GeneBe

CAMSAP2

protein-coding

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

Gene summary

Enables microtubule minus-end binding activity. Involved in several processes, including regulation of Golgi organization; regulation of dendrite development; and regulation of microtubule polymerization. Located in Golgi apparatus; centrosome; and microtubule minus-end. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:
  • CAMSAP1L1

MANE transcript

NM_203459.4

Inheritance

—

ClinVar variants

U:163B:4

Top phenotype

Premature ovarian insufficiency

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr1:200,738,893-200,860,707

External References & Databases

Ensembl (ENSG00000118200)NCBI Gene (23271)OMIM (613775)HGNC:29188GenCCUniProt (Q08AD1)AlphaFoldClinVar (CAMSAP2)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~121.8 kb
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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CAMSAP2 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 149
not providedTotal: 4
Premature ovarian insufficiencyTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_203459.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
6
clinvar
1
clinvar
 7
missense
153
clinvar
2
clinvar
1
clinvar
 156
nonsense
2
clinvar
 2
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total0016331167
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_203459.4RefSeqNP_982284.117MANE Select
ENST00000358823.7EnsemblENSP00000351684.217MANE Select
NM_001297707.3RefSeqNP_001284636.118Standard
NM_001297708.3RefSeqNP_001284637.117Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
camsap2bDanio rerio

Structure: vascular lymphangioblast

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • microtubule cytoskeleton organization
  • negative regulation of microtubule depolymerization
  • regulation of microtubule polymerization
  • cytoplasmic microtubule organization
  • regulation of organelle organization

Molecular Function

  • protein binding
  • calmodulin binding
  • spectrin binding
  • microtubule minus-end binding

Cellular Component

  • Golgi apparatus
  • centrosome
  • cytosol
  • microtubule minus-end
  • microtubule end

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000358823
Coding exons
17
Length
121147
Individuals with no LoFs
125734
Homozygous LoFs
0
Heterozygous LoFs
11
Defined
125745
p
0.0000437
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.705597700.7260.00003969760
Missense (PolyPhen)170290.110.585993695
Synonymous2.102232670.8360.00001352762
Loss of Function6.65764.70.1080.00000348829

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American0.0000290.000029rare
Ashkenazi Jewish00.0absent
East Asian0.0000550.000054rare
Finnish00.0absent
European (Non-Finnish)0.0000630.000062rare
South Asian0.0000720.000065rare
Other00.0absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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