ENSG00000196361), RBM14 (ENSG00000239306), PABPC4L (ENSG00000254535)

Protein

Protein identifiers

ELAV-like protein 2 — Q12926 (reviewed: Q12926)

Alternative names: ELAV-like neuronal protein 1, Hu-antigen B, Nervous system-specific RNA-binding protein Hel-N1

All UniProt accessions (4): Q12926, A0A0A0MRX1, B1AM48, C9JB16

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein that binds to the 3’ untranslated region (3’UTR) of target mRNAs. Seems to recognize a GAAA motif. Can bind to its own 3’UTR, the FOS 3’UTR and the ID 3’UTR.

Subunit / interactions. Interacts with IGF2BP1. Interacts with MAP1B light chain LC1.

Tissue specificity. Brain; neural-specific.

Similarity. Belongs to the RRM elav family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q12926-1	1	yes
Q12926-2	2

RefSeq proteins (41): NP_001164666, NP_001164668, NP_001338384, NP_001338385, NP_001338386, NP_001338387, NP_001338388, NP_001338389, NP_001338390, NP_001338391, NP_001338392, NP_001338393, NP_001338394, NP_001338395, NP_001338396, NP_001338397, NP_001338398, NP_001338399, NP_001338400, NP_001338401, NP_001338402, NP_001338403, NP_001338404, NP_001338405, NP_001338406, NP_001338407, NP_001372622, NP_001372623, NP_001372624, NP_001372625, NP_001372626, NP_001372627, NP_001372628, NP_001372629, NP_001372630, NP_001372631, NP_001372632, NP_001372633, NP_001372634, NP_001372636, NP_004423* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR002343	Hud_Sxl_RNA	Family
IPR006548	ELAD_HU_SF	Family
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034914	HuB_RRM3	Domain
IPR034999	HuB_RRM2	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (8 total): domain 3, chain 1, region of interest 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12926-F1	75.93	0.48

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): 221

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 367 (showing top): AHRARNT_01, AP1_01, YAATNRNNNYNATT_UNKNOWN, MORF_FLT1, BENPORATH_ES_WITH_H3K27ME3, MORF_MSH3, NKX25_02, GCANCTGNY_MYOD_Q6, MORF_BRCA1, RACCACAR_AML_Q6, MORF_ESR1, MODULE_16, FOXO1_01, GGGTGGRR_PAX4_03, GTACAGG_MIR486

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), negative regulation of mRNA processing (GO:0050686)

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 (2): ribonucleoprotein complex (GO:1990904), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
mRNA processing	1
regulation of mRNA processing	1
negative regulation of mRNA metabolic process	1
nucleic acid binding	1
mRNA binding	1
protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELAVL2	HNRNPK	P61978	726
ELAVL2	NOVA1	P51513	612
ELAVL2	HNRNPC	P07910	587
ELAVL2	DHX36	Q9H2U1	566
ELAVL2	PCBP1	Q15365	545
ELAVL2	FAM98A	Q8NCA5	534
ELAVL2	IGF2BP3	O00425	514
ELAVL2	PRPF3	O43395	514
ELAVL2	HNRNPUL2	Q1KMD3	509
ELAVL2	SRSF1	Q07955	506
ELAVL2	KHSRP	Q92945	485
ELAVL2	RBFOX1	Q9NWB1	479
ELAVL2	TRA2B	P62995	476
ELAVL2	EIF4E	P06730	475
ELAVL2	AGO2	Q9UKV8	468

IntAct

96 interactions, top by confidence:

A	B	Type	Score
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
GSPT2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
THAP3	CASC3	psi-mi:“MI:0914”(association)	0.530
ZAR1L	BCL2L11	psi-mi:“MI:0914”(association)	0.530
ELAVL2	CASC3	psi-mi:“MI:0914”(association)	0.530
LIN28B	ELAVL2	psi-mi:“MI:0914”(association)	0.530
DYRK1A	ELAVL2	psi-mi:“MI:0915”(physical association)	0.500
DYRK1A	IGF2BP3	psi-mi:“MI:0914”(association)	0.500
ELAVL2	NR2E3	psi-mi:“MI:0915”(physical association)	0.370
ELAVL2	RBFOX2	psi-mi:“MI:0915”(physical association)	0.370
ELAVL2	HNRNPAB	psi-mi:“MI:0915”(physical association)	0.370
ELAVL2	HOXC9	psi-mi:“MI:0915”(physical association)	0.370
NP	HNRNPAB	psi-mi:“MI:0914”(association)	0.350
NBEAL2	HAX1	psi-mi:“MI:0914”(association)	0.350
HIF1AN	ARID1A	psi-mi:“MI:0914”(association)	0.350
OASL	LARP1	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
CPEB1		psi-mi:“MI:0914”(association)	0.350
LIN28A	MEX3A	psi-mi:“MI:0914”(association)	0.350

BioGRID (280): ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL2 (Affinity Capture-MS), ELAVL3 (Affinity Capture-MS), RBMXL1 (Affinity Capture-MS), POLR3H (Affinity Capture-MS), RBM45 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IEW8, A4QNI8, B5DF91, O01671, O09032, O17310, O61374, O64380, O95758, O97018, P16914, P19339, P26378, P26599, P42731, P70372, P86049, Q12926, Q14576, Q15717, Q1JQ73, Q24668, Q28FX0, Q28GD4, Q29099, Q5R9H4, Q5R9Z6, Q5U259, Q5YD48, Q60899, Q60900, Q61701, Q6DEY7, Q6GLB5, Q6GR16, Q6YZW2, Q7SZT7, Q8CH84, Q8GZ26, Q8LFS6

Diamond homologs: A0A0R4IEW8, A4QNI8, A8NS61, A8WLV5, B3M3R5, B3NGA1, B4HUE4, B4IX08, B4KX02, B4LFQ9, B4MM23, B4PIS2, B4QRJ0, B5DF91, B8BCZ8, O01671, O04425, O09032, O17310, O61374, O75821, O89086, O97018, P16914, P19339, P19683, P23241, P26378, P28644, P29558, P49310, P60824, P60825, P60826, P70372, P98179, Q04836, Q12926, Q14011, Q14498

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ELAVL2	“up-regulates quantity”	ADAM10	“post transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 120 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.

GO biological processes:

GO term	Partners	Fold	FDR
mRNA transport	6	14.9×	2e-03
negative regulation of translation	6	11.1×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2022 predictions. Top by Δscore:

Variant	Effect	Δscore
9:23693334:A:C	acceptor_gain	1.0000
9:23704914:TTACC:T	donor_loss	1.0000
9:23704915:TAC:T	donor_loss	1.0000
9:23704916:A:AC	donor_gain	1.0000
9:23704916:AC:A	donor_gain	1.0000
9:23704916:ACC:A	donor_loss	1.0000
9:23704917:C:CT	donor_gain	1.0000
9:23704917:CC:C	donor_gain	1.0000
9:23704917:CCA:C	donor_gain	1.0000
9:23705067:GAAAC:G	acceptor_gain	1.0000
9:23705069:AAC:A	acceptor_gain	1.0000
9:23705070:AC:A	acceptor_gain	1.0000
9:23705071:CC:C	acceptor_gain	1.0000
9:23705071:CCT:C	acceptor_loss	1.0000
9:23705072:C:CC	acceptor_gain	1.0000
9:23731018:ATACT:A	donor_loss	1.0000
9:23731019:TA:T	donor_loss	1.0000
9:23731020:A:AC	donor_gain	1.0000
9:23731020:ACT:A	donor_loss	1.0000
9:23731021:C:CC	donor_gain	1.0000
9:23731021:CT:C	donor_gain	1.0000
9:23731021:CTTTT:C	donor_gain	1.0000
9:23731121:CTGCC:C	acceptor_gain	1.0000
9:23731124:CC:C	acceptor_gain	1.0000
9:23731125:CC:C	acceptor_gain	1.0000
9:23731126:C:A	acceptor_loss	1.0000
9:23731126:C:CC	acceptor_gain	1.0000
9:23731127:T:A	acceptor_loss	1.0000
9:23731129:A:AC	acceptor_gain	1.0000
9:23731129:A:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000049800 (9:23700012 AT>A,ATT), RS1000060893 (9:23757146 G>A,T), RS1000063684 (9:23837866 G>C), RS1000076823 (9:23704584 T>A), RS1000095254 (9:23789312 G>A), RS1000101307 (9:23740514 A>C,G), RS1000112276 (9:23819754 G>C), RS1000113328 (9:23820850 G>A,T), RS1000134229 (9:23775148 C>T), RS1000154776 (9:23729873 G>C), RS1000155491 (9:23833770 A>C), RS1000156562 (9:23695947 G>C), RS1000160255 (9:23797785 G>A), RS1000161468 (9:23708161 T>A), RS1000180558 (9:23738587 A>T)

Disease associations

OMIM: gene MIM:601673 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

35 associations (top):

Study	Trait	p-value
GCST001629_3	Response to platinum-based chemotherapy in non-small-cell lung cancer	7.000000e-06
GCST003447_7	Neuroticism	3.000000e-08
GCST003770_73	Neuroticism	3.000000e-08
GCST004092_4	Plasma t-tau levels	8.000000e-06
GCST004557_134	Body mass index	3.000000e-07
GCST004558_40	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-08
GCST004560_25	Body mass index in physically inactive individuals	1.000000e-07
GCST005232_146	Neuroticism	4.000000e-07
GCST005316_53	Intelligence (MTAG)	4.000000e-09
GCST005835_4	Remission after SSRI treatment in MDD or neuroticism	1.000000e-08
GCST006269_382	General cognitive ability	1.000000e-10
GCST006269_789	General cognitive ability	3.000000e-09
GCST006269_918	General cognitive ability	2.000000e-08
GCST006482_3	Lung function (FEV1/FVC)	3.000000e-09
GCST006496_4	Glomerular filtration rate change in heart transplantation	2.000000e-06
GCST006940_130	Neurociticism	8.000000e-12
GCST006940_14	Neurociticism	9.000000e-13
GCST006945_18	Feeling guilty	4.000000e-11
GCST007387_6	Insomnia symptoms (never/rarely vs. sometimes/usually)	7.000000e-09
GCST007388_45	Insomnia symptoms (never/rarely vs. usually)	2.000000e-07
GCST007433_5	Fulminant type 1 diabetes	5.000000e-06
GCST007692_62	Chronic obstructive pulmonary disease	4.000000e-12
GCST007797_48	Asthma onset (childhood vs adult)	3.000000e-07
GCST007798_92	Asthma	8.000000e-08
GCST007800_57	Asthma (childhood onset)	3.000000e-16
GCST010059_3	Physiological traits	6.000000e-06
GCST010059_8	Physiological traits	6.000000e-06
GCST011768_15	Schizophrenia	2.000000e-09
GCST011769_18	Schizophrenia	5.000000e-09
GCST012112_1	Attending social / leisure activities	6.000000e-06

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0004760	t-tau measurement
EFO:0004340	body mass index
EFO:0008002	physical activity measurement
EFO:0004337	intelligence
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004713	FEV/FVC ratio
EFO:0006829	GFR change measurement
EFO:0007043	response to transplant
EFO:0009595	guilt measurement
EFO:0007876	insomnia measurement
EFO:0004847	age at onset
EFO:0004338	body weight
EFO:0005937	longitudinal BMI measurement
EFO:0009592	social interaction measurement
EFO:0009863	anxiety measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects splicing, increases abundance, affects cotreatment	3
Valproic Acid	affects expression, decreases expression, decreases methylation, increases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
bisphenol A	increases methylation, affects cotreatment	1
geraniol	decreases expression	1
trichostatin A	decreases expression	1
arsenite	increases methylation	1
benzo(e)pyrene	increases methylation	1
hydroquinone	decreases expression, increases reaction, decreases degradation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
chromium hexavalent ion	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
abrine	increases expression	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects splicing, increases abundance, affects cotreatment	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Copper	affects binding, decreases expression	1
Lead	affects splicing	1
Methapyrilene	increases methylation	1
Oxygen	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thiram	increases expression	1

Clinical trials (associated diseases)

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