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

Gene ID: 284403, updated on 8-May-2016
Official Symbol
WDR62provided by HGNC
Official Full Name
WD repeat domain 62provided by HGNC
Primary source
HGNC:HGNC:24502
See related
Ensembl:ENSG00000075702 HPRD:10721; MIM:613583; Vega:OTTHUMG00000048139
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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
Orthologs
Location:
19q13.12
Exon count:
34
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (36054881..36105111)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36545783..36596012)

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 RNA, Ro-associated Y5 pseudogene 10 Neighboring gene ovo like zinc finger 3 Neighboring gene polymerase (RNA) II subunit I Neighboring gene tubulin folding cofactor B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33298, MGC166976, DKFZp434J046, DKFZp686G1024

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
WD repeat-containing protein 62
Names
microcephaly, primary autosomal recessive 2
truncated WDR62

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
    5001..55230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083961.1NP_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, OTTHUMP00000045820, ENST00000401500, OTTHUMT00000109534
    Conserved Domains (2) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    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_173636.4NP_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, OTTHUMP00000267372, ENST00000270301, OTTHUMT00000457436
    Conserved Domains (2) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    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 Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    36054881..36105111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258809.2XP_005258866.1  

    Conserved Domains (2) summary
    COG2319
    Location:436788
    WD40; WD40 repeat [General function prediction only]
    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_011526838.1XP_011525140.1  

    Conserved Domains (2) summary
    COG2319
    Location:436744
    WD40; WD40 repeat [General function prediction only]
    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_011526837.1XP_011525139.1  

    Conserved Domains (2) summary
    COG2319
    Location:431783
    WD40; WD40 repeat [General function prediction only]
    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 ...
  4. XM_011526839.1XP_011525141.1  

    Conserved Domains (2) summary
    COG2319
    Location:95591
    WD40; WD40 repeat [General function prediction only]
    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 ...
  5. XM_011526840.1XP_011525142.1  

    Conserved Domains (2) summary
    COG2319
    Location:100408
    WD40; WD40 repeat [General function prediction only]
    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 ...
  6. XM_011526841.1XP_011525143.1  

    Conserved Domains (2) summary
    COG2319
    Location:18314
    WD40; WD40 repeat [General function prediction only]
    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 ...
  7. XM_011526842.1XP_011525144.1  

    Conserved Domains (2) summary
    COG2319
    Location:3221
    WD40; WD40 repeat [General function prediction only]
    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 ...
  8. XM_011526843.1XP_011525145.1  

    See identical proteins and their annotated locations for XP_011525145.1

    Conserved Domains (1) summary
    PHA03247
    Location:432662
    PHA03247; large tegument protein UL36; Provisional
  9. XM_011526844.1XP_011525146.1  

    See identical proteins and their annotated locations for XP_011525146.1

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    36547139..36597353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)