2. Gene
  3. KPTN - kaptin, actin binding protein Gene

KPTN - kaptin, actin binding protein Gene

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

中文名称：kaptin，肌动蛋白结合蛋白

种属: Homo sapiens

同用名: 2E4; KICS4; MRT41

基因 ID: 11133 | 基因类型: protein coding

关于 KPTN

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,475,150-47,485,839 (from NCBI)

This gene has 9 transcripts (splice variants), 181 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 1.7), testis (RPKM 1.7) and 25 other tissues.

功能概要

该基因编码丝状肌动蛋白相关蛋白，该蛋白参与肌动蛋白动力学并在神经形态发生中起重要作用。这种蛋白质是定位于溶酶体的 KICSTOR 蛋白质复合物的一部分。该基因的突变会导致常染色体隐性遗传形式的智力障碍。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2017 年 7 月]

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]

KPTN 基因产物(2)

mRNA Protein Name
NM_001291296.2 NP_001278225.1 KICSTOR complex protein kaptin isoform 2
NM_007059.4 NP_008990.2 KICSTOR complex protein kaptin isoform 1
蛋白主名 其他名称

KICSTOR complex protein kaptin

actin-associated protein 2E4

KPTN 抗体

目录号 产品名 应用 反应物种
HY-P810241 Kaptin Antibody (YA9585) WB, ICC/IF, IF-Tissue, IP, ELISA human

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 41

Macrocephaly-Developmental Delay Syndrome

MRT41

Mental Retardation, Autosomal Recessive 41

Autosomal Recessive Intellectual Developmental Disorder 41

Mental Retardation, Autosomal Recessive, Type 41
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders
Epilepsy, Familial Temporal Lobe, 3

Epilepsy, Familial Mesial Temporal Lobe

Fmtle

Familial Temporal Lobe Epilepsy 3

ETL3

Familial Mesial Temporal Lobe Epilepsy
Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3
Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy

Arnd

Encephalopathy, Static

Alcohol Related Neurodevelopmental Disorder
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07424 KPTN Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta KPTN VGNC VGNC:74204
Felis catus KPTN VGNC VGNC:97477
Bos taurus KPTN VGNC VGNC:30709
Canis familiaris KPTN VGNC VGNC:42507
Rattus norvegicus KPTN RGD RGD:1310341
Mus musculus KPTN MGD MGI:1890380
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