MAU2 MAU2 sister chromatid cohesion factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAU2provided by HGNC
Official Full Name: MAU2 sister chromatid cohesion factorprovided by HGNC
Primary source: HGNC:HGNC:29140
See related: Ensembl:ENSG00000129933 MIM:614560; AllianceGenome:HGNC:29140
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCC4; MAU2L; mau-2; KIAA0892
Summary: Enables protein N-terminus binding activity. Involved in cohesin loading and maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 14.5), ovary (RPKM 12.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19320829..19358754)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19458285..19496258)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19431638..19469563)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Title: MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Here, the authors show that, in human cells, cohesin loading onto chromosomes during early S phase requires the replicative helicase MCM2-7 and the kinase DDK. Cohesin and its loader SCC2/4 (NIPBL/MAU2 in humans) associate with DDK and phosphorylated MCM2-7.
Title: MCM2-7-dependent cohesin loading during S phase promotes sister-chromatid cohesion.
specific novel mutations at the N-terminus of the MAU2-interacting domain of NIBPL result in markedly reduced MAU2 binding.
Title: Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Human MAU-2 family member has weak similarity to yeast Scc4 and is associated with Scc2, bound to chromatin from telophase until prophase, and required for association of cohesin with chromatin during interphase
Title: Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals two new risk loci for bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH11565 (e-PCR)
- UniSTS:50984

T03529 (e-PCR)
- UniSTS:22084

G59006 (e-PCR)
- UniSTS:136330

SHGC-156040 (e-PCR)
- UniSTS:183221

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cohesin loader activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in maintenance of mitotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in maintenance of mitotic sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic sister chromatid cohesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of SMC loading complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SMC loading complex	IDA Inferred from Direct Assay more info	PubMed
part_of SMC loading complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of Scc2-Scc4 cohesin loading complex	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: MAU2 chromatid cohesion factor homolog

Names: cohesin loading complex subunit SCC4 homolog; protein MAU-2; sister chromatid cohesion 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015329.4 → NP_056144.3 MAU2 chromatid cohesion factor homolog

See identical proteins and their annotated locations for NP_056144.3

Status: VALIDATED

Source sequence(s)

AB020699, AC003030, AC022543, BY795974

Consensus CDS

CCDS32969.2

UniProtKB/Swiss-Prot

Q66PT1, Q6P3S7, Q6ZTT2, Q9UFX8, Q9Y6X3

Related

ENSP00000262815.9, ENST00000262815.13

Conserved Domains (2) summary

sd00006
Location:65 → 94

TPR; TPR repeat [structural motif]

pfam10345
Location:23 → 570

Cohesin_load; Cohesin loading factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

19320829..19358754

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259837.4 → XP_005259894.2 MAU2 chromatid cohesion factor homolog isoform X1

See identical proteins and their annotated locations for XP_005259894.2

Conserved Domains (2) summary

sd00006
Location:65 → 94

TPR; TPR repeat [structural motif]

pfam10345
Location:23 → 569

Cohesin_load; Cohesin loading factor
XM_005259838.5 → XP_005259895.4 MAU2 chromatid cohesion factor homolog isoform X2
XM_017026539.3 → XP_016882028.2 MAU2 chromatid cohesion factor homolog isoform X3
XM_006722711.3 → XP_006722774.2 MAU2 chromatid cohesion factor homolog isoform X4

See identical proteins and their annotated locations for XP_006722774.2

Conserved Domains (3) summary

sd00006
Location:65 → 94

TPR; TPR repeat [structural motif]

pfam10345
Location:23 → 435

Cohesin_load; Cohesin loading factor

pfam13414
Location:379 → 442

TPR_11; TPR repeat
XM_011527844.3 → XP_011526146.1 MAU2 chromatid cohesion factor homolog isoform X5

See identical proteins and their annotated locations for XP_011526146.1

Conserved Domains (2) summary

sd00006
Location:187 → 215

TPR; TPR repeat [structural motif]

pfam10345
Location:1 → 378

Cohesin_load; Cohesin loading factor

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

19458285..19496258

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320383.1 → XP_054176358.1 MAU2 chromatid cohesion factor homolog isoform X1
XM_054320384.1 → XP_054176359.1 MAU2 chromatid cohesion factor homolog isoform X2
XM_054320385.1 → XP_054176360.1 MAU2 chromatid cohesion factor homolog isoform X3
XM_054320386.1 → XP_054176361.1 MAU2 chromatid cohesion factor homolog isoform X4
XM_054320387.1 → XP_054176362.1 MAU2 chromatid cohesion factor homolog isoform X5