MB21D2

Mab-21 domain containing 2

Basic information

Region (hg38): 3:192796815-192917856

Previous symbols: [ "C3orf59" ]

Links

ENSG00000180611 ∙ NCBI:151963 ∙ ∙ HGNC:30438 ∙ Uniprot:Q8IYB1 ∙ 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 MB21D2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MB21D2 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			33			33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	0	0

Variants in MB21D2

This is a list of pathogenic ClinVar variants found in the MB21D2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-192798430-C-T		not specified	Uncertain significance (Jun 30, 2023)
3-192798465-G-A		not specified	Uncertain significance (Nov 14, 2023)
3-192798493-T-C		not specified	Uncertain significance (Jan 31, 2023)
3-192798636-T-G		not specified	Uncertain significance (Aug 23, 2021)
3-192798642-G-A		not specified	Uncertain significance (Jan 02, 2025)
3-192798648-G-A		not specified	Uncertain significance (Jan 26, 2022)
3-192798652-G-A		not specified	Uncertain significance (Feb 06, 2023)
3-192798660-G-T		not specified	Uncertain significance (Mar 03, 2025)
3-192798670-G-A		not specified	Uncertain significance (Sep 25, 2023)
3-192798679-G-A		not specified	Uncertain significance (Jan 26, 2025)
3-192798680-C-A		not specified	Uncertain significance (Jan 26, 2025)
3-192798684-A-C		not specified	Uncertain significance (Mar 15, 2023)
3-192798687-G-A		not specified	Uncertain significance (Sep 03, 2024)
3-192798786-A-C		not specified	Uncertain significance (Apr 22, 2022)
3-192798787-G-C		not specified	Uncertain significance (Apr 22, 2022)
3-192798854-C-T		not specified	Uncertain significance (Mar 31, 2022)
3-192798864-C-T		not specified	Uncertain significance (Feb 19, 2025)
3-192798865-G-A		not specified	Uncertain significance (Sep 30, 2021)
3-192798883-T-C		not specified	Uncertain significance (Feb 15, 2023)
3-192799213-C-A		not specified	Uncertain significance (Nov 10, 2024)
3-192799351-T-G		not specified	Uncertain significance (Jan 09, 2024)
3-192799390-T-C		not specified	Uncertain significance (Oct 30, 2023)
3-192799411-G-A		not specified	Uncertain significance (Jun 21, 2021)
3-192799413-A-C		not specified	Uncertain significance (Mar 20, 2023)
3-192799486-T-C		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MB21D2	protein_coding	protein_coding	ENST00000392452	2	121347

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0427	0.952	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	230	287	0.803	0.0000157	3255
Missense in Polyphen		53	91.012	0.58234		1018
Synonymous	-0.625	119	111	1.08	0.00000578	965
Loss of Function	2.44	5	15.3	0.327	8.23e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000883	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.560
• hipred: Y
• hipred_score: 0.592
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mb21d2

Gene ontology

• Molecular function: protein-containing complex binding;cadherin binding