SPEN (spen family transcriptional repressor)

2003-05-01  

Identity

HGNC
LOCATION
1p36.21
LOCUSID
ALIAS
HIAA0929,MINT,RATARS,RBM15C,SHARP
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065526ENST00000375759Q96T58
ENSG00000065526ENST00000438066F6WRY4
ENSG00000065526ENST00000442985H0Y5U7

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
381645992024Dissection of protein and RNA regions required for SPEN binding to XIST A-repeat RNA.0
381645992024Dissection of protein and RNA regions required for SPEN binding to XIST A-repeat RNA.0
335964112021SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.35
335964112021SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.35
326416852020SPEN induces miR-4652-3p to target HIPK2 in nasopharyngeal carcinoma.13
326416852020SPEN induces miR-4652-3p to target HIPK2 in nasopharyngeal carcinoma.13
288777522017SPEN, a new player in primary cilia formation and cell migration in breast cancer.28
288777522017SPEN, a new player in primary cilia formation and cell migration in breast cancer.28
253811272015The NOTCH pathway is recurrently mutated in diffuse large B-cell lymphoma associated with hepatitis C virus infection.33
262977342015The Estrogen Receptor Cofactor SPEN Functions as a Tumor Suppressor and Candidate Biomarker of Drug Responsiveness in Hormone-Dependent Breast Cancers.31
253811272015The NOTCH pathway is recurrently mutated in diffuse large B-cell lymphoma associated with hepatitis C virus infection.33
262977342015The Estrogen Receptor Cofactor SPEN Functions as a Tumor Suppressor and Candidate Biomarker of Drug Responsiveness in Hormone-Dependent Breast Cancers.31
242686492014Structural insights into the recruitment of SMRT by the corepressor SHARP under phosphorylative regulation.15
247486662014The crystal structure of the Split End protein SHARP adds a new layer of complexity to proteins containing RNA recognition motifs.25
242686492014Structural 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/cancer-prone-explorer/js/lib/deep-insight-explorer/