Details for: REC8

Gene ID: 9985

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: REC8

Ensembl ID: ENSG00000100918

Description: REC8 meiotic recombination protein

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • stem cell CL0000034
    CSI 6.66
    rCSI 6.42%
    PRS 89.14
  • intestinal epithelial cell CL0002563
    CSI 5
    rCSI 5.23%
    PRS 90.44
  • epithelial cell CL0000066
    CSI 4.94
    rCSI 7.58%
    PRS 81.35
  • fallopian tube secretory epithelial cell CL4030006
    CSI 4.39
    rCSI 4.22%
    PRS 91.35
  • intestine goblet cell CL0019031
    CSI 3.78
    rCSI 3.36%
    PRS 90.39
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.47
    rCSI 2.42%
    PRS 95.19
  • multi-ciliated epithelial cell CL0005012
    CSI 3.35
    rCSI 3.35%
    PRS 87.54
  • secretory cell CL0000151
    CSI 3.26
    rCSI 3.4%
    PRS 91.64
  • enteroendocrine cell CL0000164
    CSI 2.95
    rCSI 4.04%
    PRS 90.69
  • goblet cell CL0000160
    CSI 2.92
    rCSI 2.76%
    PRS 90.49
  • early lymphoid progenitor CL0000936
    CSI 2.88
    rCSI 2.53%
    PRS 95.12
  • neural crest cell CL0011012
    CSI 2.82
    rCSI 2.23%
    PRS 86.76
  • hematopoietic stem cell CL0000037
    CSI 2.79
    rCSI 1.86%
    PRS 93.7
  • M cell of gut CL0000682
    CSI 2.71
    rCSI 2.87%
    PRS 94.22
  • respiratory suprabasal cell CL4033048
    CSI 2.48
    rCSI 3.18%
    PRS 93.72
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.45
    rCSI 2.83%
    PRS 85.77
  • kidney epithelial cell CL0002518
    CSI 2.41
    rCSI 4.6%
    PRS 97.99
  • ciliated epithelial cell CL0000067
    CSI 2.4
    rCSI 2.11%
    PRS 84.9
  • mucous neck cell CL0000651
    CSI 2.38
    rCSI 3.43%
    PRS 94.6
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 2.37
    rCSI 2.14%
    PRS 91.5
  • lung ciliated cell CL1000271
    CSI 2.24
    rCSI 2.58%
    PRS 87.91
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 2.09
    rCSI 2.13%
    PRS 96.27
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 2.04
    rCSI 1.57%
    PRS 95.2
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.03
    rCSI 2.61%
    PRS 89.25
  • radial glial cell CL0000681
    CSI 2.03
    rCSI 2.82%
    PRS 90.99
  • ciliated cell CL0000064
    CSI 1.98
    rCSI 3.2%
    PRS 87.16
  • extravillous trophoblast CL0008036
    CSI 1.92
    rCSI 2.38%
    PRS 91.13
  • peripheral nervous system neuron CL2000032
    CSI 1.91
    rCSI 2.6%
    PRS 86.87
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 1.85
    rCSI 5.46%
    PRS 92.09
  • progenitor cell CL0011026
    CSI 1.64
    rCSI 3.5%
    PRS 86.68
  • enterocyte CL0000584
    CSI 1.56
    rCSI 2.51%
    PRS 89.83
  • club cell CL0000158
    CSI 1.48
    rCSI 2.17%
    PRS 88.78
  • type B pancreatic cell CL0000169
    CSI 1.46
    rCSI 3.23%
    PRS 92.39
  • glioblast CL0000030
    CSI 1.44
    rCSI 2.3%
    PRS 85.97
  • deuterosomal cell CL4033044
    CSI 1.39
    rCSI 4.68%
    PRS 87.36
  • neural progenitor cell CL0011020
    CSI 1.37
    rCSI 6.03%
    PRS 83.03
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 1.37
    rCSI 3.28%
    PRS 97.53
  • forebrain radial glial cell CL0013000
    CSI 1
    rCSI 3.21%
    PRS 92.27
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 0.99
    rCSI 2.26%
    PRS 86.32
  • pancreatic epsilon cell CL0005019
    CSI 0.81
    rCSI 3.79%
    PRS 95.03
  • erythroid progenitor cell CL0000038
    CSI 0.78
    rCSI 4.45%
    PRS 93.82
  • group 2 innate lymphoid cell CL0001069
    CSI 0.52
    rCSI 2.83%
    PRS 98.01
  • P/D1 enteroendocrine cell CL0002268
    CSI 0.46
    rCSI 2.53%
    PRS 94.12

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [REC8](/details-gene/9985) (REC8 meiotic recombination protein) is a crucial protein that functions as a component of the meiotic cohesin complex. This complex is essential for maintaining the cohesion of sister chromatids during meiosis, a process critical for proper chromosome segregation in germ cells. Functional annotations strongly link [REC8](/details-gene/9985) to [Meiotic cell cycle](/details-cell/GO:0051321), [Sister chromatid cohesion](/details-cell/GO:0007062), and [Double-strand break repair](/details-cell/GO:0006302). While its primary role is established in meiosis and gametogenesis, such as [Spermatogenesis](/details-cell/GO:0007283) [Link](https://doi.org/10.1128/mcb.19.5.3515), expression data indicates a significant presence in a variety of somatic cell types. **Overall**, it shows high significance in [stem cell](/details-cell/CL0000034) (CSI: 6.66) and diverse epithelial lineages, including [intestinal epithelial cell](/details-cell/CL0002563) (CSI: 5.00), suggesting a potentially broader role in chromosome maintenance in highly proliferative tissues. ## Cellular Roles and Expression Landscape The expression profile of [REC8](/details-gene/9985) highlights its importance in cells characterized by high proliferative capacity and renewal potential. **Overall**, the gene demonstrates the highest significance in undifferentiated [stem cell](/details-cell/CL0000034) populations (CSI: 6.66), as well as more committed progenitors like [early lymphoid progenitor](/details-cell/CL0000936) (CSI: 2.88) and [hematopoietic stem cell](/details-cell/CL0000037) (CSI: 2.79). This pattern suggests a role in maintaining genomic integrity during the rapid cell divisions inherent to these cell types. Beyond stem and progenitor cells, [REC8](/details-gene/9985) is also a significant gene in various specialized [epithelial cell](/details-cell/CL0000066) (CSI: 4.94) lineages, particularly those involved in secretory functions. This includes high significance in [intestinal epithelial cell](/details-cell/CL0002563) (CSI: 5.00), [fallopian tube secretory epithelial cell](/details-cell/CL4030006) (CSI: 4.39), and [intestine goblet cell](/details-cell/CL0019031) (CSI: 3.78). This broad expression in renewing epithelia of the gut and reproductive tract is consistent with its canonical function in chromosome cohesion being co-opted for robust mitotic divisions in these somatic tissues. ## Pathways and Molecular Function The functions of [REC8](/details-gene/9985) are centrally located within the machinery of cell division and DNA maintenance. As a core component of the [Meiotic cohesin complex](/details-cell/GO:0030893), it is indispensable for the [Meiosis](/details-cell/R-HSA-1500620) pathway, where it ensures sister chromatids remain linked until the appropriate anaphase stage. Its involvement is critical for processes such as [Synaptonemal complex assembly](/details-cell/GO:0007130) and [Reciprocal meiotic recombination](/details-cell/GO:0007131). Furthermore, [REC8](/details-gene/9985) is annotated to the [Double-strand break repair](/details-cell/GO:0006302) pathway, a function that is not limited to meiosis but is also vital for somatic cell genomic stability. Its molecular function as a [Chromatin binding](/details-cell/GO:0003682) protein, localized primarily to the [Nucleus](/details-cell/GO:0005634) and specifically to structures like the [Kinetochore](/details-cell/GO:0000776), underpins its direct role in chromosome dynamics. This broader role in DNA repair and cell cycle control ([R-HSA-1640170](https://reactome.org/content/detail/R-HSA-1640170)) may explain its significant expression in mitotically active somatic cells. ## Research Directions The unexpected high significance of [REC8](/details-gene/9985) in somatic stem cells and epithelial tissues, far beyond its canonical meiotic role, presents key avenues for future research. The primary question is whether [REC8](/details-gene/9985) has a non-canonical, meiosis-independent function in these cells or if it serves as a specialized cohesin subunit for ensuring high-fidelity mitosis in rapidly dividing tissues. Based on the available data, several testable hypotheses can be proposed: 1. [REC8](/details-gene/9985) is essential for maintaining genomic stability in somatic stem cells, such as those in the intestinal crypt, by enforcing proper sister chromatid cohesion during rapid mitotic cycles. Its downregulation or mutation in these cells could lead to aneuploidy and contribute to tumorigenesis. 2. The expression of [REC8](/details-gene/9985) in terminally differentiated secretory cells, such as [goblet cell](/details-cell/CL0000160), is not related to cell division but rather to the regulation of gene expression. Through its [Chromatin binding](/details-cell/GO:0003682) function, it may help organize chromatin domains to facilitate the expression of genes required for specialized secretory functions. To test the first hypothesis regarding its role in somatic stem cell fidelity, a key experiment could be performed. A conditional knockout of [REC8](/details-gene/9985) could be generated in a mouse model using an intestinal stem cell-specific Cre-driver (e.g., Lgr5-CreERT2). Following tamoxifen-induced deletion, intestinal organoids derived from these mice could be analyzed for mitotic defects, such as chromosome mis-segregation and lagging chromosomes, using immunofluorescence microscopy. Furthermore, single-cell genomic analysis of the resulting epithelial cell populations could directly quantify the rate of aneuploidy, providing direct evidence for its role in maintaining chromosomal integrity in a somatic tissue. Given its fundamental role in cell division, [REC8](/details-gene/9985) could represent a potential therapeutic target in oncology. Cancers are often characterized by high proliferation rates and chromosomal instability, and targeting a key cohesin component could selectively kill cancer cells. However, its nuclear localization makes it inaccessible to antibody-based therapies, suggesting that small molecule inhibitors would be the required modality. A significant challenge would be potential on-target toxicity in healthy, highly proliferative tissues like the intestinal epithelium and hematopoietic system, which also show significant [REC8](/details-gene/9985) expression. Therefore, a therapeutic strategy would likely require targeted delivery or exploitation of specific cancer cell vulnerabilities.

Genular Protein ID: 600064750

Symbol: REC8_HUMAN

Name: Meiotic recombination protein REC8 homolog

UniProtKB Accession Codes:

O95072 A8K576 D3DS62 Q658V5 Q6IA92 Q8WUV8 Q9BTF2 Q9NVQ9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 4 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 2 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10207075

Title: Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans.

PubMed ID: 10207075

DOI: 10.1128/mcb.19.5.3515

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 547
  • Mass: 62614
  • Checksum: 544AA31F2D038D7B
  • Sequence:
    • MFYYPNVLQR HTGCFATIWL AATRGSRLVK REYLRVNVVK TCEEILNYVL VRVQPPQPGL 
PRPRFSLYLS AQLQIGVIRV YSQQCQYLVE DIQHILERLH RAQLQIRIDM ETELPSLLLP 
NHLAMMETLE DAPDPFFGMM SVDPRLPSPF DIPQIRHLLE AAIPERVEEI PPEVPTEPRE 
PERIPVTVLP PEAITILEAE PIRMLEIEGE RELPEVSRRE LDLLIAEEEE AILLEIPRLP 
PPAPAEVEGI GEALGPEELR LTGWEPGALL MEVTPPEELR LPAPPSPERR PPVPPPPRRR 
RRRRLLFWDK ETQISPEKFQ EQLQTRAHCW ECPMVQPPER TIRGPAELFR TPTLSGWLPP 
ELLGLWTHCA QPPPKALRRE LPEEAAAEEE RRKIEVPSEI EVPREALEPS VPLMVSLEIS 
LEAAEEEKSR ISLIPPEERW AWPEVEAPEA PALPVVPELP EVPMEMPLVL PPELELLSLE 
AVHRAVALEL QANREPDFSS LVSPLSPRRM AARVFYLLLV LSAQQILHVK QEKPYGRLLI 
QPGPRFH