Gene Gene information from NCBI Gene database.
Entrez ID 342538
Gene name Nascent polypeptide associated complex subunit alpha 2
Gene symbol NACA2
Synonyms (NCBI Gene)
ANACNACAL
Chromosome 17
Chromosome location 17q23.2
miRNA miRNA information provided by mirtarbase database.
33
miRTarBase ID miRNA Experiments Reference
MIRT562892 hsa-miR-3606-3p PAR-CLIP 20371350
MIRT562891 hsa-miR-513a-3p PAR-CLIP 20371350
MIRT562890 hsa-miR-513c-3p PAR-CLIP 20371350
MIRT562889 hsa-miR-101-3p PAR-CLIP 20371350
MIRT562887 hsa-miR-607 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005854 Component Nascent polypeptide-associated complex IEA
GO:0006612 Process Protein targeting to membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609274 23290 ENSG00000253506
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H009
Protein name Nascent polypeptide-associated complex subunit alpha-2 (Alpha-NAC-like) (Hom s 2.01) (Nascent polypeptide-associated complex subunit alpha-like) (NAC-alpha-like)
Protein function Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01849 NAC 73 129 NAC domain Family
PF19026 HYPK_UBA 174 214 HYPK UBA domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed specifically in testis and skeletal muscle. {ECO:0000269|PubMed:16201836}.
Sequence
MPGEATETVPATEQELPQSQAETGSGTASDSGESVPGIEEQDSTQTTTQKAWLVAAAEID
EEPVGKAKQSRSEKRARKAMSKLGLLQVTGVTRVTIWKSKNILFVITKLDVYKSPASDAY
IVFGEAKIQ
DLSQQAQLAAAEKFRVQGEAVGNIQENTQTPTVQEESEEEEVDETGVEVKD
VKLVMSQANVSRAKAVRALKNNSNDIVNAIMELT
V
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Parathyroid hormone synthesis, secretion and action  
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
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE 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
Clubfoot Clubfoot Pubtator 22678995 Associate
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot BEFREE 22678995
★☆☆☆☆
Found in Text Mining only
nervous system disorder Nervous System Disorder BEFREE 27699474
★☆☆☆☆
Found in Text Mining only