DYNC1I2 - dynein cytoplasmic 1 intermediate chain 2 Gene

中文名称：动力蛋白细胞质 1 中间链 2

种属: Homo sapiens

同用名: IC2; DIC74; DNCI2; NEDMIBA

基因 ID: 1781 | 基因类型: protein coding

关于 DYNC1I2

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,687,469-171,750,158 (from NCBI)

This gene has 25 transcripts (splice variants), 293 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 28.2), endometrium (RPKM 25.0) and 25 other tissues.

功能概要

该基因编码动力蛋白中间链家族的成员。编码的蛋白质是细胞质动力蛋白 1 复合物的非催化成分，它作为逆行微管马达来运输细胞器和囊泡。该基因的假基因位于 10 号染色体上。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 11 月]

This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

DYNC1I2 基因产物(12)

mRNA	Protein	Name
NM_001271785.2	NP_001258714.1	cytoplasmic dynein 1 intermediate chain 2 isoform 1
NM_001271786.2	NP_001258715.1	cytoplasmic dynein 1 intermediate chain 2 isoform 2
NM_001271787.2	NP_001258716.1	cytoplasmic dynein 1 intermediate chain 2 isoform 2
NM_001271788.2	NP_001258717.1	cytoplasmic dynein 1 intermediate chain 2 isoform 3
NM_001271789.2	NP_001258718.1	cytoplasmic dynein 1 intermediate chain 2 isoform 3
NM_001271790.2	NP_001258719.1	cytoplasmic dynein 1 intermediate chain 2 isoform 4
NM_001320882.2	NP_001307811.1	cytoplasmic dynein 1 intermediate chain 2 isoform 5
NM_001320883.2	NP_001307812.1	cytoplasmic dynein 1 intermediate chain 2 isoform 5
NM_001320884.2	NP_001307813.1	cytoplasmic dynein 1 intermediate chain 2 isoform 4
NM_001378.3	NP_001369.1	cytoplasmic dynein 1 intermediate chain 2 isoform 1
NM_001378455.1	NP_001365384.1	cytoplasmic dynein 1 intermediate chain 2 isoform 6
NM_001378456.1	NP_001365385.1	cytoplasmic dynein 1 intermediate chain 2 isoform 6

DYNC1I2 蛋白结构

Dynein_IC2

WD40

0
100
200
300
400
500
600
638 a.a.

蛋白主名

其他名称

cytoplasmic dynein 1 intermediate chain 2

DH IC-2

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies

NEDMIBA

Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies

NMIHBA

Prune1-Related Neurological Syndrome

Cholestasis, Intrahepatic, Of Pregnancy 3

ICP3	Cholestasis, Intrahepatic, Of Pregnancy, 3
Intrahepatic Cholestasis Of Pregnancy 3	Pregnancy Related Cholestasis 3
Cholestasis Of Pregnancy, Intrahepatic 3	Cholestasis, Intrahepatic, Of Pregnancy, Type 3

Ciliary Dyskinesia, Primary, 36, X-Linked

CILD36	Ciliary Dyskinesia, Primary, 36, With Or Without Situs Inversus
Primary Ciliary Dyskinesia 36	X-Linked Primary Ciliary Dyskinesia 36

Umbilical Hernia

Hernia, Umbilical

Omphalocele

Omphalocoele	Congenital Omphalocele
Exomphalos	Exumbilication

Keratoderma, Palmoplantar, With Deafness

Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar Keratoderma With Deafness
Palmoplantar Hyperkeratosis-Deafness Syndrome	Palmoplantar Hyperkeratosis-Hearing Loss Syndrome
Palmoplantar Keratoderma-Hearing Loss Syndrome	Ppk-Deafness Syndrome
Keratoderma Palmoplantar Deafness	Diffuse Palmoplantar Keratoderma With Deafness
Focal Palmoplantar Keratoderma With Sensorineural Deafness	Hereditary Palmoplantar Keratoderma With Deafness
Keratoderma Palmoplantar, With Deafness	Palmoplantar Keratoderma And Sensorineural Deafness
Ppk With Deafness	PPKDFN
Keratoderma Palmoplantar, Deafness

Silver-Russell Syndrome 1

Silver-Russell Syndrome	Russell-Silver Syndrome
Silver-Russell Dwarfism	Rss
SRS1	Srs
Silver Russell Dwarfism	Russell Silver Syndrome
Silver Russell Syndrome

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome	IMAGE
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies
Image Anomaly	Image Association
Fetal Growth Retardation	Pyle Metaphyseal Dysplasia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04084	DYNC1I2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	DYNC1I2	RGD	RGD:620174
Canis familiaris	DYNC1I2	VGNC	VGNC:40145
Macaca mulatta	DYNC1I2	VGNC	VGNC:71953
Bos taurus	DYNC1I2	VGNC	VGNC:28271
Felis catus	DYNC1I2	VGNC	VGNC:61677
Mus musculus	DYNC1I2	MGD	MGI:107750

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DYNC1I2 - dynein cytoplasmic 1 intermediate chain 2 Gene

关于 DYNC1I2

功能概要

DYNC1I2 基因产物(12)

DYNC1I2 蛋白结构

关联疾病

直系同源

热门区域

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DYNC1I2 - dynein cytoplasmic 1 intermediate chain 2 Gene

关于 DYNC1I2

功能概要

DYNC1I2 基因产物(12)

DYNC1I2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z