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

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; 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, Oct 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration.
Title: SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration.
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.
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.
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.
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102995 (e-PCR)
- UniSTS:97329

WI-10139 (e-PCR)
- UniSTS:81459

G42225 (e-PCR)
- UniSTS:93328

RH78002 (e-PCR)
- UniSTS:7405

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)

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
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
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