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Aliases for SKA2 Gene

Aliases for SKA2 Gene

  • Spindle And Kinetochore Associated Complex Subunit 2 2 3 5
  • Family With Sequence Similarity 33, Member A 2 3
  • FAM33A 3 4
  • Spindle And Kinetochore-Associated Protein 2 3
  • Spindle And KT (Kinetochore) Associated 2 3
  • Protein FAM33A 4

External Ids for SKA2 Gene

Previous HGNC Symbols for SKA2 Gene

  • FAM33A

Previous GeneCards Identifiers for SKA2 Gene

  • GC17M054544
  • GC17M057188
  • GC17M052547

Summaries for SKA2 Gene

GeneCards Summary for SKA2 Gene

SKA2 (Spindle And Kinetochore Associated Complex Subunit 2) is a Protein Coding gene. Diseases associated with SKA2 include Post-Traumatic Stress Disorder. Among its related pathways are Mitotic Metaphase and Anaphase and Signaling by GPCR. GO annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot for SKA2 Gene

  • Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083). In the complex, it is required for SKA1 localization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SKA2 Gene

Genomics for SKA2 Gene

Regulatory Elements for SKA2 Gene

Enhancers for SKA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G059616 1.8 FANTOM5 ENCODE dbSUPER 27.3 -464.2 -464236 6.8 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SKA2 APPBP2 DHX40 PPM1E TRIM37 PRR11 TUBD1 RNFT1 YPEL2 VMP1
GH17G058679 1.4 Ensembl ENCODE 25.9 +475.8 475761 1.3 CREB3L1 AGO1 FEZF1 ZNF143 ZNF263 SP3 TBX21 MEF2D ZNF610 NBN TRIM37 SKA2 VEZF1 SRSF1 DHX40 RNF43 RNU1-85P RNU1-52P GC17M058680 GC17M058678
GH17G059781 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 14.5 -632.2 -632236 11.9 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 LOC101927755 DHX40 SKA2 RPS6KB1 LOC100996660 MIR21 RNU6-450P PPM1D TRIM37 VMP1
GH17G059564 1.2 ENCODE 25.9 -410.5 -410501 2.1 CREB3L1 YBX1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 NFYC MEF2D APPBP2 SKA2 DHX40 LOC100996660 NDUFB8P2 SMG8 TRIM37 GC17P059616
GH17G058630 1.5 ENCODE dbSUPER 18 +523.6 523558 2.6 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 TRIM37 RAD51C SKA2 TEX14 RNU1-108P VEZF1 MTMR4 SRSF1 DHX40 LOC105371842
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SKA2 on UCSC Golden Path with GeneCards custom track

Promoters for SKA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000283953 439 3601 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21

Genomic Location for SKA2 Gene

Chromosome:
17
Start:
59,109,947 bp from pter
End:
59,155,439 bp from pter
Size:
45,493 bases
Orientation:
Minus strand

Genomic View for SKA2 Gene

Genes around SKA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SKA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SKA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SKA2 Gene

Proteins for SKA2 Gene

  • Protein details for SKA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVK7-SKA2_HUMAN
    Recommended name:
    Spindle and kinetochore-associated protein 2
    Protein Accession:
    Q8WVK7
    Secondary Accessions:
    • A6NIL3
    • B3KPL3
    • E9PCB8

    Protein attributes for SKA2 Gene

    Size:
    121 amino acids
    Molecular mass:
    14188 Da
    Quaternary structure:
    • Component of the SKA1 complex, composed of SKA1, SKA2 and SKA3. Forms a heterodimer with SKA1; the heterodimer interacting with SKA3. The core SKA1 complex is composed of 2 SKA1-SKA2 heterodimers, each heterodimer interacting with a molecule of the SKA3 homodimer. The core SKA1 complex associates with microtubules and forms oligomeric assemblies. Interacts directly with SKA1. Binds directly to microtubules; but with a much lower affinity than SKA1. May interact with NR3C1; the relevance of such interaction remains unclear in vivo.

    Three dimensional structures from OCA and Proteopedia for SKA2 Gene

    Alternative splice isoforms for SKA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SKA2 Gene

Post-translational modifications for SKA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SKA2 Gene

Domains & Families for SKA2 Gene

Protein Domains for SKA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SKA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WVK7

UniProtKB/Swiss-Prot:

SKA2_HUMAN :
  • Belongs to the SKA2 family.
Family:
  • Belongs to the SKA2 family.
genes like me logo Genes that share domains with SKA2: view

No data available for Gene Families for SKA2 Gene

Function for SKA2 Gene

Molecular function for SKA2 Gene

UniProtKB/Swiss-Prot Function:
Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083). In the complex, it is required for SKA1 localization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020).

Gene Ontology (GO) - Molecular Function for SKA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17093495
GO:0008017 microtubule binding IEA,IDA 19289083
genes like me logo Genes that share ontologies with SKA2: view
genes like me logo Genes that share phenotypes with SKA2: view

Animal Models for SKA2 Gene

MGI Knock Outs for SKA2:
  • Ska2 tm1b(KOMP)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SKA2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SKA2 Gene

Localization for SKA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SKA2 Gene

Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner. Localizes to both the mitotic spindle and kinetochore-associated proteins. {ECO:0000269 PubMed:17093495, ECO:0000269 PubMed:19289083}.

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 SKA2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SKA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000940 condensed chromosome outer kinetochore IDA,IEA 17093495
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SKA2: view

Pathways & Interactions for SKA2 Gene

genes like me logo Genes that share pathways with SKA2: view

Pathways by source for SKA2 Gene

Gene Ontology (GO) - Biological Process for SKA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 19289083
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA,IMP 19289083
GO:0007062 sister chromatid cohesion TAS --
GO:0007067 mitotic nuclear division IMP --
genes like me logo Genes that share ontologies with SKA2: view

No data available for SIGNOR curated interactions for SKA2 Gene

Drugs & Compounds for SKA2 Gene

No Compound Related Data Available

Transcripts for SKA2 Gene

Unigene Clusters for SKA2 Gene

Spindle and kinetochore associated complex subunit 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SKA2

Alternative Splicing Database (ASD) splice patterns (SP) for SKA2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e · 5f · 5g
SP1: - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - - -
SP6: - - - -
SP7: - - -
SP8: - - - - -
SP9: - - - -

Relevant External Links for SKA2 Gene

GeneLoc Exon Structure for
SKA2
ECgene alternative splicing isoforms for
SKA2

Expression for SKA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SKA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SKA2 Gene

This gene is overexpressed in Adipocyte (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SKA2 Gene



Protein tissue co-expression partners for SKA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SKA2 Gene:

SKA2

SOURCE GeneReport for Unigene cluster for SKA2 Gene:

Hs.463607

Evidence on tissue expression from TISSUES for SKA2 Gene

  • Lung(4.3)
  • Eye(4.1)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with SKA2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SKA2 Gene

Orthologs for SKA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SKA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SKA2 34 35
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia SKA2 34 35
  • 91.46 (n)
cow
(Bos Taurus)
Mammalia SKA2 34 35
  • 89.53 (n)
mouse
(Mus musculus)
Mammalia Ska2 34 16 35
  • 86.11 (n)
rat
(Rattus norvegicus)
Mammalia LOC691962 34
  • 83.47 (n)
oppossum
(Monodelphis domestica)
Mammalia SKA2 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SKA2 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves SKA2 34 35
  • 65.53 (n)
lizard
(Anolis carolinensis)
Reptilia SKA2 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ska2 34
  • 60.87 (n)
zebrafish
(Danio rerio)
Actinopterygii im:7140390 34
  • 59.12 (n)
SKA2 35
  • 20 (a)
OneToOne
Species where no ortholog for SKA2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SKA2 Gene

ENSEMBL:
Gene Tree for SKA2 (if available)
TreeFam:
Gene Tree for SKA2 (if available)

Paralogs for SKA2 Gene

(3) SIMAP similar genes for SKA2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for SKA2 Gene

genes like me logo Genes that share paralogs with SKA2: view

No data available for Paralogs for SKA2 Gene

Variants for SKA2 Gene

Sequence variations from dbSNP and Humsavar for SKA2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000014474 -- 59,123,900(+) TGCTA(A/G)TAAGA intron-variant
rs1000042368 -- 59,115,073(+) TTTTT(A/G)ATTTT intron-variant
rs1000058127 -- 59,132,317(+) CACCA(C/T)TGCAC intron-variant
rs1000108990 -- 59,113,389(+) ATGGT(G/T)GTATG intron-variant
rs1000114973 -- 59,120,878(+) CCGGG(C/T)GCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SKA2 Gene

Variant ID Type Subtype PubMed ID
dgv3270n100 CNV gain 25217958
dgv3271n100 CNV gain 25217958
esv2758699 CNV gain 17122850
esv2761969 CNV loss 21179565
esv28194 CNV loss 19812545
esv3573764 CNV gain 25503493
esv990139 CNV deletion 20482838
nsv1065063 CNV gain 25217958
nsv575802 CNV loss 21841781
nsv833499 CNV loss 17160897

Variation tolerance for SKA2 Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SKA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SKA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKA2 Gene

Disorders for SKA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SKA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
post-traumatic stress disorder
  • traumatic neurosis
- elite association - COSMIC cancer census association via MalaCards
Search SKA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SKA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SKA2
genes like me logo Genes that share disorders with SKA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SKA2 Gene

Publications for SKA2 Gene

  1. The human kinetochore Ska1 complex facilitates microtubule depolymerization-coupled motility. (PMID: 19289083) Welburn J.P.I. … Cheeseman I.M. (Dev. Cell 2009) 2 3 4 64
  2. Identification and functional analysis of SKA2 interaction with the glucocorticoid receptor. (PMID: 18583474) Rice L. … Ray D.W. (J. Endocrinol. 2008) 2 3 4 64
  3. Timely anaphase onset requires a novel spindle and kinetochore complex comprising Ska1 and Ska2. (PMID: 17093495) Hanisch A. … Nigg E.A. (EMBO J. 2006) 2 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SKA2 Gene

  • Addgene plasmids for SKA2

Sources for SKA2 Gene

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