CAMSAP2

calmodulin regulated spectrin associated protein family member 2, the group of CAMSAP family

Basic information

Region (hg38): 1:200738892-200860704

Previous symbols: [ "CAMSAP1L1" ]

Links

ENSG00000118200 ∙ NCBI:23271 ∙ OMIM:613775 ∙ HGNC:29188 ∙ Uniprot:Q08AD1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAMSAP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMSAP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			51		1	52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	51	0	1

Variants in CAMSAP2

This is a list of pathogenic ClinVar variants found in the CAMSAP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-200739888-C-A		not specified	Uncertain significance (Mar 06, 2023)
1-200739897-C-T		not specified	Uncertain significance (Oct 18, 2021)
1-200739931-A-G		not specified	Uncertain significance (Apr 25, 2022)
1-200739936-G-T		not specified	Uncertain significance (Jun 29, 2023)
1-200739945-G-A		not specified	Uncertain significance (Feb 06, 2023)
1-200739961-G-A		not specified	Uncertain significance (May 04, 2022)
1-200760946-C-T		not specified	Uncertain significance (Aug 02, 2022)
1-200760971-G-A		not specified	Uncertain significance (Dec 20, 2021)
1-200761042-A-G		not specified	Uncertain significance (Nov 07, 2023)
1-200807382-C-T		not specified	Uncertain significance (Jul 07, 2022)
1-200807412-G-A		not specified	Uncertain significance (Feb 12, 2024)
1-200807455-G-T		not specified	Uncertain significance (May 14, 2024)
1-200815634-G-C		not specified	Uncertain significance (Mar 27, 2023)
1-200832323-G-A		not specified	Uncertain significance (Feb 02, 2022)
1-200832721-A-C		not specified	Uncertain significance (Dec 17, 2021)
1-200844800-T-A		not specified	Uncertain significance (Mar 18, 2024)
1-200844827-C-T		not specified	Uncertain significance (Jul 09, 2021)
1-200847220-G-T		not specified	Uncertain significance (Apr 07, 2022)
1-200848111-A-G		not specified	Uncertain significance (Jan 26, 2023)
1-200848117-C-T		not specified	Uncertain significance (Sep 01, 2021)
1-200848493-T-C		not specified	Uncertain significance (Sep 06, 2022)
1-200848559-G-A		not specified	Uncertain significance (Apr 20, 2023)
1-200848630-G-A		not specified	Uncertain significance (Jan 31, 2023)
1-200848637-T-C		Premature ovarian insufficiency	Uncertain significance (Jan 10, 2018)
1-200848663-T-G		not specified	Uncertain significance (Apr 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMSAP2	protein_coding	protein_coding	ENST00000358823	17	121147

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000564	125734	0	11	125745	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.70	559	770	0.726	0.0000396	9760
Missense in Polyphen		170	290.11	0.58599		3695
Synonymous	2.10	223	267	0.836	0.0000135	2762
Loss of Function	6.65	7	64.7	0.108	0.00000348	829

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000551	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000631	0.0000615
Middle Eastern	0.0000551	0.0000544
South Asian	0.0000724	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242). {ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:24908486, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28726242}.
• Disease: DISEASE: Note=Defects in CAMSAP2 may be a cause of susceptibility to epilepsy in the Chinese population. {ECO:0000305|PubMed:22116939}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.68

Haploinsufficiency Scores

• pHI: 0.200
• hipred: Y
• hipred_score: 0.673
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Camsap2

Zebrafish Information Network

• Gene name: camsap2b
• Affected structure: vascular lymphangioblast
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: microtubule cytoskeleton organization;negative regulation of microtubule depolymerization;regulation of microtubule polymerization;cytoplasmic microtubule organization;regulation of organelle organization;regulation of dendrite development;axon development;regulation of Golgi organization
• Cellular component: Golgi apparatus;centrosome;cytosol;microtubule minus-end;microtubule end
• Molecular function: protein binding;calmodulin binding;spectrin binding;microtubule minus-end binding