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DNAJC13 |
Gene Facts External Data Attribution
- HGNC Symbol
- DNAJC13 (HGNC:30343) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- DnaJ heat shock protein family (Hsp40) member C13
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- RME8, KIAA0678
- %HI
- 15.74(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.27(Read more about gnomAD LOEUF score)
- Cytoband
- 3q22.1
- Genomic Coordinates
-
GRCh37/hg19: chr3:132136346-132257876 NCBI Ensembl UCSC GRCh38/hg38: chr3:132417502-132539032 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015268.4 ENST00000260818.11 (Read more about MANE Select)
- Function
- Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates the dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5893
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)
