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

Gene ID: 284403, updated on 6-Sep-2021

Summary

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
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

See WDR62 in Genome Data Viewer
Location:
19q13.12
Exon count:
35
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (36054881..36111145)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36545799..36596010)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927572 Neighboring gene CAP-Gly domain containing linker protein 3 Neighboring gene THAP domain containing 8 Neighboring gene RNY5 pseudogene 10 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

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WD repeat-containing protein 62
Names
microcephaly, primary autosomal recessive 2
truncated WDR62

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_028101.1 RefSeqGene

    Range
    5017..55228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083961.2NP_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/Swiss-Prot
    O43379
    Related
    ENSP00000384792.1, ENST00000401500.7
    Conserved Domains (3) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:498532
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:492744
    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_173636.5NP_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
    Related
    ENSP00000270301.6, ENST00000270301.12
    Conserved Domains (3) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:498532
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:492744
    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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    36054881..36111145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    O43379
    Conserved Domains (3) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:498532
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:492744
    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_005258809.2XP_005258866.1  WD repeat-containing protein 62 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:436788
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:498532
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:492744
    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_011526838.1XP_011525140.1  WD repeat-containing protein 62 isoform X4

    Related
    ENSP00000505582.1, ENST00000680564.1
    Conserved Domains (3) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:498532
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:492744
    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 ...
  4. XM_011526837.1XP_011525139.1  WD repeat-containing protein 62 isoform X2

    Related
    ENSP00000506226.1, ENST00000679682.1
    Conserved Domains (3) summary
    COG2319
    Location:431783
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:493527
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:487739
    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_011526839.1XP_011525141.1  WD repeat-containing protein 62 isoform X5

    Related
    ENSP00000505158.1, ENST00000679757.1
    Conserved Domains (3) summary
    COG2319
    Location:95591
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:381415
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:375627
    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_011526840.2XP_011525142.1  WD repeat-containing protein 62 isoform X6

    Conserved Domains (3) summary
    COG2319
    Location:100408
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:162196
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:156408
    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_011526841.2XP_011525143.1  WD repeat-containing protein 62 isoform X7

    Conserved Domains (3) summary
    COG2319
    Location:18314
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2458
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:18270
    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_011526842.1XP_011525144.1  WD repeat-containing protein 62 isoform X8

    Conserved Domains (3) summary
    COG2319
    Location:3221
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1455
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:10219
    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 ...
  9. XM_011526843.1XP_011525145.1  WD repeat-containing protein 62 isoform X9

    See identical proteins and their annotated locations for XP_011525145.1

    Conserved Domains (1) summary
    PHA03247
    Location:432662
    PHA03247; large tegument protein UL36; Provisional
  10. XM_011526844.2XP_011525146.1  WD repeat-containing protein 62 isoform X9

    See identical proteins and their annotated locations for XP_011525146.1

    Conserved Domains (1) summary
    PHA03247
    Location:432662
    PHA03247; large tegument protein UL36; Provisional

RNA

  1. XR_001753671.1 RNA Sequence

  2. XR_001753672.1 RNA Sequence

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