Gene Gene information from NCBI Gene database.
Entrez ID 7458
Gene name Eukaryotic translation initiation factor 4H
Gene symbol EIF4H
Synonyms (NCBI Gene)
WBSCR1WSCR1eIF-4H
Chromosome 7
Chromosome location 7q11.23
Summary This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the d
miRNA miRNA information provided by mirtarbase database.
873
miRTarBase ID miRNA Experiments Reference
MIRT030493 hsa-miR-24-3p Microarray 19748357
MIRT048050 hsa-miR-197-3p CLASH 23622248
MIRT047639 hsa-miR-10a-5p CLASH 23622248
MIRT047639 hsa-miR-10a-5p CLASH 23622248
MIRT045559 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001731 Process Formation of translation preinitiation complex IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 8812460
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603431 12741 ENSG00000106682
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15056
Protein name Eukaryotic translation initiation factor 4H (eIF-4H) (Williams-Beuren syndrome chromosomal region 1 protein)
Protein function Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 44 112 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow. Levels are high in lung and pancreas and low in heart, frontal
Sequence
MADFDTYDDRAYSSFGGGRGSRGSAGGHGSRSQKELPTEPPYTAYVGNLPFNTVQGDIDA
IFKDLSIRSVRLVRDKDTDKFKGFCYVEFDEVDSLKEALTYDGALLGDRSLR
VDIAEGRK
QDKGGFGFRKGGPDDRGMGSSRESRGGWDSRDDFNSGFRDDFLGGRGGSRPGDRRTGPPM
GSRFRDGPPLRGSNMDFREPTEEERAQRPRLQLKPRTVATPLNQVANPNSAIFGGARPRE
EVVQKEQE
Sequence length 248
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    L13a-mediated translational silencing of Ceruloplasmin expression
Translation initiation complex formation
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MYOSITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autism Spectrum Disorder Associate 33208191
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 40489916
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 8812460
★☆☆☆☆
Found in Text Mining only
Infections Associate 37803001
★☆☆☆☆
Found in Text Mining only
Williams Syndrome Associate 33208191, 8812460
★★☆☆☆
Found in Text Mining + Unknown/Other Associations