Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EIF4H Gene

Aliases for EIF4H Gene

  • Eukaryotic Translation Initiation Factor 4H 2 3 3 5
  • Williams-Beuren Syndrome Chromosome Region 1 2 3
  • WBSCR1 3 4
  • EIF-4H 3 4
  • WSCR1 3 4
  • Williams-Beuren Syndrome Chromosomal Region 1 Protein 4
  • KIAA0038 4

External Ids for EIF4H Gene

Previous HGNC Symbols for EIF4H Gene

  • WBSCR1

Previous GeneCards Identifiers for EIF4H Gene

  • GC07P073227
  • GC07P073588
  • GC07P069470

Summaries for EIF4H Gene

Entrez Gene Summary for EIF4H Gene

  • 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 deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for EIF4H Gene

EIF4H (Eukaryotic Translation Initiation Factor 4H) is a Protein Coding gene. Diseases associated with EIF4H include Williams-Beuren Syndrome. Among its related pathways are Translation Factors and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is EIF4B.

UniProtKB/Swiss-Prot for EIF4H Gene

  • Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Gene Wiki entry for EIF4H Gene

Additional gene information for EIF4H Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF4H Gene

Genomics for EIF4H Gene

GeneHancer (GH) Regulatory Elements for EIF4H Gene

Promoters and enhancers for EIF4H Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J074171 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 655.3 +0.6 603 6 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B EIF4H GC07M074172 POM121B LIMK1 RFC2 TBL2 MIR590 NSUN5 ABHD11-AS1 FKBP6
GH07J074208 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.3 +36.7 36720 4.5 HDAC1 HDGF SMAD1 RB1 ARNT BATF KLF5 IRF4 ZNF48 ZNF207 LAT2 EIF4H RFC2 LIMK1 GC07P074231
GH07J074214 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.7 +42.6 42622 4 PTBP1 PKNOX1 SMAD1 RB1 STAT5A BMI1 YBX1 KLF5 IRF4 ZNF143 LAT2 EIF4H GC07P074231
GH07J075153 Enhancer 1 Ensembl ENCODE 5.5 +981.8 981815 4.5 HDAC1 ELF3 SAP130 ARID4B ZBTB40 E4F1 RARA TEAD3 ZNF335 CTBP1 TRIM73 EIF4H NCF1C GC07P075127
GH07J074166 Enhancer 0.4 ENCODE 4.7 -6.7 -6707 1.2 ZNF121 KLF1 KLF4 GC07P074167 LIMK1 EIF4H GC07P074132
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF4H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF4H gene promoter:
  • GR-beta
  • GR-alpha
  • GR
  • E2F-1
  • E2F
  • MEF-2A
  • aMEF-2
  • YY1
  • Roaz
  • TGIF

Genomic Locations for EIF4H Gene

Genomic Locations for EIF4H Gene
22,857 bases
Plus strand
22,857 bases
Plus strand

Genomic View for EIF4H Gene

Genes around EIF4H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF4H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF4H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF4H Gene

Proteins for EIF4H Gene

  • Protein details for EIF4H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Eukaryotic translation initiation factor 4H
    Protein Accession:
    Secondary Accessions:
    • A8K3R1
    • D3DXF6
    • D3DXF8

    Protein attributes for EIF4H Gene

    248 amino acids
    Molecular mass:
    27385 Da
    Quaternary structure:
    • Interacts with HHV-1 Vhs.
    • Sequence=BAA05063.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EIF4H Gene


neXtProt entry for EIF4H Gene

Post-translational modifications for EIF4H Gene

  • Ubiquitination at Lys245
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF4H Gene

Antibody Products

  • Abcam antibodies for EIF4H
  • Boster Bio Antibodies for EIF4H
  • Santa Cruz Biotechnology (SCBT) Antibodies for EIF4H

No data available for DME Specific Peptides for EIF4H Gene

Domains & Families for EIF4H Gene

Gene Families for EIF4H Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EIF4H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EIF4H: view

No data available for UniProtKB/Swiss-Prot for EIF4H Gene

Function for EIF4H Gene

Molecular function for EIF4H Gene

UniProtKB/Swiss-Prot Function:
Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Gene Ontology (GO) - Molecular Function for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,TAS 22658674
GO:0003743 translation initiation factor activity TAS,IBA --
GO:0004386 helicase activity TAS --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EIF4H: view
genes like me logo Genes that share phenotypes with EIF4H: view

Animal Model Products

miRNA for EIF4H Gene

miRTarBase miRNAs that target EIF4H

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF4H Gene

Localization for EIF4H Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF4H Gene

Cytoplasm, perinuclear region.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIF4H gene
Compartment Confidence
cytosol 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005844 polysome IBA --
GO:0016020 membrane HDA 19946888
GO:0016281 eukaryotic translation initiation factor 4F complex TAS 9516461
genes like me logo Genes that share ontologies with EIF4H: view

Pathways & Interactions for EIF4H Gene

genes like me logo Genes that share pathways with EIF4H: view

Gene Ontology (GO) - Biological Process for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001731 formation of translation preinitiation complex IBA --
GO:0002181 cytoplasmic translation IBA --
GO:0006412 translation IEA --
GO:0006413 translational initiation TAS --
GO:0006446 regulation of translational initiation TAS 9516461
genes like me logo Genes that share ontologies with EIF4H: view

No data available for SIGNOR curated interactions for EIF4H Gene

Drugs & Compounds for EIF4H Gene

(1) Drugs for EIF4H Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EIF4H: view

Transcripts for EIF4H Gene

mRNA/cDNA for EIF4H Gene

Unigene Clusters for EIF4H Gene

Eukaryotic translation initiation factor 4H:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EIF4H Gene

No ASD Table

Relevant External Links for EIF4H Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EIF4H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF4H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF4H Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.6) and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF4H Gene

Protein tissue co-expression partners for EIF4H Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF4H Gene:


SOURCE GeneReport for Unigene cluster for EIF4H Gene:


mRNA Expression by UniProt/SwissProt for EIF4H Gene:

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 cortex and kidney.

Evidence on tissue expression from TISSUES for EIF4H Gene

  • Nervous system(4.9)
  • Muscle(4.6)
  • Bone marrow(4.4)
  • Liver(4.4)
  • Blood(4.3)
  • Lung(4.2)
  • Skin(4.2)
  • Eye(4.1)
  • Pancreas(3.5)
  • Intestine(3.4)
  • Kidney(2.4)
  • Heart(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with EIF4H: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF4H Gene

Orthologs for EIF4H Gene

This gene was present in the common ancestor of animals.

Orthologs for EIF4H Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EIF4H 34 33
  • 99.73 (n)
(Bos Taurus)
Mammalia WBSCR1 34
  • 99 (a)
EIF4H 33
  • 93.57 (n)
(Canis familiaris)
Mammalia EIF4H 34 33
  • 94.15 (n)
(Mus musculus)
Mammalia Eif4h 16 34 33
  • 91.26 (n)
(Rattus norvegicus)
Mammalia Eif4h 33
  • 90.73 (n)
(Ornithorhynchus anatinus)
Mammalia oan-mir-590 34
  • 86 (a)
(Monodelphis domestica)
Mammalia EIF4H 34
  • 57 (a)
(Gallus gallus)
Aves EIF4H 34
  • 87 (a)
LOC100859865 33
  • 82.51 (n)
(Anolis carolinensis)
Reptilia EIF4H 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia eif4h 33
  • 74.45 (n)
Str.6613 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68480 33
(Danio rerio)
Actinopterygii eif4h 34 33
  • 71.13 (n)
Dr.7659 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4178 33
fruit fly
(Drosophila melanogaster)
Insecta Rbp2 34
  • 27 (a)
CG1340 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8871 34
  • 18 (a)
Species where no ortholog for EIF4H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EIF4H Gene

Gene Tree for EIF4H (if available)
Gene Tree for EIF4H (if available)
Evolutionary constrained regions (ECRs) for EIF4H: view image

Paralogs for EIF4H Gene

Paralogs for EIF4H Gene

(2) SIMAP similar genes for EIF4H Gene using alignment to 1 proteins:

  • IF4H_HUMAN Pseudogenes for EIF4H Gene

genes like me logo Genes that share paralogs with EIF4H: view

Variants for EIF4H Gene

Sequence variations from dbSNP and Humsavar for EIF4H Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000329975 -- 74,174,741(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000615236 -- 74,175,858(+) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000680264 -- 74,174,618(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000813234 -- 74,180,643(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000867435 -- 74,180,315(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EIF4H Gene

Variant ID Type Subtype PubMed ID
esv3576379 CNV gain 25503493
esv3613698 CNV loss 21293372
esv3613703 CNV loss 21293372
nsv464563 CNV gain 19166990
nsv607480 CNV gain 21841781
nsv607481 CNV loss 21841781
nsv831030 CNV gain 17160897

Variation tolerance for EIF4H Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF4H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF4H Gene

Disorders for EIF4H Gene

MalaCards: The human disease database

(1) MalaCards diseases for EIF4H Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards
Search EIF4H in MalaCards View complete list of genes associated with diseases


  • Note=EIF4H is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of EIF4H may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269 PubMed:8812460}.

Additional Disease Information for EIF4H

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EIF4H: view

No data available for Genatlas for EIF4H Gene

Publications for EIF4H Gene

  1. Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H. (PMID: 9516461) Richter-Cook NJ … Merrick WC (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F. (PMID: 11418588) Rogers GW … Merrick WC (The Journal of biological chemistry 2001) 3 4 22 58
  3. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. (PMID: 11003705) Martindale DW … Koop BF (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 3 4 22 58
  4. Further biochemical and kinetic characterization of human eukaryotic initiation factor 4H. (PMID: 10585411) Richter NJ … Merrick WC (The Journal of biological chemistry 1999) 3 4 22 58
  5. Detecting rare variants for complex traits using family and unrelated data. (PMID: 19847924) Zhu X … Elston RC (Genetic epidemiology 2010) 3 44 58

Products for EIF4H Gene

Sources for EIF4H Gene

Loading form....