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  2. ALX3 - ALX homeobox 3 Gene

ALX3 - ALX homeobox 3 Gene

中文名称:ALX 同源框 3

种属: Homo sapiens

同用名: FND; FND1

基因 ID: 257 | 基因类型: protein coding

关于 ALX3

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:110,059,870-110,070,672 (from NCBI)

This gene has 2 transcripts (splice variants), 177 orthologues, 50 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 1.8), endometrium (RPKM 1.4) and 24 other tissues.

功能概要

该基因编码一种具有同源框 DNA 结合结构域的核蛋白,该结构域作为参与细胞类型分化和发育的转录调节因子发挥作用。该基因启动子的优先甲基化与晚期神经母细胞瘤相关。[RefSeq 提供,2008 年 7 月]

This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]

ALX3 基因产物(1)

mRNA Protein Name
NM_006492.3 NP_006483.2 homeobox protein aristaless-like 3
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

ALX3 蛋白结构

Homeobox

Homeobox: Homeobox domain (154 - 210)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
蛋白主名 其他名称

homeobox protein aristaless-like 3

aristaless-like homeobox 3

关联疾病

疾病名称 别名
Frontonasal Dysplasia 1

Frontorhiny

Frontonasal Dysplasia

Fnd

Frontonasal Malformation

Fnm

Median Facial Cleft Syndrome

Midline Facial Cleft

FND1

Median Cleft Face Syndrome

Median Cleft Syndrome

Frontonasal Dysplasia Sequence

Median Facial Cleft

Tessier Number 0-14 And 30 Facial Cleft

Alx3-Related Frontonasal Dysplasia

Frontonasal Dysplasia Type 1

Isolated Median Cleft Face Syndrome

Doid:0081044

Doid:0081045

Dysplasia, Frontonasal, Type

Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

Acromelic Frontonasal Dysostosis

AFND

Acromelic Frontonasal Dysplasia

Frontonasal Dysplasia Acromelic

Toriello Syndrome

Dysostosis, Acromelic Frontonasal

Sweet Syndrome

Parietal Foramina

Enlarged Parietal Foramina

Hereditary Cranium Bifidum

Symmetric Parietal Foramina

Catlin Marks

Foramina Parietalia Permagna

Caitlin Marks

Cranium Bifidum

Cranium Bifidum Occultum

Fenestrae Parietals Symmetricae

Fpp

Giant Parietal Foramina

Pfm

Fenestrae Parietales Symmetricae

Foramina, Parietal

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia

CFNS

Cfnd

Craniofrontonasal Dysostosis

Craniofrontonasal Dystosis

Dysplasia, Craniofrontonasal

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Syngnathia

Cleft Palate-Lateral Synechia Syndrome

Cpls Syndrome

Cleft Palate Lateral Synechia Syndrome

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Chromosome 10q23 Deletion Syndrome
Epiphyseal Dysplasia, Multiple, 1

EDM1

Multiple Epiphyseal Dysplasia 1

Multiple Epiphyseal Dysplasia Type 1

Med1

Multiple Epiphyseal Dysplasia Comp-Related

Polyepiphyseal Dysplasia Type 1

Multiple Epiphyseal Dysplasia, Comp-Related

Epiphyseal Dysplasia Multiple 1

Epiphyseal Dysplasia, Multiple 1

Dysplasia, Epiphyseal, Multiple, Type 1

Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Orofacial Cleft

Cleft, Orofacial

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ALX3 VGNC VGNC:37821
Macaca mulatta ALX3 VGNC VGNC:106320
Mus musculus ALX3 MGD MGI:1277097
Bos taurus ALX3 VGNC VGNC:25854
Rattus norvegicus ALX3 RGD RGD:1359270
Felis catus ALX3 VGNC VGNC:67424