CKAP2L - cytoskeleton associated protein 2 like Gene

Homo sapiens

Gene ID: 150468 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02733	CKAP2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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