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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

WDR62 Gene

protein-coding GIFtS: 52
GCID: GC19P036545

WD Repeat Domain 62

(Previous names: chromosome 19 open reading frame 14, microcephaly, primary...)
(Previous symbols: C19orf14, MCPH2)

12 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
WD Repeat Domain 62¹ ²		Chromosome 19 Open Reading Frame 14¹
C19orf14¹ ² ³ ⁵		WD Repeat-Containing Protein 62²
MCPH2¹ ²		EC 2.7.11.1⁸
Microcephaly, Primary Autosomal Recessive 2¹ ²		EC 2.7.7.38⁸

External Ids:	HGNC: 24502¹	Entrez Gene: 284403²	Ensembl: ENSG00000075702⁷	OMIM: 613583⁵	UniProtKB: O43379³

Export aliases for WDR62 gene to outside databases

Previous GC identifers: GC19P041240 GC19P033051

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WDR62 Gene:

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)

GeneCards Summary for WDR62 Gene:

WDR62 (WD repeat domain 62) is a protein-coding gene. Diseases associated with WDR62 include primary autosomal recessive microcephaly type 2, and microcephaly, cortical malformations, and mental retardation. An important paralog of this gene is MAPKBP1.

UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379

Function: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration

Gene Wiki entry for WDR62 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NT_011109.16 NC_018930.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WDR62 gene promoter:
Pax-5 Sp1 LCR-F1 CBF-C E47 CBF-B CBF-A NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WDR62 promoter sequence

Search SABiosciences Chromatin IP Primers for WDR62

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR62

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.12 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.12

WDR62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR62 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P036545: view genomic region (about GC identifiers)

Start:	36,545,783 bp from pter	End:	36,596,012 bp from pter
Size:	50,230 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379 (See protein sequence)

Recommended Name: WD repeat-containing protein 62

Size: 1518 amino acids; 165954 Da

Subcellular location: Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent localization.

Accumulates to the spindle pole during mitosis

Sequence caution: Sequence=AAC27979.1; Type=Erroneous gene model prediction; Sequence=AAH17261.1; Type=Erroneous

initiation; Note=Translation N-terminally extended;

Secondary accessions: Q63HP9 Q659D7 Q8NBF7 Q96AD9

Alternative splicing: 4 isoforms: O43379-1 O43379-2 O43379-3 O43379-4 (Variant in position: 1078:A->T (in MCPH2, uncertain pathological significance))

Explore the universe of human proteins at neXtProt for WDR62: NX_O43379

Explore proteomics data for WDR62 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O43379

2 DME Specific Peptides for WDR62 (O43379)

QCLVKSP

LPPSPLE

WDR62 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001077430.1 NP_775907.4

ENSEMBL proteins:

ENSP00000384792 ENSP00000465525 ENSP00000270301 ENSP00000413475 ENSP00000373651

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000922	spindle pole	IDA	--
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IEA	--

WDR62 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

WDR: WD repeat domain containing

3 InterPro protein domains:

IPR001680 WD40_repeat

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry O43379

ProtoNet protein and cluster: O43379

UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379

Similarity: Contains 15 WD repeats

WDR62 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: WDR62_HUMAN, O43379

Function: Required for cerebral cortical development. Plays a role in neuronal proliferation and migration

Enzyme Numbers (IUBMB): EC 2.7.7.38² EC 2.7.11.1²

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

WDR62 for ontologies About GeneDecksing

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for WDR62

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5/15 Interacting proteins for WDR62 (O43379^{2, 3} ENSP00000384792⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAPK9	P45984²^,³, ENSP00000321410⁴	MINT-68376 I2D: score=5 STRING: ENSP00000321410
LRIF1	Q5T3J3²^,³	MINT-63143 I2D: score=4
TBP	P20226³, ENSP00000230354⁴	I2D: score=4 STRING: ENSP00000230354
ESR2	Q92731³, ENSP00000343925⁴	I2D: score=1 STRING: ENSP00000343925
RALY	Q9UKM9³	I2D: score=4

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0021987	cerebral cortex development	IMP	--
GO:0022008	neurogenesis	IMP	--

WDR62 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for WDR62

Search CenterWatch for drugs/clinical trials and news about WDR62

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for WDR62 gene (2 alternative transcripts):

NM_001083961.1 NM_173636.4

Unigene Cluster for WDR62:

WD repeat domain 62

Hs.116244 [show with all ESTs]

Unigene Representative Sequence: NM_001083961

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378860(uc002odb.2) ENST00000401500(uc002odd.2 uc002odc.2)

ENST00000587391 ENST00000270301 ENST00000427823 ENST00000589953 ENST00000388999(uc010eer.3)

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Additional mRNA sequence:

AK090617.1 AL117438.1 AL133651.1 BC017261.2 BC058939.1 BC128417.1

9 DOTS entries:

DT.412222 DT.92473513 DT.97783587 DT.97797055 DT.100835202 DT.100754566 DT.121465257 DT.95076463

DT.99961200

24/102 AceView cDNA sequences (see all 102):

BX283488 BU658898 BQ956945 BE270083 AW574718 AL041673 BU187036 BI117973

CR621762 AI049908 BX280857 AL041037 BG332912 CF272517 BU176206 AL040064

BE795729 BG717092 BQ425501 AL045734 BQ425163 BC017261 BE787748 BQ880028

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for WDR62 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7a	·	7b	^	8	^	9a	·	9b	·	9c	^	10	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^
SP1:
SP2:
SP3:
SP4:
SP5:																					-

ExUns:	21	^	22	^	23	^	24a	·	24b	^	25	^	26a	·	26b	^	27	^	28	^	29a	·	29b	^	30	^	31
SP1:													-
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for WDR62

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

WDR62 expression in normal human tissues (normalized intensities) WDR62 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAGGCCACTG

About this image

WDR62 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/4 selected tissues (see all 4) fully expand


Placenta (Extraembryonic Tissues)
placenta e12.5

Blood (Cardiovascular System)
reticulocytes

Neural Tube (Nervous System)
Metencephalon

Testis (Reproductive System)

See WDR62 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WDR62

SOURCE GeneReport for Unigene cluster: Hs.116244

UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379

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

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for WDR62 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Wdr62^{1 , 5}	WD repeat domain 62^{1, 5}	82.29(n)¹ 79.95(a)¹		7 (17.34 cM)⁵ 233064¹ NM_146186.3¹ NP_666298.3¹ 30240138⁵
lizard (Anolis carolinensis)	Reptilia	WDR62⁶	Uncharacterized protein	72(a)	1 ↔ 1	GL344420.1(699-18010)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-152c12.2¹	si:ch211-152c12.2	54.71(n) 46.81(a)		570949 XM_694487.3 XP_699579.3
fruit fly (Drosophila melanogaster)	Insecta	DCX-EMAP⁶ CG7337⁶	--	8(a) 19(a)	possible ortholog 1 ↔ many	3L(14896905-14936007) 2L(1884622-1944289)
worm (Caenorhabditis elegans)	Secernentea	H24G06.1⁶ elp-1⁶	Protein H24G06.1, isoform a Echinoderm microtubule-associated protein-like elp...	17(a) 10(a)	1 ↔ many possible ortholog	V(9446173-9460639) V(20764955-20770161)

ENSEMBL Gene Tree for WDR62 (if available)
TreeFam Gene Tree for WDR62 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for WDR62 gene

MAPKBP1²

3 SIMAP similar genes for WDR62 using alignment to 2 protein entries: WDR62_HUMAN (see all proteins):

DKFZp434J046 MAFK MAPKBP1

WDR62 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for WDR62
PGOHUM00000248223

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_063703⁴		Microcephaly, primary, 2 (MCPH2)⁴	--	see VAR_063703	2	E K	mis⁴		0	--	--	--	--
VAR_063702⁴		Microcephaly, primary, 2 (MCPH2)⁴	--	see VAR_063702	2	W S	mis⁴		0	--	--	--	--
VAR_065844⁴		Microcephaly, primary, 2 (MCPH2)⁴	--	see VAR_065844	2	R H	mis⁴		0	--	--	--	--
VAR_065843⁴		Microcephaly, primary, 2 (MCPH2)⁴	--	see VAR_065843	2	V M	mis⁴		0	--	--	--	--
VAR_065845⁴		Microcephaly, primary, 2 (MCPH2)⁴	--	see VAR_065845	2	D N	mis⁴		0	--	--	--	--
rs147875659^1,2	C	pathogenic¹	36734781(+)	`TGGACG/AAGCTG`	4	/K /E	mis¹		1		NA	4552
rs59690923^1,2	C	--	33088907(+)	`TGTGG-/ATGTGG`	2	--	int¹		1		CSA	2
rs34412614^1,2	C	--	36548423(+)	`TTTTTT/-GAGAC`	2	--	int¹		2		NA CSA	4
rs62109752^1,2	C,F	--	36560620(+)	`GTAAAC/TGAGAC`	2	--	int¹		2		NA CSA	4
rs61516520^1,2	C	--	36560657(+)	`AGGCCA/GAGGCT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for WDR62 (36545783 - 36596012 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for WDR62: About this table

Variant ID	Type	Subtype	PubMed ID
nsv833815	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): WDR62

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

WDR62 for disorders           About GeneDecksing

OMIM gene information: 613583
OMIM disorders: 600176
UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379

Microcephaly, primary, 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. Note=The disease is caused by mutations

affecting the gene represented in this entry

12 diseases for WDR62: About MalaCards

primary autosomal recessive microcephaly type 2 microcephaly, cortical malformations, and mental retardation pachygyria schizencephaly

brain malformations primary autosomal recessive microcephaly microcephaly polymicrogyria

cerebritis lissencephaly mental retardation neuronitis

1 disease from the University of Copenhagen DISEASES database for WDR62:

Microcephaly

Export disorders for WDR62 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for WDR62 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with WDR62)

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Mutations in WDR62, encoding a centrosomal and nuclea r protein, in Indian primary microcephaly families with cortical malformations. (PubMed id 21496009)^{1, 2, 3} Bhat V....Kumar A. (2011)
Whole-exome sequencing identifies recessive WDR62 mut ations in severe brain malformations. (PubMed id 20729831)^{1, 2, 3} BilgA1var K....GA1nel M. (2010)
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architec ture. (PubMed id 20890278)^{1, 2, 3} Yu T.W....Walsh C.A. (2010)
A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activati on. (PubMed id 19910486)^{1, 3} Wasserman T....Aronheim A. (2010)
WDR62 is associated with the spindle pole and is muta ted in human microcephaly. (PubMed id 20890279)^{1, 2} Nicholas A.K....Woods C.G. (2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
Identification and analysis of a novel dimerization do main shared by various members of c-Jun N-terminal kinase (JNK) scaffold protein s. (PubMed id 23341463)¹ Cohen-Katsenelson K....Aronheim A. (2013)
A novel WDR62 mutation causes primary microcephaly in a Pakistani family. (PubMed id 23065275)¹ Memon M.M....Ansar M. (2013)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 284403	HGNC: 24502	AceView: C19orf14	Ensembl:ENSG00000075702	euGenes: HUgn284403
ECgene: WDR62	H-InvDB: WDR62

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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PharmGKB entry for WDR62	Pharmacogenomics, SNPs, Pathways

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WD Repeat Domain 62

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