Human Gene SKA2 (ENST00000437036.6) from GENCODE V44
  Description: Homo sapiens spindle and kinetochore associated complex subunit 2 (SKA2), transcript variant 2, mRNA. (from RefSeq NM_001100595)
Gencode Transcript: ENST00000437036.6
Gencode Gene: ENSG00000182628.13
Transcript (Including UTRs)
   Position: hg38 chr17:59,112,047-59,155,194 Size: 43,148 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr17:59,112,333-59,155,083 Size: 42,751 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:59,112,047-59,155,194)mRNA (may differ from genome)Protein (75 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SKA2_HUMAN
DESCRIPTION: RecName: Full=Spindle and kinetochore-associated protein 2; AltName: Full=Protein FAM33A;
FUNCTION: Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it is required for SKA1 localization.
SUBUNIT: 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.
SUBCELLULAR LOCATION: 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.
SIMILARITY: Belongs to the SKA2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SKA2
Diseases sorted by gene-association score: post-traumatic stress disorder (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.78 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 432.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.10111-0.199 Picture PostScript Text
3' UTR -53.50286-0.187 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026762 - Ska2

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4AJ5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WVK7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0031110 regulation of microtubule polymerization or depolymerization
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000940 condensed chromosome outer kinetochore
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005876 spindle microtubule


-  Descriptions from all associated GenBank mRNAs
  LF384789 - JP 2014500723-A/192292: Polycomb-Associated Non-Coding RNAs.
MA620366 - JP 2018138019-A/192292: Polycomb-Associated Non-Coding RNAs.
BC106003 - Homo sapiens family with sequence similarity 33, member A, mRNA (cDNA clone MGC:110975 IMAGE:6143473), complete cds.
AK056473 - Homo sapiens cDNA FLJ31911 fis, clone NT2RP7004751.
AK022820 - Homo sapiens cDNA FLJ12758 fis, clone NT2RP2001328.
BC017873 - Homo sapiens family with sequence similarity 33, member A, mRNA (cDNA clone MGC:22673 IMAGE:4685972), complete cds.
HQ447776 - Synthetic construct Homo sapiens clone IMAGE:100071108; CCSB012915_02 family with sequence similarity 33, member A (FAM33A) gene, encodes complete protein.
KJ896119 - Synthetic construct Homo sapiens clone ccsbBroadEn_05513 SKA2 gene, encodes complete protein.
JD474460 - Sequence 455484 from Patent EP1572962.
LF327223 - JP 2014500723-A/134726: Polycomb-Associated Non-Coding RNAs.
MA562800 - JP 2018138019-A/134726: Polycomb-Associated Non-Coding RNAs.
JD432045 - Sequence 413069 from Patent EP1572962.
LF319941 - JP 2014500723-A/127444: Polycomb-Associated Non-Coding RNAs.
LF327222 - JP 2014500723-A/134725: Polycomb-Associated Non-Coding RNAs.
MA555518 - JP 2018138019-A/127444: Polycomb-Associated Non-Coding RNAs.
MA562799 - JP 2018138019-A/134725: Polycomb-Associated Non-Coding RNAs.
LF327219 - JP 2014500723-A/134722: Polycomb-Associated Non-Coding RNAs.
MA562796 - JP 2018138019-A/134722: Polycomb-Associated Non-Coding RNAs.
FJ648812 - Homo sapiens family with sequence similarity 33 member A (FAM33A) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WVK7 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NIL3, B3KPL3, ENST00000437036.1, ENST00000437036.2, ENST00000437036.3, ENST00000437036.4, ENST00000437036.5, FAM33A, NM_001100595, Q8WVK7, SKA2_HUMAN, uc010dde.1, uc010dde.2
UCSC ID: ENST00000437036.6
RefSeq Accession: NM_001100595
Protein: Q8WVK7 (aka SKA2_HUMAN)
CCDS: CCDS45748.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.