CAMK2N2

calcium/calmodulin dependent protein kinase II inhibitor 2

Basic information

Region (hg38): 3:184259212-184261553

Links

ENSG00000163888

∙ NCBI:94032 ∙ OMIM:608721 ∙ HGNC:24197 ∙ Uniprot:Q96S95 ∙ 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 CAMK2N2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMK2N2 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			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in CAMK2N2

This is a list of pathogenic ClinVar variants found in the CAMK2N2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-184261182-G-T		not specified	Uncertain significance (May 05, 2023)	2544664
3-184261264-T-C		not specified	Uncertain significance (Nov 22, 2023)	3136797

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMK2N2	protein_coding	protein_coding	ENST00000296238	2	2251

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.220	0.658	122212	0	1	122213	0.00000409

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.569	34	44.7	0.761	0.00000198	505
Missense in Polyphen		7	13.443	0.52071		130
Synonymous	0.591	16	19.3	0.829	9.11e-7	154
Loss of Function	1.08	1	3.04	0.329	1.33e-7	28

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000920	0.00000920
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Potent and specific cellular inhibitor of CaM-kinase II (CAMK2). Traps Ca(2+)/calmodulin on CAMK2. May play an important role in the regulation of cell growth when overexpressed in colon adenocarcinoma LoVo cells. Traps Ca(2+)/calmodulin on CAMK2. {ECO:0000269|PubMed:11444830}.;

Intolerance Scores

loftool: 0.317
rvis_EVS: 0.12
rvis_percentile_EVS: 62.38

Haploinsufficiency Scores

pHI: 0.343
hipred: Y
hipred_score: 0.538
ghis: 0.551

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.119

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Camk2n2
Phenotype

Gene ontology

Biological process: negative regulation of protein kinase activity
Cellular component: nucleus;centrosome;cytosol
Molecular function: calcium-dependent protein kinase inhibitor activity;protein kinase binding