SEPTIN4 (septin 4)

2007-02-01 Affiliation

Identity

HGNC

SEPTIN4

LOCATION

17q22

LOCUSID

5414

ALIAS

ARTS,BRADEION,C17orf47,CE5B3,H5,MART,PNUTL2,SEP4,SEPT4,hCDCREL-2,hucep-7

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: 5414
MIM: 603696
HGNC: 9165
Ensembl: ENSG00000108387

Variants:

dbSNP: 5414
ClinVar: 5414
TCGA: ENSG00000108387
COSMIC: SEPTIN4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108387	ENST00000317256	O43236
ENSG00000108387	ENST00000317268	O43236
ENSG00000108387	ENST00000321691	Q8NEP4
ENSG00000108387	ENST00000393086	O43236
ENSG00000108387	ENST00000412945	O43236
ENSG00000108387	ENST00000426861	O43236
ENSG00000108387	ENST00000457347	O43236
ENSG00000108387	ENST00000577729	J3QLR2
ENSG00000108387	ENST00000578131	J3KS85
ENSG00000108387	ENST00000579371	J3QRT6
ENSG00000108387	ENST00000580809	J3QRU3
ENSG00000108387	ENST00000580844	J3KSZ7
ENSG00000108387	ENST00000581607	J3QRS4
ENSG00000108387	ENST00000581615	J3KS26
ENSG00000108387	ENST00000583114	O43236
ENSG00000108387	ENST00000583291	J3QLA8

Pathways

Pathway	Source	External ID
Apoptosis	KEGG	ko04210
Apoptosis	KEGG	hsa04210
Apoptosis - multiple species	KEGG	ko04215
Apoptosis - multiple species	KEGG	hsa04215

References

Pubmed ID	Year	Title	Citations
36565718	2023	The ARTS of p53-dependent mitochondrial apoptosis.	9
36565718	2023	The ARTS of p53-dependent mitochondrial apoptosis.	9
36135717	2022	Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.	1
36135717	2022	Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.	1
33627621	2021	p53 induces ARTS to promote mitochondrial apoptosis.	15
33627621	2021	p53 induces ARTS to promote mitochondrial apoptosis.	15
31924572	2020	Role of WW domain E3 ubiquitin protein ligase 2 in modulating ubiquitination and Degradation of Septin4 in oxidative stress endothelial injury.	29
32626973	2020	Septin4 regulates endoplasmic reticulum stress and apoptosis in melatonin‑induced osteoblasts.	3
31924572	2020	Role of WW domain E3 ubiquitin protein ligase 2 in modulating ubiquitination and Degradation of Septin4 in oxidative stress endothelial injury.	29
32626973	2020	Septin4 regulates endoplasmic reticulum stress and apoptosis in melatonin‑induced osteoblasts.	3
28224479	2018	Modulation of ARTS and XIAP by Parkin Is Associated with Carnosic Acid Protects SH-SY5Y Cells against 6-Hydroxydopamine-Induced Apoptosis.	6
29366480	2018	Septin4 as a novel binding partner of PARP1 contributes to oxidative stress induced human umbilical vein endothelial cells injure.	10
29991349	2018	Untangling the Tauopathy for Alzheimer's disease and parkinsonism.	22
28224479	2018	Modulation of ARTS and XIAP by Parkin Is Associated with Carnosic Acid Protects SH-SY5Y Cells against 6-Hydroxydopamine-Induced Apoptosis.	6
29366480	2018	Septin4 as a novel binding partner of PARP1 contributes to oxidative stress induced human umbilical vein endothelial cells injure.	10

Citation

Dessen P

SEPTIN4 (septin 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46050/septin4-(septin-4)