MMD2

monocyte to macrophage differentiation associated 2, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 7:4905989-4959212

Links

ENSG00000136297 ∙ NCBI:221938 ∙ OMIM:614581 ∙ HGNC:30133 ∙ Uniprot:Q8IY49 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MMD2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMD2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

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 donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in MMD2

This is a list of pathogenic ClinVar variants found in the MMD2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-4907403-G-C		not specified	Uncertain significance (Dec 11, 2023)
7-4907433-T-C		not specified	Uncertain significance (Jan 23, 2023)
7-4907500-C-T		MMD2-related condition	Uncertain significance (Mar 20, 2024)
7-4907521-C-T		not specified	Uncertain significance (Jul 11, 2023)
7-4907560-C-A		not specified	Uncertain significance (Nov 17, 2022)
7-4907598-G-A		not specified	Uncertain significance (Jul 06, 2021)
7-4909915-A-G		not specified	Uncertain significance (Mar 29, 2023)
7-4909922-C-T		not specified	Uncertain significance (Apr 01, 2024)
7-4909975-G-A		not specified	Uncertain significance (Jul 26, 2022)
7-4910004-C-A		not specified	Uncertain significance (Mar 28, 2023)
7-4910012-A-C		not specified	Uncertain significance (Dec 07, 2021)
7-4911168-G-C		not specified	Uncertain significance (Mar 16, 2022)
7-4911206-G-A		not specified	Likely benign (Feb 21, 2024)
7-4911236-G-A		not specified	Uncertain significance (Nov 12, 2021)
7-4916051-C-A		not specified	Uncertain significance (Apr 27, 2023)
7-4916051-C-T		not specified	Uncertain significance (Sep 28, 2022)
7-4916075-C-A		not specified	Uncertain significance (Aug 21, 2023)
7-4920190-A-G		not specified	Uncertain significance (Oct 05, 2022)
7-4920198-G-A		not specified	Uncertain significance (Mar 31, 2023)
7-4920258-G-C		not specified	Uncertain significance (Apr 19, 2023)
7-4920280-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-4920326-C-A		not specified	Uncertain significance (Nov 06, 2023)
7-4925519-G-C		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMD2	protein_coding	protein_coding	ENST00000404774	7	53225

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.86e-8	0.251	124610	0	33	124643	0.000132

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.124	161	157	1.03	0.00000881	1757
Missense in Polyphen		48	58.227	0.82436		635
Synonymous	-0.985	75	64.9	1.16	0.00000445	501
Loss of Function	0.410	12	13.6	0.880	6.63e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000534	0.000523
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000124
Middle Eastern	0.0000557	0.0000556
South Asian	0.000105	0.0000980
Other	0.000183	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.649
• rvis_EVS: -0.63
• rvis_percentile_EVS: 17.03

Haploinsufficiency Scores

• pHI: 0.0999
• hipred: N
• hipred_score: 0.342
• ghis: 0.632

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmd2

Gene ontology

• Biological process: protein phosphorylation;regulation of protein localization;positive regulation of neuron differentiation;positive regulation of protein kinase activity;positive regulation of Ras protein signal transduction
• Cellular component: Golgi membrane;integral component of membrane;perinuclear region of cytoplasm
• Molecular function: protein kinase activity