MKRN3 (makorin ring finger protein 3)

2014-11-01  

Identity

HGNC
MKRN3
LOCATION
15q11.2
LOCUSID
7681
ALIAS
CPPB2,D15S9,RNF63,ZFP127,ZNF127

Other Information

Locus ID:

NCBI: 7681
MIM: 603856
HGNC: 7114
Ensembl: ENSG00000179455

Variants:

dbSNP: 7681
ClinVar: 7681
TCGA: ENSG00000179455
COSMIC: MKRN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179455ENST00000314520Q13064
ENSG00000179455ENST00000564592H3BPL3
ENSG00000179455ENST00000568252Q6NSB6
ENSG00000179455ENST00000568945A0A3B3ISD8
ENSG00000179455ENST00000647595A0A3B3IRN4
ENSG00000179455ENST00000649065A0A3B3IRU9

Expression (GTEx)

0
1
2
3
4
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381129112024MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.0
381129112024MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.0
357485572023The Key Roles of Makorin RING Finger Protein 3 (MKRN3) During the Development of Pubertal Initiation and Central Precocious Puberty (CPP).3
367282922023Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty.1
368832042023Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.1
369164822023Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.1
370925532023MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.4
357485572023The Key Roles of Makorin RING Finger Protein 3 (MKRN3) During the Development of Pubertal Initiation and Central Precocious Puberty (CPP).3
367282922023Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty.1
368832042023Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.1
369164822023Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.1
370925532023MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.4
358541822022MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.2
358541822022MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.2
332146752021Familial central precocious puberty: two novel MKRN3 mutations.5

Citation

Dessen P

MKRN3 (makorin ring finger protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70331