DYNC1I2 - dynein cytoplasmic 1 intermediate chain 2 Gene

Also Known as IC2; DIC74; DNCI2; NEDMIBA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1781

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
part of dynein complex	IPI IPI: Inferred from physical interaction	24986880	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
located in vesicle	IDA IDA: Inferred from direct assay	20682791	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DYNC1I2 Protein Structure

Dynein_IC2

WD40

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

Protein Preferred Names	Protein Names
cytoplasmic dynein 1 intermediate chain 2	DH IC-2

DYNC1I2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DYNC1I2	Q13409	DYNLRB1	Homo sapiens	Q9NP97	Y2H Prey Pooling	25416956
Intra	DYNC1I2	Q13409	DYNLRB1	Homo sapiens	Q9NP97	Anti Tag CoIP	35271311
Intra	DYNC1I2	Q13409	DYNLRB1	Homo sapiens	Q9NP97	GMS	24986880
Intra	DYNC1I2	Q13409	DYNLRB1	Homo sapiens	Q9NP97	EM	24986880
Intra	DYNC1I2	Q13409	DYNLT3	Homo sapiens	P51808	Anti Tag CoIP	35271311
Intra	DYNC1I2	Q13409	DYNLT3	Homo sapiens	P51808	Anti Tag CoIP	33961781
Intra	DYNC1I2	Q13409	DYNLT3	Homo sapiens	P51808	Y2H Pooling	16189514
Intra	DYNC1I2	Q13409	DYNLT3	Homo sapiens	P51808	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04084	DYNC1I2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	DYNC1I2	NCBI