MEDAG

protein-coding

mesenteric estrogen dependent adipogenesis

Gene summary

Predicted to be involved in positive regulation of fat cell differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C13orf33

MANE transcript

NM_032849.4

Inheritance

—

ClinVar variants

U:56B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr13:30,906,271-30,925,572

External References & Databases

Ensembl (ENSG00000102802)

Transcript & Mutation Effects

hg38 • Region Span ~19.3 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 MEDAG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 55

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032849.4. 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 clinvar		2
missense			54 clinvar	2 clinvar		56
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	3	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032849.4	RefSeq	NP_116238.3	5	MANE Select
ENST00000380482.9	Ensembl	ENSP00000369849.4	5	MANE Select
ENST00000428944.1	Ensembl	ENSP00000416838.1	4	Standard
ENST00000904728.1	Ensembl	ENSP00000574787.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of fat cell differentiation

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380482
Coding exons: 5
Length: 19382
Individuals with no LoFs: 125644
Homozygous LoFs: 1
Heterozygous LoFs: 103
Defined: 125748
p: 0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.433	166	151	1.10	0.00000758	1954
Missense (PolyPhen)		75	65.871	1.1386		898
Synonymous	1.33	46	59.0	0.780	0.00000289	574
Loss of Function	0.977	9	12.8	0.705	7.10e-7	153

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00031	rare
Latino/Admixed American	0.00012	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00066	0.00065	rare
Finnish	0.00036	0.00032	rare
European (Non-Finnish)	0.00056	0.00047	rare
South Asian	0.00070	0.00065	rare
Other	0.00082	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes. {ECO:0000250}.;

Intolerance Scores

RVIS EVS: -0.18
RVIS percentile EVS: 39.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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