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Aliases for SEPT14 Gene

Aliases for SEPT14 Gene

  • Septin 14 2 3 5
  • Septin-14 3

External Ids for SEPT14 Gene

Previous GeneCards Identifiers for SEPT14 Gene

  • GC07M055829
  • GC07M055675
  • GC07M055862

Summaries for SEPT14 Gene

Entrez Gene Summary for SEPT14 Gene

  • SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]

GeneCards Summary for SEPT14 Gene

SEPT14 (Septin 14) is a Protein Coding gene. Diseases associated with SEPT14 include Gliosarcoma and Giant Cell Glioblastoma. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is SEPT10.

UniProtKB/Swiss-Prot for SEPT14 Gene

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

Additional gene information for SEPT14 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT14 Gene

Genomics for SEPT14 Gene

GeneHancer (GH) Regulatory Elements for SEPT14 Gene

Promoters and enhancers for SEPT14 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
GH07J055364 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.7 +496.6 496648 3.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 LANCL2 CALM1P2 LOC100130121 SUMF2 LOC100420540 CICP12 LOC101409255 CCNJP1 SEPT14P24 ENSG00000203462
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPT14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEPT14 gene promoter:
  • IRF-7A
  • Evi-1
  • HNF-1A
  • HNF-1
  • MAZR
  • LCR-F1
  • C/EBPalpha
  • HEN1
  • AREB6

Genomic Locations for SEPT14 Gene

Genomic Locations for SEPT14 Gene
chr7:55,793,544-55,862,789
(GRCh38/hg38)
Size:
69,246 bases
Orientation:
Minus strand
chr7:55,861,237-55,930,482
(GRCh37/hg19)
Size:
69,246 bases
Orientation:
Minus strand

Genomic View for SEPT14 Gene

Genes around SEPT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT14 Gene

Proteins for SEPT14 Gene

  • Protein details for SEPT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZU15-SEP14_HUMAN
    Recommended name:
    Septin-14
    Protein Accession:
    Q6ZU15
    Secondary Accessions:
    • A6NCC2
    • B4DXD6

    Protein attributes for SEPT14 Gene

    Size:
    432 amino acids
    Molecular mass:
    50025 Da
    Quaternary structure:
    • 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 SEPT9.
    SequenceCaution:
    • Sequence=BAC86412.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SEPT14 Gene

Post-translational modifications for SEPT14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEPT14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEPT14 Gene

Domains & Families for SEPT14 Gene

Gene Families for SEPT14 Gene

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

Protein Domains for SEPT14 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6ZU15

UniProtKB/Swiss-Prot:

SEP14_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 SEPT14: view

No data available for Suggested Antigen Peptide Sequences for SEPT14 Gene

Function for SEPT14 Gene

Molecular function for SEPT14 Gene

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

Phenotypes From GWAS Catalog for SEPT14 Gene

Gene Ontology (GO) - Molecular Function for SEPT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 17922164
GO:0005525 GTP binding IEA --
GO:0032947 protein-containing complex scaffold activity IBA --
genes like me logo Genes that share ontologies with SEPT14: view
genes like me logo Genes that share phenotypes with SEPT14: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPT14

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPT14 Gene

Localization for SEPT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT14 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with actin stress fibers.

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 SEPT14 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for SEPT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005940 septin ring IBA --
GO:0015630 microtubule cytoskeleton IBA --
GO:0031105 septin complex IBA --
genes like me logo Genes that share ontologies with SEPT14: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEPT14 Gene

Pathways & Interactions for SEPT14 Gene

SuperPathways for SEPT14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEPT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IBA --
GO:0000921 septin ring assembly IBA --
GO:0007049 cell cycle IEA --
GO:0034613 cellular protein localization IBA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SEPT14: view

No data available for Pathways by source and SIGNOR curated interactions for SEPT14 Gene

Drugs & Compounds for SEPT14 Gene

No Compound Related Data Available

Transcripts for SEPT14 Gene

mRNA/cDNA for SEPT14 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SEPT14 Gene

Septin 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPT14

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT14 Gene

No ASD Table

Relevant External Links for SEPT14 Gene

GeneLoc Exon Structure for
SEPT14
ECgene alternative splicing isoforms for
SEPT14

Expression for SEPT14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT14 Gene

mRNA differential expression in normal tissues according to GTEx for SEPT14 Gene

This gene is overexpressed in Testis (x47.1) and Pituitary (x5.2).

Protein differential expression in normal tissues from HIPED for SEPT14 Gene

This gene is overexpressed in Testis (46.2) and Ovary (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SEPT14 Gene



Protein tissue co-expression partners for SEPT14 Gene

SOURCE GeneReport for Unigene cluster for SEPT14 Gene:

Hs.453629

mRNA Expression by UniProt/SwissProt for SEPT14 Gene:

Q6ZU15-SEP14_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expression patterns with SEPT14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT14 Gene

Orthologs for SEPT14 Gene

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

Orthologs for SEPT14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT14 34 33
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT14 34 33
  • 86.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEPT14 34 33
  • 84.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept14 33
  • 79.02 (n)
mouse
(Mus musculus)
Mammalia Sept14 16 34 33
  • 78.87 (n)
oppossum
(Monodelphis domestica)
Mammalia SEPT14 34
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sep2 34
  • 59 (a)
OneToMany
Sep5 34
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-61 34
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 34
  • 31 (a)
OneToMany
Species where no ortholog for SEPT14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SEPT14 Gene

ENSEMBL:
Gene Tree for SEPT14 (if available)
TreeFam:
Gene Tree for SEPT14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPT14: view image

Paralogs for SEPT14 Gene

Variants for SEPT14 Gene

Sequence variations from dbSNP and Humsavar for SEPT14 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs185819537 uncertain-significance, not provided 55,844,652(-) T/C coding_sequence_variant, missense_variant
rs190406908 uncertain-significance, not provided 55,834,546(-) G/A/C coding_sequence_variant, missense_variant
rs1000035751 -- 55,837,514(-) A/G intron_variant
rs1000078598 -- 55,837,596(-) T/C intron_variant
rs1000256008 -- 55,832,147(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SEPT14 Gene

Variant ID Type Subtype PubMed ID
dgv1201e199 CNV deletion 23128226
esv2734425 CNV deletion 23290073
esv2734447 CNV deletion 23290073
esv2734448 CNV deletion 23290073
esv2734449 CNV deletion 23290073
esv2761334 CNV gain 21179565
esv28230 CNV gain+loss 19812545
esv3571867 CNV loss 25503493
esv3613248 CNV gain 21293372
esv3613252 CNV gain 21293372
esv3613254 CNV gain 21293372
nsv1019400 CNV gain 25217958
nsv1114941 CNV deletion 24896259
nsv1128317 CNV deletion 24896259
nsv469612 CNV loss 16826518
nsv510959 OTHER complex 20534489
nsv966928 CNV duplication 23825009
nsv970835 CNV duplication 23825009

Variation tolerance for SEPT14 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPT14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT14 Gene

Disorders for SEPT14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPT14 Gene - From: Orphanet

Disorder Aliases PubMed IDs
gliosarcoma
  • glioblastoma with sarcomatous component
giant cell glioblastoma
  • monstrocellular sarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPT14

genes like me logo Genes that share disorders with SEPT14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT14 Gene

Publications for SEPT14 Gene

  1. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PMID: 17922164) Peterson EA … Petty EM (Mammalian genome : official journal of the International Mammalian Genome Society 2007) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain. (PMID: 27115672) Rozenkrantz L … Orr-Urtreger A (Journal of molecular neuroscience : MN 2016) 3 58
  4. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. (PMID: 24939585) Fransen E … Friedman RA (European journal of human genetics : EJHG 2015) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for SEPT14 Gene

Sources for SEPT14 Gene

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