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
  • Spindle And Kinetochore-Associated Protein 2 3 4
  • FAM33A 3 4
  • Spindle And KT (Kinetochore) Associated 2 3
  • Protein FAM33A 4
  • FLJ12758 2
  • SKA2 5

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 and Mulibrey Nanism. Among its related pathways are Signaling by GPCR and Mitotic Prometaphase. Gene Ontology (GO) annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SKA2 Gene

Genomics for SKA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SKA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SKA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SKA2

Genomic Locations for SKA2 Gene

Genomic Locations for SKA2 Gene
chr17:59,109,857-59,155,260
(GRCh38/hg38)
Size:
45,404 bases
Orientation:
Minus strand
chr17:57,187,308-57,232,800
(GRCh37/hg19)
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

Antibody Products

  • Abcam antibodies for SKA2
  • Santa Cruz Biotechnology (SCBT) Antibodies for SKA2

No data available for DME Specific Peptides for SKA2 Gene

Domains & Families for SKA2 Gene

Gene Families for SKA2 Gene

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

Protein Domains for SKA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SKA2 Gene

GenScript: Design optimal peptide antigens:
  • Family with sequence similarity 33 member A (C0KZE1_HUMAN)
  • Protein FAM33A (SKA2_HUMAN)

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

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).

Phenotypes From GWAS Catalog for SKA2 Gene

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 Ska2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 3
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SKA2 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:0000940 condensed chromosome outer kinetochore IEA,IDA 17093495
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SKA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SKA2 Gene

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:0031110 regulation of microtubule polymerization or depolymerization IDA 19289083
GO:0051301 cell division IEA,IMP 17093495
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

mRNA/cDNA for SKA2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 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 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

Expression for SKA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SKA2 Gene



Protein tissue co-expression partners for SKA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SKA2

SOURCE GeneReport for Unigene cluster for SKA2 Gene:

Hs.463607

Evidence on tissue expression from TISSUES for SKA2 Gene

  • Lung(4.5)
  • Eye(4.1)
  • Nervous system(3.9)
  • Adrenal gland(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with SKA2: view

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 30 31
  • 98.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SKA2 30 31
  • 91.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SKA2 30 31
  • 89.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ska2 30 17 31
  • 86.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ska2 30
  • 83.47 (n)
Oppossum
(Monodelphis domestica)
Mammalia SKA2 31
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SKA2 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SKA2 30 31
  • 65.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SKA2 31
  • 39 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ska2 30
  • 60.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii im:7140390 30
  • 59.12 (n)
SKA2 31
  • 20 (a)
OneToOne
Species where no ortholog for SKA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SKA2: view image

Paralogs for SKA2 Gene

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

  • SKA2_HUMAN
  • J3KRW9_HUMAN
  • J3KRZ0_HUMAN
  • J3KSP0_HUMAN
  • J3KTC5_HUMAN
  • J3QKN8_HUMAN
  • J3QL03_HUMAN
  • J3QS74_HUMAN

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

Additional dbSNP identifiers (rs#s) for SKA2 Gene

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)

Additional Variant Information for SKA2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SKA2 Gene

Disorders for SKA2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
post-traumatic stress disorder
  • traumatic neurosis
mulibrey nanism
  • muscle-liver-brain-eye nanism
- elite association - COSMIC cancer census association via MalaCards
Search SKA2 in MalaCards View complete list of genes associated with diseases
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 JP … Cheeseman IM (Developmental cell 2009) 2 3 4
  2. Identification and functional analysis of SKA2 interaction with the glucocorticoid receptor. (PMID: 18583474) Rice L … Ray DW (The Journal of endocrinology 2008) 2 3 4
  3. Timely anaphase onset requires a novel spindle and kinetochore complex comprising Ska1 and Ska2. (PMID: 17093495) Hanisch A … Nigg EA (The EMBO journal 2006) 2 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SKA2 Gene

Sources for SKA2 Gene