REC114 (REC114 meiotic recombination protein)

2014-11-01  

Identity

HGNC
REC114
LOCATION
15q24.1
LOCUSID
283677
ALIAS
C15orf60,CT147,OOMD10

Other Information

Locus ID:

NCBI: 283677
MIM: 618421
HGNC: 25065
Ensembl: ENSG00000183324

Variants:

dbSNP: 283677
ClinVar: 283677
TCGA: ENSG00000183324
COSMIC: REC114

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183324ENST00000331090Q7Z4M0
ENSG00000183324ENST00000560581H0YKR2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
381481552024A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia.0
381481552024A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia.0
317047762020Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.19
317047762020Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.19
281009132017Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.8
281009132017Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.8

Citation

Dessen P

REC114 (REC114 meiotic recombination protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72567/rec114-(rec114-meiotic-recombination-protein)