CKAP2L - cytoskeleton associated protein 2 like Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 150468

About CKAP2L

Cytogenetic location: 2q14.1 Genomic coordinates (GRCh38): 2:112,736,349-112,764,609 (from NCBI)

This gene has 6 transcripts (splice variants), 186 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 6.1), testis (RPKM 4.2) and 12 other tissues.

Summary

The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

CKAP2L Products (2)

mRNA Protein Name
NM_001304361.2 NP_001291290.1 cytoskeleton-associated protein 2-like isoform 2
NM_152515.5 NP_689728.3 cytoskeleton-associated protein 2-like isoform 1

CKAP2L Protein Structure

CKAP2_C

CKAP2_C: Cytoskeleton-associated protein 2 C-terminus (415 - 734)

  • 0
  • 200
  • 400
  • 600
  • 745 a.a.
Protein Preferred Names Protein Names

cytoskeleton-associated protein 2-like

  • radial fiber and mitotic spindle protein

Related Diseases

Diseases Alias
Filippi Syndrome

  • Scott Craniodigital Syndrome With Mental Retardation

  • Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome

  • FLPIS

  • Scott Bryant Graham Syndrome

  • Craniodigital-Intellectual Disability Syndrome

  • Scott Craniodigital Syndrome

  • Scott-Bryant-Graham Syndrome

  • Syndactyly, Type I, With Microcephaly And Mental Retardation

  • Syndactyly Type I With Microcephaly And Intellectual Disability

  • Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly

  • Craniodigital Syndrome With Intellectual Disability

  • Craniodigital Syndrome-Intellectual Disability Syndrome

  • Craniodigital Syndrome-Intellectual Disability, Scott Type

  • Intellectual Disability-Craniodigital Syndrome
Hypogonadism
Hypocalcemia, Autosomal Dominant 2

  • Autosomal Dominant Hypocalcemia 2

  • HYPOC2

  • Hypocalcemia, Autosomal Dominant, Type 2
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02733 CKAP2L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19770 Ckap2l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26267 Ckap2l Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CKAP2L RGD RGD:1590645
Canis familiaris CKAP2L VGNC VGNC:39287
Bos taurus CKAP2L VGNC VGNC:27381
Mus musculus CKAP2L MGD MGI:1917716
Felis catus CKAP2L VGNC VGNC:80066
Macaca mulatta CKAP2L VGNC VGNC:71361
Others CKAP2L NCBI