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Gene Gene information from NCBI Gene database.
Entrez ID 57168
Gene name Aspartate beta-hydroxylase domain containing 2
Gene symbol ASPHD2
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q12.1
miRNA miRNA information provided by mirtarbase database.
125 Show/Hide all (125)
miRTarBase ID miRNA Experiments Reference
MIRT803163 hsa-miR-1226 CLIP-seq
MIRT803164 hsa-miR-1227 CLIP-seq
MIRT803165 hsa-miR-1286 CLIP-seq
MIRT803166 hsa-miR-2116 CLIP-seq
MIRT803167 hsa-miR-27a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6 Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0016020 Component Membrane HDA 19946888
GO:0016020 Component Membrane IEA
GO:0016491 Function Oxidoreductase activity IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ICH7
Protein name Aspartate beta-hydroxylase domain-containing protein 2 (EC 1.14.11.-)
Protein function May function as 2-oxoglutarate-dependent dioxygenase.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05118 Asp_Arg_Hydrox 192 → 351 Aspartyl/Asparaginyl beta-hydroxylase Domain
Sequence
MVWAPLGPPRTDCLTLLHTPSKDSPKMSLEWLVAWSWSLDGLRDCIATGIQSVRDCDTTA
VITVACLLVLFVWYCYHVGREQPRPYVSVNSLMQAADANGLQNGYVYCQSPECVRCTHNE
GLNQKLYHNLQEYAKRYSWSGMGRIHKGIREQGRYLNSRPSIQKPEVFFLPDLPTTPYFS
RDAQKHDVEVLERNFQTILCEFETLYKAFSNCSLPQGWKMNSTPSGEWFTFYLVNQGVCV
PRNCRKCPRTYRLLGSLRTCIGNNVFGNACISVLSPGTVITEHYGPTNIRIRCHLGLKTP
NGCELVVGGEPQCWAEGRCLLFDDSFLHAAFHEGSAEDGPRVVFMVDLWHP
NVAAAERQA
LDFIFAPGR
Sequence length 369
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Cervical cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations