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)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
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)