Human Gene WDR62 (ENST00000401500.7_10) from GENCODE V47lift37
  Description: WD repeat domain 62, transcript variant 1 (from RefSeq NM_001083961.2)
Gencode Transcript: ENST00000401500.7_10
Gencode Gene: ENSG00000075702.19_19
Transcript (Including UTRs)
   Position: hg19 chr19:36,545,799-36,596,010 Size: 50,212 Total Exon Count: 32 Strand: +
Coding Region
   Position: hg19 chr19:36,545,874-36,595,930 Size: 50,057 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:36,545,799-36,596,010)mRNA (may differ from genome)Protein (1523 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR62_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 62;
FUNCTION: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis.
TISSUE SPECIFICITY: Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells.
DISEASE: Defects in WDR62 are the cause of microcephaly primary type 2 (MCPH2) [MIM:604317]. A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
SIMILARITY: Contains 15 WD repeats.
SEQUENCE CAUTION: Sequence=AAC27979.1; Type=Erroneous gene model prediction; Sequence=AAH17261.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: WDR62
Diseases sorted by gene-association score: microcephaly 2, primary, autosomal recessive, with or without cortical malformations* (1231), primary autosomal recessive microcephaly type 2* (500), microcephaly, cortical malformations, and mental retardation* (100), autosomal recessive primary microcephaly* (84), second-degree atrioventricular block (16), microcephaly (13), schizencephaly (8), pachygyria (7), congenital nervous system abnormality (6), physical disorder (4), nephronophthisis (2)
* = Manually curated disease association

-  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: 61.41 RPKM in Testis
Total median expression: 93.13 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 -37.6075-0.501 Picture PostScript Text
3' UTR -18.5080-0.231 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
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF12894 - Anaphase-promoting complex subunit 4 WD40 domain

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD 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
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50985 - RCC1/BLIP-II
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on O43379
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0007052 mitotic spindle organization
GO:0007099 centriole replication
GO:0007399 nervous system development
GO:0008380 RNA splicing
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis

Cellular Component:
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005682 U5 snRNP
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  LF207596 - JP 2014500723-A/15099: Polycomb-Associated Non-Coding RNAs.
BC058939 - Homo sapiens WD repeat domain 62, mRNA (cDNA clone IMAGE:4510905).
BX647726 - Homo sapiens mRNA; cDNA DKFZp686G1024 (from clone DKFZp686G1024).
MA443173 - JP 2018138019-A/15099: Polycomb-Associated Non-Coding RNAs.
AK090617 - Homo sapiens cDNA FLJ33298 fis, clone BNGH42001576, moderately similar to Mus musculus mRNA for JNK-binding protein JNKBP1.
AX746536 - Sequence 61 from Patent EP1308459.
BC151839 - Homo sapiens WD repeat domain 62, mRNA (cDNA clone IMAGE:8860309), with apparent retained intron.
LF367337 - JP 2014500723-A/174840: Polycomb-Associated Non-Coding RNAs.
LF367334 - JP 2014500723-A/174837: Polycomb-Associated Non-Coding RNAs.
LF367333 - JP 2014500723-A/174836: Polycomb-Associated Non-Coding RNAs.
LF367331 - JP 2014500723-A/174834: Polycomb-Associated Non-Coding RNAs.
MA602914 - JP 2018138019-A/174840: Polycomb-Associated Non-Coding RNAs.
MA602911 - JP 2018138019-A/174837: Polycomb-Associated Non-Coding RNAs.
MA602910 - JP 2018138019-A/174836: Polycomb-Associated Non-Coding RNAs.
MA602908 - JP 2018138019-A/174834: Polycomb-Associated Non-Coding RNAs.
BC017261 - Homo sapiens WD repeat domain 62, mRNA (cDNA clone IMAGE:4121633), complete cds.
JD288409 - Sequence 269433 from Patent EP1572962.
JD364035 - Sequence 345059 from Patent EP1572962.
JD370395 - Sequence 351419 from Patent EP1572962.
LF367325 - JP 2014500723-A/174828: Polycomb-Associated Non-Coding RNAs.
JD449238 - Sequence 430262 from Patent EP1572962.
JD331294 - Sequence 312318 from Patent EP1572962.
JD503545 - Sequence 484569 from Patent EP1572962.
JD197336 - Sequence 178360 from Patent EP1572962.
JD239550 - Sequence 220574 from Patent EP1572962.
AL133651 - Homo sapiens mRNA; cDNA DKFZp434E012 (from clone DKFZp434E012).
JD208894 - Sequence 189918 from Patent EP1572962.
JD412356 - Sequence 393380 from Patent EP1572962.
JD118141 - Sequence 99165 from Patent EP1572962.
JD400755 - Sequence 381779 from Patent EP1572962.
KU178897 - Homo sapiens WD repeat domain 62 isoform 1 (WDR62) mRNA, partial cds.
KU178898 - Homo sapiens WD repeat domain 62 isoform 2 (WDR62) mRNA, partial cds.
KU178899 - Homo sapiens WD repeat domain 62 isoform 3 (WDR62) mRNA, partial cds, alternatively spliced.
CU677891 - Synthetic construct Homo sapiens gateway clone IMAGE:100019964 5' read WDR62 mRNA.
KJ906477 - Synthetic construct Homo sapiens clone ccsbBroadEn_16147 WDR62 gene, encodes complete protein.
JF432250 - Synthetic construct Homo sapiens clone IMAGE:100073418 WD repeat domain 62 (WDR62) gene, encodes complete protein.
LF367324 - JP 2014500723-A/174827: Polycomb-Associated Non-Coding RNAs.
LF367323 - JP 2014500723-A/174826: Polycomb-Associated Non-Coding RNAs.
AL117438 - Homo sapiens mRNA; cDNA DKFZp434J046 (from clone DKFZp434J046); partial cds.
LF367321 - JP 2014500723-A/174824: Polycomb-Associated Non-Coding RNAs.
BC128417 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian), mRNA (cDNA clone IMAGE:40117683), partial cds.
LF367320 - JP 2014500723-A/174823: Polycomb-Associated Non-Coding RNAs.
LF367319 - JP 2014500723-A/174822: Polycomb-Associated Non-Coding RNAs.
JD538098 - Sequence 519122 from Patent EP1572962.
MA602902 - JP 2018138019-A/174828: Polycomb-Associated Non-Coding RNAs.
MA602901 - JP 2018138019-A/174827: Polycomb-Associated Non-Coding RNAs.
MA602900 - JP 2018138019-A/174826: Polycomb-Associated Non-Coding RNAs.
MA602898 - JP 2018138019-A/174824: Polycomb-Associated Non-Coding RNAs.
MA602897 - JP 2018138019-A/174823: Polycomb-Associated Non-Coding RNAs.
MA602896 - JP 2018138019-A/174822: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C19orf14, ENST00000401500.1, ENST00000401500.2, ENST00000401500.3, ENST00000401500.4, ENST00000401500.5, ENST00000401500.6, NM_001083961, O43379, Q63HP9, Q659D7, Q8NBF7, Q96AD9, uc319bko.1, uc319bko.2, WDR62_HUMAN
UCSC ID: ENST00000401500.7_10
RefSeq Accession: NM_001083961.2
Protein: O43379 (aka WDR62_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR62:
wdr62-pm (WDR62 Primary Microcephaly)

-  Gene Model Information
  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.