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  2. DLX4 - distal-less homeobox 4 Gene

DLX4 - distal-less homeobox 4 Gene

中文名称:无远端同源盒 4

种属: Homo sapiens

同用名: BP1; DLX7; DLX8; DLX9; OFC15

基因 ID: 1748 | 基因类型: protein coding

关于 DLX4

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,968,572-49,974,959 (from NCBI)

This gene has 6 transcripts (splice variants), 453 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in placenta (RPKM 1.9), skin (RPKM 0.3) and 3 other tissues.

功能概要

许多脊椎动物含有同源框的基因已根据它们与果蝇发育基因的序列相似性得到鉴定。 Dlx 基因家族的成员包含一个与 Distal-less (Dll) 基因相关的同源盒,Dll 是一种在发育中的果蝇的头部和四肢中表达的基因。 Distal-less (Dlx) 基因家族包含至少 6 个不同的成员,DLX1-DLX6。 DLX 蛋白被假定在前脑和颅面发育中发挥作用。已经描述了该基因的三种转录物变体,但是,尚未描述一种变体的全长性质。对这两种剪接变体的研究表明,一种编码的异构体作为 β-珠蛋白基因的阻遏物起作用,而另一种异构体则缺乏该功能。[RefSeq 提供,2008 年 7 月]

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the Other isoform lacks that function. [provided by RefSeq, Jul 2008]

DLX4 基因产物(2)

mRNA Protein Name
NM_001934.4 NP_001925.2 homeobox protein DLX-4 isoform b
NM_138281.3 NP_612138.1 homeobox protein DLX-4 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
11909945 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
11909945 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9073066 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
11909945 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

DLX4 蛋白结构

Homeobox

Homeobox: Homeobox domain (118 - 174)

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

homeobox protein DLX-4

beta protein 1

DLX4 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
DLX4 Q92988 SP1 Homo sapiens P08047
Pull Down
21297662
种属内
DLX4 Q92988 SMAD4 Homo sapiens Q13485
Anti Bait CoIP
21297662
种属内
DLX4 Q92988 SMAD4 Homo sapiens Q13485
Pull Down
21297662
种属内
DLX4 Q92988 NCK1 Homo sapiens P16333
Peptide Array
17474147
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
Orofacial Cleft 15

OFC15

Non-Syndromic Orofacial Cleft 15

Cleft Lip/Palate

Cleft Lip And Palate

Alveolar Cleft Lip And Palate

Cleft Lip-Alveolus-Palate Syndrome

Flp

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome

Tdo Syndrome

Trichodontoosseous Syndrome

TDO

Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral

Orofacial Cleft

Cleft, Orofacial

Amelogenesis Imperfecta, Type Iv

AI4

Aihht

Amelogenesis Imperfecta Type 4

Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism

Amelogenesis Imperfecta 4

Ait

Amelogenesis Imperfecta 2 Hypocalcification Type

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iv

Amelogenesis Imperfecta With Taurodontism

Choriocarcinoma

Chorioepithelioma

Blepharocheilodontic Syndrome 1

Blepharocheilodontic Syndrome

Bcd Syndrome

Elschnig Syndrome

Clefting, Ectropion, And Conical Teeth

Lagophthalmia With Bilateral Cleft Lip And Palate

Blepharo-Cheilo-Odontic Syndrome

Bcds

Ectropion, Inferior, With Cleft Lip And/Or Palate

Blepharo-Cheilo-Dontic Syndrome

BCDS1

Ectropion Inferior Cleft Lip And Or Palate

Clefting-Ectropion-Conical Teeth Syndrome

Ectropion Inferior-Cleft Lip And/Or Palate Syndrome

Lagophthalmia-Cleft Lip And Palate Syndrome

Blepharocheilodontic Syndrome, Type 1

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Lagophthalmos

Defective Lid Closure

Poor Closure Eyelids

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

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
Rattus norvegicus DLX4 RGD RGD:1308744
Bos taurus DLX4 VGNC VGNC:28100
Mus musculus DLX4 MGD MGI:94904
Felis catus DLX4 VGNC VGNC:61523
Macaca mulatta DLX4 VGNC VGNC:99142
Canis familiaris DLX4 VGNC VGNC:53207