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DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 [ Homo sapiens (human) ]

Gene ID: 1781, updated on 27-Nov-2024

Summary

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Official Symbol
DYNC1I2provided by HGNC
Official Full Name
dynein cytoplasmic 1 intermediate chain 2provided by HGNC
Primary source
HGNC:HGNC:2964
See related
Ensembl:ENSG00000077380 MIM:603331; AllianceGenome:HGNC:2964
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
IC2; DIC74; DNCI2; NEDMIBA
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 28.2), endometrium (RPKM 25.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See DYNC1I2 in Genome Data Viewer
Location:
2q31.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171687469..171750158)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (172164878..172227564)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172543979..172606668)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12104 Neighboring gene cytochrome b reductase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172424417-172424588 Neighboring gene ribosomal protein L21 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16759 Neighboring gene MPRA-validated peak3925 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:172631779-172632398 Neighboring gene NANOG hESC enhancer GRCh37_chr2:172654669-172655199 Neighboring gene solute carrier family 25 member 12 Neighboring gene RNA, U6 small nuclear 182, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:172750400-172750966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:172750967-172751533 Neighboring gene uncharacterized LOC105373739

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Dynein intermediate chain 2c (DNCI2c) complex is essential for exiting Mad2-dependent spindle assembly checkpoint. Habu T, et al. Biochim Biophys Acta Mol Cell Res, 2021 Nov. PMID 34400173
  2. Levels of kinesin light chain and dynein intermediate chain are reduced in the frontal cortex in Alzheimer's disease: implications for axoplasmic transport. Morel M, et al. Acta Neuropathol, 2012 Jan. PMID 22094641
  3. Dynein regulates cell migration depending on substrate rigidity. Kim D, et al. Int J Mol Med, 2012 Mar. PMID 22200735
  4. Specificity of cytoplasmic dynein subunits in discrete membrane-trafficking steps. Palmer KJ, et al. Mol Biol Cell, 2009 Jun. PMID 19386764, Free PMC Article
  5. 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. Pyr dit Ruys S, et al. Biochim Biophys Acta, 2009 Nov. PMID 19744529

See all (129) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dynein intermediate chain 2c (DNCI2c) complex is essential for exiting Mad2-dependent spindle assembly checkpoint.
    Title: Dynein intermediate chain 2c (DNCI2c) complex is essential for exiting Mad2-dependent spindle assembly checkpoint.
  2. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
    Title: Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
  3. SQSTM1 is required for proper dynein motility and trafficking along microtubules.
    Title: Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking.
  4. Using mouse cells as a model, show that Par3 associates with dynein by interacting with dynein light intermediate chain 2.
    Title: Par3 and dynein associate to regulate local microtubule dynamics and centrosome orientation during migration.
Submit: New GeneRIF Correction

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
Neurodevelopmental disorder with microcephaly and structural brain anomalies
MedGen: C5193123 OMIM: 618492 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
capsid gag HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9324, FLJ21089, FLJ90842, MGC104199, MGC111094

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 microtubule motor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in microtubule-based movement NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
part_of cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of dynein complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytoplasmic dynein 1 intermediate chain 2
Names
DH IC-2
dynein intermediate chain 2, cytosolic
dynein, cytoplasmic, intermediate polypeptide 2
testis tissue sperm-binding protein Li 66n

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.

mRNA and Protein(s)

  1. NM_001271785.2 → NP_001258714.1  cytoplasmic dynein 1 intermediate chain 2 isoform 1

    See identical proteins and their annotated locations for NP_001258714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC068039, AK055491, AK096579
    Consensus CDS
    CCDS46450.1
    UniProtKB/Swiss-Prot
    B7ZA04, D3DPD4, D3DPD5, D3DPD6, Q13409, Q32LY9, Q53S84, Q5BJF8, Q7Z4X1, Q96NG7, Q96S87, Q9BXZ5, Q9NT58
    UniProtKB/TrEMBL
    A0A140VKE9, B4DPZ3
    Related
    ENSP00000386415.1, ENST00000409773.5
    Conserved Domains (3) summary
    COG2319
    Location:329 → 599
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:339 → 377
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:135 → 163
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  2. NM_001271786.2 → NP_001258715.1  cytoplasmic dynein 1 intermediate chain 2 isoform 2

    See identical proteins and their annotated locations for NP_001258715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter and contains an additional internal region, compared to isoform 1. Both variants 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AC068039, AK298561, BC091498, DA435365
    Consensus CDS
    CCDS63054.1
    UniProtKB/TrEMBL
    B4DPZ3
    Related
    ENSP00000386522.3, ENST00000410079.7
    Conserved Domains (3) summary
    COG2319
    Location:321 → 591
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:331 → 369
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:127 → 155
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  3. NM_001271787.2 → NP_001258716.1  cytoplasmic dynein 1 intermediate chain 2 isoform 2

    See identical proteins and their annotated locations for NP_001258716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter and contains an additional internal region, compared to isoform 1. Both variants 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AC064826, AC068039, AK316119
    Consensus CDS
    CCDS63054.1
    UniProtKB/TrEMBL
    B4DPZ3
    Conserved Domains (3) summary
    COG2319
    Location:321 → 591
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:331 → 369
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:127 → 155
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  4. NM_001271788.2 → NP_001258717.1  cytoplasmic dynein 1 intermediate chain 2 isoform 3

    See identical proteins and their annotated locations for NP_001258717.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1. Both variants 5 and 6 encode the same isoform (3).
    Source sequence(s)
    AC068039, BC091498, DA435365
    Consensus CDS
    CCDS63056.1
    UniProtKB/TrEMBL
    B4DPZ3
    Related
    ENSP00000339430.4, ENST00000340296.8
    Conserved Domains (3) summary
    COG2319
    Location:303 → 573
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:313 → 351
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:109 → 137
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  5. NM_001271789.2 → NP_001258718.1  cytoplasmic dynein 1 intermediate chain 2 isoform 3

    See identical proteins and their annotated locations for NP_001258718.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1. Both variants 5 and 6 encode the same isoform (3).
    Source sequence(s)
    AC064826, AC068039, AF250307
    Consensus CDS
    CCDS63056.1
    UniProtKB/TrEMBL
    B4DPZ3
    Related
    ENSP00000386397.1, ENST00000409197.5
    Conserved Domains (3) summary
    COG2319
    Location:303 → 573
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:313 → 351
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:109 → 137
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  6. NM_001271790.2 → NP_001258719.1  cytoplasmic dynein 1 intermediate chain 2 isoform 4

    See identical proteins and their annotated locations for NP_001258719.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1. Both variants 7 and 8 encode the same isoform (4).
    Source sequence(s)
    AC068039, AY037160, DA435365
    Consensus CDS
    CCDS63057.1
    UniProtKB/TrEMBL
    B4DPZ3
    Related
    ENSP00000423339.1, ENST00000508530.5
    Conserved Domains (3) summary
    COG2319
    Location:303 → 573
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:313 → 351
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:109 → 137
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  7. NM_001320882.2 → NP_001307811.1  cytoplasmic dynein 1 intermediate chain 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1. Both variants 9 and 10 encode the same isoform (5).
    Source sequence(s)
    AC068039, AK096579, DA435365
    Consensus CDS
    CCDS82533.1
    UniProtKB/TrEMBL
    B4DPZ3
    Conserved Domains (3) summary
    COG2319
    Location:323 → 593
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:333 → 371
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:129 → 157
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  8. NM_001320883.2 → NP_001307812.1  cytoplasmic dynein 1 intermediate chain 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1. Both variants 9 and 10 encode the same isoform (5).
    Source sequence(s)
    AC068039, AF250307, AK096579, BP355434
    Consensus CDS
    CCDS82533.1
    UniProtKB/TrEMBL
    B4DPZ3
    Related
    ENSP00000386591.1, ENST00000409317.5
    Conserved Domains (3) summary
    COG2319
    Location:323 → 593
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:333 → 371
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:129 → 157
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  9. NM_001320884.2 → NP_001307813.1  cytoplasmic dynein 1 intermediate chain 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1. Both variants 7 and 8 encode the same isoform (4).
    Source sequence(s)
    AC068039, AF250307, BP355434
    Consensus CDS
    CCDS63057.1
    UniProtKB/TrEMBL
    B4DPZ3
    Conserved Domains (3) summary
    COG2319
    Location:303 → 573
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:313 → 351
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:109 → 137
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  10. NM_001378.3 → NP_001369.1  cytoplasmic dynein 1 intermediate chain 2 isoform 1

    See identical proteins and their annotated locations for NP_001369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC068039, AK055491, BC091498, DA435365
    Consensus CDS
    CCDS46450.1
    UniProtKB/Swiss-Prot
    B7ZA04, D3DPD4, D3DPD5, D3DPD6, Q13409, Q32LY9, Q53S84, Q5BJF8, Q7Z4X1, Q96NG7, Q96S87, Q9BXZ5, Q9NT58
    UniProtKB/TrEMBL
    A0A140VKE9, B4DPZ3
    Related
    ENSP00000380308.3, ENST00000397119.8
    Conserved Domains (3) summary
    COG2319
    Location:329 → 599
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:339 → 377
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:135 → 163
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  11. NM_001378455.1 → NP_001365384.1  cytoplasmic dynein 1 intermediate chain 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC064826, AC068039
    UniProtKB/TrEMBL
    B4DPZ3
    Conserved Domains (3) summary
    COG2319
    Location:323 → 593
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:333 → 371
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:129 → 157
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

  12. NM_001378456.1 → NP_001365385.1  cytoplasmic dynein 1 intermediate chain 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC064826, AC068039
    UniProtKB/TrEMBL
    B4DPZ3
    Related
    ENSP00000386886.1, ENST00000409453.5
    Conserved Domains (3) summary
    COG2319
    Location:323 → 593
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:333 → 371
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:129 → 157
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    171687469..171750158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791761.1 Reference GRCh38.p14 PATCHES

    Range
    117642..180331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    172164878..172227564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13409.3 GenPept UniProtKB/Swiss-Prot:Q13409

Gene LinkOut

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