MAMDC2

protein-coding

MAM domain containing 2

Gene summary

Predicted to enable glycosaminoglycan binding activity. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_153267.5

Inheritance

AD, AR

ClinVar variants

U:98B:8

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.55

Max pathogenic AF

—

Genomic locus

chr9:70,043,848-70,226,972

External References & Databases

Ensembl (ENSG00000165072)

Transcript & Mutation Effects

hg38 • Region Span ~183.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

muscular dystrophyMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0020121

Submitter: PanelApp Australia

muscular dystrophyMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0020121

Submitter: LiferaOmics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MAMDC2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 88

not providedTotal: 6

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153267.5. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		2 clinvar	3
missense			94 clinvar	4 clinvar	2 clinvar	100
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	98	4	4	106

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153267.5	RefSeq	NP_694999.3	14	MANE Select
ENST00000377182.5	Ensembl	ENSP00000366387.4	14	MANE Select
NM_001347990.2	RefSeq	NP_001334919.1	12	Standard
ENST00000864379.1	Ensembl	ENSP00000534438.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular region
endoplasmic reticulum
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377182
Coding exons: 14
Length: 183390
Individuals with no LoFs: 125697
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125748
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.275	351	366	0.960	0.0000182	4482
Missense (PolyPhen)		127	149.14	0.85153		1859
Synonymous	0.467	127	134	0.949	0.00000656	1265
Loss of Function	2.64	22	40.0	0.550	0.00000204	455

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00038	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00019	0.00018	rare
South Asian	0.00037	0.00036	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.106

Intolerance Scores

LoFtool: 0.829
RVIS EVS: 0.22
RVIS percentile EVS: 68.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.298

Gene Damage Prediction

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