CAMSAP2 - calmodulin regulated spectrin associated protein family member 2 Gene

Homo sapiens

Also known as CAMSAP1L1

Gene ID: 23271 | Gene type: protein coding

About CAMSAP2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:200,738,893-200,860,704 (from NCBI)

This gene has 6 transcripts (splice variants), 277 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues.

Summary

Enables microtubule minus-end binding activity. Involved in several processes, including axon development; regulation of dendrite development; and regulation of organelle organization. Located in cytosol and microtubule end. Colocalizes with Golgi apparatus; centrosome; and microtubule minus-end. [provided by Alliance of Genome Resources, Apr 2022]

CAMSAP2 Products(4)

mRNA	Protein	Name
NM_001297707.3	NP_001284636.1	calmodulin-regulated spectrin-associated protein 2 isoform 1
NM_001297708.3	NP_001284637.1	calmodulin-regulated spectrin-associated protein 2 isoform 3
NM_001389638.1	NP_001376567.1	calmodulin-regulated spectrin-associated protein 2 isoform 4
NM_203459.4	NP_982284.1	calmodulin-regulated spectrin-associated protein 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables microtubule minus-end binding	IDA IDA: Inferred from direct assay	23169647	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20195357	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in axon development	IDA IDA: Inferred from direct assay	24908486	GOA
involved in microtubule cytoskeleton organization	IDA IDA: Inferred from direct assay	24486153	GOA
involved in microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	23169647	GOA
involved in regulation of Golgi organization	IDA IDA: Inferred from direct assay	27666745	GOA
involved in regulation of dendrite development	IDA IDA: Inferred from direct assay	24908486	GOA
involved in regulation of microtubule polymerization	IDA IDA: Inferred from direct assay	24486153	GOA
involved in regulation of organelle organization	IMP IMP: Inferred from mutant phenotype	23169647	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with Golgi apparatus	IDA IDA: Inferred from direct assay	27666745	GOA
colocalizes with centrosome	IDA IDA: Inferred from direct assay	23169647	GOA
colocalizes with microtubule minus-end	IDA IDA: Inferred from direct assay	24486153	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

CAMSAP2 Protein Structure

CAMSAP_CKK

0
300
600
900
1200
1489 a.a.

Protein Preferred Names

Protein Names

calmodulin-regulated spectrin-associated protein 2

calmodulin-regulated spectrin-associated protein 1-like protein 1

CAMSAP2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CAMSAP2	Q08AD1	EEF1D	Homo sapiens	P29692	TAP	20195357

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

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-RS01872	CAMSAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CAMSAP2	VGNC	VGNC:70666
Canis familiaris	CAMSAP2	VGNC	VGNC:38690
Rattus norvegicus	CAMSAP2	RGD	RGD:1310950
Felis catus	CAMSAP2	VGNC	VGNC:60342
Mus musculus	CAMSAP2	MGD	MGI:1922434
Bos taurus	CAMSAP2	VGNC	VGNC:58365

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