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  2. EVX2 - even-skipped homeobox 2 Gene

EVX2 - even-skipped homeobox 2 Gene

中文名称:偶数跳过的同源框 2

种属: Homo sapiens

同用名: EVX-2

基因 ID: 344191 | 基因类型: protein coding

关于 EVX2

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,077,472-176,083,962 (from NCBI)

This gene has 1 transcript (splice variant), 186 orthologues and 50 paralogues. Low expression observed in reference dataset.

功能概要

该基因位于 2 号染色体上 HOXD 基因簇的 5' 端。编码的蛋白质是同源框转录因子,与果蝇 even-skipped (eve) 基因编码的蛋白质相关,分割基因的规则类。 HOXD 基因簇 (包括该基因和 HOXD9-HOXD13 基因) 5' 端的 117 kb 微缺失导致并多指畸形,这是一种导致肢体畸形的显性遗传病。[RefSeq 提供,2009 年 9 月]

This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009]

EVX2 基因产物(1)

mRNA Protein Name
NM_001080458.2 NP_001073927.1 homeobox even-skipped homolog protein 2
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
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

EVX2 蛋白结构

Homeobox

Homeobox: Homeobox domain (189 - 245)

  • 0
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  • 400
  • 476 a.a.
蛋白主名 其他名称

homeobox even-skipped homolog protein 2

eve, even-skipped homeo box homolog 2

EVX2 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
EVX2 Q03828 KRTAP19-7 Homo sapiens Q3SYF9 32296183
种属内
EVX2 Q03828 KRTAP19-7 Homo sapiens Q3SYF9 32296183
种属内
EVX2 Q03828 KRTAP19-7 Homo sapiens Q3SYF9 32296183
种属内
EVX2 Q03828 KRTAP19-5 Homo sapiens Q3LI72 32296183
种属内
EVX2 Q03828 KRTAP19-5 Homo sapiens Q3LI72 32296183
种属内
EVX2 Q03828 KRTAP19-5 Homo sapiens Q3LI72 32296183
种属内
EVX2 Q03828 BPIFB3 Homo sapiens P59826 32296183
种属内
EVX2 Q03828 BPIFB3 Homo sapiens P59826 32296183
种属内
EVX2 Q03828 ITIH6 Homo sapiens Q6UXX5 32296183
种属内
EVX2 Q03828 ITIH6 Homo sapiens Q6UXX5 32296183
种属内
EVX2 Q03828 ITIH6 Homo sapiens Q6UXX5 32296183
种属内
EVX2 Q03828 ZMYND12 Homo sapiens Q9H0C1 32296183
种属内
EVX2 Q03828 ZMYND12 Homo sapiens Q9H0C1 32296183
种属内
EVX2 Q03828 ZMYND12 Homo sapiens Q9H0C1 32296183
种属内
EVX2 Q03828 KRTAP6-1 Homo sapiens Q3LI64 32296183
种属内
EVX2 Q03828 KRTAP6-1 Homo sapiens Q3LI64 32296183
种属内
EVX2 Q03828 KRTAP6-1 Homo sapiens Q3LI64 32296183
种属内
EVX2 Q03828 CNFN Homo sapiens Q9BYD5 32296183
种属内
EVX2 Q03828 CNFN Homo sapiens Q9BYD5 32296183
种属内
EVX2 Q03828 CNFN Homo sapiens Q9BYD5 32296183
种属内
EVX2 Q03828 DMAC2L Homo sapiens Q99766-3 32296183
种属内
EVX2 Q03828 DMAC2L Homo sapiens Q99766-3 32296183
种属内
EVX2 Q03828 DMAC2L Homo sapiens Q99766-3 32296183
种属内
EVX2 Q03828 LASP1 Homo sapiens Q14847-2 32296183
种属内
EVX2 Q03828 LASP1 Homo sapiens Q14847-2 32296183
种属内
EVX2 Q03828 LASP1 Homo sapiens Q14847-2 32296183
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
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Split-Hand/Foot Malformation 6

Split Hand-Foot Malformation 6

SHFM6

Ectrodactyly, Autosomal Recessive

Ectrodactyly Autosomal Recessive

Split-Hand/Foot Malformation, Type 6

Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5

Split-Hand/Foot Malformation 2

SHFM2

Shfd2

Shsf2

Split Hand/Foot Malformation 2

Split Hand-Foot Malformation 2

Split-Hand/Split-Foot Anomaly, X-Linked

Split-Hand/Foot Deformity 2

Split Hand/Foot Malformation X-Linked

Split Hand Foot Anomaly - X-Linked

Split Hand Foot Deformity 2

Brachydactyly, Type A3

Brachydactyly Type A3

BDA3

Brachydactyly-Clinodactyly

Brachymesophalangy V

Brachymesophalangy 5

Brachydactyly Clinodactyly

Split-Hand/Foot Malformation 4

SHFM4

Split Hand-Foot Malformation 4

Split-Hand/Foot Malformation, Type 4

Split Hand-Foot Malformation

Ectrodactyly

Split-Hand/Foot Malformation

Lobster-Claw Deformity

Split-Hand Deformity

Split Hand Foot Malformation

Shfm

Split Hand Foot Deformity

Split Hand Foot Deformity 1

Brachydactyly, Type D

Brachydactyly Type D

BDD

Stub Thumb

Brachydactyly D

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

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
Bos taurus EVX2 VGNC VGNC:106727
Rattus norvegicus EVX2 RGD RGD:1305594
Macaca mulatta EVX2 VGNC VGNC:104527
Felis catus EVX2 VGNC VGNC:61993
Canis familiaris EVX2 VGNC VGNC:40507
Mus musculus EVX2 MGD MGI:95462