NCDN (neurochondrin)

2014-11-01 Affiliation

Identity

HGNC

NCDN

LOCATION

1p34.3

LOCUSID

23154

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23154
MIM: 608458
HGNC: 17597
Ensembl: ENSG00000020129

Variants:

dbSNP: 23154
ClinVar: 23154
TCGA: ENSG00000020129
COSMIC: NCDN

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000020129	ENST00000356090	Q9UBB6
ENSG00000020129	ENST00000373243	Q9UBB6
ENSG00000020129	ENST00000373253	Q9UBB6
ENSG00000020129	ENST00000423723	H7C2R2
ENSG00000020129	ENST00000437806	C9J5H8

Expression (GTEx)

100

200

300

400

500

600

700

800

900

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

References

Pubmed ID	Year	Title	Citations
33711248	2021	Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.	8
33711248	2021	Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.	8
29070854	2017	Altered Norbin Expression in Patients with Epilepsy and a Rat Model.	8
29070854	2017	Altered Norbin Expression in Patients with Epilepsy and a Rat Model.	8
25916936	2015	Neurochondrin is an atypical RIIα-specific A-kinase anchoring protein.	7
26048293	2015	Metabotropic glutamate receptor 5, and its trafficking molecules Norbin and Tamalin, are increased in the CA1 hippocampal region of subjects with schizophrenia.	15
25916936	2015	Neurochondrin is an atypical RIIα-specific A-kinase anchoring protein.	7
26048293	2015	Metabotropic glutamate receptor 5, and its trafficking molecules Norbin and Tamalin, are increased in the CA1 hippocampal region of subjects with schizophrenia.	15
23687301	2013	In silico screening for palmitoyl substrates reveals a role for DHHC1/3/10 (zDHHC1/3/11)-mediated neurochondrin palmitoylation in its targeting to Rab5-positive endosomes.	23
23687301	2013	In silico screening for palmitoyl substrates reveals a role for DHHC1/3/10 (zDHHC1/3/11)-mediated neurochondrin palmitoylation in its targeting to Rab5-positive endosomes.	23
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
15790563	2005	Neurochondrin negatively regulates CaMKII phosphorylation, and nervous system-specific gene disruption results in epileptic seizure.	26
15790563	2005	Neurochondrin negatively regulates CaMKII phosphorylation, and nervous system-specific gene disruption results in epileptic seizure.	26

Citation

Dessen P

NCDN (neurochondrin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70734