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

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; AllianceGenome:HGNC:28296
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: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (128633653..128684460, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (140840521..140889219, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (131395932..131419126, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Title: WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.
Title: WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.
Our study revealed that WDR34 promoted the progression of HCC by activating Wnt/beta-catenin signaling.
Title: WDR34 Activates Wnt/Beta-Catenin Signaling in Hepatocellular Carcinoma.
these results indicate that incorporation of DYNLL1/DYNLL2 and DYNLRB1/DYNLRB2 into the dynein-2 complex via interactions with the WDR34 intermediate chain is crucial for dynein-2 function in retrograde ciliary protein trafficking.
Title: Interactions of the dynein-2 intermediate chain WDR34 with the light chains are required for ciliary retrograde protein trafficking.
loss of function of dynein-2 WDR34 and WDR60 subunits leads to defects in transition zone architecture, as well as intraflagellar transport.
Title: Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function.
In addition to the in vitro experiments, WDR34 negativity was correlated with tumoral growth of OSCCs. Our findings suggested that WDR34 inhibits OSCC progression and might be a potential tumor-suppressor molecule in OSCCs.
Title: Evaluation of tryptophan-aspartic acid repeat-containing protein 34 as a novel tumor-suppressor molecule in human oral cancer.
Mutations in WDR34 cause Jeune asphyxiating thoracic dystrophy. WDR34 is critical for ciliary functions essential to normal development and survival.
Title: Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
In patients with short-rib polydactyly syndrome type III, primary cilia in WDR34 mutant fibroblasts were significantly shorter than normal and had a bulbous tip.
Title: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.
Results suggest that WDR34 is a TAK1-associated inhibitor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.
Title: WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Short-rib thoracic dysplasia 11 with or without polydactyly MedGen: C3810200 OMIM: 615633 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-8025 (e-PCR)
- UniSTS:85777

A006J25 (e-PCR)
- UniSTS:60238

RH12836 (e-PCR)
- UniSTS:26298

RH45959 (e-PCR)
- UniSTS:68350

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light chain binding	IBA Inferred from Biological aspect of Ancestor more info
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

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
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
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

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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

NG_034056.1 RefSeqGene

Range

5004..28198

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_052844.4 → NP_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

Q5VXV4, Q96EX3, Q9BV46

Related

ENSP00000361800.2, ENST00000372715.7

Conserved Domains (3) summary

COG2319
Location:106 → 516

WD40; WD40 repeat [General function prediction only]

sd00039
Location:220 → 264

7WD40; WD40 repeat [structural motif]

cl02567
Location:217 → 515

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

128633653..128684460 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519179.3 → XP_011517481.1 cytoplasmic dynein 2 intermediate chain 2 isoform X2

Conserved Domains (3) summary

COG2319
Location:357 → 490

WD40; WD40 repeat [General function prediction only]

sd00039
Location:165 → 217

7WD40; WD40 repeat [structural motif]

cl02567
Location:358 → 486

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 ...
XM_047424057.1 → XP_047280013.1 cytoplasmic dynein 2 intermediate chain 2 isoform X1

UniProtKB/Swiss-Prot

Q5VXV4, Q96EX3, Q9BV46

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

140840521..140889219 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364144.1 → XP_054220119.1 cytoplasmic dynein 2 intermediate chain 2 isoform X2
XM_054364143.1 → XP_054220118.1 cytoplasmic dynein 2 intermediate chain 2 isoform X1