Human Gene EIF2B2 (ENST00000266126.10_4) from GENCODE V47lift37

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Description: eukaryotic translation initiation factor 2B subunit beta (from RefSeq NM_014239.4)
Gencode Transcript: ENST00000266126.10_4
Gencode Gene: ENSG00000119718.11_14
Transcript (Including UTRs)
Position: hg19 chr14:75,469,624-75,479,069 Size: 9,446 Total Exon Count: 8 Strand: +
Coding Region
Position: hg19 chr14:75,469,694-75,475,891 Size: 6,198 Coding Exon Count: 8

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	GeneReviews	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr14:75,469,624-75,479,069)			mRNA (may differ from genome)		Protein (351 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: EIF2B2 Diseases sorted by gene-association score: leukoencephalopathy with vanishing white matter* (789), childhood ataxia with central nervous system hypomyelination/vanishing white matter* (200), eif2b2-related childhood ataxia with central nervous system hypomyelination/vanishing white matter* (100), leukodystrophy (12), early-onset familial alzheimer disease (6), cerebral degeneration (5) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C023514 2,6-dinitrotoluene C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl C016403 2,4-dinitrotoluene C009505 4,4'-diaminodiphenylmethane C035207 4-amino-2,6-dinitrotoluene D000082 Acetaminophen D000643 Ammonium Chloride D019256 Cadmium Chloride D004147 Dioxins D005472 Fluorouracil more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 28.11 RPKM in Thyroid Total median expression: 694.28 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-18.50	70	-0.264	Picture	PostScript	Text
3' UTR	-971.90	3178	-0.306	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR000649 - IF-2B-related

Pfam Domains:
PF01008 - Initiation factor 2 subunit family

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
100950 - NagB/RpiA/CoA transferase-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q53XC2


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	Genome Browser
Gene Details	Gene Details		Gene Details	Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase	SGD
				Protein Sequence	Protein Sequence
				Alignment	Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0003743 translation initiation factor activity GO:0005515 protein binding Biological Process: GO:0006413 translational initiation GO:0044237 cellular metabolic process

Descriptions from all associated GenBank mRNAs


	LF209603 - JP 2014500723-A/17106: Polycomb-Associated Non-Coding RNAs. BX161473 - human full-length cDNA clone CS0DI071YM04 of Placenta of Homo sapiens (human). BC000494 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa, mRNA (cDNA clone MGC:8399 IMAGE:2820668), complete cds. BC003165 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa, mRNA (cDNA clone MGC:4323 IMAGE:2820668), complete cds. AF035280 - Homo sapiens clone 23689 mRNA, complete cds. BC011750 - Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa, mRNA (cDNA clone MGC:19714 IMAGE:3534548), complete cds. CU680040 - Synthetic construct Homo sapiens gateway clone IMAGE:100019055 5' read EIF2B2 mRNA. DQ891364 - Synthetic construct clone IMAGE:100003994; FLH176252.01X; RZPDo839B03122D eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2) gene, encodes complete protein. DQ894544 - Synthetic construct Homo sapiens clone IMAGE:100009004; FLH176248.01L; RZPDo839B03121D eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2) gene, encodes complete protein. KJ892649 - Synthetic construct Homo sapiens clone ccsbBroadEn_02043 EIF2B2 gene, encodes complete protein. KJ897932 - Synthetic construct Homo sapiens clone ccsbBroadEn_07326 EIF2B2 gene, encodes complete protein. KR710396 - Synthetic construct Homo sapiens clone CCSBHm_00012139 EIF2B2 (EIF2B2) mRNA, encodes complete protein. KR710397 - Synthetic construct Homo sapiens clone CCSBHm_00012143 EIF2B2 (EIF2B2) mRNA, encodes complete protein. KR710398 - Synthetic construct Homo sapiens clone CCSBHm_00012144 EIF2B2 (EIF2B2) mRNA, encodes complete protein. KR710399 - Synthetic construct Homo sapiens clone CCSBHm_00012149 EIF2B2 (EIF2B2) mRNA, encodes complete protein. L40395 - Homo sapiens (clone S20iii15) mRNA, 3' end of cds. LF330098 - JP 2014500723-A/137601: Polycomb-Associated Non-Coding RNAs. LF330099 - JP 2014500723-A/137602: Polycomb-Associated Non-Coding RNAs. LF330100 - JP 2014500723-A/137603: Polycomb-Associated Non-Coding RNAs. LF330101 - JP 2014500723-A/137604: Polycomb-Associated Non-Coding RNAs. JD396376 - Sequence 377400 from Patent EP1572962. JD363642 - Sequence 344666 from Patent EP1572962. JD185736 - Sequence 166760 from Patent EP1572962. JD429317 - Sequence 410341 from Patent EP1572962. JD437922 - Sequence 418946 from Patent EP1572962. JD370280 - Sequence 351304 from Patent EP1572962. JD102046 - Sequence 83070 from Patent EP1572962. JD432489 - Sequence 413513 from Patent EP1572962. MA565675 - JP 2018138019-A/137601: Polycomb-Associated Non-Coding RNAs. MA565676 - JP 2018138019-A/137602: Polycomb-Associated Non-Coding RNAs. MA565677 - JP 2018138019-A/137603: Polycomb-Associated Non-Coding RNAs. MA565678 - JP 2018138019-A/137604: Polycomb-Associated Non-Coding RNAs. MA445180 - JP 2018138019-A/17106: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	BioCarta from NCI Cancer Genome Anatomy Project h_vegfPathway - VEGF, Hypoxia, and Angiogenesis

Other Names for This Gene


	Alternate Gene Symbols: EIF2B2 , ENST00000266126.1, ENST00000266126.2, ENST00000266126.3, ENST00000266126.4, ENST00000266126.5, ENST00000266126.6, ENST00000266126.7, ENST00000266126.8, ENST00000266126.9, hCG_22350 , NM_014239, Q53XC2, Q53XC2_HUMAN, uc317igo.1, uc317igo.2 UCSC ID: ENST00000266126.10_4 RefSeq Accession: NM_014239.4 Protein: Q53XC2

GeneReviews for This Gene


	GeneReviews article(s) related to gene EIF2B2: cach (Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter)

Gene Model Information


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Methods, Credits, and Use Restrictions


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