SEPT12

Identifiers

SEPT12, SPGF10, septin 12

External IDs

MGI: 1918339 HomoloGene: 69435 GeneCards: SEPT12

Gene location (Human)

Chr.	Chromosome 16 (human)^[1]

Band	No data available	Start	4,777,669 bp^[1]
Band	No data available	End	4,788,521 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 16 (mouse)^[2]

Band	No data available	Start	4,986,858 bp^[2]
Band	No data available	End	4,997,852 bp^[2]

Gene ontology
Molecular function	• nucleotide binding • GTP binding • protein binding • phosphatidylinositol binding • protein homodimerization activity • GDP binding • identical protein binding
Cellular component	• cytoplasm • microtubule cytoskeleton • perinuclear region of cytoplasm • sperm annulus • spindle • cell projection • midbody • cleavage furrow • motile cilium • cytoskeleton • cilium • stress fiber • septin complex • nucleus
Biological process	• cell cycle • cell division • sperm motility • spermatogenesis • cell differentiation
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


124404


71089

Ensembl


ENSG00000140623


ENSMUSG00000022542

UniProt


Q8IYM1


n/a

RefSeq (mRNA)


NM_001154458 NM_144605


NM_027669 NM_029374

RefSeq (protein)


NP_001147930 NP_653206


n/a

Location (UCSC)

Chr 16: 4.78 – 4.79 Mb

Chr 16: 4.99 – 5 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Septin 12 is a protein that in humans is encoded by the SEPT12 gene.^[5]

Function

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 different isoforms have been found for this gene.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000140623 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022542 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 "Entrez Gene: Septin 12".

Kuo PL, Chiang HS, Wang YY, Kuo YC, Chen MF, Yu IS, Teng YN, Lin SW, Lin YH (2013). "SEPT12-microtubule complexes are required for sperm head and tail formation". International Journal of Molecular Sciences. 14 (11): 22102–16. PMC 3856054 . PMID 24213608. doi:10.3390/ijms141122102.
Hall PA, Jung K, Hillan KJ, Russell SE (July 2005). "Expression profiling the human septin gene family". The Journal of Pathology. 206 (3): 269–78. PMID 15915442. doi:10.1002/path.1789.
Kinoshita M (2003). "The septins". Genome Biology. 4 (11): 236. PMC 329110 . PMID 14611653. doi:10.1186/gb-2003-4-11-236.
Ding X, Yu W, Liu M, Shen S, Chen F, Wan B, Yu L (November 2007). "SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells". Journal of Biochemistry and Molecular Biology. 40 (6): 973–8. PMID 18047794.
Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL (April 2012). "SEPT12 mutations cause male infertility with defective sperm annulus". Human Mutation. 33 (4): 710–9. PMID 22275165. doi:10.1002/humu.22028.
Miyakawa H, Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, Namiki M, Sengoku K (2012). "Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome". Journal of Andrology. 33 (3): 483–7. PMID 21636737. doi:10.2164/jandrol.110.012146.
Lin YH, Wang YY, Chen HI, Kuo YC, Chiou YW, Lin HH, Wu CM, Hsu CC, Chiang HS, Kuo PL (2012). "SEPTIN12 genetic variants confer susceptibility to teratozoospermia". PloS One. 7 (3): e34011. PMC 3316533 . PMID 22479503. doi:10.1371/journal.pone.0034011.
Lin YH, Lin YM, Wang YY, Yu IS, Lin YW, Wang YH, Wu CM, Pan HA, Chao SC, Yen PH, Lin SW, Kuo PL (May 2009). "The expression level of septin12 is critical for spermiogenesis". The American Journal of Pathology. 174 (5): 1857–68. PMC 2671274 . PMID 19359518. doi:10.2353/ajpath.2009.080955.
Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, Saijo Y, Sengoku K (January 2012). "Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men". Journal of Assisted Reproduction and Genetics. 29 (1): 47–51. PMC 3252415 . PMID 22116646. doi:10.1007/s10815-011-9679-5.

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SEPT12

Function

References

Further reading