EIF5A2

Summary

EIF5A2 (eukaryotic translation initiation factor 5A2, HGNC:3301) is a protein-coding gene on chromosome 3q26.2, encoding Eukaryotic translation initiation factor 5A-2 (Q9GZV4). Translation factor that promotes translation elongation and termination, particularly upon ribosome stalling at specific amino acid sequence contexts.

Predicted to enable translation elongation factor activity. Predicted to be involved in translational elongation. Located in intracellular membrane-bounded organelle.

Source: NCBI Gene 56648 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_020390

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3301
Approved symbol	EIF5A2
Name	eukaryotic translation initiation factor 5A2
Location	3q26.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163577
Ensembl biotype	protein_coding
OMIM	605782
Entrez	56648

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000295822, ENST00000460117, ENST00000474096, ENST00000474417, ENST00000487522, ENST00000931515

RefSeq mRNA: 1 — MANE Select: NM_020390 NM_020390

CCDS: CCDS3214

Canonical transcript exons

ENST00000295822 — 5 exons

Exon	Start	End
ENSE00001076173	170906989	170907093
ENSE00001156123	170907642	170907841
ENSE00001313855	170888418	170893419
ENSE00001954703	170908543	170908637
ENSE00003789148	170894292	170894423

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 93.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1458 / max 81.2498, expressed in 1713 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45571	4.3110	1496
45572	3.8348	1554

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	93.60	gold quality
left testis	UBERON:0004533	92.70	gold quality
right testis	UBERON:0004534	92.65	gold quality
testis	UBERON:0000473	88.55	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.70	gold quality
lateral nuclear group of thalamus	UBERON:0002736	85.35	gold quality
buccal mucosa cell	CL:0002336	84.11	gold quality
primary visual cortex	UBERON:0002436	83.32	gold quality
stromal cell of endometrium	CL:0002255	82.41	gold quality
islet of Langerhans	UBERON:0000006	82.15	gold quality
pons	UBERON:0000988	81.45	gold quality
prefrontal cortex	UBERON:0000451	80.04	gold quality
middle temporal gyrus	UBERON:0002771	79.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.05	gold quality
right coronary artery	UBERON:0001625	79.05	gold quality
occipital lobe	UBERON:0002021	78.81	gold quality
calcaneal tendon	UBERON:0003701	77.63	gold quality
ventricular zone	UBERON:0003053	77.15	gold quality
thoracic aorta	UBERON:0001515	76.39	gold quality
popliteal artery	UBERON:0002250	76.39	gold quality
tibial artery	UBERON:0007610	76.37	gold quality
ascending aorta	UBERON:0001496	76.32	gold quality
aorta	UBERON:0000947	76.26	gold quality
descending thoracic aorta	UBERON:0002345	76.10	gold quality
postcentral gyrus	UBERON:0002581	75.42	gold quality
superior frontal gyrus	UBERON:0002661	75.13	gold quality
dorsal root ganglion	UBERON:0000044	75.11	gold quality
frontal cortex	UBERON:0001870	75.04	gold quality
cortical plate	UBERON:0005343	75.04	gold quality
neocortex	UBERON:0001950	74.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

342 targeting EIF5A2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
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-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-656-3P	100.00	72.15	2788
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-190A-3P	100.00	80.35	5520
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713

Literature-anchored findings (GeneRIF, showing 40)

• Eukaryotic initiation factor 5A (eIF5A) (eIF-4D, eIF-5A) stimulates ribosomal peptidyltransferase activity, transport of HIV-1-mRNAs and binds exportins 1 and 4. Contains hypusine at lys 50. Human EIF5A1 and EIF5A2 encode two isoforms: eIF5AI and eIF5AII. (PMID:11161802)
• role in eukaryotic cell survival similar to that of the ubiquitous eIF5A-1 (PMID:14622290)
• eIF-5A2 overexpression was significantly associated with the advanced stage of ovarian cancer. (PMID:15205331)
• Mutations in the human EIF5A2 gene are not common causes of infertility in man (PMID:16169419)
• In clinical samples, the expression of PTMA was significantly higher in the minor effect group than in the major effect group (P = 0.004), but there were no significant differences in EIF5a2 expression between the two groups. (PMID:17876542)
• These findings suggest that overexpression of EIF-5A2 in colorectal carcinomas may be important in the acquisition of a metastatic phenotype and plays an important role in colorectal carcinoma development and progression. (PMID:17949776)
• Increased expression of EIF-5A2 in ovarian carcinoma may represent an acquired malignant phenotypic feature of tumor cells. Overexpression of EIF-5A2 is an independent molecular marker for shortened survival time of patients with ovarian carcinoma. (PMID:19054548)
• Overexpression of EIF-5A2 is an independent predictor of outcome in patients of urothelial carcinoma of the bladder treated with radical cystectomy. (PMID:19155439)
• protein expression of eIF-5A2 might be regulated not only by gene amplification, but also by other molecular mechanisms (PMID:19298601)
• EIF5A2 plays an important role in hepatocellular carcinoma invasion and metastasis by inducing epithelial-mesenchymal transition, as well as stimulating cytoskeleton rearrangement through activation of RhoA and Rac1. (PMID:20112425)
• EIF5A2 promotes colorectal carcinoma cell aggressiveness by upregulating MTA1 through C-myc to induce epithelial-mesenchymaltransition. (PMID:21813470)
• eIF-5A as well as the hypusine-forming enzymes deoxyhypusine synthase (DHS) and deoxyhypusine hydroxylase (DOHH) are highly overexpressed in glioblastoma patient sample (PMID:22927971)
• None of the latter died within 5 years in EIF5A2-negative staining group. (PMID:24178756)
• focus on updating current knowledge of the EIF5A2 gene in human cancers (PMID:24250246)
• It significantly inhibited activity of eIF5A2. (PMID:24262005)
• EIF5A2 elevated TGF-beta1 expression through STAT3 to induce epithelial-mesenchymal transition and promotes aggressiveness in bladder cancer. (PMID:24504366)
• Increased expression of eIF5A2 increases metastasis and angiogenesis in esophageal squamous cell carcinoma via the HIF1alpha-mediated signaling pathway. (PMID:24561231)
• eIF-5A2 plays an important role in doxorubicin chemoresistance in breast cancer cells. (PMID:24638963)
• Our findings indicate that EIF5A2 upregulation plays an important oncogenic role in gastric cancer. EIF5A2 may represent a new predictor for poor survival and is a potential therapeutic target for gastric cancer. (PMID:25793713)
• MiR-30b suppresses tumor migration and invasion by targeting EIF5A2 expression in gastric cancer cells. (PMID:26309359)
• Data suggest that eukaryotic translation initiation factor 5A2 (EIF5A2) inhibitors might be considered as combination therapy to enhance chemosensitivity in patients with esophageal squamous cell carcinoma (ESCC). (PMID:26317793)
• Data indicate that regulation of sonic hedgehog (SHh)-GLI family zinc finger 1 (Gli1) signals to migration of pancreatic cancer AsPC-1 Cells through mediating eukaryotic translation initiation factor 5A (EIF5A2) gene expression. (PMID:26465952)
• EIF5A2 overexpression may contribute to cancer progression and poor prognosis. Therefore, EIF5A2 could be a novel potential prognostic marker for Federation of Gynecology and Obstetrics (FIGO) stage I-II cervical cancer. (PMID:26799253)
• Data suggest that inhibition of eIF5A2 alters progression of the EMT to decrease the invasion and metastasis of HCC cells via ROS-related pathways. (PMID:27028999)
• The model had 92% sensitivity and 92% specificity. We obtained similar results in the independent validation cohort. AIB1 and EIF5A2 show promise for the noninvasive detection of bladder cancer. The model based on AIB1, EIF5A2, and NMP22 outperformed each of the three individual biomarkers for detecting Bladder cancer. (PMID:27203388)
• EIF5A2 as a direct and functional target of miR-203. (PMID:27376958)
• High EIF5A2 expression is associated with hepatocellular carcinoma. (PMID:27879277)
• the tumor suppressive role of miR-221-3p in MB cell proliferation at least in part via targeting EIF5A2 (PMID:30551723)
• MicroRNA-383 inhibits doxorubicin resistance in hepatocellular carcinoma by targeting eukaryotic translation initiation factor 5A2. (PMID:30801960)
• In cohort of patients with upper urinary tract urothelial carcinoma EIF5A2 low expression group had significantly longer overall survival (OS) and progression-free survival (PFS) than the EIF5A2 high expression group. The high expression of EIF5A2 significantly predict poor OS and PFS in the subset patients. EIF5A2 was an independent prognostic factor for OS and PFS. (PMID:30931608)
• MicroRNA-33b regulates sensitivity to daunorubicin in acute myelocytic leukemia by regulating eukaryotic translation initiation factor 5A-2. (PMID:31222822)
• DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFbeta/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53 (PMID:31558321)
• MicroRNA-588 regulates migration capacity and invasiveness of renal cancer cells by targeting EIF5A2. (PMID:31841179)
• High EIF5A2 expression is associated with renal interstitial fibrosis. (PMID:31863776)
• Long non-coding RNA LINC00520 promotes the proliferation and metastasis of malignant melanoma by inducing the miR-125b-5p/EIF5A2 axis. (PMID:32466797)
• Knockdown of eukaryotic translation initiation factor 5A2 enhances the therapeutic efficiency of doxorubicin in hepatocellular carcinoma cells by triggering lethal autophagy. (PMID:33174013)
• Circ_0003998 enhances doxorubicin resistance in hepatocellular carcinoma by regulating miR-218-5p/EIF5A2 pathway. (PMID:33308276)
• EIF5A2 enhances stemness of epithelial ovarian cancer cells via a E2F1/KLF4 axis. (PMID:33726845)
• The deubiquitinating enzyme ATXN3 promotes the progression of anaplastic thyroid carcinoma by stabilizing EIF5A2. (PMID:34428509)
• HERC3 regulates epithelial-mesenchymal transition by directly ubiquitination degradation EIF5A2 and inhibits metastasis of colorectal cancer. (PMID:35064108)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif5a	ENSDARG00000017235
danio_rerio	eif5a2	ENSDARG00000056186
mus_musculus	Eif5a2	ENSMUSG00000050192
rattus_norvegicus	Eif5a2	ENSRNOG00000011859
drosophila_melanogaster	eEF5	FBGN0285952
caenorhabditis_elegans		WBGENE00002064
caenorhabditis_elegans		WBGENE00002065

Paralogs (2): EIF5A (ENSG00000132507), EIF5AL1 (ENSG00000253626)

Protein

Protein identifiers

Eukaryotic translation initiation factor 5A-2 — Q9GZV4 (reviewed: Q9GZV4)

Alternative names: Eukaryotic initiation factor 5A isoform 2

All UniProt accessions (4): C9J4W5, C9J7B5, Q9GZV4, F8WCJ1

UniProt curated annotations — full annotation on UniProt →

Function. Translation factor that promotes translation elongation and termination, particularly upon ribosome stalling at specific amino acid sequence contexts. Binds between the exit (E) and peptidyl (P) site of the ribosome and promotes rescue of stalled ribosome: specifically required for efficient translation of polyproline-containing peptides as well as other motifs that stall the ribosome. Acts as a ribosome quality control (RQC) cofactor by joining the RQC complex to facilitate peptidyl transfer during CAT tailing step. Also involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity.

Subunit / interactions. Binds to 80S ribosomes. Actively translating ribosomes show mutually exclusive binding of eIF5a (EIF5A or EIF5A2) and EEF2/eEF2. Interacts with DAPL1; interaction takes place at the polypeptide exit tunnel of hibernating ribosomes and prevents translation.

Subcellular location. Cytoplasm. Nucleus. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in ovarian and colorectal cancer cell lines (at protein level). Highly expressed in testis. Overexpressed in some cancer cells.

Post-translational modifications. Lys-50 undergoes hypusination, a unique post-translational modification that consists in the addition of a butylamino group from spermidine to lysine side chain and leads to the formation of a hypusine residue. eIF-5As are the only known proteins to undergo this modification, which is essential for their function.

Similarity. Belongs to the eIF-5A family.

RefSeq proteins (1): NP_065123* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001884	IF5A-like	Family
IPR008991	Translation_prot_SH3-like_sf	Homologous_superfamily
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR014722	Rib_uL2_dom2	Homologous_superfamily
IPR019769	Trans_elong_IF5A_hypusine_site	PTM
IPR020189	IF5A_C	Domain
IPR048670	IF5A-like_N	Domain

Pfam: PF01287, PF21485

UniProt features (5 total): modified residue 2, initiator methionine 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZV4-F1	88.20	0.72

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 (2): 2, 50

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-204626	Hypusine synthesis from eIF5A-lysine

MSigDB gene sets: 232 (showing top): IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_REGULATION_OF_TRANSLATIONAL_ELONGATION, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, chr3q26, GOBP_TRANSLATIONAL_TERMINATION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_TRANSLATIONAL_ELONGATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, SENESE_HDAC1_TARGETS_UP

GO Biological Process (5): translational elongation (GO:0006414), spermatogenesis (GO:0007283), positive regulation of translational elongation (GO:0045901), positive regulation of translational termination (GO:0045905), translation (GO:0006412)

GO Molecular Function (4): RNA binding (GO:0003723), translation elongation factor activity (GO:0003746), ribosome binding (GO:0043022), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational elongation	3
cellular anatomical structure	3
macromolecule biosynthetic process	2
positive regulation of translation	2
translational termination	2
intracellular membrane-bounded organelle	2
cytoplasm	2
translation	1
developmental process involved in reproduction	1
male gamete generation	1
regulation of translational elongation	1
regulation of translational termination	1
positive regulation of protein-containing complex disassembly	1
peptidyltransferase activity	1
translational initiation	1
protein metabolic process	1
protein biosynthetic process	1
nucleic acid binding	1
translation factor activity	1
ribonucleoprotein complex binding	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular anatomical structure	1
endomembrane system	1

Protein interactions and networks

STRING

2885 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF5A2	DHPS	P49366	793
EIF5A2	DOHH	Q9BU89	711
EIF5A2	XPO4	Q9C0E2	634
EIF5A2	RPL22L1	Q6P5R6	633
EIF5A2	EEF2	P13639	593
EIF5A2	EIF6	P56537	527
EIF5A2	EIF4A1	P04765	479
EIF5A2	EIF2S1	P05198	459
EIF5A2	EIF5	P55010	426
EIF5A2	EIF3B	P55884	417
EIF5A2	GAPDH	P00354	399
EIF5A2	SLC2A2	P11168	397
EIF5A2	FKBP15	Q5T1M5	396
EIF5A2	PEAK1	Q9H792	395
EIF5A2	TPI1	P00938	382

IntAct

52 interactions, top by confidence:

A	B	Type	Score
EIF5A2	DHPS	psi-mi:“MI:0915”(physical association)	0.830
DHPS	EIF5A2	psi-mi:“MI:0915”(physical association)	0.830
EIF5A2	DHPS	psi-mi:“MI:0914”(association)	0.830
EIF5A2	SDCBP	psi-mi:“MI:0915”(physical association)	0.720
SDCBP	EIF5A2	psi-mi:“MI:0915”(physical association)	0.720
DCC	NTN1	psi-mi:“MI:0914”(association)	0.700
REL	EIF5A2	psi-mi:“MI:0915”(physical association)	0.560
EIF5A2	NIF3L1	psi-mi:“MI:0915”(physical association)	0.560
EIF5A2	CDC23	psi-mi:“MI:0915”(physical association)	0.560
EIF5A2	REL	psi-mi:“MI:0915”(physical association)	0.560
NIF3L1	EIF5A2	psi-mi:“MI:0915”(physical association)	0.560
CDC23	EIF5A2	psi-mi:“MI:0915”(physical association)	0.560
EIF5A2	BRAF	psi-mi:“MI:0915”(physical association)	0.550
EIF5A2	BRAF	psi-mi:“MI:2364”(proximity)	0.550
DOHH	IDE	psi-mi:“MI:0914”(association)	0.530
EIF5A2	RAB30	psi-mi:“MI:0915”(physical association)	0.370
EIF5A2	PTBP2	psi-mi:“MI:0915”(physical association)	0.370
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
NEK4	QSOX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (72): EIF5A2 (Two-hybrid), EIF5A2 (Two-hybrid), EIF5A2 (Two-hybrid), EIF5A2 (Two-hybrid), NIF3L1 (Two-hybrid), EIF5A2 (Affinity Capture-MS), EIF5A2 (Two-hybrid), EIF5A2 (Co-fractionation), EIF5A2 (Co-fractionation), MYCBP (Co-fractionation), TAGLN2 (Co-fractionation), EIF5A2 (Proximity Label-MS), EIF5A2 (Affinity Capture-MS), EIF5A2 (Affinity Capture-MS), HIF1A (Reconstituted Complex)

ESM2 similar proteins: A4GVE9, E9AXF0, O94083, O97472, P10160, P13651, P19211, P23301, P24922, P26564, P34563, P38672, P56289, P56333, P56335, P56336, P56337, P62924, P62925, P63241, P63242, P69039, P69040, P80639, Q07460, Q09121, Q20728, Q20751, Q387H6, Q3T1J1, Q5R898, Q6EWQ7, Q6IS14, Q6NX89, Q7SA95, Q7ZXG3, Q8BGY2, Q93VP3, Q945F4, Q9AXJ4

Diamond homologs: A0B9S8, A1RS27, A1RX88, A2BNB6, A3CU49, A3DNK3, A3MTA0, A4FXY5, A4GVE9, A4WLN5, A4YHK9, A5ULK4, A6UNS4, A6UVH4, A6VFP3, A7I807, A8ABK3, A8MD73, A9AAZ2, B0R6B4, B1L7A5, B1Y9U5, B6YTM4, B8D4W8, B8GEC0, B9LP76, C3MPN5, C3MYM9, C3N5B1, C3NDW5, C3NHT8, C4KGX7, C5A5M5, C6A117, E9AXF0, O26955, O29612, O50089, O94083, P10160

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

805 predictions. Top by Δscore:

Variant	Effect	Δscore
3:170893297:TAGA:T	donor_gain	1.0000
3:170893298:AGAA:A	donor_gain	1.0000
3:170894424:C:CC	acceptor_gain	1.0000
3:170906983:GCTTA:G	donor_loss	1.0000
3:170906984:CTTAC:C	donor_loss	1.0000
3:170906985:TTA:T	donor_loss	1.0000
3:170906987:A:AC	donor_gain	1.0000
3:170906987:ACT:A	donor_loss	1.0000
3:170906988:C:CA	donor_gain	1.0000
3:170906988:CTTG:C	donor_gain	1.0000
3:170907091:AACC:A	acceptor_loss	1.0000
3:170907093:CCT:C	acceptor_loss	1.0000
3:170907094:C:CC	acceptor_gain	1.0000
3:170907094:CTA:C	acceptor_loss	1.0000
3:170907098:C:CT	acceptor_gain	1.0000
3:170907099:A:T	acceptor_gain	1.0000
3:170907639:TACCT:T	donor_loss	1.0000
3:170907640:A:AC	donor_gain	1.0000
3:170907640:AC:A	donor_gain	1.0000
3:170907641:C:CT	donor_gain	1.0000
3:170907641:CC:C	donor_gain	1.0000
3:170907641:CCT:C	donor_gain	1.0000
3:170907641:CCTT:C	donor_gain	1.0000
3:170907641:CCTTG:C	donor_gain	1.0000
3:170907842:C:CC	acceptor_gain	1.0000
3:170893270:A:AC	donor_gain	0.9900
3:170893298:AGAAC:A	donor_gain	0.9900
3:170894420:TCAG:T	acceptor_gain	0.9900
3:170894421:CAG:C	acceptor_gain	0.9900
3:170894421:CAGC:C	acceptor_gain	0.9900

AlphaMissense

1007 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:170907014:G:T	P82Q	1.000
3:170907017:A:T	V81D	1.000
3:170907035:G:A	S75F	1.000
3:170907080:C:T	G60E	1.000
3:170907081:C:G	G60R	1.000
3:170907081:C:T	G60R	1.000
3:170907086:A:G	L58P	1.000
3:170907092:A:T	V56D	1.000
3:170907642:C:A	K55N	1.000
3:170907642:C:G	K55N	1.000
3:170907644:T:C	K55E	1.000
3:170907646:G:T	A54D	1.000
3:170907650:G:C	H53D	1.000
3:170907652:C:A	G52V	1.000
3:170907652:C:G	G52A	1.000
3:170907652:C:T	G52D	1.000
3:170907653:C:A	G52C	1.000
3:170907653:C:G	G52R	1.000
3:170907653:C:T	G52S	1.000
3:170907654:A:C	H51Q	1.000
3:170907654:A:T	H51Q	1.000
3:170907655:T:C	H51R	1.000
3:170907656:G:C	H51D	1.000
3:170907656:G:T	H51N	1.000
3:170907657:C:A	K50N	1.000
3:170907657:C:G	K50N	1.000
3:170907658:T:A	K50M	1.000
3:170907659:T:C	K50E	1.000
3:170907659:T:G	K50Q	1.000
3:170907661:C:A	G49V	1.000

dbSNP variants (sampled 300 via entrez): RS1000100359 (3:170900199 C>G,T), RS1000231879 (3:170907413 T>C), RS1000696157 (3:170890481 C>T), RS1000777466 (3:170910474 A>G), RS1001207487 (3:170897608 G>C), RS1001271886 (3:170908281 G>A,C,T), RS1001353469 (3:170893178 T>C), RS1001357819 (3:170893938 G>A), RS1001392023 (3:170893904 G>A), RS1001426081 (3:170900118 C>T), RS1001616616 (3:170908067 G>C), RS1001870334 (3:170900443 T>G), RS1001977292 (3:170905657 C>T), RS1002252958 (3:170892474 A>C), RS1002301214 (3:170894148 A>T)

Disease associations

OMIM: gene MIM:605782 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007615_2	C-reactive protein levels	3.000000e-09
GCST008972_50	Urate levels	4.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	decreases expression, increases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
sodium arsenate	increases abundance, increases expression	1
kojic acid	increases expression	1
trichostatin A	affects expression	1
sulforaphane	increases expression	1
sodium arsenite	increases expression	1
tobacco tar	increases expression	1
manganese chloride	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
bromovanin	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
GANT 61	decreases expression	1
NSC 689534	affects binding, increases expression	1
(+)-JQ1 compound	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	decreases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Calcitriol	increases expression	1

Clinical trials (associated diseases)

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