CLN3 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CLN3 (HGNC:2074) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CLN3 lysosomal/endosomal transmembrane protein, battenin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- BTS
- Alias symbols
- JNCL, BTN1
- %HI
- 55(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.02(Read more about gnomAD LOEUF score)
- Cytoband
- 16p12.1
- Genomic Coordinates
-
GRCh37/hg19: chr16:28477974-28503403 NCBI Ensembl UCSC GRCh38/hg38: chr16:28466653-28492082 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001042432.2 ENST00000636147.2 (Read more about MANE Select)
- Function
- Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor- mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission (PubMed:10924275, PubMed:18817525, PubMed:18317235, PubMed:22261744, PubMed:15471887, PubMed:20850431). Facilitates the... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24797
ClinGen Curation ID:
CCID:006880
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- neuronal ceroid lipofuscinosis 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)