1. Gene
  2. SKA2 - spindle and kinetochore associated complex subunit 2 Gene

SKA2 - spindle and kinetochore associated complex subunit 2 Gene

Homo sapiens

Also known as FAM33A

Gene ID: 348235 | Gene type: protein coding

About SKA2

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:59,109,857-59,155,186 (from NCBI)

This gene has 10 transcripts (splice variants) and 230 orthologues. Ubiquitous expression in brain (RPKM 9.5), thyroid (RPKM 8.8) and 25 other tissues.

Summary

Enables microtubule binding activity. Involved in several processes, including chromosome segregation; mitotic cell cycle; and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of outer kinetochore. [provided by Alliance of Genome Resources, Apr 2022]

SKA2 Products(3)

mRNA Protein Name
NM_001100595.2 NP_001094065.1 spindle and kinetochore-associated protein 2 isoform 2
NM_001330399.2 NP_001317328.1 spindle and kinetochore-associated protein 2 isoform 3
NM_182620.4 NP_872426.1 spindle and kinetochore-associated protein 2 isoform 1
Protein Preferred Names Protein Names

spindle and kinetochore-associated protein 2

family with sequence similarity 33, member A

Related Diseases

Diseases Alias
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Acute Poststreptococcal Glomerulonephritis

Post-Streptococcal Glomerulonephritis

Acute Post-Streptococcal Glomerulonephritis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SKA2 VGNC VGNC:34644
Canis familiaris SKA2 VGNC VGNC:46194
Macaca mulatta SKA2 VGNC VGNC:104651
Mus musculus SKA2 MGD MGI:1913390
Rattus norvegicus SKA2 RGD RGD:1307084