Aliases for EIF4H Gene
Aliases for EIF4H Gene
External Ids for EIF4H Gene
- HGNC: 12741
- Entrez Gene: 7458
- Ensembl: ENSG00000106682
- OMIM: 603431
- UniProtKB: Q15056
Previous HGNC Symbols for EIF4H Gene
- WBSCR1
Previous GeneCards Identifiers for EIF4H Gene
- GC07P073227
- GC07P073588
- GC07P069470
Summaries 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 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. 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.
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 Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH07I074171 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 555.3 | +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 | |
| GH07I074208 | 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 | |
| GH07I074214 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 8.7 | +42.6 | 42622 | 4 | PKNOX1 SMAD1 RB1 BMI1 YBX1 KLF5 IRF4 ZNF143 ATF7 ETV6 | LAT2 EIF4H GC07P074231 | |
| GH07I075153 | 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 | |
| GH07I074166 | 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 dump
GeneHancers around EIF4H on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for EIF4H Gene
Genomic Locations for EIF4H Gene
- chr7:74,174,245-74,197,101
- (GRCh38/hg38)
- Size:
- 22,857 bases
- Orientation:
- Plus strand
- chr7:73,588,575-73,611,431
- (GRCh37/hg19)
Genomic View for EIF4H Gene
Genes around EIF4H on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by Ensembl
- 7q11.23 by Entrez Gene
- 7q11.23 by HGNC
EIF4H Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EIF4H Gene
Proteins for EIF4H Gene
-
Protein details for EIF4H Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15056-IF4H_HUMAN
- Recommended name:
- Eukaryotic translation initiation factor 4H
- Protein Accession:
- Q15056
- A8K3R1
- D3DXF6
- D3DXF8
Protein attributes for EIF4H Gene
- Size:
- 248 amino acids
- Molecular mass:
- 27385 Da
- Quaternary structure:
-
- Interacts with HHV-1 Vhs.
- SequenceCaution:
-
- Sequence=BAA05063.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for EIF4H Gene
Post-translational modifications for EIF4H Gene
- Ubiquitination at Lys245
Other Protein References for EIF4H Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for EIF4H (EIF4H)
-
Custom Antibody ServicesOriGene Antibodies for EIF4H
- Novus Biologicals Antibodies for EIF4H
-
Abcam antibodies for EIF4H
-
Cloud-Clone Corp. Antibodies for EIF4H
- Invitrogen Antibodies for EIF4H
- GeneTex EIF4H antibody for EIF4H
-
Santa Cruz Biotechnology (SCBT) Antibodies for EIF4H
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for EIF4H
- Origene Custom Protein Services for EIF4H
- ProSpec Recombinant Proteins for EIF4H
-
Cloud-Clone Corp. Proteins for EIF4H
- Search GeneTex for Proteins for EIF4H
-
Abcam proteins for EIF4H
Assay Products
No data available for DME Specific Peptides for EIF4H Gene
Domains & Families for EIF4H Gene
Gene Families for EIF4H Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for EIF4H Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for EIF4H Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | TAS,HDA | 22658674 |
| GO:0003743 | translation initiation factor activity | IBA,TAS | -- |
| GO:0004386 | helicase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for EIF4H Gene
- MGI mutant phenotypes for EIF4H:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EIF4H:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for EIF4H gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF4H gene
- Search ViGene Biosciences for EIF4H
CRISPR Products
-
OriGene CRISPR knockouts for EIF4H
- genomics-online: gRNA clones - Search results for 136 available EIF4H gene related products
- Overview of 136 available EIF4H gene related products
- Applied Biological Materials CRISPR for EIF4H
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF4H
- GenScript: Design CRISPR guide RNA sequences for EIF4H
miRNA for EIF4H Gene
- miRTarBase miRNAs that target EIF4H
-
- hsa-mir-24-3p (MIRT030493)
- hsa-mir-941 (MIRT036572)
- hsa-mir-93-3p (MIRT038863)
- hsa-mir-378a-3p (MIRT043929)
- hsa-mir-185-5p (MIRT045348)
- hsa-mir-149-5p (MIRT045559)
- hsa-mir-10a-5p (MIRT047639)
- hsa-mir-197-3p (MIRT048050)
- hsa-mir-17-5p (MIRT222672)
- hsa-mir-20a-5p (MIRT222673)
- hsa-mir-93-5p (MIRT222674)
- hsa-mir-106a-5p (MIRT222675)
- hsa-mir-106b-5p (MIRT222676)
- hsa-mir-20b-5p (MIRT222677)
- hsa-mir-526b-3p (MIRT222678)
- hsa-mir-519d-3p (MIRT222679)
- hsa-mir-651-3p (MIRT222680)
- hsa-mir-1252-3p (MIRT222681)
- hsa-mir-5093 (MIRT222683)
- hsa-mir-503-5p (MIRT321164)
- hsa-mir-1252-5p (MIRT321165)
- hsa-mir-2110 (MIRT321166)
- hsa-mir-4271 (MIRT321168)
- hsa-mir-4725-3p (MIRT321169)
- hsa-mir-6828-5p (MIRT321171)
- hsa-mir-6780b-5p (MIRT321172)
- hsa-mir-370-5p (MIRT362853)
- hsa-mir-452-3p (MIRT362854)
- hsa-mir-4709-3p (MIRT362858)
- hsa-mir-3611 (MIRT477520)
- hsa-mir-8080 (MIRT477521)
- hsa-mir-4699-5p (MIRT523923)
- hsa-mir-4766-5p (MIRT523924)
- hsa-mir-5092 (MIRT523925)
- hsa-mir-562 (MIRT523926)
- hsa-mir-4422 (MIRT523927)
- hsa-mir-374a-3p (MIRT537767)
- hsa-mir-4777-5p (MIRT537768)
- hsa-mir-526a (MIRT537769)
- hsa-mir-523-5p (MIRT537770)
- hsa-mir-522-5p (MIRT537771)
- hsa-mir-520c-5p (MIRT537772)
- hsa-mir-519c-5p (MIRT537773)
- hsa-mir-519b-5p (MIRT537774)
- hsa-mir-519a-5p (MIRT537775)
- hsa-mir-518f-5p (MIRT537776)
- hsa-mir-518e-5p (MIRT537777)
- hsa-mir-518d-5p (MIRT537778)
- hsa-mir-4305 (MIRT537779)
- hsa-mir-10b-3p (MIRT537780)
- hsa-mir-4796-3p (MIRT537781)
- hsa-mir-548ah-5p (MIRT537782)
- hsa-mir-3609 (MIRT537783)
- hsa-mir-1245b-5p (MIRT736363)
- hsa-mir-134-3p (MIRT737498)
- hsa-mir-148b-5p (MIRT737688)
- hsa-mir-194-5p (MIRT738606)
- hsa-mir-3142 (MIRT740203)
- hsa-mir-3190-3p (MIRT740954)
- hsa-mir-3202 (MIRT741139)
- hsa-mir-3660 (MIRT741982)
- hsa-mir-3691-5p (MIRT742522)
- hsa-mir-376b-5p (MIRT742649)
- hsa-mir-376c-5p (MIRT742655)
- hsa-mir-3919 (MIRT742945)
- hsa-mir-4306 (MIRT743895)
- hsa-mir-4312 (MIRT743958)
- hsa-mir-4330 (MIRT744121)
- hsa-mir-4428 (MIRT744303)
- hsa-mir-4476 (MIRT745035)
- hsa-mir-4526 (MIRT745943)
- hsa-mir-4533 (MIRT746006)
- hsa-mir-4644 (MIRT746367)
- hsa-mir-4649-3p (MIRT746479)
- hsa-mir-4663 (MIRT746712)
- hsa-mir-4752 (MIRT748341)
- hsa-mir-5008-5p (MIRT749442)
- hsa-mir-552-3p (MIRT750877)
- hsa-mir-6089 (MIRT751952)
- hsa-mir-628-5p (MIRT752632)
- hsa-mir-6874-3p (MIRT758091)
- hsa-mir-6876-5p (MIRT758145)
- hsa-mir-7114-5p (MIRT759140)
- hsa-mir-7160-5p (MIRT759314)
- hsa-mir-8056 (MIRT760026)
- hsa-mir-8077 (MIRT760137)
- hsa-mir-196a-3p (MIRT763495)
- hsa-mir-328-5p (MIRT765617)
- hsa-mir-4742-5p (MIRT771887)
- hsa-mir-625-5p (MIRT776112)
- hsa-mir-6757-5p (MIRT778416)
- hsa-mir-6768-5p (MIRT778573)
- hsa-mir-6795-5p (MIRT779348)
- hsa-mir-6885-5p (MIRT781060)
- hsa-mir-6887-5p (MIRT781071)
- hsa-mir-7109-5p (MIRT781426)
- hsa-mir-8485 (MIRT782447)
miRNA Products
- Search ViGene Biosciences for EIF4H
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EIF4H
- Browse OriGene Inhibitory RNA Products For EIF4H
- genomics-online: shRNA clones - Search results for 136 available EIF4H gene related products
- Overview of 136 available EIF4H gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF4H gene
Clone Products
- Sino Biological Human cDNA Clone for EIF4H
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for EIF4H
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
-
Cloud-CloneCorp. cDNA clones for EIF4H
- Browse primers at Cloud-Clone Corp.
Cell Line Products
-
Horizon Cell Lines for EIF4H
-
ViGene Biosciences adenoviral particle packaged cDNA for EIF4H gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EIF4H gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF4H gene
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
- Cytosol (2)
- Nuclear bodies (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005844 | polysome | IBA | -- |
| GO:0016020 | membrane | HDA,IDA | 19946888 |
| GO:0016281 | eukaryotic translation initiation factor 4F complex | TAS | 9516461 |
Pathways & Interactions for EIF4H Gene
Pathways by source for EIF4H Gene
1 Cell Signaling Technology pathway for EIF4H Gene
1 BioSystems pathway for EIF4H Gene
10 Reactome pathways for EIF4H Gene
2 GeneGo (Thomson Reuters) pathways for EIF4H Gene
Interacting Proteins for EIF4H Gene
Selected Interacting proteins:
ENSP00000265753
Q15056-IF4H_HUMAN
for EIF4H Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001731 | formation of translation preinitiation complex | IBA | -- |
| GO:0006412 | translation | IEA | -- |
| GO:0006413 | translational initiation | TAS | -- |
| GO:0006446 | regulation of translational initiation | TAS | 9516461 |
| GO:0016032 | viral process | IEA | -- |
No data available for SIGNOR curated interactions for EIF4H Gene
Transcripts for EIF4H Gene
mRNA/cDNA for EIF4H Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (1504) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EIF4H Gene
CRISPR Products
-
OriGene CRISPR knockouts for EIF4H
- genomics-online: gRNA clones - Search results for 136 available EIF4H gene related products
- Overview of 136 available EIF4H gene related products
- Applied Biological Materials CRISPR for EIF4H
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF4H
- GenScript: Design CRISPR guide RNA sequences for EIF4H
miRNA Products
- Search ViGene Biosciences for EIF4H
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EIF4H
- Browse OriGene Inhibitory RNA Products For EIF4H
- genomics-online: shRNA clones - Search results for 136 available EIF4H gene related products
- Overview of 136 available EIF4H gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF4H gene
Clone Products
- Sino Biological Human cDNA Clone for EIF4H
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for EIF4H
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
-
Cloud-CloneCorp. cDNA clones for EIF4H
- Browse primers at Cloud-Clone Corp.
Expression for EIF4H Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Pancreas (Endocrine System)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
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, PaxDb, MaxQB, and MOPED for EIF4H Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of EIF4H Gene:
EIF4HSOURCE GeneReport for Unigene cluster for EIF4H Gene:
Hs.520943mRNA Expression by UniProt/SwissProt for EIF4H Gene:
Q15056-IF4H_HUMAN
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)
Primer Products
-
OriGene qPCR primer pairs for EIF4H
-
OriGene qPCR primer pairs and template standards for EIF4H
- genomics-online: primer clones - Search results for 136 available EIF4H gene related products
- Overview of 136 available EIF4H gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EIF4H 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | WBSCR1 34 |
|
OneToOne | |
| EIF4H 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | EIF4H 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Eif4h 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eif4h 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | oan-mir-590 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | EIF4H 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EIF4H 34 |
|
OneToOne | |
| LOC100859865 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | EIF4H 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eif4h 33 |
|
||
| Str.6613 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68480 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | eif4h 33 34 |
|
||
| Dr.7659 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4178 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Rbp2 34 |
|
OneToMany | |
| CG1340 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8871 34 |
|
OneToOne |
- 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)
Paralogs for EIF4H Gene
(2) SIMAP similar genes for EIF4H Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for EIF4H Gene
Variants 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 |
| 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 |
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
- EIF4H
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF4H Gene
Disorders for EIF4H Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| williams-beuren syndrome |
|
|
Search EIF4H in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IF4H_HUMAN- 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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for EIF4H Gene
Publications for EIF4H Gene
- 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
- 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
- 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
- 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
- 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
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- antibodies-online: Search results for 68 available EIF4H Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for EIF4H
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- genomics-online: cdna clones - Search results for 136 available EIF4H gene related products
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Sources for EIF4H Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
- (69) OCA
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