CAMKMT

calmodulin-lysine N-methyltransferase, the group of 7BS protein lysine methyltransferases

Basic information

Region (hg38): 2:44361946-44772592

Previous symbols: [ "C2orf34" ]

Links

ENSG00000143919 ∙ NCBI:79823 ∙ OMIM:609559 ∙ HGNC:26276 ∙ Uniprot:Q7Z624 ∙ 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 CAMKMT gene.

• Inborn genetic diseases (19 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMKMT 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				2	1	3
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	1

Variants in CAMKMT

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

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

Position	Type	Phenotype	Significance	ClinVar
2-44362026-G-C		not specified	Uncertain significance (Dec 18, 2023)
2-44362036-C-T		not specified	Uncertain significance (Feb 13, 2023)
2-44362038-G-A		not specified	Uncertain significance (Aug 19, 2023)
2-44362053-G-A		not specified	Uncertain significance (Jun 28, 2022)
2-44362101-G-A		not specified	Uncertain significance (Jul 06, 2021)
2-44362111-C-G		not specified	Uncertain significance (Dec 16, 2023)
2-44362125-C-G		not specified	Uncertain significance (Feb 12, 2024)
2-44372753-A-T		not specified	Uncertain significance (Dec 21, 2022)
2-44390243-A-G		not specified	Uncertain significance (Dec 21, 2022)
2-44390245-A-C		not specified	Uncertain significance (Feb 10, 2022)
2-44390272-G-T		not specified	Uncertain significance (Jun 24, 2022)
2-44704291-C-T		not specified	Uncertain significance (Aug 02, 2021)
2-44706336-C-T		not specified	Uncertain significance (Sep 17, 2021)
2-44707420-A-G		not specified	Uncertain significance (Jul 27, 2022)
2-44715289-G-T		not specified	Uncertain significance (Jun 29, 2023)
2-44715294-A-T		not specified	Uncertain significance (Oct 29, 2021)
2-44715305-C-T		not specified	Uncertain significance (Oct 16, 2023)
2-44715325-G-A		not specified	Uncertain significance (Aug 05, 2023)
2-44743630-G-A		not specified	Uncertain significance (Oct 06, 2022)
2-44743647-G-T		not specified	Uncertain significance (Jan 04, 2022)
2-44743648-A-G		not specified	Uncertain significance (Nov 14, 2023)
2-44754080-A-G		not specified	Uncertain significance (Dec 21, 2022)
2-44766438-G-A			Likely benign (Dec 31, 2019)
2-44766464-A-G		not specified	Uncertain significance (Feb 16, 2023)
2-44766466-A-G		not specified	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMKMT	protein_coding	protein_coding	ENST00000378494	11	410643

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.38e-15	0.00634	125694	0	53	125747	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.137	165	160	1.03	0.00000768	2090
Missense in Polyphen		30	35.97	0.83404		464
Synonymous	0.368	56	59.6	0.939	0.00000286	611
Loss of Function	-0.286	22	20.6	1.07	0.00000115	237

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000425	0.000424
Ashkenazi Jewish	0.00	0.00
East Asian	0.000545	0.000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.000545	0.000544
South Asian	0.000235	0.000229
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the trimethylation of 'Lys-116' in calmodulin. {ECO:0000269|PubMed:20975703}.
• Pathway: Lysine degradation - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Post-translational protein modification;Metabolism of proteins;G alpha (i) signalling events;Protein methylation;Inactivation, recovery and regulation of the phototransduction cascade;The phototransduction cascade;Visual phototransduction;GPCR downstream signalling (Consensus)

Intolerance Scores

• rvis_EVS: -0.45
• rvis_percentile_EVS: 24

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.247
• ghis: 0.581

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: Camkmt
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Biological process: protein methylation;mitochondrion organization;peptidyl-lysine methylation;regulation of rhodopsin mediated signaling pathway
• Cellular component: nucleus;cytoplasm;Golgi apparatus;cytosol;protein-containing complex
• Molecular function: calmodulin-lysine N-methyltransferase activity;heat shock protein binding