Gene: Eif2b3

Basic information

Tag Content
Uniprot ID B1AUN2
Entrez ID 108067
Genbank protein ID
Genbank nucleotide ID NM_001111277.1
Ensembl protein ID ENSMUSP00000102056
Ensembl nucleotide ID ENSMUSG00000028683
Gene name Eukaryotic translation initiation factor 2B, subunit 3
Gene symbol Eif2b3
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MEFQAVVMAV GGGSRMTDLT SSIPKPLLPV GNKPLIWYPL NLLERVGFEE VIVVTTKDVQ 60
KALCAEFKMK MKLDIVCIPD EADMGTADSL RHIYPKLKTD VLVLSCDLIT DVALHEVVDL 120
FRAYDASLAM LMRKGQESIE PVPGQKGKKK PVEQRDFIGV DSTGKRLLFM ANEADLDEEL 180
VIKGSILQKH PRIHFHTGLV DAHLYCLKKY VVDFLMENRS ITSIRSELIP YLVRKQFSSA 240
SSQQRQEDKE EDLKKKELKS LDIYSFIKKD DTLTLAPYDA CWNAFRGDKW EDLSRSQVRC 300
YVHIMKEGLC SRVSTLGLYM EANRQVPKLL SVLCPEESMI HSSAQIVNKH LIGADSLIGP 360
DTQIGEKSSI KHSVIGSSCV IRDRTSITNC LLMNSVTVEE GSSIHGSVIC NNAVIETGAE 420
IKNCLVGSGQ RIEAKAKRMN EVIVGNDQLM EI 452

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEIF2B3475379E2RBJ1Canis lupus familiarisPredictionMore>>
1:1 orthologEIF2B3102187733A0A452ERT4Capra hircusPredictionMore>>
1:1 orthologEIF2B3100065686F6V4Y8Equus caballusPredictionMore>>
1:1 orthologEIF2B38891Q9NR50Homo sapiensPublicationMore>>
1:1 orthologEif2b3108067B1AUN2Mus musculusPredictionMore>>
1:1 orthologEIF2B3H2R941Pan troglodytesPredictionMore>>
1:1 orthologEIF2B3100348406G1T3H5Oryctolagus cuniculusPredictionMore>>
1:1 orthologEif2b3171145P70541Rattus norvegicusPredictionMore>>
1:1 orthologeif2b3394049Q7ZTY5Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
EIF2B3c.1130G>A; p.S377LWES and Sanger sequencing26449438

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-72613 Eukaryotic Translation InitiationIEA
R-MMU-72731 Recycling of eIF2:GDPIEA
R-MMU-72737 Cap-dependent Translation InitiationIEA
R-MMU-72766 TranslationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR005835 NTP_transferase_dom
IPR029044 Nucleotide-diphossugar_trans

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF00483 NTP_transferase

Protein-miRNA interaction