Kinesin Family Member 22

Alternative Names

  • KIF22
  • Kinesin-Like 4
  • KNSL4
  • Kinesin-Like DNA-Binding Protein
  • KID
  • Origin of Plasmid DNA Replication-Binding Protein
  • OBP
  • ORIP-Binding Protein
Back to search Result
OMIM Number

603213

NCBI Gene ID

3835

Uniprot ID

Q14807

Length

14,810 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Kinesin-like protein KIF22

Molecular Mass

73262 Da

Amino Acid Count

665

Genomic Location

chr16:29,790,733-29,805,542

Gene Map Locus
16p11.2

Description

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001256269.1:c.242G>ALebanonNC_000016.10:g.29798644G>APathogenicPathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2NG_032055.1:g.12932G>A; NM_001256269.1:c.242G>A; NP_001243198.1:p.Arg81Gln19392292230335
NM_007317.3:c.443C>TAlgeriaNC_000016.10:g.29798641C>TLikely Pathogenic, PathogenicLikely PathogenicSpondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2NG_032055.1:g.12929C>T; NM_007317.3:c.443C>T; NP_015556.1:p.Pro148Leu19392292130334
© CAGS 2024. All rights reserved.