2. Gene
  3. DYNC2LI1 - dynein cytoplasmic 2 light intermediate chain 1 Gene

DYNC2LI1 - dynein cytoplasmic 2 light intermediate chain 1 Gene

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

中文名称：动力蛋白细胞质 2 轻中间链 1

种属: Homo sapiens

同用名: LIC3; D2LIC; CGI-60

基因 ID: 51626 | 基因类型: protein coding

关于 DYNC2LI1

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,774,039-43,828,347 (from NCBI)

This gene has 10 transcripts (splice variants), 197 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.0), thyroid (RPKM 6.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是动力蛋白 2 微管运动蛋白复合物的一个组成部分，该复合物通过鞭毛内运输系统在初级纤毛中的货物逆行运输中发挥作用。该基因普遍表达，其蛋白质定位于轴丝和高尔基体，直接与细胞质动力蛋白 2 重链 1 蛋白相互作用，形成多蛋白动力蛋白 2 复合体的一部分。该基因的突变会在动力蛋白 2 复合体中产生缺陷，从而导致多种类型的纤毛病，包括短肋胸廓发育不良 15 伴多指畸形 (SRTD15) 。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

DYNC2LI1 基因产物(5)

mRNA Protein Name
NM_001193464.2 NP_001180393.1 cytoplasmic dynein 2 light intermediate chain 1 isoform 4
NM_001348912.2 NP_001335841.1 cytoplasmic dynein 2 light intermediate chain 1 isoform 5
NM_001348913.2 NP_001335842.1 cytoplasmic dynein 2 light intermediate chain 1 isoform 6
NM_015522.4 NP_056337.1 cytoplasmic dynein 2 light intermediate chain 1 isoform 2
NM_016008.4 NP_057092.2 cytoplasmic dynein 2 light intermediate chain 1 isoform 1

DYNC2LI1 蛋白结构

DLIC

DLIC: Dynein light intermediate chain (DLIC) (29 - 163)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
蛋白主名 其他名称

cytoplasmic dynein 2 light intermediate chain 1

关联疾病

疾病名称 别名
Short-Rib Thoracic Dysplasia 15 With Polydactyly

SRTD15
Sitosterolemia 2

STSL2
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy
Sitosterolemia

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis
Sitosterolemia 1

Phytosterolemia

STSL1

Stsl

Shellfish Sterolemia
Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 3

Saldino-Noonan Syndrome

SRTD3

Atd3

Srps1

Srps3

Verma-Naumoff Syndrome

Srps2b

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Short Rib-Polydactyly Syndrome, Type I

Polydactyly With Neonatal Chondrodystrophy, Type I

Polydactyly With Neonatal Chondrodystrophy, Type Iii

Short Rib-Polydactyly Syndrome, Type Iib

Short Rib-Polydactyly Syndrome Type 3

Polydactyly With Neonatal Chondrodystrophy Type Iii

Short Rib-Polydactyly Syndrome Type Iii

Short Rib-Polydactyly Syndrome Type 1

Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

Majewski Syndrome

Short Rib-Polydactyly Syndrome, Type Iii

Type I Short Rib Polydactyly Syndrome

Srps Type 3

Short Rib Polydactyly Syndrome Verma Naumoff Type

Verma Naumoff Syndrome

Polydactyly With Neonatal Chondrodystrophy Type 1

Srps Type 1

Short Rib-Polydactyly Syndrome Saldino-Noonan Type

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 3

Polydactyly With Neonatal Chondrodystrophy Type I

Short Rib-Polydactyly Syndrome Type I

Short Rib-Polydactyly Syndrome Type Iib

Srps Type Iib

Srps Type Iii
Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly

SRTD11
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly

SRTD8

Srps6

Short Rib-Polydactyly Syndrome Type Vi

Short Rib-Polydactyly Syndrome, Type Vi

Srps Type Vi
Cranioectodermal Dysplasia

Sensenbrenner Syndrome

Levin Syndrome 1

Ced

Levin Syndrome

Dysplasia, Cranioectodermal
Short-Rib Thoracic Dysplasia 12

Beemer-Langer Syndrome

Type Iv Short Rib Polydactyly Syndrome

Short Rib-Polydactyly Syndrome Type 4

Short Rib-Polydactyly Syndrome, Beemer Type

SRTD12

Short Rib-Polydactyly Syndrome, Type Iv

Srps4

Srps Iv

Short Rib Syndrome, Beemer Type

Beemer Langer Syndrome

Srps Type 4

Short Rib Polydactyly Syndrome Beemer-Langer Type

Short Rib-Polydactyly Syndrome Beemer Type

Short Rib-Polydactyly Syndrome Type Iv

Short Rib-Polydactyly Syndrome, Beemer-Langer Type
Weyers Acrofacial Dysostosis

Curry-Hall Syndrome

Weyers Acrodental Dysostosis

WAD

Acrodental Dysostosis Of Weyers

Acrofacial Dysostosis, Weyers Type

Acrofacial Dysostosis Of Weyers

Curry Hall Syndrome
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
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-RS04087 DYNC2LI1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus DYNC2LI1 VGNC VGNC:61681
Macaca mulatta DYNC2LI1 VGNC VGNC:71899
Bos taurus DYNC2LI1 VGNC VGNC:28274
Canis familiaris DYNC2LI1 VGNC VGNC:40149
Mus musculus DYNC2LI1 MGD MGI:1913996
Rattus norvegicus DYNC2LI1 RGD RGD:1310286
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