QRICH2 (glutamine rich 2)

2014-11-01  

Identity

HGNC
QRICH2
LOCATION
17q25.1
LOCUSID
84074
ALIAS
SPGF35
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84074
MIM: 618304
HGNC: 25326
Ensembl: ENSG00000129646

Variants:

dbSNP: 84074
ClinVar: 84074
TCGA: ENSG00000129646
COSMIC: QRICH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129646ENST00000262765Q9H0J4
ENSG00000129646ENST00000447564H7C0E3
ENSG00000129646ENST00000524722E9PPH7
ENSG00000129646ENST00000532549H0YDB9
ENSG00000129646ENST00000636395A0A1B0GW36

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
344153202021Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.14
344153202021Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.14
306838612019Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.59
312929492019Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.14
306838612019Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.59
312929492019Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.14

Citation

Dessen P

QRICH2 (glutamine rich 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72443/qrich2-(glutamine-rich-2)