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 2... See more...

Aliases for DYNC1I2 Gene

Aliases for DYNC1I2 Gene

  • Dynein Cytoplasmic 1 Intermediate Chain 2 2 3 5
  • Dynein, Cytoplasmic, Intermediate Polypeptide 2 2 3
  • Cytoplasmic Dynein 1 Intermediate Chain 2 3 4
  • Dynein Intermediate Chain 2, Cytosolic 3 4
  • DH IC-2 3 4
  • DIC74 2 3
  • DNCI2 3 4
  • Testis Tissue Sperm-Binding Protein Li 66n 3
  • Cytoplasmic Dynein Intermediate Chain 2 4
  • NEDMIBA 3
  • DYNC1I2 5
  • DNCIC2 4
  • IC2 3

External Ids for DYNC1I2 Gene

Previous HGNC Symbols for DYNC1I2 Gene

  • DNCI2

Previous GeneCards Identifiers for DYNC1I2 Gene

  • GC02P172370
  • GC02P172252
  • GC02P172543
  • GC02P164429

Summaries for DYNC1I2 Gene

Entrez Gene Summary for DYNC1I2 Gene

  • 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]

GeneCards Summary for DYNC1I2 Gene

DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2) is a Protein Coding gene. Diseases associated with DYNC1I2 include Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies and Microcephaly. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNC1I1.

UniProtKB/Swiss-Prot Summary for DYNC1I2 Gene

  • Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes. Has a critical role in neurodevelopment (PubMed:31079899).

Gene Wiki entry for DYNC1I2 Gene

Additional gene information for DYNC1I2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNC1I2 Gene

Genomics for DYNC1I2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNC1I2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J171686 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1092 3.4 CREB1 PRDM10 ZNF629 REST TFE3 SIX5 IKZF1 NFKBIZ SMAD2 ZNF692 DYNC1I2 DAP3P2 HAT1 CYBRD1 DCAF17 GORASP2 TLK1 piR-60885-064
GH02J171707 Promoter/Enhancer 1.1 EPDnew Ensembl 600.4 +20.4 20392 3.2 ZNF221 CTCF PRDM10 FOXA1 REST RAD21 ATF7 ZNF561 ZBTB44 ARID3A DYNC1I2 DCAF17 DLX2 DLX2-DT piR-60885-064 HAT1
GH02J171654 Enhancer 0.5 Ensembl 12.4 -32.0 -32008 1.6 IKZF2 HMBOX1 SPI1 SMARCE1 IKZF1 DYNC1I2 SLC25A12 METAP1D CYBRD1 piR-57195-129
GH02J171513 Enhancer 1 Ensembl ENCODE 5.2 -173.4 -173408 5.2 PRDM10 IKZF1 JUND PKNOX1 MTA1 IKZF2 DPF2 HDAC1 SOX6 GATAD2B CYBRD1 DYNC1I2 lnc-METTL8-3 lnc-CYBRD1-1 METTL8
GH02J172092 Promoter/Enhancer 3 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.6 +411.0 410950 10.9 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 DLX2 DLX2-DT DCAF17 DAP3P2 RPS15P4 METAP1D HAT1 ITGA6 ITGA6-AS1 DLX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNC1I2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNC1I2

Top Transcription factor binding sites by QIAGEN in the DYNC1I2 gene promoter:
  • aMEF-2
  • AML1a
  • AREB6
  • C/EBPalpha
  • Evi-1
  • MEF-2A
  • POU2F1
  • POU2F1a
  • Sox9

Genomic Locations for DYNC1I2 Gene

Genomic Locations for DYNC1I2 Gene
chr2:171,687,409-171,750,158
(GRCh38/hg38)
Size:
62,750 bases
Orientation:
Plus strand
chr2:172,543,919-172,604,930
(GRCh37/hg19)
Size:
61,012 bases
Orientation:
Plus strand

Genomic View for DYNC1I2 Gene

Genes around DYNC1I2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC1I2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC1I2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC1I2 Gene

Proteins for DYNC1I2 Gene

  • Protein details for DYNC1I2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13409-DC1I2_HUMAN
    Recommended name:
    Cytoplasmic dynein 1 intermediate chain 2
    Protein Accession:
    Q13409
    Secondary Accessions:
    • B7ZA04
    • D3DPD4
    • D3DPD5
    • D3DPD6
    • Q32LY9
    • Q53S84
    • Q5BJF8
    • Q7Z4X1
    • Q96NG7
    • Q96S87
    • Q9BXZ5
    • Q9NT58

    Protein attributes for DYNC1I2 Gene

    Size:
    638 amino acids
    Molecular mass:
    71457 Da
    Quaternary structure:
    • Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with DYNLT1 and DYNLT3. Interacts with DCNT1 (By similarity). Interacts with BICD2 (By similarity). Interacts with SPEF2 (By similarity).
    • (Microbial infection) Interacts with human adenovirus 5 hexon protein; this interaction probably allows virus intracellular transport.
    SequenceCaution:
    • Sequence=AAA89166.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Several sequence problems.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYNC1I2 Gene

    Alternative splice isoforms for DYNC1I2 Gene

neXtProt entry for DYNC1I2 Gene

Post-translational modifications for DYNC1I2 Gene

  • The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYNC1I2 Gene

Domains & Families for DYNC1I2 Gene

Gene Families for DYNC1I2 Gene

Suggested Antigen Peptide Sequences for DYNC1I2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79018, highly similar to Cytoplasmic dynein 1 intermediate chain 2 (B7ZA04_HUMAN)
  • Dynein intermediate chain 2, cytosolic (DC1I2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13409

UniProtKB/Swiss-Prot:

DC1I2_HUMAN :
  • Belongs to the dynein intermediate chain family.
Family:
  • Belongs to the dynein intermediate chain family.
genes like me logo Genes that share domains with DYNC1I2: view

Function for DYNC1I2 Gene

Molecular function for DYNC1I2 Gene

UniProtKB/Swiss-Prot Function:
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes. Has a critical role in neurodevelopment (PubMed:31079899).

Phenotypes From GWAS Catalog for DYNC1I2 Gene

Gene Ontology (GO) - Molecular Function for DYNC1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity NAS 8522607
GO:0005515 protein binding IPI 25416956
GO:0045503 dynein light chain binding IBA 21873635
GO:0045504 dynein heavy chain binding IBA 21873635
genes like me logo Genes that share ontologies with DYNC1I2: view
genes like me logo Genes that share phenotypes with DYNC1I2: view

Human Phenotype Ontology for DYNC1I2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1I2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DYNC1I2 Gene

Localization for DYNC1I2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC1I2 Gene

Cytoplasm, cytoskeleton. Cytoplasm. Note=Detected in the cytoplasm of pachytene spermatocytes. Localizes to the manchette in elongating spermatids. {ECO:0000250 UniProtKB:O88487}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYNC1I2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
  • Nucleoli (3)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYNC1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 8522607
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005868 cytoplasmic dynein complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with DYNC1I2: view

Pathways & Interactions for DYNC1I2 Gene

genes like me logo Genes that share pathways with DYNC1I2: view

Pathways by source for DYNC1I2 Gene

2 GeneGo (Thomson Reuters) pathways for DYNC1I2 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

Gene Ontology (GO) - Biological Process for DYNC1I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA,NAS 8522607
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0010970 transport along microtubule IBA 21873635
genes like me logo Genes that share ontologies with DYNC1I2: view

No data available for SIGNOR curated interactions for DYNC1I2 Gene

Drugs & Compounds for DYNC1I2 Gene

No Compound Related Data Available

Transcripts for DYNC1I2 Gene

mRNA/cDNA for DYNC1I2 Gene

12 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1I2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1I2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for DYNC1I2 Gene

GeneLoc Exon Structure for
DYNC1I2

Expression for DYNC1I2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DYNC1I2 Gene

Protein differential expression in normal tissues from HIPED for DYNC1I2 Gene

This gene is overexpressed in Fetal Brain (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DYNC1I2 Gene



Protein tissue co-expression partners for DYNC1I2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNC1I2

SOURCE GeneReport for Unigene cluster for DYNC1I2 Gene:

Hs.546250

Evidence on tissue expression from TISSUES for DYNC1I2 Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Liver(4.7)
  • Skin(4.7)
  • Blood(4.5)
  • Intestine(3.2)
  • Lung(3)
  • Heart(2.8)
  • Spleen(2.7)
  • Muscle(2.6)
  • Eye(2.5)
  • Pancreas(2.4)
  • Adrenal gland(2.2)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with DYNC1I2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC1I2 Gene

Orthologs for DYNC1I2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNC1I2 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia DYNC1I2 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia DYNC1I2 30 31
  • 99.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dync1i2 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1I2 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNC1I2 31
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DYNC1I2 30 31
  • 94.28 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DYNC1I2 30 31
  • 83.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYNC1I2 31
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.775 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.139 30
Zebrafish
(Danio rerio)
Actinopterygii DYNC1I2 (3 of 3) 31
  • 84 (a)
OneToMany
dync1i2b 31
  • 83 (a)
OneToMany
dync1i2a 31
  • 74 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Sdic4 31
  • 54 (a)
ManyToMany
Sdic2 31
  • 54 (a)
ManyToMany
Sdic3 31
  • 52 (a)
ManyToMany
Sdic1 31
  • 49 (a)
ManyToMany
sw 31
  • 48 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dyci-1 31
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.507 31
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2485 30
Species where no ortholog for DYNC1I2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DYNC1I2 Gene

ENSEMBL:
Gene Tree for DYNC1I2 (if available)
TreeFam:
Gene Tree for DYNC1I2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNC1I2: view image

Paralogs for DYNC1I2 Gene

Paralogs for DYNC1I2 Gene

(3) SIMAP similar genes for DYNC1I2 Gene using alignment to 15 proteins:

  • DC1I2_HUMAN
  • B7ZA04_HUMAN
  • E7EMU4_HUMAN
  • E7EQL5_HUMAN
  • E7EQU2_HUMAN
  • E7ERH4_HUMAN
  • E7ERR6_HUMAN
  • E7ESD3_HUMAN
  • E7ET01_HUMAN
  • E7ETL8_HUMAN
  • E7EU01_HUMAN
  • E7EUM4_HUMAN
  • E7EV09_HUMAN
  • E9PGG1_HUMAN
  • F8W8S0_HUMAN

Pseudogenes.org Pseudogenes for DYNC1I2 Gene

genes like me logo Genes that share paralogs with DYNC1I2: view

Variants for DYNC1I2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNC1I2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
635399 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 171,725,714(+) G/A SPLICE_DONOR_VARIANT
635400 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 171,726,051(+) A/G MISSENSE_VARIANT
635401 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 171,726,291(+) C/T NONSENSE
rs3821091 Benign: not specified 171,725,602(+) T/G INTRON_VARIANT
VAR_082947 Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492] p.Tyr247Cys

Additional dbSNP identifiers (rs#s) for DYNC1I2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DYNC1I2 Gene

Variant ID Type Subtype PubMed ID
esv3306812 CNV mobile element insertion 20981092
esv3353811 CNV insertion 20981092
nsv511089 OTHER complex 20534489
nsv522519 CNV loss 19592680
nsv834457 CNV loss 17160897

Variation tolerance for DYNC1I2 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNC1I2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC1I2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC1I2 Gene

Disorders for DYNC1I2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DYNC1I2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neurodevelopmental disorder with microcephaly and structural brain anomalies
  • nedmiba
microcephaly
  • microcephalus
ciliary dyskinesia, primary, 9
  • cild9
leukorrhea
  • discharge - leukorrhea
keratoderma, palmoplantar, with deafness
  • palmoplantar keratoderma-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DC1I2_HUMAN
  • Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia. {ECO:0000269 PubMed:31079899}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DYNC1I2

genes like me logo Genes that share disorders with DYNC1I2: view

No data available for Genatlas for DYNC1I2 Gene

Publications for DYNC1I2 Gene

  1. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (PMID: 10049579) Crackower MA … Tsui LC (Genomics 1999) 2 3 23
  2. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. (PMID: 31079899) Ansar M … Antonarakis SE (American journal of human genetics 2019) 3 4
  3. Identification of DH IC-2 as a HIF-1 independent protein involved in the adaptive response to hypoxia in tumor cells: A putative role in metastasis. (PMID: 19744529) Pyr dit Ruys S … Michiels C (Biochimica et biophysica acta 2009) 3 23
  4. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for DYNC1I2 Gene

Sources for DYNC1I2 Gene