NCDN - neurochondrin Gene

Homo sapiens

Also known as NEDIES

Gene ID: 23154 | Gene type: protein coding

About NCDN

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:35,557,799-35,566,779 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues and is associated with 4 phenotypes. Biased expression in brain (RPKM 97.7), adrenal (RPKM 7.8) and 6 other tissues.

Summary

This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates CA/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]

NCDN Products(3)

mRNA	Protein	Name
NM_001014839.2	NP_001014839.1	neurochondrin isoform 1
NM_001014841.2	NP_001014841.1	neurochondrin isoform 2
NM_014284.3	NP_055099.1	neurochondrin isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	23687301	GOA
located in membrane	IDA IDA: Inferred from direct assay	23687301	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NCDN Protein Structure

Neurochondrin

0
200
400
600
729 a.a.

Protein Preferred Names

Protein Names

neurochondrin

norbin

NCDN Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NCDN	Q9UBB6	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	32296183
Intra	NCDN	Q9UBB6	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	25416956
Intra	NCDN	Q9UBB6	EFHC2	Homo sapiens	Q5JST6	Y2H Array	32296183
Intra	NCDN	Q9UBB6	KRT75	Homo sapiens	O95678	Y2H Prey Pooling	32296183
Intra	NCDN	Q9UBB6	KRT75	Homo sapiens	O95678	Y2H Array	32296183
Intra	NCDN	Q9UBB6	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	NCDN	Q9UBB6	ZBED1	Homo sapiens	O96006	Y2H Array	32296183
Intra	NCDN	Q9UBB6	ZBED1	Homo sapiens	O96006	Y2H Prey Pooling	32296183
Intra	NCDN	Q9UBB6	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	NCDN	Q9UBB6	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	NCDN	Q9UBB6	ZNF398	Homo sapiens	Q8TD17	Y2H Prey Pooling	32296183
Intra	NCDN	Q9UBB6	ZNF398	Homo sapiens	Q8TD17	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Infantile Epileptic Spasms

NEDIES

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Autoimmune Neuropathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09075	NCDN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NCDN	VGNC	VGNC:31910
Felis catus	NCDN	VGNC	VGNC:63737
Macaca mulatta	NCDN	VGNC	VGNC:74980
Canis familiaris	NCDN	VGNC	VGNC:43648
Mus musculus	NCDN	MGD	MGI:1347351
Rattus norvegicus	NCDN	RGD	RGD:621734

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