U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 1781, updated on 7-Apr-2024

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    2q31.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171687469..171750158)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (172164878..172227564)
    105.20220307 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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. Dynein regulates cell migration depending on substrate rigidity. Kim D, et al. Int J Mol Med, 2012 Mar. PMID 22200735
    3. 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
    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. Binding of dynein intermediate chain 2 to paxillin controls focal adhesion dynamics and migration. Rosse C, et al. J Cell Sci, 2012 Aug 15. PMID 22553211

    See all (112) 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

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

    Go to the top of the page Help

    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

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous