CLN6 (CLN6 transmembrane ER protein)

2014-11-01  

Identity

HGNC
CLN6
LOCATION
15q23
LOCUSID
54982
ALIAS
CLN4A,HsT18960,nclf
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383822302024Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.0
383822302024Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.0
350126002022Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.3
350126002022Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.3
343809212021CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.2
345976872021p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.1
343809212021CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.2
345976872021p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.1
321715212020Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses.2
325978332020A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.25
321715212020Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses.2
325978332020A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.25
305288832019Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.7
305615342019Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.15
319010392019[Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene].0

Citation

Dessen P

CLN6 (CLN6 transmembrane ER protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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