Gene Gene information from NCBI Gene database.
Entrez ID 55218
Gene name Exonuclease 3'-5' domain containing 2
Gene symbol EXD2
Synonyms (NCBI Gene)
C14orf114EXDL2
Chromosome 14
Chromosome location 14q24.1
miRNA miRNA information provided by mirtarbase database.
333
miRTarBase ID miRNA Experiments Reference
MIRT018552 hsa-miR-335-5p Microarray 18185580
MIRT027148 hsa-miR-103a-3p Sequencing 20371350
MIRT031912 hsa-miR-16-5p Sequencing 20371350
MIRT444861 hsa-miR-548ac PAR-CLIP 22100165
MIRT444860 hsa-miR-548bb-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IDA 31127291
GO:0000175 Function 3'-5'-RNA exonuclease activity IEA
GO:0000287 Function Magnesium ion binding IDA 31127291
GO:0000724 Process Double-strand break repair via homologous recombination IDA 26807646
GO:0000729 Process DNA double-strand break processing IDA 26807646
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616940 20217 ENSG00000081177
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVH0
Protein name Exonuclease 3'-5' domain-containing protein 2 (EC 3.1.11.1) (3'-5' exoribonuclease EXD2) (EC 3.1.13.-) (Exonuclease 3'-5' domain-like-containing protein 2)
Protein function Exonuclease that has both 3'-5' exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor (PubMed:29335528, PubMed:31127291). In presence of Mg(2+), only shows 3'-5' exoribonuclease activity, wh
PDB 6K17 , 6K18 , 6K19 , 6K1A , 6K1B , 6K1C , 6K1D , 6K1E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01612 DNA_pol_A_exo1 79 259 Domain
Sequence
MSRQNLVALTVTTLLGVAVGGFVLWKGIQRRRRSKTSPVTQQPQQKVLGSRELPPPEDDQ
LHSSAPRSSWKERILKAKVVTVSQEAEWDQIEPLLRSELEDFPVLGIDCEWVNLEGKASP
LSLLQMASPSGLCVLVRLPKLICGGKTLPRTLLDILADGTILKVGVGCSEDASKLLQDYG
LVVRGCLDLRYLAMRQRNNLLCNGLSLKSLAETVLNFPLDKSLLLRCSNWDAETLTEDQV
IYAARDAQISVALFLHLLG
YPFSRNSPGEKNDDHSSWRKVLEKCQGVVDIPFRSKGMSRL
GEEVNGEATESQQKPRNKKSKMDGMVPGNHQGRDPRKHKRKPLGVGYSARKSPLYDNCFL
HAPDGQPLCTCDRRKAQWYLDKGIGELVSEEPFVVKLRFEPAGRPESPGDYYLMVKENLC
VVCGKRDSYIRKNVIPHEYRKHFPIEMKDHNSHDVLLLCTSCHAISNYYDNHLKQQLAKE
FQAPIGSEEGLRLLEDPERRQVRSGARALLNAESLPTQRKEELLQALREFYNTDVVTEEM
LQEAASLETRISNENYVPHGLKVVQCHSQGGLRSLMQLESRWRQHFLDSMQPKHLPQQWS
VDHNHQKLLRKFGEDLPIQLS
Sequence length 621
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 Evidence Score
HYPERALDOSTERONISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
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
Major Depressive Disorder Mental Depression GWASCAT_DG 29942085
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mood Disorders Mood Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only