HELQ (helicase, POLQ like)

2014-03-01  

Identity

HGNC
HELQ
LOCATION
4q21.23
LOCUSID
113510
ALIAS
HEL308
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 113510
MIM: 606769
HGNC: 18536
Ensembl: ENSG00000163312

Variants:

dbSNP: 113510
ClinVar: 113510
TCGA: ENSG00000163312
COSMIC: HELQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163312ENST00000295488Q8TDG4
ENSG00000163312ENST00000508591E3W982
ENSG00000163312ENST00000510985E3W980

Expression (GTEx)

0
5
10
15
20
25
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
385403912024A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.0
387204712024HELQ deficiency impairs the induction of primordial germ cell-like cells.0
385403912024A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.0
387204712024HELQ deficiency impairs the induction of primordial germ cell-like cells.0
367189392023Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing.3
377771522023Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.1
378973542023Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks.0
367189392023Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing.3
377771522023Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.1
378973542023Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks.0
334853492021HELQ and EGR3 expression correlate with IGHV mutation status and prognosis in chronic lymphocytic leukemia.3
346727752021Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.3
334853492021HELQ and EGR3 expression correlate with IGHV mutation status and prognosis in chronic lymphocytic leukemia.3
346727752021Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.3
295720312018Helicase POLQ-like (HELQ) as a novel indicator of platinum-based chemoresistance for epithelial ovarian cancer.8

Citation

Dessen P

HELQ (helicase, POLQ like)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53819/meetings/gene-fusions-explorer/js/lib/jquery-3.5.1.min.js