WDR62 - WD repeat domain 62 Gene

Also Known as MCPH2; C19orf14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284403

About WDR62

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,054,897-36,111,145 (from NCBI)

This gene has 40 transcripts (splice variants), 116 orthologues, 26 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 39.3), bone marrow (RPKM 4.7) and 1 other tissue.

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]

WDR62 Products (5)

mRNA	Protein	Name
NM_001083961.2	NP_001077430.1	WD repeat-containing protein 62 isoform 1
NM_001411145.1	NP_001398074.1	WD repeat-containing protein 62 isoform 3
NM_001411146.1	NP_001398075.1	WD repeat-containing protein 62 isoform 4
NM_001411147.1	NP_001398076.1	WD repeat-containing protein 62 isoform 5
NM_173636.5	NP_775907.4	WD repeat-containing protein 62 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in centriole replication	IMP IMP: Inferred from mutant phenotype	26297806	GOA
involved in cerebral cortex development	IMP IMP: Inferred from mutant phenotype	20729831	GOA
acts upstream of or within mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	24388750	GOA
involved in neurogenesis	IMP IMP: Inferred from mutant phenotype	20890278	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	26297806	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20729831	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	20890278	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDR62 Protein Structure

WD40

0
300
600
900
1200
1518 a.a.

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

WDR62 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	WDR62	O43379	P4HA3	Homo sapiens	Q7Z4N8	Y2H Prey Pooling	25416956
Intra	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8-2	Y2H Prey Pooling	25416956
Intra	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8-2	Validated Y2H	25416956
Intra	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8-2	Y2H Array	25416956
Intra	WDR62	O43379	KIAA0753	Homo sapiens	Q2KHM9	Anti Bait CoIP	26297806
Intra	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8	Validated Y2H	25416956
Intra	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8	Y2H Array	25416956
Intra	WDR62	O43379	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	WDR62	O43379	MAPK9	Homo sapiens	P45984	Validated Y2H	25416956
Intra	WDR62	O43379	MAPK9	Homo sapiens	P45984	Y2H Array	25416956
Intra	WDR62	O43379	MAPK9	Homo sapiens	P45984	Y2H Prey Pooling	25416956
Intra	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Anti Tag CoIP	26496610
Intra	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Y2H Prey Pooling	32296183
Intra	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Y2H Array	32296183
Intra	WDR62	O43379	DYRK2	Homo sapiens	Q92630	Y2H Array	25416956
Intra	WDR62	O43379	MAGEB4	Homo sapiens	O15481	Y2H Prey Pooling	25416956
Intra	WDR62	O43379	MAGEB4	Homo sapiens	O15481	Validated Y2H	25416956
Intra	WDR62	O43379	MAGEB4	Homo sapiens	O15481	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	MCPH2 Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations Microcephaly, Primary Autosomal Recessive, 2
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Neuronal Migration Disorders	Abnormality Of Neuronal Migration Malformations Of Cortical Development, Group Ii Neuronal Dysmigration Syndromes
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Wdr62 Primary Microcephaly	Autosomal Recessive Primary Microcephaly 2 With Or Without Cortical Malformations Mcph2
Microcephaly 17, Primary, Autosomal Recessive	MCPH17 Primary Autosomal Recessive Microcephaly 17
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Microcephaly 12, Primary, Autosomal Recessive	MCPH12 Primary Autosomal Recessive Microcephaly 12 Microcephaly, Type 12, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant	MCPH18 Primary Autosomal Dominant Microcephaly 18
Schizencephaly	Familial Schizencephaly Acquired Schizencephaly SCHZC Schizencephalia
Microcephaly 16, Primary, Autosomal Recessive	MCPH16 Primary Autosomal Recessive Microcephaly 16
Microcephaly 10, Primary, Autosomal Recessive	MCPH10 Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Primary Autosomal Recessive Microcephaly 10 Microcephalic Primordial Dwarfism, Walsh Type Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Microlissencephaly
Bilateral Generalized Polymicrogyria	Bilateral Generalised Polymicrogyria
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Microcephaly 15, Primary, Autosomal Recessive NEDMISBA Mcph15 Primary Autosomal Recessive Microcephaly 15 Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Microcephaly 11, Primary, Autosomal Recessive	MCPH11 Primary Autosomal Recessive Microcephaly 11 Microcephaly, Type 11, Primary, Autosomal Recessive
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Tubulinopathy	Tubulinopathies
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type Ii MOPD2 Mopd Ii Osteodysplastic Primordial Dwarfism Type Ii Mopdii Osteodysplastic Primordial Dwarfism Type 2 Osteodysplastic Primordial Dwarfism, Type Ii Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Mopd 2 Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Mopd Type Ii Microcephalic Osteodysplastic Primordial Dwarfism 2 Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Microcephaly 6, Primary, Autosomal Recessive	MCPH6 Primary Autosomal Recessive Microcephaly 6 Microcephaly, Primary Autosomal Recessive, 6 Microcephaly, Type 6, Primary, Autosomal Recessive
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Porencephaly
Microcephaly, Autosomal Dominant	Autosomal Dominant Microcephaly Microcephaly Autosomal Dominant Autosomal Dominant Primary Microcephaly Microcephaly With Autosomal Dominant Inheritance
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Polymicrogyria	Pmg
Polymicrogyria, Bilateral Frontoparietal	Bilateral Frontoparietal Polymicrogyria BFPP Cerebellar Ataxia With Neuronal Migration Defect
Physical Disorder	Physical Illness
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15791	WDR62 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	WDR62	VGNC	VGNC:67046
Bos taurus	WDR62	VGNC	VGNC:36910
Mus musculus	WDR62	MGD	MGI:1923696
Canis familiaris	WDR62	VGNC	VGNC:48380
Rattus norvegicus	WDR62	RGD	RGD:1306714
Others	WDR62	NCBI