EIF2B5

Summary

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon, HGNC:3261) is a protein-coding gene on chromosome 3q27.1, encoding Translation initiation factor eIF2B subunit epsilon (Q13144). Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit. It is a common-essential gene (DepMap: required in 97.0% of cancer cell lines).

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter.

Source: NCBI Gene 8893 — RefSeq curated summary.

At a glance

• Gene–disease (curated): leukoencephalopathy with vanishing white matter 5 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 28
• Clinical variants (ClinVar): 853 total — 49 pathogenic, 46 likely-pathogenic
• Phenotypes (HPO): 11
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 97.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_003907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3261
Approved symbol	EIF2B5
Name	eukaryotic translation initiation factor 2B subunit epsilon
Location	3q27.1
Locus type	gene with protein product
Status	Approved
Aliases	EIF2Bepsilon, EIF-2B
Ensembl gene	ENSG00000145191
Ensembl biotype	protein_coding
OMIM	603945
Entrez	8893

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 17 nonsense_mediated_decay, 16 protein_coding, 10 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000432569, ENST00000432982, ENST00000465218, ENST00000468748, ENST00000471832, ENST00000479250, ENST00000481054, ENST00000484154, ENST00000491008, ENST00000491144, ENST00000492226, ENST00000492773, ENST00000493740, ENST00000498831, ENST00000647636, ENST00000647909, ENST00000648145, ENST00000648189, ENST00000648256, ENST00000648314, ENST00000648599, ENST00000648630, ENST00000648682, ENST00000648882, ENST00000648890, ENST00000648915, ENST00000649545, ENST00000649688, ENST00000649814, ENST00000650244, ENST00000650270, ENST00000896962, ENST00000896963, ENST00000896965, ENST00000896966, ENST00000896968, ENST00000896969, ENST00000926646, ENST00000926647, ENST00000926648, ENST00000926649, ENST00000950216, ENST00000950217, ENST00000950218

RefSeq mRNA: 1 — MANE Select: NM_003907 NM_003907

CCDS: CCDS3252

Canonical transcript exons

ENST00000648915 — 16 exons

Exon	Start	End
ENSE00002454580	184144884	184145311
ENSE00003475918	184143052	184143142
ENSE00003492021	184140418	184140730
ENSE00003514319	184136612	184136736
ENSE00003534680	184143442	184143565
ENSE00003536383	184142502	184142603
ENSE00003617725	184140080	184140157
ENSE00003632558	184144597	184144707
ENSE00003643722	184137898	184138075
ENSE00003649614	184141925	184142070
ENSE00003651593	184138166	184138246
ENSE00003656619	184144099	184144224
ENSE00003668116	184142779	184142886
ENSE00003675665	184137620	184137805
ENSE00003682432	184142237	184142378
ENSE00003835844	184135358	184135580

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 95.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.7584 / max 166.4055, expressed in 1821 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40123	27.4783	1821
40121	0.6996	298
40122	0.5805	308

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.25	gold quality
tendon of biceps brachii	UBERON:0008188	95.13	gold quality
gastrocnemius	UBERON:0001388	94.76	gold quality
adenohypophysis	UBERON:0002196	94.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.70	gold quality
middle temporal gyrus	UBERON:0002771	94.56	gold quality
cerebellar hemisphere	UBERON:0002245	94.52	gold quality
muscle of leg	UBERON:0001383	94.50	gold quality
cerebellar cortex	UBERON:0002129	94.31	gold quality
cervix squamous epithelium	UBERON:0006922	94.24	silver quality
pituitary gland	UBERON:0000007	94.13	gold quality
minor salivary gland	UBERON:0001830	93.97	gold quality
mucosa of transverse colon	UBERON:0004991	93.83	gold quality
granulocyte	CL:0000094	93.79	gold quality
right lobe of thyroid gland	UBERON:0001119	93.78	gold quality
skin of leg	UBERON:0001511	93.69	gold quality
skin of abdomen	UBERON:0001416	93.59	gold quality
body of stomach	UBERON:0001161	93.58	gold quality
metanephros cortex	UBERON:0010533	93.52	gold quality
left lobe of thyroid gland	UBERON:0001120	93.51	gold quality
rectum	UBERON:0001052	93.37	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.34	gold quality
esophagus mucosa	UBERON:0002469	93.33	gold quality
saliva-secreting gland	UBERON:0001044	93.31	gold quality
right uterine tube	UBERON:0001302	93.31	gold quality
body of pancreas	UBERON:0001150	93.27	gold quality
tendon	UBERON:0000043	93.20	gold quality
tonsil	UBERON:0002372	93.19	gold quality
transverse colon	UBERON:0001157	93.13	gold quality
cerebellum	UBERON:0002037	93.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.98
E-MTAB-7606	no	763.69

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB

miRNA regulators (miRDB)

25 targeting EIF2B5, 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-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-7110-3P	100.00	73.18	2486
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-1228-3P	99.00	66.53	857
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-1183	98.75	67.10	1116
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-621	96.76	66.89	371
HSA-MIR-6777-3P	95.35	64.30	699

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 25)

• Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. (PMID:12325082)
• Mutation in EIF2B5 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy. (PMID:12707859)
• We demonstrated that mutations in the gene EIF2B5 cause “leukoencephalopathy with vanishing white matter.” This gene encodes one of the five subunits of the translation factor eIF2B. (PMID:14572143)
• Biochemical analyses indicate that mutations analyzed in eIF2Balpha and -epsilon reduce the steady-state level of the affected subunit, while the most severe mutant tested, eIF2Bbeta(V341D), forms complexes with reduced stability and lower eIF2B activity. (PMID:14993275)
• mutations in EIF2b5 causes a specific reduction in the generation of GFAP+ astrocytes in vanishing white matter disease (PMID:15723074)
• Arg113His mutation in eIF2B5 associated with adult onset of vanishing white matter leukoencephalopathy is not present in multiple sclerosis patients (PMID:17439913)
• We describe progressive megalencephaly and severe brain abnormalities due to specific EIF2Bepsilon mutations in two unrelated families. (PMID:17646634)
• Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to more than 120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon) (PMID:18263758)
• These data support the importance of the non-catalytic domain of the eIF2Bepsilon subunit in the eIF2B complex formation and activity. (PMID:18294360)
• no evidence for the involvement of EIF2B5 in multiple sclerosis susceptibility in France (PMID:18562513)
• Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men. (PMID:18565837)
• The clinical phenotype in vanishing white matter disease is influenced by the combination of both mutations(p.Arg113His and p.Thr91Ala/p.Arg339any). Females tend to do better than males. (PMID:20975056)
• crystal structure of the guanine nucleotide exchange factor for elf2 (PMID:21204011)
• Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bepsilon (eIF2Bepsilon) identified in Chinese patients with vanishing white matter disease (PMID:21307862)
• Also a mutation c.1913G>A[p.Arg638 His] in exon 14 of the EIF2B5-Gens as single nucleotide polymorphism. (PMID:21503715)
• Missense mutations in EIF2B5 are associated with multiple sclerosis. (PMID:24980014)
• Patient exhibits an early-infantile onset and progressive disease course resembling Cree leukoencephalopathy, suggesting a severe functional disruption of eIF2Bepsilon caused by R195H as well as by I408T mutations. (PMID:25457085)
• This study demonstrated that no evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley if India. (PMID:26671108)
• Exon-level analyses classified > 1,000 mRNAs as alternatively spliced under hypoxia and uncovered a unique retained intron (RI) in the master regulator of translation initiation, EIF2B5. (PMID:28961236)
• low expression found in ovarian cancer tissues and correlated with survival status (PMID:32000373)
• Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. (PMID:32293553)
• eIF2B as a Target for Viral Evasion of PKR-Mediated Translation Inhibition. (PMID:32665273)
• Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response. (PMID:33300869)
• CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway. (PMID:35710311)
• A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature. (PMID:37674283)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif2b5	ENSDARG00000074995
mus_musculus	Eif2b5	ENSMUSG00000003235
rattus_norvegicus	Eif2b5	ENSRNOG00000038160
drosophila_melanogaster	eIF2Bepsilon	FBGN0023512
caenorhabditis_elegans		WBGENE00008428

Paralogs (3): EIF2B3 (ENSG00000070785), GMPPA (ENSG00000144591), GMPPB (ENSG00000173540)

Protein

Protein identifiers

Translation initiation factor eIF2B subunit epsilon — Q13144 (reviewed: Q13144)

Alternative names: eIF2B GDP-GTP exchange factor subunit epsilon

All UniProt accessions (18): A0A3B3IRP4, A0A3B3IS56, A0A3B3ISA5, A0A3B3ISI2, A0A3B3ISM8, A0A3B3ISS1, Q13144, A0A3B3IST9, A0A3B3ISV1, A0A3B3ISX3, A0A3B3IT53, A0A3B3ITG6, A0A3B3ITK8, A0A3B3ITQ2, A0A3B3IUB1, A0A3B3IUF2, C9JRD9, H7C2X0

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit. Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed.

Subunit / interactions. Component of the translation initiation factor 2B (eIF2B) complex which is a heterodecamer of two sets of five different subunits: alpha, beta, gamma, delta and epsilon. Subunits alpha, beta and delta comprise a regulatory subcomplex and subunits epsilon and gamma comprise a catalytic subcomplex. Within the complex, the hexameric regulatory complex resides at the center, with the two heterodimeric catalytic subcomplexes bound on opposite sides.

Subcellular location. Cytoplasm. Cytosol.

Post-translational modifications. Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B. Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function. Polyubiquitinated, probably by NEDD4.

Disease relevance. Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated by the chemical integrated stress response (ISR) inhibitor ISRIB which stimulates guanine nucleotide exchange factor activity for both phosphorylated and unphosphorylated eIF2.

Similarity. Belongs to the eIF-2B gamma/epsilon subunits family.

RefSeq proteins (1): NP_003898* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003307	W2_domain	Domain
IPR011004	Trimer_LpxA-like_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR035543	eIF-2B_epsilon_N	Domain
IPR044123	W2_eIF2B_epsilon	Domain
IPR051956	eIF2B_epsilon	Family
IPR056764	LbH_EIF2B3/5	Domain

Pfam: PF02020, PF25084

UniProt features (119 total): sequence variant 31, strand 30, helix 25, modified residue 12, turn 7, cross-link 4, compositionally biased region 4, region of interest 3, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

26 structures.

PDB	Method	Resolution (Å)
3JUI	X-RAY DIFFRACTION	2
7VLK	ELECTRON MICROSCOPY	2.27
7F64	ELECTRON MICROSCOPY	2.42
7RLO	ELECTRON MICROSCOPY	2.6
9HVE	ELECTRON MICROSCOPY	2.7
7F66	ELECTRON MICROSCOPY	2.76
6CAJ	ELECTRON MICROSCOPY	2.8
7L70	ELECTRON MICROSCOPY	2.8
7TRJ	ELECTRON MICROSCOPY	2.8
9QC6	ELECTRON MICROSCOPY	2.83
8TQZ	ELECTRON MICROSCOPY	2.9
7KMF	ELECTRON MICROSCOPY	2.91
7L7G	ELECTRON MICROSCOPY	3
6O85	ELECTRON MICROSCOPY	3.03
6O9Z	ELECTRON MICROSCOPY	3.03
9HVD	ELECTRON MICROSCOPY	3.04
8TQO	ELECTRON MICROSCOPY	3.1
6O81	ELECTRON MICROSCOPY	3.21
7F67	ELECTRON MICROSCOPY	3.59
7D45	ELECTRON MICROSCOPY	3.8
7D44	ELECTRON MICROSCOPY	4
7D46	ELECTRON MICROSCOPY	4
6EZO	ELECTRON MICROSCOPY	4.1
6K71	ELECTRON MICROSCOPY	4.3
7D43	ELECTRON MICROSCOPY	4.3
6K72	ELECTRON MICROSCOPY	4.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13144-F1	79.35	0.41

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 (16): 2, 19, 27, 130, 322, 450, 466, 469, 532, 540, 544, 717, 61, 103, 141, 217

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-72731	Recycling of eIF2:GDP

MSigDB gene sets: 235 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, TGCGCANK_UNKNOWN, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_GLIAL_CELL_DEVELOPMENT, GOBP_TRANSLATIONAL_INITIATION, GOBP_NEUROGENESIS, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_REGULATION_OF_IMMUNE_RESPONSE

GO Biological Process (17): ovarian follicle development (GO:0001541), cytoplasmic translational initiation (GO:0002183), translational initiation (GO:0006413), response to heat (GO:0009408), response to glucose (GO:0009749), astrocyte development (GO:0014002), oligodendrocyte development (GO:0014003), hippocampus development (GO:0021766), response to endoplasmic reticulum stress (GO:0034976), myelination (GO:0042552), positive regulation of apoptotic process (GO:0043065), response to peptide hormone (GO:0043434), positive regulation of translational initiation (GO:0045948), astrocyte differentiation (GO:0048708), T cell receptor signaling pathway (GO:0050852), translation (GO:0006412), positive regulation of translation (GO:0045727)

GO Molecular Function (4): translation initiation factor activity (GO:0003743), guanyl-nucleotide exchange factor activity (GO:0005085), translation initiation factor binding (GO:0031369), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), eukaryotic translation initiation factor 2B complex (GO:0005851)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cap-dependent Translation Initiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational initiation	4
anatomical structure development	2
translation	2
glial cell development	2
cellular anatomical structure	2
cytoplasm	2
female gonad development	1
cytoplasmic translation	1
formation of translation initiation ternary complex	1
metabolic process	1
response to stress	1
response to temperature stimulus	1
response to hexose	1
astrocyte differentiation	1
oligodendrocyte differentiation	1
pallium development	1
limbic system development	1
cellular response to stress	1
axon ensheathment	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
response to hormone	1
response to nitrogen compound	1
response to oxygen-containing compound	1
regulation of translational initiation	1
positive regulation of translation	1
central nervous system development	1
glial cell differentiation	1
antigen receptor-mediated signaling pathway	1
peptidyltransferase activity	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
translation factor activity	1

Protein interactions and networks

STRING

2560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF2B5	EIF2B1	Q14232	998
EIF2B5	EIF2B2	P49770	995
EIF2B5	EIF2B4	Q9UI10	995
EIF2B5	EIF2B3	Q9NR50	985
EIF2B5	EIF2S3	P41091	961
EIF2B5	RABIF	P47224	901
EIF2B5	EIF2AK4	Q9P2K8	849
EIF2B5	EIF2S1	P05198	818
EIF2B5	EIF2S2	P20042	759
EIF2B5	EIF5	P55010	736
EIF2B5	EIF2AK3	Q9NZJ5	649
EIF2B5	EIF3M	Q7L2H7	636
EIF2B5	EIF1	P41567	580
EIF2B5	GSK3B	P49841	558
EIF2B5	PLP1	P04400	536

IntAct

172 interactions, top by confidence:

A	B	Type	Score
STX11	SNAP23	psi-mi:“MI:0914”(association)	0.900
EIF2B1	EIF2B2	psi-mi:“MI:0915”(physical association)	0.860
EIF2B1	EIF2B5	psi-mi:“MI:0914”(association)	0.860
EIF2B1	EIF2B2	psi-mi:“MI:0914”(association)	0.860
EIF2B2	EIF2B5	psi-mi:“MI:0915”(physical association)	0.830
STX11	EIF2B5	psi-mi:“MI:0915”(physical association)	0.670
EIF2B2	SLC27A2	psi-mi:“MI:0914”(association)	0.640
ILVBL	COG7	psi-mi:“MI:0914”(association)	0.640
P2RX4	FAM20B	psi-mi:“MI:0914”(association)	0.640
DYNC1H1	EIF2B5	psi-mi:“MI:0915”(physical association)	0.560
KLK6	EIF2B5	psi-mi:“MI:0915”(physical association)	0.560
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530

BioGRID (257): EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS), EIF2B2 (Co-fractionation)

ESM2 similar proteins: A0A0B7P9G0, A0A0R4IMY7, A0JPA0, D3ZAA9, O35454, P0C1Q3, P0C588, P16067, P20594, P32232, P33402, P35525, P46197, P47823, P51432, P51788, Q01970, Q13144, Q14168, Q1LWG4, Q32PX9, Q3TWN3, Q3USB7, Q3V384, Q4U2V3, Q502J0, Q5EBA1, Q5U2P1, Q62688, Q66K14, Q69ZF7, Q6P4Q7, Q7L5N7, Q80YD1, Q8BYI6, Q8CIR4, Q8IYB8, Q8K394, Q8WV93, Q91WT9

Diamond homologs: P47823, P56287, Q0P8J8, Q13144, Q54RF3, Q5R7L4, Q5ZLT7, Q64350, Q6P2Z0, Q6P7P5, Q7L1Q6, Q8AVM7, Q8CHW4, Q9CQC6, D4GU70, P32501, P37820, P87163, Q1LUC1, Q2L4X1, Q4R6R4, Q6PD83, Q88QT2, Q91VK1, Q9WTT7, Q9Y6E2, A2VD83, A3QMC8, B9CM12, O22287, O31822, O74484, O74624, O93827, P08075, P0A2K7, P0A2K8, P0AAB6, P0AAB7, P0C5I2

SIGNOR signaling

16 interactions.

A	Effect	B	Mechanism
GSK3B	down-regulates	EIF2B5	binding
GSK3B	down-regulates	EIF2B5	phosphorylation
CSNK1A1	unknown	EIF2B5	phosphorylation
CSNK2A1	“up-regulates activity”	EIF2B5	phosphorylation
CSNK2A2	“up-regulates activity”	EIF2B5	phosphorylation
GSK3A	“down-regulates activity”	EIF2B5	phosphorylation
GSK3B	“down-regulates activity”	EIF2B5	phosphorylation
EIF2B5	“up-regulates activity”	EIF2S1	“guanine nucleotide exchange factor”
EIF2B5	“up-regulates activity”	EIF2S2	“guanine nucleotide exchange factor”
EIF2B5	“up-regulates activity”	EIF2S3	“guanine nucleotide exchange factor”
EIF2B5	“up-regulates activity”	Ternary_GTP_eIF2_tRNA_complex	“guanine nucleotide exchange factor”
FRAT1	“up-regulates activity”	EIF2B5	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 181 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
T cell costimulation	7	16.9×	1e-04
translational initiation	7	16.2×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	49
Likely pathogenic	46
Uncertain significance	231
Likely benign	438
Benign	14

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1028674	NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter)	Pathogenic
1070136	NM_003907.3(EIF2B5):c.1196del (p.Gly399fs)	Pathogenic
1071687	NM_003907.3(EIF2B5):c.1543_1544del (p.Trp515fs)	Pathogenic
1072193	NM_003907.3(EIF2B5):c.1487del (p.Leu496fs)	Pathogenic
1335978	NM_003907.3(EIF2B5):c.820C>T (p.Arg274Ter)	Pathogenic
1352082	NM_003907.3(EIF2B5):c.1182del (p.Tyr395fs)	Pathogenic
1397252	NM_003907.3(EIF2B5):c.702dup (p.Ser235Ter)	Pathogenic
1405188	NM_003907.3(EIF2B5):c.1590del (p.Glu530fs)	Pathogenic
1420544	NM_003907.3(EIF2B5):c.805C>T (p.Arg269Ter)	Pathogenic
1451172	NM_003907.3(EIF2B5):c.406C>T (p.Arg136Cys)	Pathogenic
1451793	NM_003907.3(EIF2B5):c.946C>T (p.Arg316Ter)	Pathogenic
1453780	NM_003907.3(EIF2B5):c.1884G>A (p.Trp628Ter)	Pathogenic
1453942	NM_003907.3(EIF2B5):c.1129del (p.Ser377fs)	Pathogenic
1685765	NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser)	Pathogenic
1707203	NM_003907.3(EIF2B5):c.799C>T (p.Gln267Ter)	Pathogenic
1806183	NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter)	Pathogenic
195203	NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)	Pathogenic
1994086	NM_003907.3(EIF2B5):c.350_351del (p.Leu117fs)	Pathogenic
2025301	NM_003907.3(EIF2B5):c.1484del (p.Tyr495fs)	Pathogenic
2097660	NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs)	Pathogenic
2098216	NM_003907.3(EIF2B5):c.250del (p.Thr84fs)	Pathogenic
2203468	NM_003907.3(EIF2B5):c.218T>G (p.Val73Gly)	Pathogenic
2424793	NC_000003.11:g.(?183857858)(183862741_?)del	Pathogenic
2691284	NM_003907.3(EIF2B5):c.1930G>T (p.Glu644Ter)	Pathogenic
2734599	NM_003907.3(EIF2B5):c.1684C>T (p.Gln562Ter)	Pathogenic
2734601	NM_003907.3(EIF2B5):c.1813del (p.Leu605fs)	Pathogenic
2736131	NM_003907.3(EIF2B5):c.470C>G (p.Ser157Ter)	Pathogenic
2766433	NM_003907.3(EIF2B5):c.872dup (p.Thr292fs)	Pathogenic
2768396	NM_003907.3(EIF2B5):c.692_702del (p.Leu230_Phe231insTer)	Pathogenic
2782153	NM_003907.3(EIF2B5):c.792delinsACA (p.Phe264fs)	Pathogenic

SpliceAI

2675 predictions. Top by Δscore:

Variant	Effect	Δscore
3:184136684:G:GT	donor_gain	1.0000
3:184136685:A:T	donor_gain	1.0000
3:184136737:G:GG	donor_gain	1.0000
3:184137619:GGA:G	acceptor_gain	1.0000
3:184137619:GGAA:G	acceptor_gain	1.0000
3:184138006:GGAT:G	donor_gain	1.0000
3:184138164:A:AG	acceptor_gain	1.0000
3:184138165:G:GG	acceptor_gain	1.0000
3:184138165:GA:G	acceptor_gain	1.0000
3:184138242:CTCAG:C	donor_loss	1.0000
3:184138243:TCAGG:T	donor_loss	1.0000
3:184138244:CAG:C	donor_loss	1.0000
3:184138245:AGGT:A	donor_loss	1.0000
3:184138246:GGTGA:G	donor_loss	1.0000
3:184138247:GTGA:G	donor_loss	1.0000
3:184138248:T:G	donor_loss	1.0000
3:184140074:CCACA:C	acceptor_loss	1.0000
3:184140075:CACA:C	acceptor_loss	1.0000
3:184140077:CA:C	acceptor_loss	1.0000
3:184140155:G:GT	donor_gain	1.0000
3:184142231:CCTTA:C	acceptor_loss	1.0000
3:184142232:CTTAG:C	acceptor_loss	1.0000
3:184142233:TTA:T	acceptor_loss	1.0000
3:184142234:TAG:T	acceptor_loss	1.0000
3:184142235:A:AC	acceptor_loss	1.0000
3:184142235:A:AG	acceptor_gain	1.0000
3:184142235:AG:A	acceptor_gain	1.0000
3:184142235:AGGT:A	acceptor_gain	1.0000
3:184142235:AGGTG:A	acceptor_gain	1.0000
3:184142236:G:GT	acceptor_gain	1.0000

AlphaMissense

4744 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:184137706:G:C	R136P	1.000
3:184140104:T:C	F264L	1.000
3:184140106:T:A	F264L	1.000
3:184140106:T:G	F264L	1.000
3:184136694:T:A	V93D	0.999
3:184137693:G:A	G132R	0.999
3:184137693:G:C	G132R	0.999
3:184137694:G:A	G132E	0.999
3:184137703:T:C	L135P	0.999
3:184137705:C:A	R136S	0.999
3:184138237:T:G	C252W	0.999
3:184140103:C:A	N263K	0.999
3:184140103:C:G	N263K	0.999
3:184143067:T:A	V557D	0.999
3:184143118:T:C	L574P	0.999
3:184143127:A:T	E577V	0.999
3:184143128:A:C	E577D	0.999
3:184143128:A:T	E577D	0.999
3:184143135:T:C	S580P	0.999
3:184143139:T:C	L581P	0.999
3:184143447:C:A	A584D	0.999
3:184144906:T:C	L710P	0.999
3:184137694:G:T	G132V	0.998
3:184137703:T:A	L135H	0.998
3:184137741:T:C	F148L	0.998
3:184137743:T:A	F148L	0.998
3:184137743:T:G	F148L	0.998
3:184138235:T:C	C252R	0.998
3:184140090:T:C	L259P	0.998
3:184140105:T:G	F264C	0.998

dbSNP variants (sampled 300 via entrez): RS1000246272 (3:184138897 A>C), RS1000521365 (3:184144441 T>C), RS1000636351 (3:184136677 T>C,G), RS1000701491 (3:184138649 C>A,T), RS1000985816 (3:184136976 A>G), RS1001303286 (3:184140273 C>A,T), RS1001347715 (3:184133627 G>A), RS1001401609 (3:184133927 T>C), RS1002008468 (3:184137193 G>A), RS1002081116 (3:184145691 C>T), RS1002474766 (3:184138921 C>T), RS1002697060 (3:184140361 TGGG>T,TGG,TGGGG), RS1003294633 (3:184138756 C>T), RS1003746706 (3:184135207 C>A,T), RS1003972659 (3:184134972 G>A)

Disease associations

OMIM: gene MIM:603945 | disease phenotypes: MIM:603896, MIM:620315, MIM:312080

GenCC curated gene-disease

Disease	Classification	Inheritance
leukoencephalopathy with vanishing white matter	Definitive	Autosomal recessive
leukoencephalopathy with vanishing white matter 5	Definitive	Autosomal recessive
leukoencephalopathy with vanishing white matter 1	Strong	Autosomal recessive
ovarioleukodystrophy	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
leukoencephalopathy with vanishing white matter 5	Definitive	AR

Mondo (7): leukoencephalopathy with vanishing white matter (MONDO:0800448), leukoencephalopathy with vanishing white matter 5 (MONDO:0957873), leukoencephalopathy with vanishing white matter 1 (MONDO:0020507), leukodystrophy (MONDO:0019046), hereditary breast ovarian cancer syndrome (MONDO:0003582), (MONDO:0011380), (MONDO:0020506)

Orphanet (5): CACH syndrome (Orphanet:135), Ovarioleukodystrophy (Orphanet:99853), Cree leukoencephalopathy (Orphanet:99854), Leukodystrophy (Orphanet:68356), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001259	Coma
HP:0001355	Megalencephaly
HP:0002344	Progressive neurologic deterioration
HP:0002500	Abnormal cerebral white matter morphology
HP:0002505	Loss of ambulation
HP:0003593	Infantile onset
HP:0006956	Lateral ventricle dilatation
HP:0007082	Dilated third ventricle
HP:0011463	Childhood onset
HP:6000447	Decreased CSF asialotransferrin to transferrin ratio

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST001469_1	Major depressive disorder	5.000000e-06
GCST004603_258	Platelet count	4.000000e-38
GCST004603_261	Platelet count	4.000000e-51
GCST004603_262	Platelet count	2.000000e-50
GCST004607_262	Plateletcrit	9.000000e-42
GCST004607_265	Plateletcrit	9.000000e-63
GCST004607_266	Plateletcrit	4.000000e-65
GCST004628_65	Immature fraction of reticulocytes	3.000000e-09
GCST006269_778	General cognitive ability	2.000000e-09
GCST010242_90	HDL cholesterol levels	3.000000e-08
GCST010699_102	Brain morphology (min-P)	2.000000e-11
GCST010701_37	Cortical surface area (MOSTest)	2.000000e-24
GCST010702_18	Subcortical volume (MOSTest)	5.000000e-08
GCST010703_130	Brain morphology (MOSTest)	3.000000e-08
GCST90002387_84	Immature fraction of reticulocytes	8.000000e-15
GCST90002390_302	Mean corpuscular hemoglobin	6.000000e-09
GCST90002392_723	Mean corpuscular volume	1.000000e-12
GCST90002400_411	Plateletcrit	4.000000e-13
GCST90002400_412	Plateletcrit	4.000000e-30
GCST90002400_415	Plateletcrit	1.000000e-85
GCST90002400_416	Plateletcrit	1.000000e-14
GCST90002400_417	Plateletcrit	9.000000e-109
GCST90002402_662	Platelet count	4.000000e-13
GCST90002402_663	Platelet count	8.000000e-29
GCST90002402_666	Platelet count	1.000000e-67
GCST90002402_667	Platelet count	2.000000e-13
GCST90002402_668	Platelet count	4.000000e-82
GCST90002403_558	Red blood cell count	5.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count
EFO:0004337	intelligence
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725120 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.51	IC50	310	nM	MOLIBRESIB
5.29	Kd	5145	nM	CHEMBL3752910
5.29	ED50	5145	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 8 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178892: Inhibition of EIF2B5 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.3100	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149856: Binding affinity to human EIF2B5 incubated for 45 mins by Kinobead based pull down assay	kd	5.1453	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
bufotalin	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
abrine	increases 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
bisphenol AF	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Cadmium	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	affects expression	1
Colforsin	increases expression	1
Haloperidol	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Thiram	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Copper Sulfate	decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652898	Binding	Binding affinity to human EIF2B5 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_E4U3	KOLF2.1J EIF2B5 9.7kbdel DEL/WT	Induced pluripotent stem cell	Male
CVCL_E7KS	KOLF2.1J EIF2B5 R195H SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E7KT	KOLF2.1J EIF2B5 R195H SNV/WT	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02562170	PHASE4	COMPLETED	Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00673335	PHASE3	COMPLETED	Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256	PHASE3	COMPLETED	Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276	PHASE3	UNKNOWN	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00253539	PHASE2	COMPLETED	Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695	PHASE2	COMPLETED	Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633	PHASE2	COMPLETED	Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748	PHASE2	COMPLETED	Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639	PHASE2	COMPLETED	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00535119	PHASE1	COMPLETED	Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
NCT00892736	PHASE1	COMPLETED	Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy
NCT05757141	PHASE1/PHASE2	RECRUITING	An Open-Label Exploratory Study of Fosigotifator in Participants With Vanishing White Matter Disease
NCT07272525	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Research Study for Single-Patient Treatment of Cree Leukoencephalopathy/Vanishing White Matter Disease
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT06594016	Not specified	NO_LONGER_AVAILABLE	Expanded Access to Fosigotifator
NCT07300397	Not specified	ACTIVE_NOT_RECRUITING	Single Patient Investigational Treatment for Cree Leukoencephalopathy
NCT00889174	Not specified	COMPLETED	The Nosology and Etiology of Leukodystrophies of Unknown Causes
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02843555	Not specified	COMPLETED	Natural History of the Leukodystrophies
NCT03639285	Not specified	RECRUITING	Natural History, Diagnosis, and Outcomes for Leukodystrophies
NCT05443906	Not specified	RECRUITING	Home Exercise for Individuals with Neurodegenerative Disease
NCT03832985	EARLY_PHASE1	COMPLETED	Pediatric Reporting of Adult-Onset Genomic Results
NCT00005095	Not specified	RECRUITING	Specimen and Data Study for Ovarian Cancer Early Detection and Prevention
NCT00609505	Not specified	COMPLETED	Telemedicine vs. Face-to-Face Cancer Genetic Counseling
NCT01273909	Not specified	UNKNOWN	Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment
NCT01445275	Not specified	WITHDRAWN	Cost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199
NCT01608074	Not specified	ACTIVE_NOT_RECRUITING	Radical Fimbriectomy for Young BRCA Mutation Carriers
NCT02087592	Not specified	COMPLETED	Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02302742	Not specified	RECRUITING	Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
NCT02324062	Not specified	COMPLETED	Cancer Genetics Hereditary Cancer Panel Testing
NCT02516540	Not specified	UNKNOWN	Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02653105	Not specified	ACTIVE_NOT_RECRUITING	Women at Risk of Breast Cancer and OLFM4
NCT02705924	Not specified	TERMINATED	Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk
NCT02760849	Not specified	ACTIVE_NOT_RECRUITING	Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
NCT02786147	Not specified	COMPLETED	Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer
NCT02956681	Not specified	COMPLETED	Statewide Communication to Reach Diverse Low Income Women
NCT03015376	Not specified	UNKNOWN	Inherited Susceptible Genes Among Epithelial Ovarian Cancer
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition