Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneAnalytics
- GeneLoc
- GenesLikeMe
- VarElect
- PathCards
Terms of Use
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
GeneCards Suite
- Affiliated Databases
  
  Premium Tools
  
  Learn more

Set Analyses:

Advanced Search

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)

See WDR62-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 ⁵		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, GeneCards, 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 microcephaly 2, primary, autosomal recessive, with or without cortical malformations, and microcephaly, primary autosomal recessive. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000019.9 NT_011109.17 NC_018930.2

Regulatory elements:

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 Chromatin IP Primers for WDR62

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

2 DME Specific Peptides for WDR62 (O43379)

QCLVKSP

LPPSPLE

See WDR62 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001077430.1 NP_775907.4

ENSEMBL proteins:

ENSP00000384792 ENSP00000465525 ENSP00000270301 ENSP00000413475 ENSP00000373651

WDR62 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for WDR62
	GenScript Custom Purified and Recombinant Proteins Services for WDR62
	Novus Biologicals WDR62 Protein
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for WDR62
	Search eBioscience for Proteins for WDR62
	Search GeneTex for Proteins for WDR62
	antibodies-online proteins for WDR62 (2 products)
	Search antibodies-online for peptides for WDR62

WDR62 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for WDR62
	Novus Biologicals WDR62 Antibodies
	Abcam antibodies for WDR62
	Cloud-Clone Corp. Antibodies for WDR62
	ThermoFisher Antibodies for WDR62
	antibodies-online antibodies for WDR62 (2 products)

WDR62 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for WDR62
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for WDR62
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for WDR62 Cloud-Clone Corp. CLIAs for WDR62
	Search eBioscience for ELISAs for WDR62
	antibodies-online kits for WDR62 (6 products)

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

HGNC Gene Families:

WDR: WD repeat domain containing

4 InterPro protein domains:

IPR011047 Quinonprotein_ADH-like_supfam

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

Find genes that share domains with WDR62 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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: About this table

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

Find genes that share ontologies with WDR62 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for WDR62

miRNA Products:		miRTarBase miRNAs that target WDR62: hsa-mir-542-5p (MIRT039350), hsa-mir-1260b (MIRT052764), hsa-mir-877-3p (MIRT037077), hsa-mir-186-5p (MIRT045108), hsa-mir-769-5p (MIRT039175), hsa-mir-149-5p (MIRT045652), hsa-mir-615-3p (MIRT040399), hsa-mir-193b-3p (MIRT016504)

		Block miRNA regulation of human, mouse, rat WDR62 using miScript Target Protectors
		1 qRT-PCR Assays for microRNA that regulate WDR62:
		hsa-miR-223
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for WDR62
		Predesigned siRNA for gene silencing in human, mouse, rat WDR62

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for WDR62

Clone Products:		OriGene clones in human, mouse for WDR62 (see all 14) OriGene ORF clones in mouse, rat for WDR62 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): WDR62 (NM_173636)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for WDR62
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat WDR62

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for WDR62
		Browse ESI BIO Cell Lines and PureStem Progenitors for WDR62

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR62

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

WDR62_HUMAN, O43379: Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent

localization. Accumulates to the spindle pole during mitosis

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
nucleus	5
cytosol	3

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000922	spindle pole	IDA	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

Find genes that share ontologies with WDR62 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for WDR62
Interactions:

Search GeneGlobe Interaction Network for WDR62

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

Selected Interacting proteins for WDR62 (O43379^{2, 3} ENSP00000384792⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

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: About this table

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

Find genes that share ontologies with WDR62 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for WDR62 gene (3 alternative transcripts):

NM_001083961.1 NM_173636.4 XM_005258809.1

Unigene Cluster for WDR62:

WD repeat domain 62

Hs.116244 [show with all ESTs]

Unigene Representative Sequence: NM_001083961

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

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

ENST00000608676 ENST00000587391 ENST00000270301 ENST00000427823 ENST00000589953

ENST00000388999(uc010eer.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat WDR62 using miScript Target Protectors
		1 qRT-PCR Assays for microRNA that regulate WDR62:
		hsa-miR-223
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for WDR62
		Predesigned siRNA for gene silencing in human, mouse, rat WDR62

Clone Products:		OriGene clones in human, mouse for WDR62 (see all 14) OriGene ORF clones in mouse, rat for WDR62 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): WDR62 (NM_173636)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for WDR62
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat WDR62

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for WDR62
		Search Pre-validated RT² qPCR Primer Assays in human, mouse, rat WDR62
		QuantiTect SYBR Green Assays in human, mouse, rat WDR62
		QuantiFast Probe-based Assays in human, mouse, rat WDR62

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

Selected AceView cDNA sequences (see all 102):

BX283488 BQ956945 BU187036 BE270083 CF272517 BX280857 BI117973 AW574718

BU176206 AL041037 CR621762 BU658898 AL041673 AI049908 BG332912 AL560891

BQ425501 BU628929 NM_173636 BI085576 BM726953 BX414510 BE560162 BU845609

GeneLoc Exon Structure

Selected 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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

WDR62 expression in normal human tissues (normalized intensities)
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
selected tissues (see all 4) fully expand


Blood (Hematopoietic System)
Proerythroblasts Hematopoietic Bone Marrow

Neural Tube (Nervous System)
Metencephalon

Testis (Reproductive System)

Placenta (Extraembryonic Tissues)

WDR62 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

WDR62 Protein Expression

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

Custom PCR Arrays for WDR62

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for WDR62
		Search Pre-validated RT² qPCR Primer Assays in human, mouse, rat WDR62
		QuantiTect SYBR Green Assays in human, mouse, rat WDR62
		QuantiFast Probe-based Assays in human, mouse, rat WDR62

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR62

(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 Selected species (see all 13) 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}	82.32(n)¹ 79.95(a)¹		7 (17.34 cM)⁵ 233064¹ NM_146186.3¹ NP_666298.3¹ 30240138⁵
lizard (Anolis carolinensis)	Reptilia	WDR62⁶	WD repeat domain 62	72(a)	1 ↔ 1	GL344420.1(699-18010)
tropical clawed frog (Xenopus tropicalis)	Amphibia	wdr62¹	WD repeat domain 62	51.58(n) 46.03(a)		100493893 XM_002940951.2 XP_002940997.2
zebrafish (Danio rerio)	Actinopterygii	wdr62¹	WD repeat domain 62	55.16(n) 47.45(a)		570949 XM_005169694.1 XP_005169751.1
fruit fly (Drosophila melanogaster)	Insecta	CG7337⁶	--	17(a)	1 → many	2L(1884622-1944289)
worm (Caenorhabditis elegans)	Secernentea	H24G06.1⁶	Protein H24G06.1, isoform c (H24G06.1) mRNA, compl...	13(a)	1 → many	V(9446173-9460639) WBGene00019237

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,Sets of similar genes according to GenesLikeMe)
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

Find genes that share paralogs with WDR62 About GenesLikeMe

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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)⁴	--	see VAR_063703	2	E K	mis⁴		0	--	--	--	--
VAR_063702⁴		Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)⁴	--	see VAR_063702	2	W S	mis⁴		0	--	--	--	--
VAR_065844⁴		Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)⁴	--	see VAR_065844	2	R H	mis⁴		0	--	--	--	--
VAR_065843⁴		Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)⁴	--	see VAR_065843	2	V M	mis⁴		0	--	--	--	--
VAR_065845⁴		Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing WDR62

DNA2.0 Custom Variant and Variant Library Synthesis for WDR62

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 613583
OMIM disorders: 604317
UniProtKB/Swiss-Prot: WDR62_HUMAN, O43379

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (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

7 diseases for WDR62:
About MalaCards

microcephaly 2, primary, autosomal recessive, with or without cortical malformations microcephaly, primary autosomal recessive primary autosomal recessive microcephaly type 2 microcephaly, cortical malformations, and mental retardation

primary autosomal recessive microcephalies and seckel syndrome spectrum disorders primary autosomal recessive microcephaly type 1 microcephaly

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

Microcephaly

Find genes that share disorders with WDR62 About GenesLikeMe

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 10 sources (see all 39):
(articles sorted by number of sources associating them with WDR62)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. (PubMed id 21496009)^{1, 2, 3} Bhat V.... Kumar A. (Clin. Genet. 2011)
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PubMed id 20729831)^{1, 2, 3} Bilguvar K.... Gunel M. (Nature 2010)
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (PubMed id 20890278)^{1, 2, 3} Yu T.W.... Walsh C.A. (Nat. Genet. 2010)
A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation. (PubMed id 19910486)^{1, 3} Wasserman T....Aronheim A. (Mol. Biol. Cell 2010)
WDR62 is associated with the spindle pole and is mutated in human microcephaly. (PubMed id 20890279)^{1, 2} Nicholas A.K.... Woods C.G. (Nat. Genet. 2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (Nature 2004)
Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)¹ Couzens A.L....Gingras A.C. (Sci Signal 2013)
The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)¹ Varjosalo M....Gstaiger M. (Cell Rep 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 284403	HGNC: 24502	AceView: C19orf14	Ensembl:ENSG00000075702	euGenes: HUgn284403
ECgene: WDR62	H-InvDB: WDR62

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for WDR62	Pharmacogenomics, SNPs, Pathways

Intellectual Property for WDR62 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for WDR62 gene:
Search GeneIP for patents involving WDR62

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section


	EMD Millipore genomic analysis products

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Enzyme Activity Assays/Reagents
	Browse ELISpot/FluoroSpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Luminex Assays
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Recombinant/Natural Proteins		Browse Stem Cell Products
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for WDR62
	Browse OriGene qPCR primer pairs and template standards		Browse OriGene Protein Over-expression Lysates
	OriGene Custom Mass Spec		OriGene clones in human, mouse for WDR62
	OriGene qSTAR qPCR primer pairs in human, mouse for WDR62		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	OriGene ORF clones in mouse, rat for WDR62		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for WDR62		OriGene Custom Protein Services for WDR62

	Block miRNA regulation of human, mouse, rat WDR62 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing WDR62
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR62		Predesigned siRNA for gene silencing in human, mouse, rat WDR62
	QuantiFast Probe-based Assays in human, mouse, rat WDR62		QuantiTect SYBR Green Assays in human, mouse, rat WDR62
	Custom PCR Arrays for WDR62		Search Chromatin IP Primers for WDR62
	Search Pre-validated RT² qPCR Primer Assays in human, mouse, rat WDR62		Search GeneGlobe Interaction Network for WDR62
	Regulatory tfbs in WDR62 promoter

	GenScript Custom Purified and Recombinant Proteins Services for WDR62		GenScript cDNA clones with any tag delivered in your preferred vector for WDR62
	GenScript Custom Assay Services for WDR62		GenScript Custom overexpressing Cell Line Services for WDR62
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

Search for Antibodies & Assays

Search Tocris compounds for WDR62

	Browse Sino Biological Proteins
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	WDR62 antibodies
	WDR62 proteins

	Antibodies for WDR62
	See all of Abcam's Antibodies, Kits and Proteins for WDR62
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Proteins for WDR62
	Antibodies for WDR62
	ELISAs for WDR62
	CLIAs for WDR62

Browse ESI BIO Cell Lines and PureStem Progenitors for WDR62

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR62

	Browse SwitchGear 3'UTR luciferase reporter plasmids for WDR62
	SwitchGear Promoter luciferase reporter plasmids for WDR62

ThermoFisher Antibodies for WDR62

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat WDR62

Browse compounds at ApexBio

Search Addgene for plasmids for WDR62

	Search eBioscience for proteins for WDR62
	Search eBioscience for elisas for WDR62
	eBioscience FlowRNA Probe Sets

genOway: Develop your customized and physiologically relevant rodent model for WDR62

	antibodies-online antibodies for WDR62 (2 products)
	antibodies-online kits for WDR62 (6 products)
	Search antibodies-online for peptides for WDR62
	antibodies-online proteins for WDR62 (2 products)

Search GeneTex for proteins for WDR62

GeneCards Home - Full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015 , 3 Feb 2015

View Random Gene

Category			(GIFtS: )
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes WDR62 gene at Home site.

Version: 3.12.348 25 Feb 2015
hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4

GeneCards Suite

Advanced Search

Export list of displayed genes

WDR62 Gene

WD Repeat Domain 62

Aliases
for WDR62 gene

Summaries
for WDR62 gene

Genomic Views
for WDR62 gene

Proteins
for WDR62 gene

WDR62 Human Recombinant Protein Products:

WDR62 Antibody Products:

WDR62 Assay Products:

Domains /
Families
for WDR62 gene

Function
for WDR62 gene

Localization
for WDR62 gene

Pathways & Interactions
for WDR62 gene

Drugs & Compounds
for WDR62 gene

Transcripts
for WDR62 gene

Expression
for WDR62 gene

Orthologs
for WDR62 gene

Paralogs
for WDR62 gene

Genomic Variants
for WDR62 gene

Disorders / Diseases
for WDR62 gene

Publications
for WDR62 gene

External Searches for WDR62 gene

Genome Databases showing WDR62 gene

Other Databases showing WDR62 gene

Specialized Databases showing WDR62 gene

Intellectual Property
for WDR62 gene

Products
for WDR62 gene

View Random Gene

GeneCards Suite

Advanced Search

Export list of displayed genes

WDR62 Gene

WD Repeat Domain 62

Aliasesfor WDR62 gene

Summariesfor WDR62 gene

Genomic Viewsfor WDR62 gene

Proteinsfor WDR62 gene

WDR62 Human Recombinant Protein Products:

WDR62 Antibody Products:

WDR62 Assay Products:

Domains /Familiesfor WDR62 gene

Functionfor WDR62 gene

Localizationfor WDR62 gene

Pathways & Interactionsfor WDR62 gene

Drugs & Compoundsfor WDR62 gene

Transcriptsfor WDR62 gene

Expression for WDR62 gene

Orthologsfor WDR62 gene

Paralogsfor WDR62 gene

Genomic Variantsfor WDR62 gene

Disorders / Diseasesfor WDR62 gene

Publicationsfor WDR62 gene

External Searches for WDR62 gene

Genome Databases showing WDR62 gene

Other Databases showing WDR62 gene

Specialized Databases showing WDR62 gene

Intellectual Propertyfor WDR62 gene

Productsfor WDR62 gene

View Random Gene

Aliases
for WDR62 gene

Summaries
for WDR62 gene

Genomic Views
for WDR62 gene

Proteins
for WDR62 gene

Domains /
Families
for WDR62 gene

Function
for WDR62 gene

Localization
for WDR62 gene

Pathways & Interactions
for WDR62 gene

Drugs & Compounds
for WDR62 gene

Transcripts
for WDR62 gene

Expression
for WDR62 gene

Orthologs
for WDR62 gene

Paralogs
for WDR62 gene

Genomic Variants
for WDR62 gene

Disorders / Diseases
for WDR62 gene

Publications
for WDR62 gene

Intellectual Property
for WDR62 gene

Products
for WDR62 gene