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Gene Gene information from NCBI Gene database.
Entrez ID 1939
Gene name Eukaryotic translation initiation factor 2D
Gene symbol EIF2D
Synonyms (NCBI Gene)
HCA56LGTN
Chromosome 1
Chromosome location 1q32.1
Summary This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to locali
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19 Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0001731 Process Formation of translation preinitiation complex IBA
GO:0001731 Process Formation of translation preinitiation complex IDA 20713520
GO:0001731 Process Formation of translation preinitiation complex IEA
GO:0003723 Function RNA binding IEA
GO:0003743 Function Translation initiation factor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613709 6583 ENSG00000143486
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41214
Protein name Eukaryotic translation initiation factor 2D (eIF2d) (Hepatocellular carcinoma-associated antigen 56) (Ligatin)
Protein function Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situati
PDB 5OA3 , 5OA9 , 5W2F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01253 SUI1 487 → 567 Translation initiation factor SUI1 Domain
PF17832 Pre-PUA 2 → 90 Pre-PUA-like domain Domain
Sequence
MFAKAFRVKSNTAIKGSDRRKLRADVTTAFPTLGTDQVSELVPGKEELNIVKLYAHKGDA
VTVYVSGGNPILFELEKNLYPTVYTLWSYP
DLLPTFTTWPLVLEKLVGGADLMLPGLVMP
PAGLPQVQKGDLCAISLVGNRAPVAIGVAAMSTAEMLTSGLKGRGFSVLHTYQDHLWRSG
NKSSPPSIAPLALDSADLSEEKGSVQMDSTLQGDMRHMTLEGEEENGEVHQAREDKSLSE
APEDTSTRGLNQDSTDSKTLQEQMDELLQQCFLHALKCRVKKADLPLLTSTFLGSHMFSC
CPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEP
SPTSQTIQEGSREQPYHPPDIKPLYCVPASMTLLFQESGHKKGSFLEGSEVRTIVINYAK
KNDLVDADNKNLVRLDPILCDCILEKNEQHTVMKLPWDSLLTRCLEKLQPAYQVTLPGQE
PIVKKGRICPIDITLAQRASNKKVTVVRNLEAYGLDPYSVAAILQQRCQASTTVNPAPGA
KDSLQVQIQGNQVHHLGWLLLEEYQLP
RKHIQGLEKALKPGKKK
Sequence length 584
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Malignant tumor of urinary bladder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 37354922 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 30958601
★★★★★
★☆☆☆☆
Found in Text Mining only
Glaucoma, Primary Open Angle Glaucoma BEFREE 30958601
★★★★★
★☆☆☆☆
Found in Text Mining only
Primary angle-closure glaucoma Angle closure glaucoma BEFREE 30958601
★★★★★
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 31078689
★★★★★
★☆☆☆☆
Found in Text Mining only