This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic m... See more...

Aliases for SEPTIN7 Gene

Aliases for SEPTIN7 Gene

  • Septin 7 2 3 5
  • CDC10 Protein Homolog 3 4
  • Septin-7 3 4
  • CDC10 3 4
  • SEPT7 3 4
  • CDC10 (Cell Division Cycle 10, S. Cerevisiae, Homolog) 3
  • CDC10 Cell Division Cycle 10 Homolog (S. Cerevisiae) 2
  • Septin 7 Variant 4 3
  • NBLA02942 3
  • SEPT7A 3
  • CDC3 3

External Ids for SEPTIN7 Gene

Previous HGNC Symbols for SEPTIN7 Gene

  • CDC10
  • SEPT7

Previous GeneCards Identifiers for SEPTIN7 Gene

  • GC07P035804
  • GC07P035816

Summaries for SEPTIN7 Gene

Entrez Gene Summary for SEPTIN7 Gene

  • This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]

GeneCards Summary for SEPTIN7 Gene

SEPTIN7 (Septin 7) is a Protein Coding gene. Diseases associated with SEPTIN7 include Amyotrophic Neuralgia and Brachial Plexus Neuropathy. Among its related pathways are RET signaling and Signaling by GPCR. An important paralog of this gene is SEPTIN2.

UniProtKB/Swiss-Prot Summary for SEPTIN7 Gene

  • Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).

Gene Wiki entry for SEPTIN7 Gene

Additional gene information for SEPTIN7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN7 Gene

Genomics for SEPTIN7 Gene

GeneHancer (GH) Regulatory Elements for SEPTIN7 Gene

Promoters and enhancers for SEPTIN7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J035799 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.5 +0.6 599 4.9 FOXK2 HNRNPK ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G HERPUD2 SEPTIN7 ENSG00000228878 SEPTIN7-DT ANLN ENSG00000271122 SEPTIN7P3 piR-43103-056
GH07J035879 Promoter 0.3 EPDnew 500.2 +78.9 78903 0.1 SEPTIN7 piR-57266-002 HSALNG0057235
GH07J035906 Enhancer 0.9 Ensembl ENCODE 20.8 +105.5 105469 2.4 CTCF REST RAD21 TRIM22 SMC3 POLR2A ZNF207 RBM22 SMARCA5 ZNF511 SEPTIN7 ENSG00000228878 ENSG00000271122 piR-37097-102 piR-57266-002
GH07J035823 Enhancer 0.8 Ensembl dbSUPER 21.1 +26.3 26269 10.8 TEAD1 FOXA2 NR2F2 NFIC FOS JUND GATA3 SCRT1 BCL6 HOMEZ SEPTIN7 ENSG00000228878 ENSG00000271122 piR-43103-056 ENSG00000274328
GH07J035724 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12 -73.1 -73097 7 CTCF SIN3A SP1 EP300 JUND RELA MEF2C RCOR1 RAD21 TRIM22 HERPUD2 ENSG00000228878 SEPTIN7 ENSG00000271122 LOC100506725 ENSG00000227544 piR-39341-351
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN7

Genomic Locations for SEPTIN7 Gene

Genomic Locations for SEPTIN7 Gene
chr7:35,800,932-35,915,763
(GRCh38/hg38)
Size:
114,832 bases
Orientation:
Plus strand
chr7:35,840,542-35,944,917
(GRCh37/hg19)
Size:
104,376 bases
Orientation:
Plus strand

Genomic View for SEPTIN7 Gene

Genes around SEPTIN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN7 Gene

Proteins for SEPTIN7 Gene

  • Protein details for SEPTIN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16181-SEPT7_HUMAN
    Recommended name:
    Septin-7
    Protein Accession:
    Q16181
    Secondary Accessions:
    • Q52M76
    • Q6NX50

    Protein attributes for SEPTIN7 Gene

    Size:
    437 amino acids
    Molecular mass:
    50680 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPTIN2, SEPTIN6 and SEPTIN7 that associate head-to-head to form a hexameric unit. Within the trimer, directly interacts with SEPTIN6, while interaction with SEPTIN2 seems indirect. In the absence of SEPTIN6, forms homodimers. Interacts directly with CENPE and links CENPE to septin filaments composed of SEPTIN2, SEPTIN6 and SEPTIN7. Interacts with SEPTIN5 and SEPTIN8 (By similarity). Interacts with SEPTIN9 and SEPTIN11. Component of a septin core octomeric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus; the SEPTIN12:SEPTIN7 association is mediated by the respective GTP-binding domains (PubMed:25588830).
    Miscellaneous:
    • Coordinated expression with SEPTIN2 and SEPTIN6.
    SequenceCaution:
    • Sequence=AAB31337.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH67264.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH93640.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH93642.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPTIN7 Gene

    Alternative splice isoforms for SEPTIN7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN7 Gene

Post-translational modifications for SEPTIN7 Gene

  • Ubiquitination at Lys89, Lys298, and Lys313
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEPTIN7 Gene

Domains & Families for SEPTIN7 Gene

Gene Families for SEPTIN7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEPTIN7 Gene

Blocks:
  • Cell division/GTP binding protein
  • Septin 7 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SEPTIN7 Gene

GenScript: Design optimal peptide antigens:
  • Predicted protein product of Nbla02942 (Q3LIE9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16181

UniProtKB/Swiss-Prot:

SEPT7_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPTIN7: view

Function for SEPTIN7 Gene

Molecular function for SEPTIN7 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).

Phenotypes From GWAS Catalog for SEPTIN7 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA 21873635
GO:0005198 structural molecule activity TAS 8037772
GO:0005515 protein binding IPI 11584266
GO:0005525 GTP binding IEA --
GO:0042802 identical protein binding IPI 22064074
genes like me logo Genes that share ontologies with SEPTIN7: view
genes like me logo Genes that share phenotypes with SEPTIN7: view

Animal Models for SEPTIN7 Gene

MGI Knock Outs for SEPTIN7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPTIN7 Gene

Localization for SEPTIN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN7 Gene

Cytoplasm. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Midbody. Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, flagellum. Note=Distributed throughout the cytoplasm in prometaphase cells. Associated with the spindle during metaphase. Associated with the central spindle and at the cleavage furrow in anaphase cells. Detected at the midbody in telophase. Associated with actin stress fibers (By similarity). Found in the sperm annulus (PubMed:25588830). {ECO:0000250, ECO:0000269 PubMed:25588830}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPTIN7 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Cytosol (3)
  • Midbody (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPTIN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0001725 stress fiber IDA 15485874
GO:0005634 nucleus IDA 15485874
genes like me logo Genes that share ontologies with SEPTIN7: view

Pathways & Interactions for SEPTIN7 Gene

PathCards logo

SuperPathways for SEPTIN7 Gene

genes like me logo Genes that share pathways with SEPTIN7: view

Pathways by source for SEPTIN7 Gene

1 KEGG pathway for SEPTIN7 Gene
2 Qiagen pathways for SEPTIN7 Gene
  • Rho Family GTPases
  • RhoA Pathway

SIGNOR curated interactions for SEPTIN7 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPTIN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007283 spermatogenesis IEA --
GO:0016476 regulation of embryonic cell shape ISS --
GO:0030154 cell differentiation IEA --
GO:0030336 negative regulation of cell migration IDA 23383034
genes like me logo Genes that share ontologies with SEPTIN7: view

Drugs & Compounds for SEPTIN7 Gene

No Compound Related Data Available

Transcripts for SEPTIN7 Gene

mRNA/cDNA for SEPTIN7 Gene

5 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN7 Gene

No ASD Table

Relevant External Links for SEPTIN7 Gene

GeneLoc Exon Structure for
SEPTIN7

Expression for SEPTIN7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN7

SOURCE GeneReport for Unigene cluster for SEPTIN7 Gene:

Hs.191346

mRNA Expression by UniProt/SwissProt for SEPTIN7 Gene:

Q16181-SEPT7_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SEPTIN7 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Lung(4.6)
  • Kidney(4.5)
  • Skin(4.2)
  • Blood(3.9)
  • Intestine(3.6)
  • Spleen(3.4)
  • Heart(2.9)
  • Eye(2.8)
  • Pancreas(2.3)
  • Muscle(2.1)
  • Lymph node(2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN7 Gene

Orthologs for SEPTIN7 Gene

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

Orthologs for SEPTIN7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDC10 31
  • 100 (a)
OneToOne
SEPT7 30
  • 96.41 (n)
chimpanzee
(Pan troglodytes)
Mammalia SEPT7 31 30
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT7 31 30
  • 96.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sept7 31 30
  • 95.04 (n)
OneToOne
Septin7 17
oppossum
(Monodelphis domestica)
Mammalia SEPT7 31
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept7 30
  • 94.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT7 31
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT7 31 30
  • 89.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT7 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept7 30
  • 84.21 (n)
Str.11506 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21677 30
zebrafish
(Danio rerio)
Actinopterygii SEPT7 31
  • 89 (a)
OneToOne
hm:zeh0351 30
  • 77.91 (n)
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007596 30
  • 62.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta pnut 31 30
  • 61.82 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-59 31 30
  • 53.58 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04114g 30
  • 54.08 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 33 30
  • 53.19 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR111C 30
  • 49.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn1 30
  • 53.18 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08297 30
  • 52.88 (n)
Species where no ortholog for SEPTIN7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEPTIN7 Gene

ENSEMBL:
Gene Tree for SEPTIN7 (if available)
TreeFam:
Gene Tree for SEPTIN7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN7: view image

Paralogs for SEPTIN7 Gene

Variants for SEPTIN7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN7 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
769709 Benign: not provided 35,903,153(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SEPTIN7 Gene

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN7 Gene

Variant ID Type Subtype PubMed ID
dgv6321n100 CNV gain 25217958
esv2479660 CNV deletion 19546169
esv2734247 CNV deletion 23290073
esv2734248 CNV deletion 23290073
esv2759522 CNV gain 17122850
esv2761150 CNV gain 21179565
esv3612822 CNV gain 21293372
nsv1025977 CNV loss 25217958
nsv469590 CNV gain 16826518
nsv477768 CNV novel sequence insertion 20440878
nsv966777 CNV duplication 23825009
nsv966778 CNV duplication 23825009
nsv970816 CNV duplication 23825009

Additional Variant Information for SEPTIN7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SEPTIN7 Gene

Disorders for SEPTIN7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SEPTIN7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuropathy
  • brachial plexopathy
epidural neoplasm
  • extradural tumor
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPTIN7

genes like me logo Genes that share disorders with SEPTIN7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN7 Gene

Publications for SEPTIN7 Gene

  1. Structural analysis of septin 2, 6, and 7 complexes. (PMID: 16914550) Low C … Macara IG (The Journal of biological chemistry 2006) 3 4 23 54
  2. Molecular cloning of a novel human cDNA homologous to CDC10 in Saccharomyces cerevisiae. (PMID: 8037772) Nakatsuru S … Nakamura Y (Biochemical and biophysical research communications 1994) 2 3 4 54
  3. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. (PMID: 25588830) Kuo YC … Kuo PL (Journal of cell science 2015) 3 4 54
  4. Septin 7 interacts with centromere-associated protein E and is required for its kinetochore localization. (PMID: 18460473) Zhu M … Yao X (The Journal of biological chemistry 2008) 3 4 54
  5. Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7. (PMID: 17803907) Kremer BE … Macara IG (Cell 2007) 3 4 54

Products for SEPTIN7 Gene

Sources for SEPTIN7 Gene