ZNHIT3 (zinc finger HIT-type containing 3)

2014-11-01  

Identity

HGNC
ZNHIT3
LOCATION
17q12
LOCUSID
9326
ALIAS
Hit1,PEHO,TRIP3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9326
MIM: 604500
HGNC: 12309
Ensembl: ENSG00000273611

Variants:

dbSNP: 9326
ClinVar: 9326
TCGA: ENSG00000273611
COSMIC: ZNHIT3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000273611ENST00000612494A0A087WYI8
ENSG00000273611ENST00000616269A0A087WY54
ENSG00000273611ENST00000617429Q15649
ENSG00000273611ENST00000617429A0A024R0X8
ENSG00000273611ENST00000619730A0A087WY42
ENSG00000273611ENST00000620324Q15649
ENSG00000273611ENST00000620863A0A087X045
ENSG00000273611ENST00000622013A0A087X1G0
ENSG00000273611ENST00000622312A0A087WTR0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385992762024Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.0
385992762024Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.0
283350202017ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.9
283350202017ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.9
275946832016Structural Features of the Box C/D snoRNP Pre-assembly Process Are Conserved through Species.12
275946832016Structural Features of the Box C/D snoRNP Pre-assembly Process Are Conserved through Species.12
191499182009[Relationship between expression of GYPC and TRIP3 genes and prognosis of acute lymphoblastic leukemia in children].2
195966562009Nuclear receptor-coregulator interaction profiling identifies TRIP3 as a novel peroxisome proliferator-activated receptor gamma cofactor.31
191499182009[Relationship between expression of GYPC and TRIP3 genes and prognosis of acute lymphoblastic leukemia in children].2
195966562009Nuclear receptor-coregulator interaction profiling identifies TRIP3 as a novel peroxisome proliferator-activated receptor gamma cofactor.31

Citation

Dessen P

ZNHIT3 (zinc finger HIT-type containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/76467/znhit3-(zinc-finger-hit-type-containing-3)