Gene Gene information from NCBI Gene database.
Entrez ID 57003
Gene name Coiled-coil domain containing 47
Gene symbol CCDC47
Synonyms (NCBI Gene)
GK001MSTP041THNS
Chromosome 17
Chromosome location 17q23.3
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs749027804 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs750123815 A>- Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant
rs1269750663 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs1568246398 A>- Likely-pathogenic, pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
439
miRTarBase ID miRNA Experiments Reference
MIRT024703 hsa-miR-215-5p Microarray 19074876
MIRT026099 hsa-miR-196a-5p Sequencing 20371350
MIRT026510 hsa-miR-192-5p Microarray 19074876
MIRT051015 hsa-miR-17-5p CLASH 23622248
MIRT050615 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003723 Function RNA binding HDA 22658674
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 21903422, 32814053, 32814900, 32820719, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618260 24856 ENSG00000108588
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96A33
Protein name PAT complex subunit CCDC47 (Calumin) (Coiled-coil domain-containing protein 47)
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:32814900, PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 comp
PDB 6W6L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07946 DUF1682 135 467 Protein of unknown function (DUF1682) Family
Sequence
Sequence length 483
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair Likely pathogenic; Pathogenic rs1269750663, rs1568246398, rs750123815, rs749027804 RCV000754581
RCV000754582
RCV000754584
RCV000754583
Trichohepatoneurodevelopmental syndrome Likely pathogenic; Pathogenic rs763844532, rs1319907329, rs1269750663, rs1568246398, rs750123815, rs749027804, rs765103846 RCV002052260
RCV002267566
RCV000735842
RCV000735841
RCV000735839
RCV000735840
RCV001283854
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs16947066 RCV005904965
CCDC47-related disorder Uncertain significance; Benign; Likely benign rs2039206079, rs36034985, rs111830704, rs34332702, rs372450501, rs16947066 RCV003399551
RCV003893582
RCV003941944
RCV003917397
RCV003951480
RCV003933256
Thymoma Benign rs16947066 RCV005904966
Uterine corpus endometrial carcinoma Benign rs16947066 RCV005904967
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Choroid Plexus Neoplasms Associate 33249490
Papilloma Choroid Plexus Associate 33249490