Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56926
Gene name Gene Name - the full gene name approved by the HGNC.
Nicalin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NCLN
Synonyms (NCBI Gene) Gene synonyms aliases
NET59
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519322 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051553 hsa-let-7e-5p CLASH 23622248
MIRT043508 hsa-miR-331-3p CLASH 23622248
MIRT039945 hsa-miR-615-3p CLASH 23622248
MIRT039162 hsa-miR-769-5p CLASH 23622248
MIRT039162 hsa-miR-769-5p PAR-CLIP 27292025
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003140 Process Determination of left/right asymmetry in lateral mesoderm ISS
GO:0005515 Function Protein binding IPI 17261586, 20538592, 25416956, 32814053, 32820719, 33961781, 35271311
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 20538592
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609156 26923 ENSG00000125912
Protein
UniProt ID Q969V3
Protein name BOS complex subunit NCLN (Nicalin) (Nicastrin-like protein)
Protein function Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following me
PDB 6W6L , 9C7U , 9C7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04389 Peptidase_M28 201 421 Peptidase family M28 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas and skeletal muscle and, at lower levels, in heart. {ECO:0000269|PubMed:15257293}.
Sequence
MLEEAGEVLENMLKASCLPLGFIVFLPAVLLLVAPPLPAADAAHEFTVYRMQQYDLQGQP
YGTRNAVLNTEARTMAAEVLSRRCVLMRLLDFSYEQYQKALRQSAGAVVIILPRAMAAVP
QDVVRQFMEIEPEMLAMETAVPVYFAVEDEALLSIYKQTQAASASQGSASAAEVLLRTAT
ANGFQMVTSGVQSKAVSDWLIASVEGRLTGLGGEDLPTIVIVAHYDAFGVAPWLSLGADS
NGSGVSVLLELARLFSRLYTYKRTHAAYNLLFFASGGGKFNYQGTKRWLEDNLDHTDSSL
LQDNVAFVLCLDTVGRGSSLHLHVSKPPREGTLQHAFLRELETVAAHQFPEVRFSMVHKR
INLAEDVLAWEHERFAIRRLPAFTLSHLESHRDGQRSSIMDVRSRVDSKTLTRNTRIIAE
A
LTRVIYNLTEKGTPPDMPVFTEQMQIQQEQLDSVMDWLTNQPRAAQLVDKDSTFLSTLE
HHLSRYLKDVKQHHVKADKRDPEFVFYDQLKQVMNAYRVKPAVFDLLLAVGIAAYLGMAY
VAVQHFSLLYKTVQRLLVKAKTQ
Sequence length 563
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 rs1057519322 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS