Human Gene DYNC1I2 (uc002uha.2)
  Description: Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), transcript variant 1, mRNA.
RefSeq Summary (NM_001378): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:172,543,919-172,606,668 Size: 62,750 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr2:172,546,666-172,604,399 Size: 57,734 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:172,543,919-172,606,668)mRNA (may differ from genome)Protein (638 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: DC1I2_HUMAN
DESCRIPTION: RecName: Full=Cytoplasmic dynein 1 intermediate chain 2; AltName: Full=Cytoplasmic dynein intermediate chain 2; AltName: Full=Dynein intermediate chain 2, cytosolic; Short=DH IC-2;
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.
SUBUNIT: 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 human adenovirus 5 hexon protein; this interaction probably allows virus intracellular transport.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding (By similarity).
SIMILARITY: Belongs to the dynein intermediate chain family.
SIMILARITY: Contains 7 WD repeats.
SEQUENCE CAUTION: Sequence=AAA89166.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Several sequence problems;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DYNC1I2
CDC HuGE Published Literature: DYNC1I2
Positive Disease Associations: Body Height
Related Studies:
  1. Body Height
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: DYNC1I2
Diseases sorted by gene-association score: leukorrhea (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.71 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 1258.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.00228-0.311 Picture PostScript Text
3' UTR -537.822269-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025956 - Dynein_IC_1/2
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF11540 - Cytoplasmic dynein 1 intermediate chain 2

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q13409
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0045503 dynein light chain binding
GO:0045504 dynein heavy chain binding
GO:0008574 ATP-dependent microtubule motor activity, plus-end-directed

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007018 microtubule-based movement
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0010970 transport along microtubule
GO:0016032 viral process
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0097711 ciliary basal body docking
GO:2000582 positive regulation of ATP-dependent microtubule motor activity, plus-end-directed

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005868 cytoplasmic dynein complex
GO:0005874 microtubule
GO:0030286 dynein complex
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  BX537412 - Homo sapiens mRNA; cDNA DKFZp686O1459 (from clone DKFZp686O1459); complete cds.
AK055491 - Homo sapiens cDNA FLJ30929 fis, clone FEBRA2006808, highly similar to DYNEIN INTERMEDIATE CHAIN 2, CYTOSOLIC.
HM005689 - Homo sapiens clone HTL-T-66n testis tissue sperm-binding protein Li 66n mRNA, complete cds.
AK225759 - Homo sapiens mRNA for Splice isoform 2C of Q13409 variant, clone: FCC135A09.
BC091498 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 2, mRNA (cDNA clone MGC:111094 IMAGE:30386904), complete cds.
AY037160 - Homo sapiens cytoplasmic dynein intermediate chain mRNA, complete cds.
AK308008 - Homo sapiens cDNA, FLJ97956.
AK298561 - Homo sapiens cDNA FLJ53290 complete cds, highly similar to Cytoplasmic dynein 1 intermediate chain 2.
AK096579 - Homo sapiens cDNA FLJ39260 fis, clone OCBBF2009352, highly similar to DYNEIN INTERMEDIATE CHAIN 2, CYTOSOLIC.
AK075323 - Homo sapiens cDNA FLJ90842 fis, clone Y79AA1002376, highly similar to Rattus norvegicus cytoplasmic dynein intermediate chain 2B mRNA.
AF250307 - Homo sapiens cytoplasmic dynein intermediate chain 2C mRNA, complete cds.
BC109375 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 2, mRNA (cDNA clone MGC:104199 IMAGE:4608676), complete cds.
AF134477 - Homo sapiens cytoplasmic dynein intermediate chain 2C mRNA, complete cds.
AK316119 - Homo sapiens cDNA, FLJ79018 complete cds, highly similar to Cytoplasmic dynein 1 intermediate chain 2.
BC015038 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 2, mRNA (cDNA clone MGC:9324 IMAGE:3921299), complete cds.
JD491759 - Sequence 472783 from Patent EP1572962.
CU677189 - Synthetic construct Homo sapiens gateway clone IMAGE:100020728 5' read DYNC1I2 mRNA.
AB463591 - Synthetic construct DNA, clone: pF1KB8332, Homo sapiens DYNC1I2 gene for dynein, cytoplasmic 1, intermediate chain 2, without stop codon, in Flexi system.
AM393760 - Synthetic construct Homo sapiens clone IMAGE:100001959 for hypothetical protein (DYNC1I2 gene).
KJ901393 - Synthetic construct Homo sapiens clone ccsbBroadEn_10787 DYNC1I2 gene, encodes complete protein.
BT007130 - Homo sapiens dynein, cytoplasmic, intermediate polypeptide 2 mRNA, complete cds.
AB209014 - Homo sapiens mRNA for dynein, cytoplasmic, intermediate polypeptide 2 variant protein.
U39575 - Human cytoplasmic dynein intermediate chain isoform IC-2, mRNA, partial cds.
JD519429 - Sequence 500453 from Patent EP1572962.
JD386018 - Sequence 367042 from Patent EP1572962.
DQ786324 - Homo sapiens clone HLS_IMAGE_843429 mRNA sequence.
AL832832 - Homo sapiens mRNA; cDNA DKFZp667K2024 (from clone DKFZp667K2024).
AL137519 - Homo sapiens mRNA; cDNA DKFZp434A1518 (from clone DKFZp434A1518); partial cds.
JD039232 - Sequence 20256 from Patent EP1572962.
JD247268 - Sequence 228292 from Patent EP1572962.
JD184464 - Sequence 165488 from Patent EP1572962.
AK026574 - Homo sapiens cDNA: FLJ22921 fis, clone KAT06711.
JD560371 - Sequence 541395 from Patent EP1572962.
AK301866 - Homo sapiens cDNA FLJ55471 complete cds, highly similar to Cytoplasmic dynein 1 intermediate chain 2.
AK024742 - Homo sapiens cDNA: FLJ21089 fis, clone CAS03534.
DQ786313 - Homo sapiens clone HLS_IMAGE_809714 mRNA sequence.
JD263316 - Sequence 244340 from Patent EP1572962.
JD243659 - Sequence 224683 from Patent EP1572962.
JD083497 - Sequence 64521 from Patent EP1572962.
JD317078 - Sequence 298102 from Patent EP1572962.
JD225869 - Sequence 206893 from Patent EP1572962.
JD225870 - Sequence 206894 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04962 - Vasopressin-regulated water reabsorption

Reactome (by CSHL, EBI, and GO)

Protein Q13409 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2132295 MHC class II antigen presentation
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-195258 RHO GTPase Effectors
R-HSA-1280218 Adaptive Immune System
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-1640170 Cell Cycle
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-162582 Signal Transduction
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: D3DPD4, D3DPD5, D3DPD6, DC1I2_HUMAN, DNCI2, DNCIC2, NM_001378, NP_001369, Q13409, Q32LY9, Q53S84, Q5BJF8, Q7Z4X1, Q96NG7, Q96S87, Q9BXZ5, Q9NT58, uc002uha.1
UCSC ID: uc002uha.2
RefSeq Accession: NM_001378
Protein: Q13409 (aka DC1I2_HUMAN)
CCDS: CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001378.2
exon count: 18CDS single in 3' UTR: no RNA size: 4414
ORF size: 1917CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4034.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.