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DYNC2I2 dynein 2 intermediate chain 2 [ Homo sapiens (human) ]

Gene ID: 89891, updated on 8-Jul-2021

Summary

Official Symbol
DYNC2I2provided by HGNC
Official Full Name
dynein 2 intermediate chain 2provided by HGNC
Primary source
HGNC:HGNC:28296
See related
Ensembl:ENSG00000119333 MIM:613363
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DIC5; WDR34; FAP133; SRTD11; CFAP133; bA216B9.3
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 24.0), kidney (RPKM 17.4) and 25 other tissues See more
Orthologs
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Genomic context

See DYNC2I2 in Genome Data Viewer
Location:
9q34.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128633653..128656847, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131395932..131419126, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GLE1 RNA export mediator Neighboring gene uncharacterized LOC101929270 Neighboring gene RNA, U7 small nuclear 171 pseudogene Neighboring gene spectrin alpha, non-erythrocytic 1 Neighboring gene uncharacterized LOC105376287 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 4 Neighboring gene high mobility group AT-hook 1 pseudogene 4 Neighboring gene SET nuclear proto-oncogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with disordered eating.
GeneReviews: Not available
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available
Short-rib thoracic dysplasia 11 with or without polydactyly
MedGen: C3810200 OMIM: 615633 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20486

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in centriole ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in ciliary plasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary tip TAS
Traceable Author Statement
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium TAS
Traceable Author Statement
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
part_of cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of cytoplasmic dynein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytoplasmic dynein 2 intermediate chain 2
Names
WD repeat domain 34
WD repeat-containing protein 34

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034056.1 RefSeqGene

    Range
    5001..28190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_052844.4NP_443076.2  cytoplasmic dynein 2 intermediate chain 2

    See identical proteins and their annotated locations for NP_443076.2

    Status: REVIEWED

    Source sequence(s)
    AL356481
    Consensus CDS
    CCDS6906.2
    UniProtKB/Swiss-Prot
    Q96EX3
    Related
    ENSP00000361800.2, ENST00000372715.7
    Conserved Domains (3) summary
    COG2319
    Location:106516
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:220264
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:217515
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    128633653..128656847 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519179.2XP_011517481.1  cytoplasmic dynein 2 intermediate chain 2 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:357490
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:165217
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:358486
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
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