SPEN (spen family transcriptional repressor)

2003-05-01 Affiliation

Identity

HGNC

SPEN

LOCATION

1p36.21

LOCUSID

23013

ALIAS

HIAA0929,MINT,RATARS,RBM15C,SHARP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23013
MIM: 613484
HGNC: 17575
Ensembl: ENSG00000065526

Variants:

dbSNP: 23013
ClinVar: 23013
TCGA: ENSG00000065526
COSMIC: SPEN

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000065526	ENST00000375759	Q96T58
ENSG00000065526	ENST00000438066	F6WRY4
ENSG00000065526	ENST00000442985	H0Y5U7

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
38164599	2024	Dissection of protein and RNA regions required for SPEN binding to XIST A-repeat RNA.	0
38164599	2024	Dissection of protein and RNA regions required for SPEN binding to XIST A-repeat RNA.	0
33596411	2021	SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.	35
33596411	2021	SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.	35
32641685	2020	SPEN induces miR-4652-3p to target HIPK2 in nasopharyngeal carcinoma.	13
32641685	2020	SPEN induces miR-4652-3p to target HIPK2 in nasopharyngeal carcinoma.	13
28877752	2017	SPEN, a new player in primary cilia formation and cell migration in breast cancer.	28
28877752	2017	SPEN, a new player in primary cilia formation and cell migration in breast cancer.	28
25381127	2015	The NOTCH pathway is recurrently mutated in diffuse large B-cell lymphoma associated with hepatitis C virus infection.	33
26297734	2015	The Estrogen Receptor Cofactor SPEN Functions as a Tumor Suppressor and Candidate Biomarker of Drug Responsiveness in Hormone-Dependent Breast Cancers.	31
25381127	2015	The NOTCH pathway is recurrently mutated in diffuse large B-cell lymphoma associated with hepatitis C virus infection.	33
26297734	2015	The Estrogen Receptor Cofactor SPEN Functions as a Tumor Suppressor and Candidate Biomarker of Drug Responsiveness in Hormone-Dependent Breast Cancers.	31
24268649	2014	Structural insights into the recruitment of SMRT by the corepressor SHARP under phosphorylative regulation.	15
24748666	2014	The crystal structure of the Split End protein SHARP adds a new layer of complexity to proteins containing RNA recognition motifs.	25
24268649	2014	Structural insights into the recruitment of SMRT by the corepressor SHARP under phosphorylative regulation.	15

Citation

Dessen P

SPEN (spen family transcriptional repressor)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42285/gene-fusions/meetings/hgnc