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Aliases for REC8 Gene

Aliases for REC8 Gene

  • REC8 Meiotic Recombination Protein 2 3 5
  • Cohesin Rec8p 3 4
  • REC8L1 3 4
  • Meiotic Recombination And Sister Chromatid Cohesion Phosphoprotein Of The Rad21p Family 3
  • Recombination And Sister Chromatid Cohesion Protein Homolog 3
  • Meiotic Recombination Protein REC8 Homolog 3
  • Meiotic Recombination Protein REC8-Like 1 3
  • Human Homolog Of Rad21, S. Pombe 3
  • REC8 Homolog (Yeast) 2
  • REC8-Like 1 (Yeast) 2
  • Cohesion Rec8p 3
  • Kleisin-Alpha 3
  • REC8 Homolog 3
  • REC8-Like 1 3
  • HR21spB 3
  • Rec8p 3

External Ids for REC8 Gene

Previous HGNC Symbols for REC8 Gene

  • REC8L1

Previous GeneCards Identifiers for REC8 Gene

  • GC14P022013
  • GC14P018428
  • GC14P023712
  • GC14P024641
  • GC14P004756

Summaries for REC8 Gene

Entrez Gene Summary for REC8 Gene

  • This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for REC8 Gene

REC8 (REC8 Meiotic Recombination Protein) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Meiosis.

UniProtKB/Swiss-Prot for REC8 Gene

  • Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity).

Gene Wiki entry for REC8 Gene

Additional gene information for REC8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REC8 Gene

Genomics for REC8 Gene

GeneHancer (GH) Regulatory Elements for REC8 Gene

Promoters and enhancers for REC8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J024170 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.7 +0.4 399 2.8 HDGF MXI1 USF1 RB1 BACH1 SIN3A EBF1 BMI1 POLR2A NFATC1 REC8 TSSK4 TM9SF1 PIR48221
GH14J024194 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.7 +24.0 24024 3.5 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 TM9SF1 PIR45873 RNF31 PABPN1 NGDN TINF2 TSSK4 RNA5SP383 MDP1 SLC22A17
GH14J024080 Promoter/Enhancer 1.5 Ensembl ENCODE 10 -90.4 -90413 1.8 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 KLF7 ATF7 NGDN CARMIL3 PABPN1 ACIN1 NYNRIN SDR39U1 PSME2 RNF31 IPO4 TM9SF1
GH14J024277 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.4 +107.7 107747 5.2 CTCF PKNOX1 NFIB MAX EBF1 KLF5 RAD21 RFX5 RELA POLR2A PIR40275 DHRS1 TINF2 NOP9 LTB4R2 CIDEB LTB4R GMPR2 NEDD8 NEDD8-MDP1
GH14J024013 Enhancer 1.1 Ensembl ENCODE 10.1 -157.8 -157752 0.6 ARNT ARID4B ZNF2 ZNF48 ZNF121 ARID2 ZNF143 RUNX3 NFKBIZ SP5 CARMIL3 REC8 DHRS4L1 PIR58946 ENSG00000285467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REC8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the REC8 gene promoter:
  • STAT3
  • AML1a
  • STAT1
  • STAT1alpha
  • STAT1beta
  • GATA-3
  • GATA-2
  • GATA-1

Genomic Locations for REC8 Gene

Genomic Locations for REC8 Gene
chr14:24,171,853-24,180,408
(GRCh38/hg38)
Size:
8,556 bases
Orientation:
Plus strand
chr14:24,641,062-24,649,463
(GRCh37/hg19)
Size:
8,402 bases
Orientation:
Plus strand

Genomic View for REC8 Gene

Genes around REC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REC8 Gene

Proteins for REC8 Gene

  • Protein details for REC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95072-REC8_HUMAN
    Recommended name:
    Meiotic recombination protein REC8 homolog
    Protein Accession:
    O95072
    Secondary Accessions:
    • A8K576
    • D3DS62
    • Q658V5
    • Q6IA92
    • Q8WUV8
    • Q9BTF2
    • Q9NVQ9

    Protein attributes for REC8 Gene

    Size:
    547 amino acids
    Molecular mass:
    62614 Da
    Quaternary structure:
    • Interacts (phosphorylated and unphosphorylated form) with SMC3. Interacts with SYCP3. Interacts (phosphorylated and unphosphorylated form) with SMC1B. Does not interact with SMC1A. Interacts with RAD51 (By similarity).

    Alternative splice isoforms for REC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REC8 Gene

Post-translational modifications for REC8 Gene

No data available for DME Specific Peptides for REC8 Gene

Domains & Families for REC8 Gene

Gene Families for REC8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for REC8 Gene

Suggested Antigen Peptide Sequences for REC8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95072

UniProtKB/Swiss-Prot:

REC8_HUMAN :
  • Belongs to the rad21 family.
Family:
  • Belongs to the rad21 family.
genes like me logo Genes that share domains with REC8: view

Function for REC8 Gene

Molecular function for REC8 Gene

UniProtKB/Swiss-Prot Function:
Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity).

Gene Ontology (GO) - Molecular Function for REC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with REC8: view
genes like me logo Genes that share phenotypes with REC8: view

Animal Models for REC8 Gene

MGI Knock Outs for REC8:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for REC8 Gene

Localization for REC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REC8 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=In meiotic chromosomes, localized along axial elements in prophase from the leptotene to diplotene stages. At later prophase stages, diakinesis and metaphase I, localized along interstitial axes of chromosomes including both centromere and arm regions. No longer detected in arm regions in anaphase I but persists on centromere regions until metaphase II. Localised to centromeres and spindle poles in endopolyploid tumor cells. {ECO:0000250 UniProtKB:Q6AYJ4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REC8 gene
Compartment Confidence
nucleus 5
mitochondrion 3
peroxisome 2
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for REC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000778 condensed nuclear chromosome kinetochore IEA --
GO:0000780 condensed nuclear chromosome, centromeric region IEA --
GO:0000793 condensed chromosome IEA --
GO:0000794 condensed nuclear chromosome IEA --
genes like me logo Genes that share ontologies with REC8: view

Pathways & Interactions for REC8 Gene

SuperPathway Contained pathways
1 Meiosis
.73
2 Oocyte meiosis
3 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with REC8: view

Pathways by source for REC8 Gene

3 Reactome pathways for REC8 Gene
1 KEGG pathway for REC8 Gene

Interacting Proteins for REC8 Gene

Gene Ontology (GO) - Biological Process for REC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0001556 oocyte maturation IEA --
GO:0006302 double-strand break repair IBA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion TAS 10207075
genes like me logo Genes that share ontologies with REC8: view

No data available for SIGNOR curated interactions for REC8 Gene

Drugs & Compounds for REC8 Gene

No Compound Related Data Available

Transcripts for REC8 Gene

Unigene Clusters for REC8 Gene

REC8 homolog (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for REC8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6: -
SP7:
SP8: - - -
SP9: -
SP10:
SP11:

ExUns: 16a · 16b · 16c ^ 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for REC8 Gene

GeneLoc Exon Structure for
REC8
ECgene alternative splicing isoforms for
REC8

Expression for REC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for REC8 Gene

This gene is overexpressed in Pituitary (x7.2).

Protein differential expression in normal tissues from HIPED for REC8 Gene

This gene is overexpressed in Liver (32.2), Fetal ovary (30.4), and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for REC8 Gene



Protein tissue co-expression partners for REC8 Gene

NURSA nuclear receptor signaling pathways regulating expression of REC8 Gene:

REC8

SOURCE GeneReport for Unigene cluster for REC8 Gene:

Hs.419259

mRNA Expression by UniProt/SwissProt for REC8 Gene:

O95072-REC8_HUMAN
Tissue specificity: Expressed in testis and thymus. Expressed in the B-cell lines WI-L2-NS and Namalwa (at protein level).

Evidence on tissue expression from TISSUES for REC8 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with REC8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for REC8 Gene

Orthologs for REC8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for REC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REC8 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia REC8 34 33
  • 83.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia REC8 34 33
  • 82.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rec8 16 34 33
  • 79.2 (n)
rat
(Rattus norvegicus)
Mammalia Rec8 33
  • 79.15 (n)
oppossum
(Monodelphis domestica)
Mammalia REC8 34
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rec8 33
  • 54.31 (n)
zebrafish
(Danio rerio)
Actinopterygii rec8a 34
  • 34 (a)
OneToMany
rec8b 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToOne
Species where no ortholog for REC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for REC8 Gene

ENSEMBL:
Gene Tree for REC8 (if available)
TreeFam:
Gene Tree for REC8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for REC8: view image

Paralogs for REC8 Gene

No data available for Paralogs for REC8 Gene

Variants for REC8 Gene

Sequence variations from dbSNP and Humsavar for REC8 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000002146 -- 24,176,014(+) A/C intron_variant
rs1000245282 -- 24,170,289(+) T/C upstream_transcript_variant
rs1001060945 -- 24,171,409(+) G/C upstream_transcript_variant
rs1001168914 -- 24,174,537(+) C/T intron_variant
rs1001530873 -- 24,176,501(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for REC8 Gene

Variant ID Type Subtype PubMed ID
nsv522667 CNV loss 19592680
nsv7249 OTHER inversion 18451855

Variation tolerance for REC8 Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REC8 Gene

Human Gene Mutation Database (HGMD)
REC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REC8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REC8 Gene

Disorders for REC8 Gene

Additional Disease Information for REC8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for REC8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REC8 Gene

Publications for REC8 Gene

  1. Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans. (PMID: 10207075) Parisi S … Kohli J (Molecular and cellular biology 1999) 2 3 4 22 58
  2. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PMID: 20378615) Aston KI … Carrell DT (Human reproduction (Oxford, England) 2010) 3 44 58
  3. Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility. (PMID: 18570052) Griffin J … Carrell DT (Systems biology in reproductive medicine 2008) 3 44 58
  4. Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis. (PMID: 15935783) Xu H … McKay MJ (Developmental cell 2005) 2 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for REC8 Gene

Sources for REC8 Gene

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