MBLAC2

metallo-beta-lactamase domain containing 2, the group of MBL domain containing glyoxalase 2 subfamily

Basic information

Region (hg38): 5:90458209-90474771

Links

ENSG00000176055 ∙ NCBI:153364 ∙ ∙ HGNC:33711 ∙ Uniprot:Q68D91 ∙ 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 MBLAC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBLAC2 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			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in MBLAC2

This is a list of pathogenic ClinVar variants found in the MBLAC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-90461202-C-A		not specified	Uncertain significance (Sep 20, 2023)
5-90461216-G-T		not specified	Uncertain significance (Jun 11, 2024)
5-90461219-C-A		not specified	Uncertain significance (Dec 15, 2022)
5-90461282-C-A		not specified	Uncertain significance (Mar 18, 2024)
5-90461309-T-C		not specified	Uncertain significance (Dec 17, 2023)
5-90461347-G-C		not specified	Uncertain significance (Jul 25, 2023)
5-90461367-G-A		not specified	Uncertain significance (May 03, 2023)
5-90461384-T-C		not specified	Uncertain significance (May 15, 2023)
5-90461436-C-T		not specified	Uncertain significance (Apr 07, 2022)
5-90461441-T-C		not specified	Uncertain significance (Sep 15, 2022)
5-90461513-A-G		not specified	Uncertain significance (Apr 25, 2023)
5-90473844-T-G		not specified	Uncertain significance (Oct 03, 2022)
5-90473863-G-T		not specified	Uncertain significance (Jun 12, 2023)
5-90473875-C-T		not specified	Uncertain significance (Jan 24, 2023)
5-90473925-C-T		not specified	Uncertain significance (Apr 24, 2023)
5-90474001-C-T		not specified	Uncertain significance (Feb 27, 2024)
5-90474016-A-T		not specified	Uncertain significance (Mar 26, 2024)
5-90474093-T-C		not specified	Likely benign (May 18, 2023)
5-90474285-G-A		not specified	Uncertain significance (May 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBLAC2	protein_coding	protein_coding	ENST00000316610	2	16566

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000454	0.662	125702	0	45	125747	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.592	142	163	0.870	0.00000790	1781
Missense in Polyphen		31	52.767	0.58749		586
Synonymous	-0.0268	66	65.7	1.00	0.00000316	574
Loss of Function	0.884	8	11.2	0.715	7.16e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000906	0.0000906
Ashkenazi Jewish	0.00	0.00
East Asian	0.000273	0.000272
Finnish	0.000325	0.000323
European (Non-Finnish)	0.000216	0.000211
Middle Eastern	0.000273	0.000272
South Asian	0.000143	0.000131
Other	0.000494	0.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.52
• rvis_percentile_EVS: 21.2

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.528
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.359

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mblac2

Gene ontology

• Biological process: biological_process
• Cellular component: extracellular exosome
• Molecular function: molecular_function;hydrolase activity;metal ion binding