Gene Gene information from NCBI Gene database.
Entrez ID 11231
Gene name SEC63 protein translocation regulator
Gene symbol SEC63
Synonyms (NCBI Gene)
DNAJC23ERdj2PCLD2PRO2507SEC63L
Chromosome 6
Chromosome location 6q21
Summary 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.
10
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.
703
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001889 Process Liver development IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 21251912, 26871637
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608648 21082 ENSG00000025796
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant polycystic liver disease Pathogenic; Likely pathogenic rs1787750092, rs2114458613, rs1011931149, rs2114454119, rs2114453997, rs768615942, rs779331877, rs2114434218, rs2114476431, rs2114406531, rs2114476499, rs2114476485, rs1403483213, rs1787002281, rs749842172
View all (9 more)
RCV005361587
RCV001844876
RCV001844886
RCV001844892
RCV001844905
View all (19 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Biliary tract abnormality Likely pathogenic; Pathogenic rs768568123 RCV005622119
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic liver disease 1 Likely pathogenic; Pathogenic rs869312977, rs869312978 RCV000210666
RCV000210741
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic liver disease 2 Pathogenic; Likely pathogenic rs2114446923, rs768615942, rs1403483213, rs768568123, rs2114403750, rs755795110, rs773300876, rs1787039042, rs119103233, rs886041027, rs886041028, rs2482059146, rs752868449, rs1323035335, rs869312977
View all (5 more)
RCV001353245
RCV002477879
RCV003992538
RCV002471134
RCV002488454
View all (15 more)
★★★★★
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
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign ClinVar
★★☆☆☆
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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37122003 Associate
★☆☆☆☆
Found in Text Mining only
Gastroesophageal reflux disease Gastroesophageal Reflux Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer Colorectal Cancer BEFREE 23537056
★☆☆☆☆
Found in Text Mining only
Isolated polycystic liver disease Polycystic liver disease BEFREE 20408955, 24506938, 26365003
★☆☆☆☆
Found in Text Mining only
Isolated polycystic liver disease Polycystic liver disease Orphanet
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Cystic Kidney disease Pubtator 36573973 Associate
★☆☆☆☆
Found in Text Mining only
Liver cyst Liver Cyst BEFREE 16835903, 22864019, 23668934, 30652979
★☆☆☆☆
Found in Text Mining only
Liver cyst Liver Cyst HPO_DG
★☆☆☆☆
Found in Text Mining only
Liver Failure Liver failure Pubtator 23209713 Associate
★☆☆☆☆
Found in Text Mining only
Lynch Syndrome Lynch Syndrome BEFREE 23537056
★☆☆☆☆
Found in Text Mining only