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  2. SP3 - Sp3 transcription factor Gene

SP3 - Sp3 transcription factor Gene

中文名称:Sp3 转录因子

种属: Homo sapiens

同用名: SPR2

基因 ID: 6670 | 基因类型: protein coding

关于 SP3

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:173,900,775-173,965,702 (from NCBI)

This gene has 11 transcripts (splice variants), 276 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 21.0), thyroid (RPKM 19.7) and 25 other tissues.

功能概要

该基因属于 Sp1 相关基因家族,编码转录因子,通过结合靶基因中的共有 GC- 和 GT-box 调节元件来调节转录。该蛋白质包含一个锌指 DNA 结合结构域和几个反式激活结构域,据报道可作为一种双功能转录因子,可刺激或抑制许多基因的转录。已经为该基因描述了编码不同同种型的转录变体,并且据报道其中一种从非 AUG (AUA) 起始密码子开始翻译。还注意到由于使用替代下游翻译起始位点而产生的其他亚型。已在 13 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2010 年 2 月]

This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]

SP3 基因产物(3)

mRNA Protein Name
NM_001017371.5 NP_001017371.3 transcription factor Sp3 isoform 2
NM_001172712.1 NP_001166183.1 transcription factor Sp3 isoform 3
NM_003111.5 NP_003102.1 transcription factor Sp3 isoform 1
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 RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
14979875 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
17130167 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10391891 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 DNA-templated transcription IMP
IMP: 通过突变表型推断
20091743 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12771217 GOA
involved in positive regulation of transcription by RNA polymerase II IGI
IGI: 通过遗传相互作用推断
14979875 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
14979875 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12560508 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

SP3 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (637 - 664)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (668 - 690)

  • 0
  • 200
  • 400
  • 600
  • 781 a.a.
蛋白主名 其他名称

transcription factor Sp3

GC-binding transcription factor Sp3

关联疾病

疾病名称 别名
Basidiobolomycosis

Infection By Basidiobolus

Subcutaneous Mucoromycosis Due To Basidiobolus Ranarum

Wolfram Syndrome

Didmoad Syndrome

Didmoad

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Wfs

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

Didmoadud

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

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
Macaca mulatta SP3 VGNC VGNC:77846
Rattus norvegicus SP3 RGD RGD:1583765
Bos taurus SP3 VGNC VGNC:35154
Felis catus SP3 VGNC VGNC:65587
Canis familiaris SP3 VGNC VGNC:53107
Mus musculus SP3 MGD MGI:1277166
Others SP3 NCBI