MORN3

protein-coding

MORN repeat containing 3

Gene summary

Enables protein-macromolecule adaptor activity. Involved in negative regulation of signal transduction by p53 class mediator. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_173855.5

Inheritance

—

ClinVar variants

P:1U:50B:4

Top phenotype

Primary ciliary dyskinesia

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr12:121,648,742-121,672,631

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~23.9 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 MORN3 variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 47
not providedTotal: 2
Primary ciliary dyskinesiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173855.5. 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
1
clinvar
1
missense
48
clinvar
3
clinvar
1
clinvar
52
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total01503155

Highest pathogenic variant AF is 0.000021687834

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_173855.5RefSeqNP_776254.35MANE Select
ENST00000355329.7EnsemblENSP00000347486.35MANE Select
NM_001363685.2RefSeqNP_001350614.15Standard
ENST00000392462.6EnsemblENSP00000376255.24Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

  • protein binding

Cellular Component

  • nucleus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000355329
Coding exons
5
Length
21514
Individuals with no LoFs
125665
Homozygous LoFs
0
Heterozygous LoFs
82
Defined
125747
p
0.000326
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense0.6161291500.8590.000009441571
Missense (PolyPhen)4648.7340.94391432
Synonymous0.4135559.00.9320.00000428404
Loss of Function0.7051214.90.8037.23e-7163

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000190.00018rare
Latino/Admixed American0.000210.00020rare
Ashkenazi Jewish0.00220.0022notable
East Asian0.000930.00087rare
Finnish0.0000460.000046rare
European (Non-Finnish)0.000280.00026rare
South Asian0.000110.000098rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool
0.725
RVIS EVS
-0.12
RVIS percentile EVS
45.13

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.214

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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