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    WDR62 WD repeat domain 62 [ Homo sapiens (human) ]

    Gene ID: 284403, updated on 2-Nov-2024

    Summary

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    Official Symbol
    WDR62provided by HGNC
    Official Full Name
    WD repeat domain 62provided by HGNC
    Primary source
    HGNC:HGNC:24502
    See related
    Ensembl:ENSG00000075702 MIM:613583; AllianceGenome:HGNC:24502
    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
    MCPH2; C19orf14
    Summary
    This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
    Expression
    Biased expression in testis (RPKM 39.3), bone marrow (RPKM 4.7) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR62 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36054897..36111145)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38600696..38656963)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36545799..36596010)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14514 Neighboring gene uncharacterized LOC101927572 Neighboring gene CAP-Gly domain containing linker protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36526501-36526674 Neighboring gene THAP domain containing 8 Neighboring gene RNY5 pseudogene 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36591509-36592010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36601644-36602274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36602275-36602904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36604761-36605272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14516 Neighboring gene ovo like zinc finger 3 Neighboring gene RNA polymerase II subunit I Neighboring gene tubulin folding cofactor B

    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 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. Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly. Aslam K, et al. Mol Biol Rep, 2024 Jun 26. PMID 38926176
    2. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature. Zombor M, et al. J Appl Genet, 2019 May. PMID 30706430
    3. A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report. Cherkaoui Jaouad I, et al. BMC Med Genet, 2018 Jul 18. PMID 30021525, Free PMC Article
    4. Severe presentation of WDR62 mutation: is there a role for modifying genetic factors? Poulton CJ, et al. Am J Med Genet A, 2014 Sep. PMID 24842779
    5. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family. Naseer MI, et al. Ann Saudi Med, 2017 Mar-Apr. PMID 28377545, Free PMC Article

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
      Title: Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
    2. WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.
      Title: WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.
    3. WD repeat domain 62 (WDR62) promotes resistance of colorectal cancer to oxaliplatin through modulating mitogen-activated protein kinase (MAPK) signaling.
      Title: WD repeat domain 62 (WDR62) promotes resistance of colorectal cancer to oxaliplatin through modulating mitogen-activated protein kinase (MAPK) signaling.
    4. Neurological outcome in WDR62 primary microcephaly.
      Title: Neurological outcome in WDR62 primary microcephaly.
    5. Systematic Analysis of the Oncogenic Role of WDR62 in Human Tumors.
      Title: Systematic Analysis of the Oncogenic Role of WDR62 in Human Tumors.
    6. WDR62 regulates spindle dynamics as an adaptor protein between TPX2/Aurora A and katanin.
      Title: WDR62 regulates spindle dynamics as an adaptor protein between TPX2/Aurora A and katanin.
    7. WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation.
      Title: WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation.
    8. An integrated functional and clinical genomics approach reveals genes driving aggressive metastatic prostate cancer.
      Title: An integrated functional and clinical genomics approach reveals genes driving aggressive metastatic prostate cancer.
    9. Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
      Title: Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
    10. relative WDR62 mRNA expression was not statistically different in differentiated thyroid carcinoma tissues and goiter tissues
      Title: Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33298, MGC166976, DKFZp434J046, DKFZp686G1024

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of centrosome cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WD repeat-containing protein 62
    Names
    microcephaly, primary autosomal recessive 2

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_028101.2 RefSeqGene

      Range
      5002..55213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083961.2 → NP_001077430.1  WD repeat-containing protein 62 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004144, AK090617, AW029580, BC058939
      Consensus CDS
      CCDS46059.1
      UniProtKB/TrEMBL
      A0A7P0TBE7
      Related
      ENSP00000384792.1, ENST00000401500.7
      Conserved Domains (3) summary
      COG2319
      Location:436 → 744
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:498 → 532
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:492 → 744
      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. NM_001411145.1 → NP_001398074.1  WD repeat-containing protein 62 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004144, AD000813
      Consensus CDS
      CCDS92603.1
      UniProtKB/TrEMBL
      A0A7P0TAK3
      Related
      ENSP00000506226.1, ENST00000679682.1

    3. NM_001411146.1 → NP_001398075.1  WD repeat-containing protein 62 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC004144, AD000813
      Consensus CDS
      CCDS92602.1
      UniProtKB/TrEMBL
      A0A7P0T9D9
      Related
      ENSP00000505582.1, ENST00000680564.1

    4. NM_001411147.1 → NP_001398076.1  WD repeat-containing protein 62 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC004144, AD000813
      Consensus CDS
      CCDS92604.1
      UniProtKB/TrEMBL
      A0A7P0Z436
      Related
      ENSP00000505158.1, ENST00000679757.1

    5. NM_173636.5 → NP_775907.4  WD repeat-containing protein 62 isoform 2

      See identical proteins and their annotated locations for NP_775907.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC004144, AK090617, AW029580, BC017261, BC058939
      Consensus CDS
      CCDS33001.1
      UniProtKB/Swiss-Prot
      O43379, Q63HP9, Q659D7, Q8NBF7, Q96AD9
      UniProtKB/TrEMBL
      A0A7P0TBE7
      Related
      ENSP00000270301.6, ENST00000270301.12
      Conserved Domains (3) summary
      COG2319
      Location:436 → 744
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:498 → 532
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:492 → 744
      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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      36054897..36111145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026665.2 → XP_016882154.1  WD repeat-containing protein 62 isoform X1

      UniProtKB/TrEMBL
      A0A7P0TBE7
      Conserved Domains (3) summary
      COG2319
      Location:436 → 744
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:498 → 532
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:492 → 744
      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_005258809.3 → XP_005258866.1  WD repeat-containing protein 62 isoform X3

      UniProtKB/TrEMBL
      A0A7P0TBE7
      Conserved Domains (3) summary
      COG2319
      Location:436 → 788
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:498 → 532
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:492 → 744
      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 ...

    3. XM_047438658.1 → XP_047294614.1  WD repeat-containing protein 62 isoform X4

    4. XM_047438657.1 → XP_047294613.1  WD repeat-containing protein 62 isoform X2

    5. XM_047438659.1 → XP_047294615.1  WD repeat-containing protein 62 isoform X5

    6. XM_047438660.1 → XP_047294616.1  WD repeat-containing protein 62 isoform X6

    7. XM_047438661.1 → XP_047294617.1  WD repeat-containing protein 62 isoform X7

    8. XM_047438662.1 → XP_047294618.1  WD repeat-containing protein 62 isoform X8

    9. XM_047438663.1 → XP_047294619.1  WD repeat-containing protein 62 isoform X9

    10. XM_047438664.1 → XP_047294620.1  WD repeat-containing protein 62 isoform X10

    11. XM_047438665.1 → XP_047294621.1  WD repeat-containing protein 62 isoform X11

    12. XM_011526840.3 → XP_011525142.1  WD repeat-containing protein 62 isoform X12

      Conserved Domains (3) summary
      COG2319
      Location:100 → 408
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:162 → 196
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:156 → 408
      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 ...

    13. XM_047438666.1 → XP_047294622.1  WD repeat-containing protein 62 isoform X13

    14. XM_011526841.3 → XP_011525143.1  WD repeat-containing protein 62 isoform X14

      Conserved Domains (3) summary
      PHA03247
      Location:709 → 939
      PHA03247; large tegument protein UL36; Provisional
      sd00039
      Location:24 → 58
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:18 → 270
      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 ...

    15. XM_011526842.2 → XP_011525144.1  WD repeat-containing protein 62 isoform X15

      Conserved Domains (3) summary
      COG2319
      Location:3 → 221
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:14 → 55
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:10 → 219
      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 ...

    16. XM_011526843.2 → XP_011525145.1  WD repeat-containing protein 62 isoform X16

      See identical proteins and their annotated locations for XP_011525145.1

      UniProtKB/TrEMBL
      A0A0S2Z606
      Conserved Domains (1) summary
      PHA03247
      Location:432 → 662
      PHA03247; large tegument protein UL36; Provisional

    17. XM_011526844.3 → XP_011525146.1  WD repeat-containing protein 62 isoform X16

      See identical proteins and their annotated locations for XP_011525146.1

      UniProtKB/TrEMBL
      A0A0S2Z606
      Conserved Domains (1) summary
      PHA03247
      Location:432 → 662
      PHA03247; large tegument protein UL36; Provisional

    RNA

    1. XR_001753671.2 RNA Sequence

    2. XR_001753672.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38600696..38656963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320658.1 → XP_054176633.1  WD repeat-containing protein 62 isoform X1

    2. XM_054320660.1 → XP_054176635.1  WD repeat-containing protein 62 isoform X3

    3. XM_054320661.1 → XP_054176636.1  WD repeat-containing protein 62 isoform X4

    4. XM_054320659.1 → XP_054176634.1  WD repeat-containing protein 62 isoform X2

    5. XM_054320662.1 → XP_054176637.1  WD repeat-containing protein 62 isoform X5

    6. XM_054320663.1 → XP_054176638.1  WD repeat-containing protein 62 isoform X6

    7. XM_054320664.1 → XP_054176639.1  WD repeat-containing protein 62 isoform X7

    8. XM_054320665.1 → XP_054176640.1  WD repeat-containing protein 62 isoform X8

    9. XM_054320666.1 → XP_054176641.1  WD repeat-containing protein 62 isoform X9

    10. XM_054320667.1 → XP_054176642.1  WD repeat-containing protein 62 isoform X10

    11. XM_054320668.1 → XP_054176643.1  WD repeat-containing protein 62 isoform X11

    12. XM_054320669.1 → XP_054176644.1  WD repeat-containing protein 62 isoform X12

    13. XM_054320670.1 → XP_054176645.1  WD repeat-containing protein 62 isoform X13

    14. XM_054320673.1 → XP_054176648.1  WD repeat-containing protein 62 isoform X14

    15. XM_054320671.1 → XP_054176646.1  WD repeat-containing protein 62 isoform X14

    16. XM_054320672.1 → XP_054176647.1  WD repeat-containing protein 62 isoform X15

    17. XM_054320674.1 → XP_054176649.1  WD repeat-containing protein 62 isoform X16

    18. XM_054320675.1 → XP_054176650.1  WD repeat-containing protein 62 isoform X16

    RNA

    1. XR_008485132.1 RNA Sequence

    2. XR_008485133.1 RNA Sequence

    3. XR_008485134.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43379.4 GenPept UniProtKB/Swiss-Prot:O43379

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