Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11231
Gene name Gene Name - the full gene name approved by the HGNC.
SEC63 protein translocation regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEC63
Synonyms (NCBI Gene) Gene synonyms aliases
DNAJC23, ERdj2, PCLD2, PRO2507, SEC63L
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PCLD2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs119103233 C>T Pathogenic 5 prime UTR variant, stop gained, coding sequence variant
rs727504146 G>- Pathogenic 5 prime UTR variant, frameshift variant, coding sequence variant
rs752018806 TTC>- Conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, inframe deletion
rs752868449 T>-,TT Pathogenic Coding sequence variant, frameshift variant
rs766716921 ->A,AA,AAA,AAAA,AAAAA Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026665 hsa-miR-192-5p Microarray 19074876
MIRT030915 hsa-miR-21-5p Microarray 18591254
MIRT051342 hsa-miR-15a-5p CLASH 23622248
MIRT038691 hsa-miR-30c-2-3p CLASH 23622248
MIRT038508 hsa-miR-296-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001889 Process Liver development IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 21251912, 26871637
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608648 21082 ENSG00000025796
Protein
UniProt ID Q9UGP8
Protein name Translocation protein SEC63 homolog (DnaJ homolog subfamily C member 23)
Protein function Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apol
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 104 162 DnaJ domain Domain
PF02889 Sec63 222 500 Sec63 Brl domain Family
PF02889 Sec63 611 713 Sec63 Brl domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with high levels in the liver. {ECO:0000269|PubMed:15133510}.
Sequence
MAGQQFQYDDSGNTFFYFLTSFVGLIVIPATYYLWPRDQNAEQIRLKNIRKVYGRCMWYR
LRLLKPQPNIIPTVKKIVLLAGWALFLFLAYKVSKTDREYQEYNPYEVLNLDPGATVAEI
KKQYRLLSLKYHPDKGGDEVMFMRIAKAYAALTDEESRKNWE
EFGNPDGPQATSFGIALP
AWIVDQKNSILVLLVYGLAFMVILPVVVGSWWYRSIRYSGDQILIRTTQIYTYFVYKTRN
MDMKRLIMVLAGASEFDPQYNKDATSRPTDNILIPQLIREIGSINLKKNEPPLTCPYSLK
ARVLLLSHLARMKIPETLEEDQQFMLKKCPALLQEMVNVICQLIVMARNREEREFRAPTL
ASLENCMKLSQMAVQGLQQFKSPLLQLPHIEEDNLRRVSNHKKYKIKTIQDLVSLKESDR
HTLLHFLEDEKYEEVMAVLGSFPYVTMDIKSQVLDDEDSNNITVGSLVTVLVKLTRQTMA
EVFEKEQSICAAEEQPAEDG
QGETNKNRTKGGWQQKSKGPKKTAKSKKKKPLKKKPTPVL
LPQSKQQKQKQANGVVGNEAAVKEDEEEVSDKGSDSEEEETNRDSQSEKDDGSDRDSDRE
QDEKQNKDDEAEWQELQQSIQRKERALLETKSKITHPVYSLYFPEEKQEWWWLYIADRKE
QTLISMPYHVCTLKDTEEVELKFPAPGKPGNYQYTVFLRSDSYMGLDQIKPLK
LEVHEAK
PVPENHPQWDTAIEGDEDQEDSEGFEDSFEEEEEEEEDDD
Sequence length 760
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Protein export
Protein processing in endoplasmic reticulum
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Polycystic liver disease Isolated polycystic liver disease, Polycystic liver disease, POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS rs137852944, rs137852949, rs398124483, rs200391019, rs786204696, rs773136605, rs781368899, rs376161880, rs774759689, rs762811727, rs1210158408, rs1565088616, rs1565092566, rs1565092899, rs1565093675
View all (11 more)
21685914, 24886261, 15133510
Polycystic kidney disease Polycystic Kidney Diseases, Polycystic Kidney, Type 1 Autosomal Dominant Disease rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096
View all (740 more)
21685914
Unknown
Disease term Disease name Evidence References Source
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 37122003
Kidney Diseases Cystic Associate 36573973
Liver Failure Associate 23209713
Neointima Associate 23209713
Neoplasm Invasiveness Inhibit 24887297
Neoplasm Metastasis Associate 37122003
Neoplasms Associate 37122003
Polycystic Kidney Autosomal Dominant Associate 30135240
Polycystic liver disease Associate 18587325, 23326178, 24706814, 27259053, 27552964, 30135240, 38101549
Retinitis Pigmentosa Associate 19878916