1. Gene
  2. REC8 - REC8 meiotic recombination protein Gene

REC8 - REC8 meiotic recombination protein Gene

Homo sapiens

Also known as Rec8p; REC8L1; HR21spB

Gene ID: 9985 | Gene type: protein coding

About REC8

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,172,080-24,180,923 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 158 orthologues and 2 paralogues. Broad expression in gall bladder (RPKM 12.4), testis (RPKM 11.2) and 23 other tissues.

Summary

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]

REC8 Products(2)

mRNA Protein Name
NM_001048205.2 NP_001041670.1 meiotic recombination protein REC8 homolog
NM_005132.3 NP_005123.2 meiotic recombination protein REC8 homolog
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
24981860 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

REC8 Protein Structure

Rad21_Rec8_N

Rad21_Rec8_N: N terminus of Rad21 / Rec8 like protein (1 - 111)

Rad21_Rec8

Rad21_Rec8: Conserved region of Rad21 / Rec8 like protein (492 - 545)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 546 a.a.
Protein Preferred Names Protein Names

meiotic recombination protein REC8 homolog

REC8 homolog

REC8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
REC8 O95072 BAG2 Homo sapiens O95816 25036637
Intra
REC8 O95072 BAG2 Homo sapiens O95816
TAP
24981860
Intra
REC8 O95072 STUB1 Homo sapiens Q9UNE7
TAP
24981860
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Hereditary Spastic Paraplegia 56

Autosomal Recessive Spastic Paraplegia Type 56

Spg56

Autosomal Recessive Spastic Paraplegia 56

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris REC8 VGNC VGNC:45456
Rattus norvegicus REC8 RGD RGD:1309376
Mus musculus REC8 MGD MGI:1929645
Felis catus REC8 VGNC VGNC:64560
Macaca mulatta REC8 VGNC VGNC:76746
Bos taurus REC8 VGNC VGNC:33846