SEPTIN4 (septin 4)

Gene

• Entrez ID: 5414
• Gene name: Septin 4
• Gene symbol: SEPTIN4
• Synonyms (NCBI Gene): ARTS, BRADEION, C17orf47, CE5B3, H5, MART, PNUTL2, SEP4, SEPT4, SPGF99, Septin-4, hCDCREL-2, hucep-7
• Chromosome: 17
• Chromosome location: 17q22
• Summary: This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organiza

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IMP	17105210
GO:0001764	Process	Neuron migration	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IMP	17105210
GO:0003924	Function	GTPase activity	TAS	9889007
GO:0005198	Function	Structural molecule activity	TAS	9889007
GO:0005515	Function	Protein binding	IPI	17685441, 21185211, 21695558, 23479728, 25588830, 25775403, 29020630, 32296183, 32814053, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	17105210
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11146656
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	21695558
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	11146656
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IEA
GO:0005940	Component	Septin ring	IBA
GO:0006915	Process	Apoptotic process	NAS	11146656
GO:0007283	Process	Spermatogenesis	IEA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0017157	Process	Regulation of exocytosis	IBA
GO:0030133	Component	Transport vesicle	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	IDA	25588830
GO:0031105	Component	Septin complex	IMP	17105210
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	21185211
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032153	Component	Cell division site	IBA
GO:0042802	Function	Identical protein binding	IPI	17105210
GO:0042981	Process	Regulation of apoptotic process	NAS	11146656
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	21185211
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0045202	Component	Synapse	IEA
GO:0048515	Process	Spermatid differentiation	ISS
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061484	Process	Hematopoietic stem cell homeostasis	ISS
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:0097227	Component	Sperm annulus	IBA
GO:0097227	Component	Sperm annulus	IDA	25588830
GO:0098691	Component	Dopaminergic synapse	IDA	17296554
GO:0098793	Component	Presynapse	IDA	17296554
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	21185211

Other IDs

• MIM: 603696
• HGNC: 9165
• e!Ensembl: ENSG00000108387

Protein

• UniProt ID: O43236
• Protein name: Septin-4 (Bradeion beta) (Brain protein H5) (CE5B3 beta) (Cell division control-related protein 2) (hCDCREL-2) (Peanut-like protein 2)
• Protein function: Filament-forming cytoskeletal GTPase (Probable). Pro-apoptotic protein involved in LGR5-positive intestinal stem cell and Paneth cell expansion in the intestines, via its interaction with XIAP (By similarity). May also play a role in the regulat
• PDB: 6WB3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	141 → 421	Septin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Expressed in presynaptic terminals of dopaminergic neurons p
• Sequence:

  MDRSLGWQGNSVPEDRTEAGIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQ
  VPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSED
  DKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEE
  RIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDE
  SGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVD
  HKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRV
  RGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVV
  KERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY

• Sequence length: 478

Pathways

KEGG:

Apoptosis
Apoptosis - multiple species

Reactome:

Release of apoptotic factors from the mitochondria
SMAC, XIAP-regulated apoptotic response

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO ROUND-HEADED SPERMATOZOA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthenozoospermia	Associate	25301271	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Associate	15517578	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Associate	32626973	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	19454617	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	36742411	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	30231941	★☆☆☆☆ Found in Text Mining only
Influenza Human	Associate	25345603	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Associate	28791356	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	19383853, 24639349	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	15517578	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	30664621	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Stimulate	17203291	★☆☆☆☆ Found in Text Mining only
Tuberculosis Meningeal	Associate	38288122	★☆☆☆☆ Found in Text Mining only