MAU2

MAU2 sister chromatid cohesion factor

Basic information

Region (hg38): 19:19320829-19358754

Previous symbols: [ "KIAA0892" ]

Links

ENSG00000129933 ∙ NCBI:23383 ∙ OMIM:614560 ∙ HGNC:29140 ∙ Uniprot:Q9Y6X3 ∙ 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 MAU2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAU2 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			9	1		10
nonsense						0
start loss						0
frameshift			1			1
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	1

Variants in MAU2

This is a list of pathogenic ClinVar variants found in the MAU2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-19320880-AGCGGCCCAGGCGGCG-A			Benign (Oct 09, 2018)
19-19320891-C-G		not specified	Uncertain significance (Jun 22, 2022)
19-19321046-A-C		not specified	Uncertain significance (Sep 25, 2023)
19-19321046-A-T		not specified	Uncertain significance (Sep 13, 2023)
19-19335718-T-C		not specified	Uncertain significance (Mar 24, 2023)
19-19337240-A-AC			Uncertain significance (Nov 25, 2020)
19-19341289-C-T		not specified	Uncertain significance (Sep 03, 2024)
19-19341402-G-A		not specified	Uncertain significance (Jul 17, 2024)
19-19342543-C-G		Autism spectrum disorder	Likely benign (Aug 05, 2022)
19-19342586-A-G		not specified	Uncertain significance (Sep 25, 2024)
19-19342861-T-G		not specified	Uncertain significance (May 23, 2023)
19-19344880-C-A		not specified	Uncertain significance (Mar 31, 2024)
19-19344880-C-T		not specified	Uncertain significance (Apr 17, 2023)
19-19345359-C-T		not specified	Uncertain significance (Nov 11, 2024)
19-19347340-C-T		not specified	Uncertain significance (Jun 16, 2024)
19-19349327-G-A		not specified	Uncertain significance (Apr 17, 2024)
19-19355279-G-T		not specified	Uncertain significance (Sep 22, 2023)
19-19355291-T-C		not specified	Uncertain significance (Jun 25, 2024)
19-19355386-A-C		not specified	Uncertain significance (Oct 04, 2022)
19-19355396-G-A			Uncertain significance (Jun 01, 2024)
19-19355729-G-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAU2	protein_coding	protein_coding	ENST00000392313	19	38074

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000320	124740	0	1	124741	0.00000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.03	150	368	0.408	0.0000218	3982
Missense in Polyphen		18	128.8	0.13975		1412
Synonymous	-1.48	186	162	1.15	0.0000104	1190
Loss of Function	5.70	1	39.8	0.0251	0.00000196	414

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347). {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679}.
• Pathway: Cohesin Loading onto Chromatin;Mitotic Telophase/Cytokinesis;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Intolerance Scores

• rvis_EVS: -0.76
• rvis_percentile_EVS: 13.33

Haploinsufficiency Scores

• pHI: 0.269
• hipred: Y
• hipred_score: 0.673
• ghis: 0.646

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• 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: Mau2
• Phenotype: craniofacial phenotype; cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; growth/size/body region phenotype; vision/eye phenotype; hearing/vestibular/ear phenotype; skeleton phenotype; immune system phenotype; embryo phenotype

Gene ontology

• Biological process: maintenance of mitotic sister chromatid cohesion;cell division;cohesin loading
• Cellular component: chromatin;nucleus;nucleoplasm;nuclear body;SMC loading complex;Scc2-Scc4 cohesin loading complex
• Molecular function: double-stranded DNA binding;protein binding;protein N-terminus binding