CLN6 (CLN6 transmembrane ER protein)

2014-11-01  

Identity

HGNC
LOCATION
15q23
LOCUSID
ALIAS
CLN4A,HsT18960,nclf
FUSION GENES

Other Information

Locus ID:

NCBI: 54982
MIM: 606725
HGNC: 2077
Ensembl: ENSG00000128973

Variants:

dbSNP: 54982
ClinVar: 54982
TCGA: ENSG00000128973
COSMIC: CLN6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128973ENST00000249806Q9NWW5
ENSG00000128973ENST00000249806A0A024R601
ENSG00000128973ENST00000538696Q9NWW5
ENSG00000128973ENST00000564752H3BUV4
ENSG00000128973ENST00000565471H3BTY4
ENSG00000128973ENST00000566347H3BUT1
ENSG00000128973ENST00000567060H3BNF1
ENSG00000128973ENST00000635747A0A1B0GVR8
ENSG00000128973ENST00000636212A0A1B0GTV3
ENSG00000128973ENST00000636314A0A1B0GUY3
ENSG00000128973ENST00000636876A0A1B0GU39
ENSG00000128973ENST00000637223A0A1B0GVR8
ENSG00000128973ENST00000637329A0A1B0GTD3
ENSG00000128973ENST00000637450A0A1B0GUQ7
ENSG00000128973ENST00000637494A0A1B0GUD2
ENSG00000128973ENST00000637667A0A1B0GTU6
ENSG00000128973ENST00000637823A0A1B0GU90
ENSG00000128973ENST00000638076A0A0S2Z5D0

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117272012002The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.42
117912072002Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.41
215493412011Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.35
152656882004CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.31
150104532004Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.26
192017632009Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.24
213591982011Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.20
191350282009Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.15
174534152007Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.13
128155912003Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.11

Citation

Dessen P

CLN6 (CLN6 transmembrane ER protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61895/cln6