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 tran... See more...

Aliases for DYNC2I1 Gene

Aliases for DYNC2I1 Gene

  • Dynein 2 Intermediate Chain 1 2 3
  • WD Repeat Domain 60 2 3 5
  • WD Repeat-Containing Protein 60 3 4
  • CFAP163 2 3
  • FAP163 2 3
  • WDR60 3 5
  • DIC6 2 3
  • Testicular Secretory Protein Li 66 3
  • FLJ10300 2
  • SRPS6 3
  • SRTD8 3

External Ids for DYNC2I1 Gene

Previous HGNC Symbols for DYNC2I1 Gene

  • WDR60

Summaries for DYNC2I1 Gene

Entrez Gene Summary for DYNC2I1 Gene

  • 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]

GeneCards Summary for DYNC2I1 Gene

DYNC2I1 (Dynein 2 Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC2I1 include Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is DNAI4.

UniProtKB/Swiss-Prot Summary for DYNC2I1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNC2I1 Gene

Genomics for DYNC2I1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNC2I1 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
GH07J158855 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 656.1 +18.6 18571 4.8 CREB1 GATAD2A HNRNPL TEAD4 PRDM10 ZNF629 TFE3 ZNF512 RFX1 LEF1 DYNC2I1 ESYT2 NCAPG2 LINC00689 lnc-WDR60-8 piR-40348-054 VIPR2
GH07J158827 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 604.8 -10.2 -10219 4.1 SP1 CREB1 HNRNPL ATF7 PRDM10 ZNF629 LEF1 IKZF1 NFKBIZ CTCF ESYT2 DYNC2I1 lnc-ESYT2-1 lnc-WDR60-13 NCAPG2 piR-45783 LOC105379752
GH07J158879 Promoter 0.3 EPDnew 600.3 +40.4 40442 0.1 RF00017-6812 DYNC2I1 ESYT2 piR-40348-054 VIPR2
GH07J158838 Enhancer 0.3 Ensembl 600.7 -0.4 -444 0.4 ZNF600 DYNC2I1 ESYT2 lnc-WDR60-13 piR-43543
GH07J158860 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 64.3 +24.5 24481 6 ARHGAP35 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST LEF1 IKZF1 ZNF692 piR-40348-054 DYNC2I1 ESYT2 NCAPG2 LINC00689 RF00017-6812 VIPR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNC2I1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNC2I1

Genomic Locations for DYNC2I1 Gene

Genomic Locations for DYNC2I1 Gene
chr7:158,839,245-158,958,695
(GRCh38/hg38)
Size:
119,451 bases
Orientation:
Plus strand
chr7:158,649,269-158,749,438
(GRCh37/hg19)
Size:
100,170 bases
Orientation:
Plus strand

Genomic View for DYNC2I1 Gene

Genes around DYNC2I1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC2I1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC2I1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC2I1 Gene

Proteins for DYNC2I1 Gene

  • Protein details for DYNC2I1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVS4-WDR60_HUMAN
    Recommended name:
    WD repeat-containing protein 60
    Protein Accession:
    Q8WVS4
    Secondary Accessions:
    • Q9NW58

    Protein attributes for DYNC2I1 Gene

    Size:
    1066 amino acids
    Molecular mass:
    122571 Da
    Quaternary structure:
    • Interacts with TCTEX1D2.
    SequenceCaution:
    • Sequence=BAA91528.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYNC2I1 Gene

neXtProt entry for DYNC2I1 Gene

Post-translational modifications for DYNC2I1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYNC2I1 Gene

Domains & Families for DYNC2I1 Gene

Gene Families for DYNC2I1 Gene

Protein Domains for DYNC2I1 Gene

Suggested Antigen Peptide Sequences for DYNC2I1 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 60 (WDR60_HUMAN)
genes like me logo Genes that share domains with DYNC2I1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DYNC2I1 Gene

Function for DYNC2I1 Gene

Molecular function for DYNC2I1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in ciliogenesis.

Phenotypes From GWAS Catalog for DYNC2I1 Gene

Gene Ontology (GO) - Molecular Function for DYNC2I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25036637
GO:0045503 dynein light chain binding IPI 25830415
GO:0045504 dynein heavy chain binding IBA 21873635
genes like me logo Genes that share ontologies with DYNC2I1: view
genes like me logo Genes that share phenotypes with DYNC2I1: view

Human Phenotype Ontology for DYNC2I1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DYNC2I1 Gene

miRTarBase miRNAs that target DYNC2I1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC2I1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DYNC2I1 Gene

Localization for DYNC2I1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC2I1 Gene

Cell projection, cilium. Note=Located at the base of the primary cilium in serum-starved fibroblasts.

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 DYNC2I1 gene
Compartment Confidence
cytoskeleton 5
extracellular 4
nucleus 3
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYNC2I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 25205765
GO:0000922 colocalizes_with spindle pole IDA 25830415
GO:0005615 extracellular space HDA 22664934
GO:0005813 colocalizes_with centrosome IDA 25830415
GO:0005868 cytoplasmic dynein complex IDA 25205765
genes like me logo Genes that share ontologies with DYNC2I1: view

Pathways & Interactions for DYNC2I1 Gene

genes like me logo Genes that share pathways with DYNC2I1: view

Pathways by source for DYNC2I1 Gene

Gene Ontology (GO) - Biological Process for DYNC2I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IBA 21873635
GO:0010970 transport along microtubule IBA --
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0042073 intraciliary transport IBA 21873635
genes like me logo Genes that share ontologies with DYNC2I1: view

No data available for SIGNOR curated interactions for DYNC2I1 Gene

Drugs & Compounds for DYNC2I1 Gene

No Compound Related Data Available

Transcripts for DYNC2I1 Gene

mRNA/cDNA for DYNC2I1 Gene

6 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 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 DYNC2I1

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC2I1 Gene

No ASD Table

Relevant External Links for DYNC2I1 Gene

GeneLoc Exon Structure for
DYNC2I1

Expression for DYNC2I1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNC2I1

SOURCE GeneReport for Unigene cluster for DYNC2I1 Gene:

Hs.389945

mRNA Expression by UniProt/SwissProt for DYNC2I1 Gene:

Q8WVS4-WDR60_HUMAN
Tissue specificity: Expressed in chondrocytes (at protein level).

Evidence on tissue expression from TISSUES for DYNC2I1 Gene

  • Pancreas(4.1)
  • Kidney(2.3)
  • Nervous system(2.3)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC2I1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DYNC2I1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DYNC2I1 Gene

Orthologs for DYNC2I1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNC2I1 Gene

Organism Taxonomy Gene Similarity Type Details
Rat
(Rattus norvegicus)
Mammalia Wdr60 30
  • 78.27 (n)
Mouse
(Mus musculus)
Mammalia Wdr60 30 17 31
  • 78.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WDR60 30 31
  • 78.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WDR60 30 31
  • 72.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia WDR60 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WDR60 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves WDR60 30 31
  • 58.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WDR60 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wdr60 30
  • 53.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100330581 30
  • 51.49 (n)
WDR60 31
  • 40 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG15701 31
  • 18 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C27F2.1 31
  • 19 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2615 31
  • 31 (a)
OneToOne
Species where no ortholog for DYNC2I1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chimpanzee (Pan troglodytes)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 DYNC2I1 Gene

ENSEMBL:
Gene Tree for DYNC2I1 (if available)
TreeFam:
Gene Tree for DYNC2I1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNC2I1: view image

Paralogs for DYNC2I1 Gene

Paralogs for DYNC2I1 Gene

genes like me logo Genes that share paralogs with DYNC2I1: view

Variants for DYNC2I1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNC2I1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
662025 Uncertain Significance: Short-rib thoracic dysplasia 8 with or without polydactyly 158,927,048(+) C/A INTRON_VARIANT
664414 Uncertain Significance: Short-rib thoracic dysplasia 8 with or without polydactyly 158,871,188(+) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
707022 Likely Benign: not provided 158,879,986(+) C/T MISSENSE_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
707029 Likely Benign: Short-rib thoracic dysplasia 8 with or without polydactyly 158,891,314(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
707041 Benign: Short-rib thoracic dysplasia 8 with or without polydactyly 158,926,283(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DYNC2I1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DYNC2I1 Gene

Variant ID Type Subtype PubMed ID
dgv11804n54 CNV gain 21841781
dgv4030e59 CNV duplication 20981092
dgv4031e59 CNV duplication 20981092
dgv438n21 CNV gain 19592680
dgv6772n100 CNV gain 25217958
esv1008368 CNV insertion 20482838
esv1245660 CNV deletion 17803354
esv1379791 CNV insertion 17803354
esv1473673 CNV deletion 17803354
esv1582813 CNV insertion 17803354
esv1742608 CNV insertion 17803354
esv2492959 CNV deletion 19546169
esv2669394 CNV deletion 23128226
esv28360 CNV gain+loss 19812545
esv3399474 CNV insertion 20981092
esv3542823 CNV deletion 23714750
esv3542826 CNV deletion 23714750
esv3576497 CNV gain 25503493
esv3615741 CNV gain 21293372
esv3615746 CNV gain 21293372
esv3615748 CNV gain 21293372
esv3615749 CNV gain 21293372
esv3615753 CNV gain 21293372
esv3891247 CNV gain 25118596
esv9128 CNV loss 19470904
nsv1025959 CNV gain 25217958
nsv1032688 CNV loss 25217958
nsv1115768 CNV duplication 24896259
nsv18 CNV insertion 15895083
nsv465262 CNV gain 19166990
nsv509238 CNV insertion 20534489
nsv519749 CNV loss 19592680
nsv526756 CNV gain 19592680
nsv527634 CNV gain 19592680
nsv6028 CNV insertion 18451855
nsv609363 CNV loss 21841781
nsv609419 CNV gain 21841781
nsv609421 CNV loss 21841781
nsv609423 CNV gain 21841781
nsv609424 CNV gain 21841781
nsv8250 CNV gain 18304495

Variation tolerance for DYNC2I1 Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNC2I1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC2I1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC2I1 Gene

Disorders for DYNC2I1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for DYNC2I1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WDR60_HUMAN
  • Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:23910462, ECO:0000269 PubMed:25492405}. Note=The disease is caused by mutations affecting the gene represented in this entry. Fibroblasts from affected individuals exhibit a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme.
genes like me logo Genes that share disorders with DYNC2I1: view

No data available for Genatlas for DYNC2I1 Gene

Publications for DYNC2I1 Gene

  1. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. (PMID: 23910462) McInerney-Leo AM … Wicking C (American journal of human genetics 2013) 2 3 4
  2. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 26044572) Schmidts M … Witman GB (Nature communications 2015) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3

Products for DYNC2I1 Gene

Sources for DYNC2I1 Gene