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

Gene ID: 348235, updated on 17-Jun-2019

Summary

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
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
Expression
Ubiquitous expression in brain (RPKM 9.5), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See SKA2 in Genome Data Viewer
Location:
17q22
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (59109857..59155186, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57187308..57232800, 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 tripartite motif containing 37 Neighboring gene RNA, 7SL, cytoplasmic 716, pseudogene Neighboring gene RNA, U2 small nuclear 58, pseudogene Neighboring gene microRNA 454 Neighboring gene putative speedy protein E6 Neighboring gene microRNA 301a Neighboring gene proline rich 11 Neighboring gene speedy/RINGO cell cycle regulator family member E22, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12758, MGC110975

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule polymerization or depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
condensed chromosome outer kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
condensed chromosome outer kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
spindle microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle microtubule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001100595.2NP_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/Swiss-Prot
    Q8WVK7
    Related
    ENSP00000411231.2, ENST00000437036.6
  2. NM_001330399.2NP_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:5100
    SKA2; Spindle and kinetochore-associated protein 2
  3. NM_182620.4NP_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
    Q8WVK7
    Related
    ENSP00000333433.7, ENST00000330137.12
    Conserved Domains (1) summary
    cd12955
    Location:5120
    SKA2; Spindle and kinetochore-associated protein 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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