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

Gene ID: 23383, updated on 24-Nov-2020

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
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
Expression
Ubiquitous expression in testis (RPKM 14.5), ovary (RPKM 12.1) and 25 other tissues See more
Orthologs

Genomic context

See MAU2 in Genome Data Viewer
Location:
19p13.11
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19320607..19358754)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19431496..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 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

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association study reveals two new risk loci for bipolar disorder.
GeneReviews: Not available

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
double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
cohesin loading IDA
Inferred from Direct Assay
more info
PubMed 
maintenance of mitotic sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
maintenance of mitotic sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
SMC loading complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMC loading complex IDA
Inferred from Direct Assay
more info
PubMed 
SMC loading complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
Scc2-Scc4 cohesin loading complex IDA
Inferred from Direct Assay
more info
PubMed 
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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
    Q9Y6X3
    Related
    ENSP00000262815.9, ENST00000262815.13
    Conserved Domains (2) summary
    sd00006
    Location:6594
    TPR; TPR repeat [structural motif]
    pfam10345
    Location:26570
    Cohesin_load; Cohesin loading factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    19320607..19358754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026539.2XP_016882028.1  MAU2 chromatid cohesion factor homolog isoform X3

  2. XM_005259838.4XP_005259895.3  MAU2 chromatid cohesion factor homolog isoform X2

  3. XM_005259837.3XP_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:26569
    Cohesin_load; Cohesin loading factor
  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_011527844.2XP_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

RNA

  1. XR_430132.2 RNA Sequence

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