MYADML2

protein-coding

myeloid associated differentiation marker like 2, the group of MARVEL domain containing

Gene summary

Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001145113.3

Inheritance

ClinVar variants

U:71B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr17:81,939,645-81,947,233

External References & Databases

Ensembl (ENSG00000185105)

Transcript & Mutation Effects

hg38 • Region Span ~7.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

connective tissue disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0003900

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYADML2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 72

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145113.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			71 clinvar	3 clinvar		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	4	0	75

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145113.3	RefSeq	NP_001138585.2	1	MANE Select
ENST00000409745.2	Ensembl	ENSP00000386702.2	1	MANE Select
ENST00000858967.1	Ensembl	ENSP00000529026.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

cytoplasm
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000409745
Coding exons: 1
Length: 7589
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.615	185	210	0.881	0.0000150	1913
Missense (PolyPhen)		32	53.598	0.59704		562
Synonymous	0.727	96	106	0.910	0.00000829	713
Loss of Function	0.0919	6	6.25	0.960	2.69e-7	63

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.75
RVIS percentile EVS: 86.41

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.296

Gene Damage Prediction

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