• Gene id: 124404

Gene Summary

• Gene Symbol: Sep-12   Gene   UCSC   Ensembl
• Aliases: SPGF10
• Gene name: septin 12
• Alternate names: septin-12, testicular tissue protein Li 168,
• Gene location: 16p13.3 (4791609: 4777589)     Exons: 11     NC_000016.10
• Gene summary(Entrez): This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding di
• OMIM: 611562

SNPs

rs371195126

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs199696526

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: Q8IYM1  
  • Name: Septin 12
  • Length: 358  
  • Mass: 40,748
• Sequence:

  MDPLRRSPSPCLSSQPSSPSTPPCEMLGPVGIEAVLDQLKIKAMKMGFEFNIMVVGQSGLGKSTMVNTLFKSKVW
  KSNPPGLGVPTPQTLQLHSLTHVIEEKGVKLKLTVTDTPGFGDQINNDNCWDPILGYINEQYEQYLQEEILITRQ
  RHIPDTRVHCCVYFVPPTGHCLRPLDIEFLQRLCRTVNVVPVIARADSLTMEEREAFRRRIQQNLRTHCIDVYPQ
  MCFDEDINDKILNSKLRDRIPFAVVGADQEHLVNGRCVLGRKTKWGIIEVENMAHCEFPLLRDLLIRSHLQDLKD
  ITHNIHYENYRVIRLNESHLLPRGPGWVNLAPASPGQLTTPRTFKVCRGAHDDSDDEF

• Structural information:
  • Protein Domains: Septin-type (46-317)
  • Interpro: IPR030379  IPR027417  IPR016491  
  • Prosite: PS51719
  • CDD: cd01850
  • STRING: ENSP00000268231
• Other Databases: GeneCards:  Sep-12  Malacards:  Sep-12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001725	stress fiber	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	ISS	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005819	spindle	IDA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0019003	GDP binding	ISS	molecular function
GO:0030496	midbody	IDA	cellular component
GO:0031105	septin complex	ISS	cellular component
GO:0032154	cleavage furrow	ISS	cellular component
GO:0035091	phosphatidylinositol binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0097227	sperm annulus	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001725	stress fiber	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	ISS	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0019003	GDP binding	ISS	molecular function
GO:0030496	midbody	IDA	cellular component
GO:0031105	septin complex	ISS	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0032154	cleavage furrow	ISS	cellular component
GO:0035091	phosphatidylinositol binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0097227	sperm annulus	IDA	cellular component
GO:0001725	stress fiber	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	ISS	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005819	spindle	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0019003	GDP binding	ISS	molecular function
GO:0030496	midbody	IDA	cellular component
GO:0031105	septin complex	ISS	cellular component
GO:0032154	cleavage furrow	ISS	cellular component
GO:0035091	phosphatidylinositol binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0097227	sperm annulus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Azoospermia	MIK: 22116646
Teratozoospermia	MIK: 22479503
Defective sperm annulus	MIK: 22275165
Meiotic arrest	MIK: 22116646
Sertoli cell only syndrome (SCOS)	MIK: 21636737
Spermatogenesis defects	OMIM: 611562
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 22116646
Meiotic arrest	MIK: 22116646
Hypospermatogenesis	MIK: 28361989
Involved in mammalian spermiogenesis	MIK: 27854341
Male infertility with non-obstructive azoospermia	MIK: 30488758
Defective sperm annulus	MIK: 22275165
Non obstructive azoospermia	MIK: 24012201
Sertoli cell-only syndrome (SCOS)	MIK: 21636737
Severe spermatogenic defects	MIK: 30513371
Teratozoospermia	MIK: 17327269
Non obstructive azoospermia	MIK: 23869807
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22479503	Teratozoospermia, male infertility	c.474 G>A		360 (160 infertile men, 200 fertile controls)	Male infertility
22275165	Male infertility, defective sperm annulus	SEPT12 (c.266C>T/p.T89M and c.589G>A/p.D197N)			Male infertility	2019-09-12
22116646	Azoospermia, meiotic arrest	c.204G>C (Q38H)	Japanes e	170 (30 patients with azoospermia by meiotic arrest, 140 fertile male controls)	Male infertility	SEPTIN12
21636737	Sertoli cell-only syndrome (SCOS)	SEPTIN12 8 coding single-nucleotide polymorphisms (SNP1-SNP8)	Japanes e	240 (100 patients with SCOS, 140 healthy controlS)	Male infertility	SEPTIN12
30513371	Severe spermatogenic defects	rs759992?T?>?C and rs3827527?C?>?T			Male infertility
30488758	Male infertility with non-obstructive azoospermia	c.673C>A/p.Gln225Lys		200 patients with non-obstructive azoospermia	Male infertility
27854341	Involved in mammalian spermiogenesis, Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
32242295	Spermatogenic impairment	c.139 C>T, p.Gly47Arg rs1164594027, c.145 C>G, p.Glu49Gln rs1384271239, c.253 C>T, p.Pro85Ser rs1452958171 , c.638 T>C, p.Gln213Arg rs6500633	Caucasi an	1100 subjects	Male infertility
19359518	Spermiogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)