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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SEPT12 Gene

protein-coding GIFtS: 49
GCID: GC16M004829

Septin 12

See related diseases
at

MalaCards

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

Aliases
Septin 12¹ ²
SPGF10²
septin-12²

External Ids:	HGNC: 26348¹	Entrez Gene: 124404²	Ensembl: ENSG00000140623⁷	OMIM: 611562⁵	UniProtKB: Q8IYM1³

Export aliases for SEPT12 gene to outside databases

Previous GC identifer: GC16M004768

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SEPT12 Gene:

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. (provided by RefSeq, Oct 2011)

GeneCards Summary for SEPT12 Gene:

SEPT12 (septin 12) is a protein-coding gene. Diseases associated with SEPT12 include spermatogenic failure 10, and sertoli cell-only syndrome. GO annotations related to this gene include phosphatidylinositol binding and protein homodimerization activity. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1

Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.2 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SEPT12 gene promoter:
COUP-TF1 COUP HNF-4alpha1 E47 PPAR-gamma1 COUP-TF FOXO4 Hand1 PPAR-gamma2 MRF-2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SEPT12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT12

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

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

GeneLoc information about chromosome 16 GeneLoc Exon Structure

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

Start:	4,827,670 bp from pter	End:	4,838,522 bp from pter
Size:	10,853 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1 (See protein sequence)

Recommended Name: Septin-12

Size: 358 amino acids; 40748 Da

Subunit: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with

cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By

similarity). Interacts with SEPT6 and SEPT11. Forms homodimers

Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cell projection,

cilium, flagellum. Note=At interphase, forms a filamentous structure in the cytoplasm. During anaphase,

translocates to the central spindle region and to the midbody during cytokinesis. Found in the sperm annulus

Sequence caution: Sequence=AAH24017.1; Type=Erroneous initiation;

Secondary accessions: Q0P6B0 Q1PBH0 Q96LL0

Alternative splicing: 2 isoforms: Q8IYM1-1 Q8IYM1-2

Explore the universe of human proteins at neXtProt for SEPT12: NX_Q8IYM1

Explore proteomics data for SEPT12 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8IYM1

SEPT12 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001147930.1 NP_653206.2

ENSEMBL proteins:

ENSP00000464775 ENSP00000379922 ENSP00000268231 ENSP00000467237 ENSP00000468601

ENSP00000467281

Human Recombinant Protein Products for SEPT12:

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	Novus Biologicals SEPT12 Proteins Novus Biologicals SEPT12 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	ISS	--
GO:0005819	spindle	IDA	18047794
GO:0015630	microtubule cytoskeleton	IDA	--
GO:0016021	integral to membrane	--	--
GO:0030496	midbody	IDA	18047794

SEPT12 for ontologies About GeneDecksing

SEPT12 Antibody Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

SEPT: Septins

3 InterPro protein domains:

IPR000038 Cell_div_GTP-bd

IPR027417 P-loop_NTPase

IPR016491 Septin

Graphical View of Domain Structure for InterPro Entry Q8IYM1

ProtoNet protein and cluster: Q8IYM1

1 Blocks protein domain: IPB000038 Cell division/GTP binding protein

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1

Similarity: Belongs to the septin family

SEPT12 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SEP12_HUMAN, Q8IYM1

Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003677	DNA binding	--	--
GO:0005515	protein binding	IPI	18047794
GO:0005524	ATP binding	--	--
GO:0005525	GTP binding	ISS	--

SEPT12 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Sept12):

cellular

endocrine/exocrine gland

reproductive system

SEPT12 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Sept12^tm1.1Plk for SEPT12

inGenious Targeting Laboratory - Custom generated mouse model solutions for SEPT12

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SEPT12

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT12

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT12

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT12
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SEPT12:
		hsa-miR-330-3p
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for SEPT12
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SEPT12
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		GenScript Custom all cDNA clones Services for SEPT12
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT12
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEPT12
		Search LifeMap BioReagents cell lines for SEPT12

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT12

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SEPT12 About

See pathways by source

SuperPath

Contained pathways About

Bacterial invasion of epithelial cells

Bacterial invasion of epithelial cells

Pathways by source See SuperPaths
Show all pathways

1 Kegg Pathway (Kegg details for SEPT12):

Bacterial invasion of epithelial cells

SEPT12 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SEPT12

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for SEPT12 (Q8IYM1^{1, 3} ENSP00000268231⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SEPT6	Q14141¹^,³, ENSP00000341524⁴	EBI-2585067,EBI-745901 I2D: score=1 STRING: ENSP00000341524
SEPT1	ENSP00000324511⁴	STRING: ENSP00000324511
SEPT10	ENSP00000380824⁴	STRING: ENSP00000380824
SEPT11	ENSP00000264893⁴	STRING: ENSP00000264893
SEPT14	ENSP00000373627⁴	STRING: ENSP00000373627

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007049	cell cycle	IEA	--
GO:0007059	chromosome segregation	--	--
GO:0051301	cell division	IEA	--

SEPT12 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SEPT12 (SEP12)

Search CenterWatch for drugs/clinical trials and news about SEPT12 / SEP12

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SEPT12 gene (2 alternative transcripts):

NM_001154458.2 NM_144605.4

Unigene Cluster for SEPT12:

Septin 12

Hs.126780 [show with all ESTs]

Unigene Representative Sequence: EF620906

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000588241 ENST00000396693(uc002cxq.3 uc002cxr.3 uc010bty.3)

ENST00000268231 ENST00000587603 ENST00000590741 ENST00000591861 ENST00000590303

ENST00000591624

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT12
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SEPT12:
		hsa-miR-330-3p
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for SEPT12
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Primer Products:		OriGene qPCR primer pairs and template standards for SEPT12 OriGene qSTAR qPCR primer pairs in human, mouse for SEPT12
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SEPT12
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPT12
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT12

Additional mRNA sequence:

AK058139.1 AK098718.1 BC024017.1 BC035619.1 DQ456996.1 DQ517531.1 EF620906.1

3 DOTS entries:

DT.95367332 DT.97807255 DT.120686226

24/27 AceView cDNA sequences (see all 27):

BC035619 AI393577 AI554914 BI829633 AA382830 BI832349 AK058139 AI797580

AK098718 AA913452 BG719750 BI830266 BI830976 NM_144605 BI520378 AI018797

BM564067 AW137847 BP370735 BC024017 AA448485 AI890919 BF222811 AI809012

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SEPT12 About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12
SP1:					-				-						-								-
SP2:					-				-						-
SP3:					-				-
SP4:															-
SP5:

ECgene alternative splicing isoforms for SEPT12

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SEPT12 expression in normal human tissues (normalized intensities) SEPT12 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACGATTCTGA

About this image

SEPT12 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/2 selected tissues (see all 2) fully expand


Kidney (Urinary System)
Metanephric Mesenchyme Cells Metanephric Mesenchyme

Testis (Reproductive System)

See SEPT12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SEPT12

SOURCE GeneReport for Unigene cluster: Hs.126780

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1

Tissue specificity: Widely expressed

SABiosciences Custom PCR Arrays for SEPT12

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT12

(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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT12 gene from 8/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sept12^{1 , 5}	septin 12^{1, 5}	85.63(n)¹ 87.73(a)¹		16 (2.49 cM)⁵ 71089¹ NM_029374.1¹ NP_083650.1¹ 4986858⁵
chicken (Gallus gallus)	Aves	SEPT12¹	septin 12	74.71(n) 71.79(a)		416408 XM_003642160.1 XP_003642208.1
lizard (Anolis carolinensis)	Reptilia	SEPT12⁶	septin 12	64(a)	1 ↔ 1	GL343811.1(5474-55951)
African clawed frog (Xenopus laevis)	Amphibia	BC057732.1²	--	76.05(n)		BC057732.1
zebrafish (Danio rerio)	Actinopterygii	wu:fe23c11¹	wu:fe23c11	66.88(n) 66.99(a)		564600 XM_687930.3 XP_693022.3
fruit fly (Drosophila melanogaster)	Insecta	Sep5⁶ Sep2⁶	Septin-2	27(a) 27(a)	possible ortholog possible ortholog	2R(3847638-3849427) 3R(16411851-16414085)
worm (Caenorhabditis elegans)	Secernentea	unc-61⁶	Protein UNC-61, isoform a	22(a)	possible ortholog	V(14731095-14734237)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CDC3⁶	Component of the septin ring that is required for ...	23(a)	1 → many	XII(762575-764137)

ENSEMBL Gene Tree for SEPT12 (if available)
TreeFam Gene Tree for SEPT12 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

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

SEPT12 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_068098⁴		Spermatogenic failure 10 (SPGF10)⁴	--	see VAR_068098	2	D N	mis⁴		0	--	--	--	--
rs199696526^1,2,4		Spermatogenic failure 10 (SPGF10)⁴ --	4772442(+)	`GCAGCA/GTCTGG`	4	T M	mis¹		0	--	--	--	--
rs190653006^1,2		--	4763620(+)	`AACCCA/GGGAGG`	2	--	ds500¹		0	--	--	--	--
rs8054401^1,2	C,F,A,H	--	4763638(+)	`tgtagT/Cgagcc`	2	--	ds500¹		8		NA WA CSA	15
rs182467234^1,2	C	--	4763658(+)	`CCATCA/GCACTC`	2	--	ds500¹		0	--	--	--	--
rs144745169^1,2		--	4763682(+)	`AAGAGC/TGAAAC`	2	--	ds500¹		0	--	--	--	--
rs146729955^1,2		--	4763716(+)	`ACAAAA/CAAAAA`	2	--	ds500¹		0	--	--	--	--
rs148845681^1,2	C	--	4763717(+)	`CAAAAA/CAAAAA`	2	--	ds500¹		0	--	--	--	--
rs187107836^1,2		--	4763773(+)	`ACAAAA/CACATA`	2	--	ds500¹		0	--	--	--	--
rs73513244^1,2	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

SABiosciences Cancer Mutation PCR Assays

SeqTarget long-range PCR primers for resequencing SEPT12

DNA2.0 Custom Variant and Variant Library Synthesis for SEPT12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 611562 OMIM disorders: --

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1

Spermatogenic failure 10 (SPGF10) [MIM:614822]: An infertility disorder caused by spermatogenesis

defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most

prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal

piece of the sperm tail. Note=The disease is caused by mutations affecting the gene represented in this entry

5 diseases for SEPT12: About MalaCards

spermatogenic failure 10 sertoli cell-only syndrome male infertility azoospermia

infertility

SEPT12 for disorders About GeneDecksing

Export disorders for SEPT12 gene to outside databases

(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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PubMed articles for SEPT12 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with SEPT12)

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Expression profiling the human septin gene family. (PubMed id 15915442)^{1, 2, 3} Hall P.A....Russell S.E. (2005)
SEPT12 mutations cause male infertility with defective sperm annulus. (PubMed id 22275165)^{1, 2} Kuo Y.C.... Kuo P.L. (2012)
GTP binding is required for SEPT12 to form filaments and to interact with SEPT11. (PubMed id 18443421)^{1, 2} Ding X.... Yu L. (2008)
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. (2007)
The septins. (PubMed id 14611653)^{1, 3} Kinoshita M. (2003)
Single nucleotide polymorphisms in the SEPTIN12 gene m ay be associated with azoospermia by meiotic arrest in Japanese men. (PubMed id 22116646)¹ Miyamoto T....Sengoku K. (2012)
SEPTIN12 genetic variants confer susceptibility to ter atozoospermia. (PubMed id 22479503)¹ Lin Y.H....Kuo P.L. (2012)
Single-nucleotide polymorphisms in the SEPTIN12 gene m ay be a genetic risk factor for Japanese patients with Sertoli cell-only syndrom e. (PubMed id 21636737)¹ Miyakawa H....Sengoku K. (2012)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
The expression level of septin12 is critical for spermiogenesis. (PubMed id 19359518)¹ Lin Y.H....Kuo P.L. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 124404	HGNC: 26348	AceView: FLJ25410	Ensembl:ENSG00000140623	euGenes: HUgn124404
ECgene: SEPT12	Kegg: 124404	H-InvDB: SEPT12

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SEPT12	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SEPT12 gene
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Patent Information for SEPT12 gene:
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