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    SKA2 spindle and kinetochore associated complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 348235, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SKA2provided by HGNC
    Official Full Name
    spindle and kinetochore associated complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:28006
    See related
    Ensembl:ENSG00000182628 MIM:616674; AllianceGenome:HGNC:28006
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM33A
    Summary
    Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of SKA complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 9.5), thyroid (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SKA2 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (59109857..59155186, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59977953..60023284, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57187218..57232547, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1E Neighboring gene ribosomal protein S12 pseudogene 30 Neighboring gene MPRA-validated peak2922 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57078614-57079813 Neighboring gene tripartite motif containing 37 Neighboring gene RNA, 7SL, cytoplasmic 716, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57183329-57183988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:57183989-57184648 Neighboring gene uncharacterized LOC124904039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8777 Neighboring gene RNA, U2 small nuclear 58, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12502 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:57235593-57236792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12503 Neighboring gene microRNA 454 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:57259739-57260240 Neighboring gene microRNA 301a Neighboring gene speedy/RINGO cell cycle regulator family member E22, pseudogene Neighboring gene proline rich 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12504 Neighboring gene SMG8 nonsense mediated mRNA decay factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The rs7208505 Polymorphism and Differential Expression of the SKA2 Gene in the Prefrontal Cortex of Suicide Victims from the Mexican Population.
      Title: The rs7208505 Polymorphism and Differential Expression of the SKA2 Gene in the Prefrontal Cortex of Suicide Victims from the Mexican Population.
    2. SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration.
      Title: SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration.
    3. Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
      Title: Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.
    4. Resting mononuclear cell NR3C1 and SKA2 expression levels predict blunted cortisol reactivity to combat training stress among elite army cadets exposed to childhood adversity.
      Title: Resting mononuclear cell NR3C1 and SKA2 expression levels predict blunted cortisol reactivity to combat training stress among elite army cadets exposed to childhood adversity.
    5. Circ_0008039 supports breast cancer cell proliferation, migration, invasion, and glycolysis by regulating the miR-140-3p/SKA2 axis.
      Title: Circ_0008039 supports breast cancer cell proliferation, migration, invasion, and glycolysis by regulating the miR-140-3p/SKA2 axis.
    6. The Shift of HbF to HbA under Influence of SKA2 Gene; A Possible Link between Cortisol and Hematopoietic Maturation in Term and Preterm Newborns.
      Title: The Shift of HbF to HbA under Influence of SKA2 Gene; A Possible Link between Cortisol and Hematopoietic Maturation in Term and Preterm Newborns.
    7. Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates in hepatocellular carcinoma.
      Title: Transcript levels of spindle and kinetochore-associated complex 1/3 as prognostic biomarkers correlated with immune infiltrates in hepatocellular carcinoma.
    8. HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional Transcription Unit in Lung Squamous Cell Carcinomas.
      Title: HEDGEHOG/GLI Modulates the PRR11-SKA2 Bidirectional Transcription Unit in Lung Squamous Cell Carcinomas.
    9. Spindle and kinetochore-associated protein 2 facilitates the proliferation and invasion of hepatocellular carcinoma via the regulation of Wnt/beta-catenin signaling.
      Title: Spindle and kinetochore-associated protein 2 facilitates the proliferation and invasion of hepatocellular carcinoma via the regulation of Wnt/β-catenin signaling.
    10. SKA2 promotes proliferation and invasion of hepatocellular carcinoma cells via activating the beta-catenin signaling pathway.
      Title: SKA2 promotes proliferation and invasion of hepatocellular carcinoma cells via activating the β-catenin signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12758, MGC110975

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of meiotic spindle orientation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic metaphase chromosome alignment IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of microtubule polymerization or depolymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spindle assembly involved in female meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of SKA complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in kinetochore IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in meiotic spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of outer kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of outer kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spindle and kinetochore-associated protein 2
    Names
    family with sequence similarity 33, member A
    spindle and KT (kinetochore) associated 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100595.2 → NP_001094065.1  spindle and kinetochore-associated protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. The biological validity of the predicted protein sequence needs to be experimentally verified.
      Source sequence(s)
      AC099850, BQ019350, DA133216, DB158057
      Consensus CDS
      CCDS45748.1
      UniProtKB/TrEMBL
      J3QKN8
      Related
      ENSP00000411231.2, ENST00000437036.6

    2. NM_001330399.2 → NP_001317328.1  spindle and kinetochore-associated protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099850, AK022820, DA020580, DB158057
      Consensus CDS
      CCDS82175.1
      UniProtKB/TrEMBL
      J3KSP0
      Related
      ENSP00000462574.1, ENST00000583380.5
      Conserved Domains (1) summary
      cd12955
      Location:5 → 100
      SKA2; Spindle and kinetochore-associated protein 2

    3. NM_182620.4 → NP_872426.1  spindle and kinetochore-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_872426.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AC099850, BC106003, BQ019350, DB158057
      Consensus CDS
      CCDS45747.1
      UniProtKB/Swiss-Prot
      A6NIL3, B3KPL3, E9PCB8, Q8WVK7
      Related
      ENSP00000333433.7, ENST00000330137.12
      Conserved Domains (1) summary
      cd12955
      Location:5 → 120
      SKA2; Spindle and kinetochore-associated protein 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      59109857..59155186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59977953..60023284 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVK7.1 GenPept UniProtKB/Swiss-Prot:Q8WVK7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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