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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
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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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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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