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GeneBe

CNNM3

cyclin and CBS domain divalent metal cation transport mediator 3, the group of Cyclin and CBS domain divalent metal cation transport mediators

Basic information

Region (hg38): 2:96816244-96835382

Previous symbols: [ "ACDP3" ]

Links

ENSG00000168763NCBI:26505OMIM:607804HGNC:104Uniprot:Q8NE01AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CNNM3 gene.

  • Inborn genetic diseases (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNNM3 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 21 1 22
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 21 1 0

Variants in CNNM3

This is a list of pathogenic ClinVar variants found in the CNNM3 region.

Position Type Phenotype Significance ClinVar
2-96816305-C-G Inborn genetic diseases Uncertain significance (Aug 12, 2021)link
2-96816305-C-T Inborn genetic diseases Uncertain significance (Jul 06, 2021)link
2-96816372-G-C Inborn genetic diseases Uncertain significance (Oct 22, 2021)link
2-96816423-T-C Inborn genetic diseases Likely benign (Dec 03, 2021)link
2-96816492-C-T Inborn genetic diseases Uncertain significance (May 17, 2023)link
2-96816618-C-T Inborn genetic diseases Uncertain significance (Sep 01, 2021)link
2-96816653-G-T Inborn genetic diseases Uncertain significance (Feb 22, 2023)link
2-96816660-C-T Inborn genetic diseases Uncertain significance (Jul 19, 2022)link
2-96816824-C-T Inborn genetic diseases Uncertain significance (Apr 04, 2023)link
2-96816842-C-T Inborn genetic diseases Uncertain significance (Jul 26, 2022)link
2-96816882-C-G Inborn genetic diseases Uncertain significance (Apr 07, 2023)link
2-96816909-T-C Inborn genetic diseases Uncertain significance (Aug 30, 2021)link
2-96816933-A-G Inborn genetic diseases Uncertain significance (May 06, 2022)link
2-96816939-C-G Inborn genetic diseases Uncertain significance (Jun 27, 2023)link
2-96816956-G-A Inborn genetic diseases Uncertain significance (Jun 23, 2023)link
2-96817014-G-T Inborn genetic diseases Uncertain significance (Mar 11, 2022)link
2-96817074-C-G Inborn genetic diseases Uncertain significance (May 17, 2023)link
2-96817076-C-G Inborn genetic diseases Uncertain significance (Feb 15, 2023)link
2-96817103-C-G Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
2-96817158-C-G Inborn genetic diseases Uncertain significance (May 09, 2022)link
2-96817393-T-G Inborn genetic diseases Uncertain significance (Apr 17, 2023)link
2-96817437-A-G Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
2-96825150-G-A Inborn genetic diseases Uncertain significance (Feb 27, 2023)link
2-96825154-T-C Inborn genetic diseases Uncertain significance (Oct 26, 2021)link
2-96826911-T-C Inborn genetic diseases Uncertain significance (Nov 10, 2021)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CNNM3protein_codingprotein_codingENST00000305510 817667
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.12e-70.8931257130351257480.000139
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7562562920.8760.00001694388
Missense in Polyphen96125.760.763331870
Synonymous-0.4701471401.050.000009081619
Loss of Function1.661422.50.6220.00000140258

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001810.000181
Ashkenazi Jewish0.000.00
East Asian0.0002720.000272
Finnish0.0003250.000323
European (Non-Finnish)0.0001320.000132
Middle Eastern0.0002720.000272
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Probable metal transporter. {ECO:0000250}.;

Recessive Scores

pRec
0.108

Haploinsufficiency Scores

pHI
0.258
hipred
hipred_score
ghis
0.560

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.949

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cnnm3
Phenotype

Gene ontology

Biological process
ion transport
Cellular component
plasma membrane;membrane;integral component of membrane
Molecular function
protein binding