CAMSAP2 - calmodulin regulated spectrin associated protein family member 2 Gene

Also Known as CAMSAP1L1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23271

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	References	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	References	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	References	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

CH

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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	CAMSAP2	NCBI