WDR62 - WD repeat domain 62 Gene

中文名称：WD 重复域 62

种属: Homo sapiens

同用名: MCPH2; C19orf14

基因 ID: 284403 | 基因类型: protein coding

关于 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.

功能概要

该基因被认为在大脑皮层发育中发挥作用。该基因的突变与小脑畸形、皮质畸形和认知障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供，2011 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in centriole replication	IMP IMP: 通过突变表型推断	26297806	GOA
involved in cerebral cortex development	IMP IMP: 通过突变表型推断	20729831	GOA
acts upstream of or within mitotic spindle organization	IMP IMP: 通过突变表型推断	24388750	GOA
involved in neurogenesis	IMP IMP: 通过突变表型推断	20890278	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centrosome	IDA IDA: 通过直接分析推断	26297806	GOA
located in nucleus	IDA IDA: 通过直接分析推断	20729831	GOA
located in spindle pole	IDA IDA: 通过直接分析推断	20890278	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

WDR62 蛋白结构

WD40

0
300
600
900
1200
1518 a.a.

蛋白主名

其他名称

WD repeat-containing protein 62

microcephaly, primary autosomal recessive 2

WDR62 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	WDR62	O43379	P4HA3	Homo sapiens	Q7Z4N8	Y2H Prey Pooling	25416956
种属内	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8-2	Y2H Prey Pooling	25416956
种属内	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8-2	Validated Y2H	25416956
种属内	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8-2	Y2H Array	25416956
种属内	WDR62	O43379	KIAA0753	Homo sapiens	Q2KHM9	Anti Bait CoIP	26297806
种属内	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8	Validated Y2H	25416956
种属内	WDR62	O43379	TBC1D23	Homo sapiens	Q9NUY8	Y2H Array	25416956
种属内	WDR62	O43379	YWHAE	Homo sapiens	P62258	Crosslink	36931259
种属内	WDR62	O43379	MAPK9	Homo sapiens	P45984	Validated Y2H	25416956
种属内	WDR62	O43379	MAPK9	Homo sapiens	P45984	Y2H Array	25416956
种属内	WDR62	O43379	MAPK9	Homo sapiens	P45984	Y2H Prey Pooling	25416956
种属内	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Anti Tag CoIP	26496610
种属内	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Y2H Prey Pooling	32296183
种属内	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
种属内	WDR62	O43379	ENKD1	Homo sapiens	Q9H0I2	Y2H Array	32296183
种属内	WDR62	O43379	DYRK2	Homo sapiens	Q92630	Y2H Array	25416956
种属内	WDR62	O43379	MAGEB4	Homo sapiens	O15481	Y2H Prey Pooling	25416956
种属内	WDR62	O43379	MAGEB4	Homo sapiens	O15481	Validated Y2H	25416956
种属内	WDR62	O43379	MAGEB4	Homo sapiens	O15481	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

直系同源

种属	基因名	来源	基因 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