DYNC2I2

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]

Description

Dynein 2 intermediate chain 2

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (128633653 - 128656847)

Ensembl ID

ENSG00000119333  (ver. 103.38)

Orthologs

Mouse Dync2i2: ENSMUSG00000039715

UniProt

Q96EX3

neXtProt

NX_Q96EX3

Human splice variants
Mouse splice variants

Protein structure