Gene Gene information from NCBI Gene database.
Entrez ID 54830
Gene name Nucleoporin 62 C-terminal like
Gene symbol NUP62CL
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq22.3
Summary This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT018851 hsa-miR-335-5p Microarray 18185580
MIRT1199822 hsa-miR-101 CLIP-seq
MIRT1199823 hsa-miR-1224-5p CLIP-seq
MIRT1199824 hsa-miR-1231 CLIP-seq
MIRT1199825 hsa-miR-1238 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 26871637, 31515488, 32296183, 33961781
GO:0005635 Component Nuclear envelope IEA
GO:0005643 Component Nuclear pore IEA
GO:0006913 Process Nucleocytoplasmic transport IEA
GO:0015031 Process Protein transport 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.
Q9H1M0
Protein name Nucleoporin-62 C-terminal-like protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05064 Nsp1_C 57 173 Nsp1-like C-terminal region Family
Sequence
Sequence length 184
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 Evidence Score
PANCREATITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations