EIF5

Summary

EIF5 (eukaryotic translation initiation factor 5, HGNC:3299) is a protein-coding gene on chromosome 14q32.32, encoding Eukaryotic translation initiation factor 5 (P55010). Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5’-untranslated region, and locates the initiation codon. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).

Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).

Source: NCBI Gene 1983 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 60 total
• Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_001969

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3299
Approved symbol	EIF5
Name	eukaryotic translation initiation factor 5
Location	14q32.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000100664
Ensembl biotype	protein_coding
OMIM	601710
Entrez	1983

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 10 protein_coding, 8 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000216554, ENST00000392715, ENST00000558265, ENST00000558316, ENST00000558506, ENST00000558551, ENST00000558800, ENST00000559011, ENST00000559130, ENST00000559249, ENST00000559532, ENST00000559923, ENST00000560200, ENST00000560338, ENST00000560763, ENST00000560877, ENST00000561023, ENST00000561325, ENST00000561380, ENST00000561406, ENST00000561439

RefSeq mRNA: 2 — MANE Select: NM_001969 NM_001969, NM_183004

CCDS: CCDS9980

Canonical transcript exons

ENST00000216554 — 12 exons

Exon	Start	End
ENSE00000660593	103339639	103339803
ENSE00000870560	103339172	103339333
ENSE00001026216	103340963	103345025
ENSE00001026223	103334389	103334597
ENSE00002541418	103334237	103334260
ENSE00003466178	103338735	103338893
ENSE00003552868	103335653	103335932
ENSE00003594164	103340427	103340561
ENSE00003662028	103338327	103338472
ENSE00003786576	103336677	103336849
ENSE00003788183	103337116	103337227
ENSE00003789827	103336036	103336117

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 93.8910 / max 1323.8581, expressed in 1826 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141728	86.8414	1826
141733	1.9269	975
141734	1.6756	861
141731	1.1233	482
141729	0.8235	531
141730	0.7940	461
207382	0.4913	202
141732	0.2150	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
postcentral gyrus	UBERON:0002581	99.35	gold quality
pons	UBERON:0000988	99.25	gold quality
parietal lobe	UBERON:0001872	99.22	gold quality
adult organism	UBERON:0007023	99.20	gold quality
sperm	CL:0000019	99.14	gold quality
male germ cell	CL:0000015	99.10	gold quality
lateral globus pallidus	UBERON:0002476	99.09	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.05	gold quality
substantia nigra pars compacta	UBERON:0001965	98.92	gold quality
superior frontal gyrus	UBERON:0002661	98.92	gold quality
inferior olivary complex	UBERON:0002127	98.91	gold quality
oocyte	CL:0000023	98.90	gold quality
superior vestibular nucleus	UBERON:0007227	98.90	gold quality
superficial temporal artery	UBERON:0001614	98.88	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.88	gold quality
medulla oblongata	UBERON:0001896	98.87	gold quality
cardia of stomach	UBERON:0001162	98.82	gold quality
mammary duct	UBERON:0001765	98.78	gold quality
body of tongue	UBERON:0011876	98.78	gold quality
pylorus	UBERON:0001166	98.76	gold quality
heart right ventricle	UBERON:0002080	98.73	gold quality
jejunal mucosa	UBERON:0000399	98.72	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.67	gold quality
pharyngeal mucosa	UBERON:0000355	98.66	gold quality
epithelium of mammary gland	UBERON:0003244	98.66	gold quality
nipple	UBERON:0002030	98.65	gold quality
inferior vagus X ganglion	UBERON:0005363	98.65	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.62	gold quality
subthalamic nucleus	UBERON:0001906	98.60	gold quality
entorhinal cortex	UBERON:0002728	98.60	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	968.17
E-MTAB-8559	yes	790.08
E-MTAB-7249	no	16805.62
E-MTAB-10485	no	1300.09
E-HCAD-5	no	1049.40
E-MTAB-8894	no	990.00
E-GEOD-124858	no	674.12
E-MTAB-5061	no	3.33
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

223 targeting EIF5, 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-4283	100.00	66.42	2097
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5193	100.00	67.26	1744
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-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 13)

• CK2 may be involved in the regulation of cell cycle progression by associating with and phosphorylating a key molecule for translation initiation. (PMID:16227438)
• 3-dimensional solution structure of N-terminal domain of human eIF5, has 2 subdomains, both reminiscent of nucleic-acid-binding modules. N-terminal subdomain contains “arginine finger” motif essential for GAP function. (PMID:16584190)
• The carboxy-terminal domain (CTD)of eIF5 is exclusively composed out of alpha-helices and is homologous to the carboxy-terminal domain of eIF2B-epsilon (eIF2Bepsilon-CTD). The binding sites of eIF2-beta, eIF3 and eIF1 were mapped onto the structure. (PMID:16781736)
• miR-5787 represses cell growth, in part, by targeting eIF5. (PMID:22062548)
• This study provides mechanistic insight into the role of eIF5-carboxyl terminal domain’s dynamic interplay with eIF1 and eIF2beta. (PMID:22813744)
• Coordinated movements of eukaryotic translation initiation factors eIF1, eIF1A, and eIF5 trigger phosphate release from eIF2 in response to start codon recognition by the ribosomal preinitiation complex (PMID:23293029)
• The N-terminal tail of eIF1A mediates the interaction with eIF5 and eIF1. (PMID:24319994)
• it is eIF5-induced GTP hydrolysis and Pi release that irreversibly trap the 48S complex, and this complex is further stabilized by eIF5B and 60S joining. (PMID:26717981)
• overexpression of eIF5 and 5MP induces translation of ATF4 (PMID:27325740)
• Translational initiation pathway inhibition could be of clinical utility in male breast cancer patients overexpressing eIF4E and eIF5. With mTOR inhibitors that target this pathway now in the clinic, these biomarkers may represent new targets for therapeutic intervention, although further independent validation is required (PMID:27986751)
• The down-regulation of the GCN4 expression (Gcn(-) phenotype) in the eIF5(G31R) mutant was not because of leaky scanning defects; rather was due to the utilization of upUUG initiation codons at the 5’ regulatory region present between uORF1 and the main GCN4 ORF. (PMID:28385532)
• Data show that eIF5-mimic protein (5MP) represses non-AUG translation by competing with translation initiation factor 5 (eIF5) for the Met-tRNAi-binding factor eIF2. (PMID:28981728)
• Roles of HDAC2, eIF5, and eIF6 in Lung Cancer Tumorigenesis. (PMID:34403101)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif5	ENSDARG00000003681
mus_musculus	Eif5	ENSMUSG00000021282
rattus_norvegicus	Eif5	ENSRNOG00000010218
rattus_norvegicus	Eif5-ps1	ENSRNOG00000065729
drosophila_melanogaster	eIF5	FBGN0030719
caenorhabditis_elegans		WBGENE00016496

Protein

Protein identifiers

Eukaryotic translation initiation factor 5 — P55010 (reviewed: P55010)

All UniProt accessions (7): P55010, H0YK11, H0YK29, H0YLZ1, H0YM54, H0YMJ8, H0YN40

UniProt curated annotations — full annotation on UniProt →

Function. Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5’-untranslated region, and locates the initiation codon. In this complex, acts as a GTPase-activating protein, by promoting GTP hydrolysis by eIF2G (EIF2S3). During scanning, interacts with both EIF1 (via its C-terminal domain (CTD)) and EIF1A (via its NTD). This interaction with EIF1A contributes to the maintenance of EIF1 within the open 43S PIC. When start codon is recognized, EIF5, via its NTD, induces eIF2G (EIF2S3) to hydrolyze the GTP. Start codon recognition also induces a conformational change of the PIC to a closed state. This change increases the affinity of EIF5-CTD for EIF2-beta (EIF2S2), which allows the release, by an indirect mechanism, of EIF1 from the PIC. Finally, EIF5 stabilizes the PIC in its closed conformation.

Subunit / interactions. Component of the 43S pre-initiation complex (43S PIC), which is composed of the 40S ribosomal subunit, EIF1, eIF1A (EIF1AX), eIF3 complex, EIF5 and eIF2-GTP-initiator tRNA complex (eIF2 ternary complex). Interacts with eIF1A (EIF1AX) during scanning. Interacts through its C-terminal domain (CTD) with EIF1 or with eIF2-beta (EIF2S2) (mutually exclusive) through a common binding site. Interacts through its C-terminal domain (CTD) with the CTD of EIF5B. Interacts with FMR1 isoform 6; this interaction occurs in a RNA-dependent manner.

Subcellular location. Cytoplasm.

Similarity. Belongs to the eIF-2-beta/eIF-5 family.

RefSeq proteins (2): NP_001960, NP_892116 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002735	Transl_init_fac_IF2/IF5_dom	Domain
IPR003307	W2_domain	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR016189	Transl_init_fac_IF2/IF5_N	Homologous_superfamily
IPR016190	Transl_init_fac_IF2/IF5_Zn-bd	Homologous_superfamily
IPR045196	IF2/IF5	Family

Pfam: PF01873, PF02020

UniProt features (60 total): helix 18, strand 14, modified residue 7, sequence conflict 4, mutagenesis site 3, compositionally biased region 3, turn 3, cross-link 2, chain 1, domain 1, sequence variant 1, region of interest 1, binding site 1, site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
2IU1	X-RAY DIFFRACTION	1.8
8PJ2	ELECTRON MICROSCOPY	3.4
8OZ0	ELECTRON MICROSCOPY	3.5
8PJ3	ELECTRON MICROSCOPY	3.7
2E9H	SOLUTION NMR
2G2K	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55010-F1	73.90	0.32

Functional residue map

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

Catalytic / active sites (1): 15 (arginine finger)

Ligand- & substrate-binding residues (1): 27–34

Post-translational modifications (9): 229, 389, 390, 410, 419, 413, 418, 10, 227

Mutagenesis-validated functional residues (3):

Position	Phenotype
15	loss of ability to promote hydrolysis of gtp.
305–306	disruption of binding to eif1 and eif2-beta (eif2s2); when associated with 347-k-k-348.
347–348	disruption of binding to eif1 and eif2-beta (eif2s2); when associated with 305-d-d-306.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-72702	Ribosomal scanning and start codon recognition
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit

MSigDB gene sets: 314 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, FXR_IR1_Q6, GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MORF_RAB5A, BROWNE_HCMV_INFECTION_8HR_UP, CROONQUIST_NRAS_SIGNALING_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, AREB6_01, GOBP_TRANSLATIONAL_INITIATION, GOBP_RIBOSOME_ASSEMBLY, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, NAGASHIMA_NRG1_SIGNALING_UP, AAAYRNCTG_UNKNOWN, MORF_PSMC2

GO Biological Process (5): formation of cytoplasmic translation initiation complex (GO:0001732), regulation of translational initiation (GO:0006446), ribosome assembly (GO:0042255), translation (GO:0006412), translational initiation (GO:0006413)

GO Molecular Function (9): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), GDP-dissociation inhibitor activity (GO:0005092), GTPase activator activity (GO:0005096), GTP binding (GO:0005525), cadherin binding (GO:0045296), eukaryotic initiation factor eIF2 binding (GO:0071074), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cap-dependent Translation Initiation	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational initiation	3
GTPase regulator activity	2
cellular anatomical structure	2
cytoplasmic translational initiation	1
protein-RNA complex assembly	1
regulation of translation	1
ribosome biogenesis	1
membraneless organelle assembly	1
peptidyltransferase activity	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
formation of translation initiation ternary complex	1
translation	1
metabolic process	1
nucleic acid binding	1
translation factor activity	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cell adhesion molecule binding	1
translation initiation factor binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
cell junction	1

Protein interactions and networks

STRING

2435 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF5	EIF1	P41567	999
EIF5	EIF5B	O60841	984
EIF5	EIF4B	P23588	984
EIF5	EIF4A1	P04765	978
EIF5	EIF4G1	Q04637	973
EIF5	EIF4A2	Q14240	970
EIF5	EIF4E	P06730	966
EIF5	EIF3D	O15371	930
EIF5	EIF3J	O75822	930
EIF5	EIF3G	O75821	924
EIF5	EIF2S3	P41091	914
EIF5	RABIF	P47224	884
EIF5	ABCE1	P61221	882
EIF5	EIF2S2	P20042	876
EIF5	EIF2S1	P05198	860

IntAct

65 interactions, top by confidence:

A	B	Type	Score
DUSP12	EIF5	psi-mi:“MI:0915”(physical association)	0.720
EIF5	DUSP12	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
DDX3X	EIF2S1	psi-mi:“MI:0403”(colocalization)	0.640
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
HTT	EIF5	psi-mi:“MI:0915”(physical association)	0.560
EIF1AX	EIF5	psi-mi:“MI:0915”(physical association)	0.510
EIF5	EIF1AX	psi-mi:“MI:0915”(physical association)	0.510
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
	EIF5	psi-mi:“MI:0407”(direct interaction)	0.440
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
NRGN	EIF5	psi-mi:“MI:0915”(physical association)	0.370
PUM1	EIF5	psi-mi:“MI:0915”(physical association)	0.370
EIF5	HSPB1	psi-mi:“MI:0915”(physical association)	0.370
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
CLPB	GTPBP10	psi-mi:“MI:0914”(association)	0.350
SLC30A4	SPAG9	psi-mi:“MI:0914”(association)	0.350
	ZFC3H1	psi-mi:“MI:0914”(association)	0.350
FYN	PRPSAP2	psi-mi:“MI:0914”(association)	0.350
ZDHHC5	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350

BioGRID (262): EIF5 (Affinity Capture-MS), DUSP12 (Two-hybrid), RPS6 (Co-fractionation), EIF5 (Affinity Capture-MS), EIF5 (Two-hybrid), BZW2 (Co-fractionation), CHD4 (Co-fractionation), CHD5 (Co-fractionation), EIF1 (Co-fractionation), EIF2S1 (Co-fractionation), EIF2S2 (Co-fractionation), EIF3B (Co-fractionation), EIF3I (Co-fractionation), EIF5 (Co-fractionation), EIF5 (Co-fractionation)

ESM2 similar proteins: A1C8E3, A1DAY1, A2QHG9, A3GHD3, A3LSY0, A4QVI3, A5DGN9, A5DGV3, A5E3R9, A6SIZ0, A6ZPY2, A7TES6, G0S215, O42929, O43583, P0CR50, P0CR51, P0CR80, P0CR81, P38431, P47089, P55010, P55876, P59325, P93447, Q07205, Q09464, Q09689, Q1E556, Q2H5Z7, Q2HJ47, Q2TVZ2, Q40682, Q4WBL6, Q5R4L0, Q5RFP5, Q5ZJ39, Q6BH22, Q6CA08, Q6CJ30

Diamond homologs: A0B5K5, A1RUG4, A1RX59, A2SSW2, A3CXJ3, A3DNI8, A3MUE4, A4FZP0, A4WI40, A4YEI1, A5UKI8, A6URT3, A6UX55, A6VIT7, A7I5J0, A9A7T1, B0R583, B1YCG8, C3MK63, C3MU32, C3N120, C3N8N2, C3NMA3, C4KK87, C5A2A8, O24473, O27797, O27958, O58312, P09064, P20042, P41035, P41375, P55010, P55871, P59325, Q07205, Q2NHD9, Q3INQ4, Q41969

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
CSNK2A1	up-regulates	EIF5	phosphorylation
CSNK2A1	“up-regulates activity”	EIF5	phosphorylation
CSNK2B	“up-regulates activity”	EIF5	phosphorylation
EIF5	“up-regulates activity”	EIF5B	relocalization
EIF3_complex	“up-regulates activity”	EIF5	stabilization
EIF5	“form complex”	43S_pre_initiation_complex	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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
Apoptosis	5	16.5×	6e-03
Programmed Cell Death	5	14.3×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
translational initiation	5	27.6×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1290 predictions. Top by Δscore:

Variant	Effect	Δscore
14:103335652:GAGCT:G	acceptor_gain	1.0000
14:103335929:CAAGG:C	donor_loss	1.0000
14:103335930:AAGG:A	donor_loss	1.0000
14:103335931:AGG:A	donor_loss	1.0000
14:103335933:G:GA	donor_loss	1.0000
14:103336031:TTTA:T	acceptor_loss	1.0000
14:103336032:TTAG:T	acceptor_loss	1.0000
14:103336034:A:AG	acceptor_gain	1.0000
14:103336035:G:GC	acceptor_loss	1.0000
14:103336035:G:GG	acceptor_gain	1.0000
14:103336035:GGTT:G	acceptor_gain	1.0000
14:103336113:AACGT:A	donor_gain	1.0000
14:103336114:ACGT:A	donor_gain	1.0000
14:103336116:GT:G	donor_gain	1.0000
14:103336118:G:GG	donor_gain	1.0000
14:103336118:G:T	donor_loss	1.0000
14:103336119:T:A	donor_loss	1.0000
14:103336122:G:GG	donor_gain	1.0000
14:103336667:A:AG	acceptor_gain	1.0000
14:103336672:A:G	acceptor_gain	1.0000
14:103336673:ATAG:A	acceptor_loss	1.0000
14:103336674:TAG:T	acceptor_loss	1.0000
14:103336675:A:AG	acceptor_gain	1.0000
14:103336676:G:GA	acceptor_gain	1.0000
14:103336845:ATTTG:A	donor_gain	1.0000
14:103336846:TTTG:T	donor_gain	1.0000
14:103336847:TTGGT:T	donor_loss	1.0000
14:103336850:G:A	donor_loss	1.0000
14:103336850:G:GG	donor_gain	1.0000
14:103336851:T:G	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000015216 (14:103344767 C>T), RS1000094663 (14:103339807 G>A,T), RS1000211664 (14:103344101 C>A,G), RS1000610667 (14:103341747 T>C), RS1000680221 (14:103340806 T>C), RS1000854467 (14:103334479 G>C,T), RS1000885456 (14:103334333 G>A,C), RS1000907240 (14:103333797 C>G,T), RS1001182441 (14:103337266 A>G), RS1001280375 (14:103339620 C>G,T), RS1001328768 (14:103333943 G>A,T), RS1001755235 (14:103343861 C>G,T), RS1001930111 (14:103333115 G>T), RS1002102885 (14:103343733 C>G), RS1002202941 (14:103338109 C>G,T)

Disease associations

OMIM: gene MIM:601710 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001765_15	Red blood cell traits	8.000000e-11
GCST004521_262	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST005951_8	Body mass index	7.000000e-09
GCST005951_9	Body mass index	4.000000e-09
GCST005977_13	Monocyte count	4.000000e-12
GCST007326_40	Number of sexual partners	8.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004340	body mass index
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression, affects cotreatment	4
Valproic Acid	affects expression, decreases expression	4
sodium arsenite	decreases expression, increases activity, increases expression	3
Benzo(a)pyrene	increases methylation, decreases expression, increases expression	3
Formaldehyde	decreases expression, increases expression	3
Cyclosporine	increases expression	3
Particulate Matter	increases abundance, increases expression	3
bisphenol A	affects expression, increases expression	2
Arsenic Trioxide	increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Vehicle Emissions	increases abundance, increases expression	2
Silicon Dioxide	affects expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Zinc	affects cotreatment, increases expression, affects expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
biochanin A	decreases expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
lead acetate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, affects cotreatment, decreases expression	1
trichostatin A	decreases expression	1
methylparaben	increases expression	1
afimoxifene	decreases expression	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	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_D4AB	USZ20-ESOS1	Cancer cell line	Male

Clinical trials (associated diseases)

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