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

Gene ID: 23383, updated on 21-Nov-2022

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
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Genomic context

See MAU2 in Genome Data Viewer
Location:
19p13.11
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19320829..19358754)
110 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_000019.10Genomic Context describing neighboring genes Neighboring gene transmembrane 6 superfamily member 2 Neighboring gene SURP and G-patch domain containing 1 Neighboring gene uncharacterized LOC124904656 Neighboring gene GATA zinc finger domain containing 2A Neighboring gene microRNA 640 Neighboring gene Sharpr-MPRA regulatory region 5941

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0892, MGC75361

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 cohesin loading IDA
Inferred from Direct Assay
more info
PubMed 
involved_in maintenance of mitotic sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in maintenance of mitotic sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of SMC loading complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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

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)

  1. NM_015329.4NP_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
    Q9UFX8, Q9Y6X3
    Related
    ENSP00000262815.9, ENST00000262815.13
    Conserved Domains (2) summary
    sd00006
    Location:6594
    TPR; TPR repeat [structural motif]
    pfam10345
    Location:23570
    Cohesin_load; Cohesin loading factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    19320829..19358754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259837.4XP_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:6594
    TPR; TPR repeat [structural motif]
    pfam10345
    Location:23569
    Cohesin_load; Cohesin loading factor
  2. XM_005259838.5XP_005259895.4  MAU2 chromatid cohesion factor homolog isoform X2

  3. XM_017026539.3XP_016882028.2  MAU2 chromatid cohesion factor homolog isoform X3

  4. XM_006722711.3XP_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:6594
    TPR; TPR repeat [structural motif]
    pfam10345
    Location:23435
    Cohesin_load; Cohesin loading factor
    pfam13414
    Location:379442
    TPR_11; TPR repeat
  5. XM_011527844.3XP_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:187215
    TPR; TPR repeat [structural motif]
    pfam10345
    Location:1378
    Cohesin_load; Cohesin loading factor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19458285..19496258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)