2. Gene
  3. CKAP2L - cytoskeleton associated protein 2 like Gene

CKAP2L - cytoskeleton associated protein 2 like Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞骨架相关蛋白 2 样

种属: Homo sapiens

基因 ID: 150468 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质被认为是一种对神经干细胞或祖细胞很重要的有丝分裂纺锤体蛋白。该基因的突变与纺锤体组织缺陷有关，包括有丝分裂纺锤体缺陷、滞后染色体和染色质桥。有证据表明，该基因的突变与 Filippi 综合征有关，其特征是生长缺陷、小头畸形、智力障碍、面部特征缺陷和并指畸形。该基因在 20 号染色体上有一个假基因。可变剪接导致多个转录本变异。[RefSeq 提供，2015 年 1 月]

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 基因产物(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 蛋白结构

CKAP2_C

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

  • 0
  • 200
  • 400
  • 600
  • 745 a.a.
蛋白主名 其他名称

cytoskeleton-associated protein 2-like

radial fiber and mitotic spindle protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02733 CKAP2L Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19770 Ckap2l Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26267 Ckap2l Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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