2. Gene
  3. DYNC1I2 - dynein cytoplasmic 1 intermediate chain 2 Gene

DYNC1I2 - dynein cytoplasmic 1 intermediate chain 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as IC2; DIC74; DNCI2; NEDMIBA

Gene ID: 1781 | Gene type: protein coding

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

DYNC1I2 Protein Structure

Dynein_IC2

Dynein_IC2: Cytoplasmic dynein 1 intermediate chain 2 (132 - 164)

WD40

WD40: WD domain, G-beta repeat (472 - 509)

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  • 638 a.a.
Protein Preferred Names Protein Names

cytoplasmic dynein 1 intermediate chain 2

DH IC-2

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04084 DYNC1I2 Human Pre-designed siRNA Set A / 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