WDR73 - WD repeat domain 73 Gene

中文名称：WD 重复域 73

种属: Homo sapiens

同用名: GAMOS; GAMOS1; HSPC264

基因 ID: 84942 | 基因类型: protein coding

关于 WDR73

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:84,639,285-84,654,283 (from NCBI)

This gene has 21 transcripts (splice variants), 190 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 6.8), prostate (RPKM 5.3) and 25 other tissues.

功能概要

该基因编码的蛋白质被认为包含多个 WD40 重复序列。 WD40 重复序列是包含 40-60 个氨基酸的基序，通常以 Trp-Asp (WD) 结尾。这种蛋白质在间期期间存在于细胞质中，但在有丝分裂期间积累在纺锤体极和星体微管中。该基因表达减少导致细胞核大小和形态异常。该基因的突变与 Galloway-Mowat 综合征 PMID：25466283) 有关，这是一种罕见的常染色体隐性遗传病，会同时影响中枢神经系统和肾脏。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 2 月]

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 Amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during Mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

WDR73 基因产物(1)

mRNA	Protein	Name
NM_032856.5	NP_116245.2	WD repeat-containing protein 73

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cytoplasmic microtubule organization	IMP IMP: 通过突变表型推断	25466283	GOA
involved in negative regulation of apoptotic process	IMP IMP: 通过突变表型推断	25466283	GOA
involved in nucleus organization	IMP IMP: 通过突变表型推断	25466283	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with cleavage furrow	IDA IDA: 通过直接分析推断	25466283	GOA
colocalizes with cytosol	IDA IDA: 通过直接分析推断	25466283	GOA
colocalizes with spindle pole	IDA IDA: 通过直接分析推断	25466283	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

蛋白主名

其他名称

WD repeat-containing protein 73

FLJ00296 protein

关联疾病

疾病名称

别名

Galloway-Mowat Syndrome 1

Galloway Syndrome	Nephrosis-Neuronal Dysmigration Syndrome
Nephrosis-Microcephaly Syndrome	Camos
Scar5	GAMOS1
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Microcephaly, Hiatal Hernia And Nephrotic Syndrome
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities	Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
Scar5, Formerly	Spinocerebellar Ataxia Autosomal Recessive 5
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities	Camos Syndrome
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome	Galloway-Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 5	Galloway Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 5

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

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Cerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Galloway-Mowat Syndrome 2

Bladder Calculus

Urinary Bladder Calculi	Urinary Bladder Stone
Bladder Calculi	Bladder Stone
Urinary Bladder Calculus	Vesical Calculi
Vesical Calculus	Vesicolithiasis
Cystolithiasis	Cystic Calculi
Cystic Calculus

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Partial Optic Atrophy

Hernia, Hiatus

Hiatal Hernia	Hiatus Hernia
Diaphragmatic - Hiatus -Hernia	Hernia, Hiatal

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Polymicrogyria

Pmg

Frasier Syndrome

Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy	Infantile Cerebellooptic Atrophy
PEHO	Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
Progressive Encephalopathy-Optic Atrophy Syndrome

Nail-Patella Syndrome

Turner-Kieser Syndrome	Onychoosteodysplasia
Fong Disease	NPS
Hereditary Onycho-Osteodysplasia	Nps1
Hereditary Onychoostedysplasia	Iliac Horn Syndrome
Nail Patella Syndrome	Turner-Kiser Syndrome
Arthro-Onychodysplasia	Nps 1
Osteo-Onychodysplasia	Hereditary Osteo-Onychodysplasia
Osterreicher Syndrome	Pelvic Horn Syndrome
Österreicher-Turner Syndrome	Nps - [Nail-Patella Syndrome]
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis	KMIN
Kin	Systemic Karyomegaly
Karyomegalic Tubulointerstitial Nephritis	Ktn

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15794	WDR73 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	WDR73	RGD	RGD:1306429
Canis familiaris	WDR73	VGNC	VGNC:48385
Mus musculus	WDR73	MGD	MGI:1919218
Felis catus	WDR73	VGNC	VGNC:67052
Macaca mulatta	WDR73	VGNC	VGNC:79558
Bos taurus	WDR73	VGNC	VGNC:36917

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

WDR73 - WD repeat domain 73 Gene

关于 WDR73

功能概要

WDR73 基因产物(1)

关联疾病

直系同源

热门区域

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WDR73 - WD repeat domain 73 Gene

关于 WDR73

功能概要

WDR73 基因产物(1)

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z