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DYNC2I1 dynein 2 intermediate chain 1 [ Homo sapiens (human) ]

Gene ID: 55112, updated on 8-Jul-2021

Summary

Official Symbol
DYNC2I1provided by HGNC
Official Full Name
dynein 2 intermediate chain 1provided by HGNC
Primary source
HGNC:HGNC:21862
See related
Ensembl:ENSG00000126870 MIM:615462
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
DIC6; SRPS6; SRTD8; WDR60; FAP163; CFAP163
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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
Expression
Broad expression in testis (RPKM 15.3), fat (RPKM 3.5) and 21 other tissues See more
Orthologs
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Genomic context

See DYNC2I1 in Genome Data Viewer
Location:
7q36.3
Exon count:
35
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (158839245..158958695)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (158631936..158738880)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 76 Neighboring gene extended synaptotagmin 2 Neighboring gene putative uncharacterized protein FLJ46204 Neighboring gene LINC00689 intron CAGE-defined high expression enhancer Neighboring gene long intergenic non-protein coding RNA 689 Neighboring gene vasoactive intestinal peptide receptor 2 Neighboring gene VISTA enhancer hs1753

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of ten loci associated with height highlights new biological pathways in human growth.
GeneReviews: Not available
Short-rib thoracic dysplasia 8 with or without polydactyly
MedGen: C3809691 OMIM: 615503 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10300, FLJ23575

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intraciliary retrograde transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary plasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary tip TAS
Traceable Author Statement
more info
 
located_in cilium TAS
Traceable Author Statement
more info
 
part_of cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of cytoplasmic dynein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space HDA PubMed 
colocalizes_with interphase microtubule organizing center IDA
Inferred from Direct Assay
more info
PubMed 
located_in pericentriolar material IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytoplasmic dynein 2 intermediate chain 1
Names
WD repeat domain 60
WD repeat-containing protein 60
testicular secretory protein Li 66

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

  1. NG_034051.2 RefSeqGene

    Range
    22314..111945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350914.2NP_001337843.1  cytoplasmic dynein 2 intermediate chain 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC004863, AC124833
    Conserved Domains (3) summary
    COG2319
    Location:581971
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:599627
    7WD40; WD40 repeat [structural motif]
    cl26511
    Location:5289
    Neuromodulin_N; Gap junction protein N-terminal region
  2. NM_001350915.2NP_001337844.1  cytoplasmic dynein 2 intermediate chain 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC004863, AC124833
    Conserved Domains (2) summary
    COG2319
    Location:436826
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:454482
    7WD40; WD40 repeat [structural motif]
  3. NM_001350916.2NP_001337845.1  cytoplasmic dynein 2 intermediate chain 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC004863, AC124833
    Conserved Domains (2) summary
    COG2319
    Location:140530
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:426462
    7WD40; WD40 repeat [structural motif]
  4. NM_001350917.2NP_001337846.1  cytoplasmic dynein 2 intermediate chain 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variant 6, encodes isoform e.
    Source sequence(s)
    AC004863, AC124833
    Conserved Domains (2) summary
    COG2319
    Location:211601
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:497533
    7WD40; WD40 repeat [structural motif]
  5. NM_001350918.2NP_001337847.1  cytoplasmic dynein 2 intermediate chain 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 5, encodes isoform e.
    Source sequence(s)
    AC004863, AC124833
    Conserved Domains (2) summary
    COG2319
    Location:211601
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:497533
    7WD40; WD40 repeat [structural motif]
  6. NM_018051.5NP_060521.4  cytoplasmic dynein 2 intermediate chain 1 isoform a

    See identical proteins and their annotated locations for NP_060521.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC124833, AL137660, BC014491, BM718580, DB072968
    Consensus CDS
    CCDS47757.1
    UniProtKB/Swiss-Prot
    Q8WVS4
    UniProtKB/TrEMBL
    A0A140VK66
    Related
    ENSP00000384290.3, ENST00000407559.8
    Conserved Domains (3) summary
    COG2319
    Location:6271017
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:645673
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:912984
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    158839245..158958695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716041.2XP_006716104.1  cytoplasmic dynein 2 intermediate chain 1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:6301020
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:648676
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:915987
    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 ...
  2. XM_011516368.2XP_011514670.1  cytoplasmic dynein 2 intermediate chain 1 isoform X3

    Conserved Domains (2) summary
    COG2319
    Location:623946
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:648676
    7WD40; WD40 repeat [structural motif]
  3. XM_017012382.1XP_016867871.1  cytoplasmic dynein 2 intermediate chain 1 isoform X5

  4. XM_011516367.2XP_011514669.1  cytoplasmic dynein 2 intermediate chain 1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:6301020
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:648676
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:915987
    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 ...
  5. XM_011516369.2XP_011514671.1  cytoplasmic dynein 2 intermediate chain 1 isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:584974
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:602630
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:869941
    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 ...
  6. XM_017012381.2XP_016867870.1  cytoplasmic dynein 2 intermediate chain 1 isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:584974
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:602630
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:869941
    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 ...
  7. XM_005249549.1XP_005249606.1  cytoplasmic dynein 2 intermediate chain 1 isoform X6

    Conserved Domains (3) summary
    COG2319
    Location:439829
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:457485
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:724796
    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 ...
  8. XM_017012388.1XP_016867877.1  cytoplasmic dynein 2 intermediate chain 1 isoform X7

    Conserved Domains (2) summary
    COG2319
    Location:140530
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:426462
    7WD40; WD40 repeat [structural motif]

RNA

  1. XR_001744823.1 RNA Sequence

  2. XR_001744824.1 RNA Sequence

  3. XR_001744825.1 RNA Sequence

  4. XR_001744826.1 RNA Sequence

  5. XR_428179.2 RNA Sequence

  6. XR_242045.2 RNA Sequence

  7. XR_001744827.1 RNA Sequence

  8. XR_001744828.1 RNA Sequence

  9. XR_002956461.1 RNA Sequence

  10. XR_927486.2 RNA Sequence

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