SEPT12 Gene

Aliases
for SEPT12 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifer: GC16M004768

Summaries
for SEPT12 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for SEPT12 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000016.9  NT_010393.17  NC_018927.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT12

SEPT12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M004829:  view genomic region     (about GC identifiers)

Proteins
for SEPT12 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for SEPT12: NX_Q8IYM1

Explore proteomics data for SEPT12 at MOPED

Post-translational modifications: 

SEPT12 Human Recombinant Protein Products:

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	antibodies-online proteins for SEPT12 (5 products)
	antibodies-online peptides for SEPT12

SEPT12 Antibody Products:

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	antibodies-online antibodies for SEPT12 (27 products)

SEPT12 Assay Products:

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	antibodies-online kits for SEPT12 (8 products)

Domains /
Families
for SEPT12 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q8IYM1

Find genes that share domains with SEPT12           About GenesLikeMe

Function
for SEPT12 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

(inferred from 1 allele) (MGI details for Sept12)

genOway: Develop your customized and physiologically relevant rodent model for SEPT12

miRNA Products:		Block miRNA regulation of human, mouse, rat SEPT12 using miScript Target Protectors
		1 qRT-PCR Assays for microRNA that regulate SEPT12:
		hsa-miR-330-3p
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SEPT12
		Predesigned siRNA for gene silencing in human, mouse, rat SEPT12

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for SEPT12

Clone Products:		OriGene clones in human, mouse for SEPT12 (see all 9) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT12
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT12

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEPT12
		Browse ESI BIO Cell Lines and PureStem Progenitors for SEPT12

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT12

Localization
for SEPT12 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytoskeleton	5
cytosol	3
nucleus	2
extracellular	1
mitochondrion	1
peroxisome	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

Pathways & Interactions
for SEPT12 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for SEPT12 About     See pathways by source

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	SuperPath	Contained pathways About
1	Bacterial invasion of epithelial cells	Bacterial invasion of epithelial cells

1 Kegg Pathway  (Kegg details for SEPT12)

Bacterial invasion of epithelial cells

Gene Ontology (GO): 3 biological process terms:    About this table

Drugs & Compounds
for SEPT12 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for SEPT12 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for SEPT12 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SEPT12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACGATTCTGA

About this image

Testis (Reproductive System)
Mature Sertoli Cells Seminiferous Tubules
Kidney (Urinary System)
Metanephric Mesenchyme Cells Metanephric Mesenchyme

Primer Products:		OriGene qPCR primer pairs and template standards for SEPT12 OriGene qSTAR qPCR primer pairs in human, mouse for SEPT12
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEPT12
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		QuantiFast Probe-based Assays in human, mouse, rat SEPT12

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT12

Orthologs
for SEPT12 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for SEPT12 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for SEPT12 gene

SEPT3²  SEPT9²  SEPT14²  SEPT4²  SEPT1²  SEPT7²  ENSG00000270466²  SEPT6²  

SEPT11²  SEPT2²  SEPT10²  SEPT8²  SEPT5²  

14 SIMAP similar genes for SEPT12 using alignment to 6 protein entries:     SEP12_HUMAN (see all proteins):

SEPT3    SEPT9    SEPT1    Nbla02942    SEPT7    SEPT2

DKFZp686F17268    SEPT4    SEPT5    SEPT11    SEPT8    SEPT6

SEPT14    SEPT10

Find genes that share paralogs with SEPT12           About GenesLikeMe

Genomic Variants
for SEPT12 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SEPT12 (see all 468)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1996965261,2,,4		Spermatogenic failure 10 (SPGF10)4 --	4772442(+)	GCAGCA/GTCTGG	4	T M	mis1		0	--	--	--	--
VAR_0680984		Spermatogenic failure 10 (SPGF10)4	--	see VAR_068098	2	D N	mis4		0	--	--	--	--
rs1906530061,2		--	4763620(+)	AACCCA/GGGAGG	2	--	ds5001		0	--	--	--	--
rs80544011,2	C,F,A,H	--	4763638(+)	tgtagT/Cgagcc	2	--	ds5001		8		NA WA CSA	15
rs1824672341,2	C	--	4763658(+)	CCATCA/GCACTC	2	--	ds5001		0	--	--	--	--
rs1447451691,2		--	4763682(+)	AAGAGC/TGAAAC	2	--	ds5001		0	--	--	--	--
rs1467299551,2		--	4763716(+)	ACAAAA/CAAAAA	2	--	ds5001		0	--	--	--	--
rs1488456811,2	C	--	4763717(+)	CAAAAA/CAAAAA	2	--	ds5001		0	--	--	--	--
rs1871078361,2		--	4763773(+)	ACAAAA/CACATA	2	--	ds5001		0	--	--	--	--
rs735132441,2	C	--	4763796(+)	CAGTGG/TTAATC	2	--	ds5001		2		WA	120

HapMap Linkage Disequilibrium report for SEPT12 (4827670 - 4838522 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for SEPT12:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2422516	CNV	Deletion	17116639
nsv905248	CNV	Loss	21882294
nsv905250	CNV	Loss	21882294
dgv2590n71	CNV	Loss	21882294
dgv2589n71	CNV	Loss	21882294
esv26756	CNV	Gain+Loss	19812545

Human Gene Mutation Database (HGMD): SEPT12

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SEPT12

DNA2.0 Custom Variant and Variant Library Synthesis for SEPT12

Disorders / Diseases
for SEPT12 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for SEPT12 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Expression profiling the human septin gene family. (PubMed id 15915442)^{1, 2, 3} Hall P.A.... Russell S.E.H. (J. Pathol. 2005)
2. SEPT12 mutations cause male infertility with defective sperm annulus. (PubMed id 22275165)^{1, 2} Kuo Y.C.... Kuo P.L. (Hum. Mutat. 2012)
3. GTP binding is required for SEPT12 to form filaments and to interact with SEPT11. (PubMed id 18443421)^{1, 2} Ding X.... Yu L. (Mol. Cells 2008)
4. SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells. (PubMed id 18047794)^{1, 2} Ding X.... Yu L. (J. Biochem. Mol. Biol. 2007)
5. The septins. (PubMed id 14611653)^{1, 3} Kinoshita M. (Genome Biol. 2003)
6. Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men. (PubMed id 22116646)¹ Miyamoto T....Sengoku K. (J. Assist. Reprod. Genet. 2012)
7. SEPTIN12 genetic variants confer susceptibility to teratozoospermia. (PubMed id 22479503)¹ Lin Y.H....Kuo P.L. (PLoS ONE 2012)
8. Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (PubMed id 21636737)¹ Miyakawa H....Sengoku K. (J. Androl. 2012)
9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
10. The expression level of septin12 is critical for spermiogenesis. (PubMed id 19359518)¹ Lin Y.H....Kuo P.L. (Am. J. Pathol. 2009)

External Searches for SEPT12 gene

Genome Databases showing SEPT12 gene

Other Databases showing SEPT12 gene

Specialized Databases showing SEPT12 gene

Products
for SEPT12 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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