2. Gene
  3. SECISBP2 - SECIS binding protein 2 Gene

SECISBP2 - SECIS binding protein 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SECIS 结合蛋白 2

种属: Homo sapiens

同用名: SBP2; THMA1

基因 ID: 79048 | 基因类型: protein coding

关于 SECISBP2

Cytogenetic location: 9q22.2 Genomic coordinates (GRCh38): 9:89,318,500-89,367,117 (from NCBI)

This gene has 9 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 20.1), thyroid (RPKM 9.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质是参与将硒代半胱氨酸 (Sec) 共翻译插入硒蛋白的机制的重要组成部分之一。 Sec 由 UGA 密码子编码，通常表示翻译终止。将 UGA 重新编码为 Sec 密码子需要一个 Sec 插入序列 (SECIS) 元素；存在于真核生物硒蛋白 mRNA 的 3' 非翻译区。该蛋白质特异性结合 SECIS 元件，该元件受 Sec 特异性翻译延伸因子的刺激。该基因的突变与 II 型碘甲腺原氨酸脱碘酶 (一种硒蛋白) 的酶活性降低和甲状腺激素代谢异常有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2017 年 8 月]

The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3' untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

SECISBP2 基因产物(8)

mRNA Protein Name
NM_001282688.2 NP_001269617.1 selenocysteine insertion sequence-binding protein 2 isoform 2
NM_001282689.2 NP_001269618.1 selenocysteine insertion sequence-binding protein 2 isoform 3
NM_001282690.1 NP_001269619.1 selenocysteine insertion sequence-binding protein 2 isoform 4
NM_001354696.2 NP_001341625.1 selenocysteine insertion sequence-binding protein 2 isoform 5
NM_001354697.2 NP_001341626.1 selenocysteine insertion sequence-binding protein 2 isoform 6
NM_001354698.2 NP_001341627.1 selenocysteine insertion sequence-binding protein 2 isoform 7
NM_001354702.2 NP_001341631.1 selenocysteine insertion sequence-binding protein 2 isoform 8
NM_024077.5 NP_076982.3 selenocysteine insertion sequence-binding protein 2 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 DNA binding EXP
EXP: 通过实验结果推断
19467292 GOA
enables mRNA 3'-UTR binding IDA
IDA: 通过直接分析推断
16962588 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables selenocysteine insertion sequence binding IDA
IDA: 通过直接分析推断
35709277 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in selenocysteine incorporation IDA
IDA: 通过直接分析推断
35709277 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

SECISBP2 蛋白结构

Ribosomal_L7Ae

Ribosomal_L7Ae: Ribosomal protein L7Ae/L30e/S12e/Gadd45 family (658 - 757)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 854 a.a.
蛋白主名 其他名称

selenocysteine insertion sequence-binding protein 2

Sec insertion sequence-binding protein 2

SECISBP2 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
Intra SECISBP2 Q96T21 FAM168A Homo sapiens Q92567-2
Y2H Prey Pooling
32296183
Intra SECISBP2 Q96T21 FAM168A Homo sapiens Q92567-2
Y2H Array
32296183
Intra SECISBP2 Q96T21 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
Intra SECISBP2 Q96T21 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
25416956
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
Thyroid Hormone Metabolism, Abnormal, 1

Thyroid Hormone Metabolism, Abnormal

THMA

Thyroid Hormone Metabolism, Abnormal 1

THMA1

Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d
Keshan Disease

Caused By Deficiency Of Selenium In The Diet

Enlarged Heart And Poor Heart Function
Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1
Babesiosis

Babesiasis

Infection By Babesia

Piroplasmosis

Human Babesiosis

Babesia Parasite Infection

Piroplasma Infection
Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Thyroid Hormone Resistance Syndrome

Thyroid Hormone Resistance

GRTHD

Gthr

Thyroid Hormone Unresponsiveness

Generalized Thyroid Hormone Resistance

Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Thyroid Hormones

Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

Refetoff Syndrome

Thyroid Hormone Responsiveness Defect

Familial Euthyroid Hyperthyroxinemia, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Testicular Torsion

Spermatic Cord Torsion

Torsion Of Testis

Torsion Of Testicular Cord

Torsion Of Testicle

Torsion Of Spermatic Cord

Torsion Of Spermatic Cord Nos
Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia
Allan-Herndon-Dudley Syndrome

AHDS

Allan-Herndon Syndrome

Monocarboxylate Transporter 8 Deficiency

MCT8 DEFICIENCY

Mental Retardation, X-Linked, With Hypotonia

Triiodothyronine Resistance

T3 Resistance

Mental Retardation And Muscular Atrophy

Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Intellectual Disability And Muscular Atrophy

Monocarboxylate Transporter-8 Deficiency

T3 Resisitence

Triiodothyronine Resistence

X-Linked Intellectual Disability With Hypotonia

Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency

Monocarboxylate Transporter 8 Deficiency

X-Linked Intellectual Disability-Hypotonia Syndrome
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a
Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12626 SECISBP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS12627 SECISBP2L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SECISBP2 VGNC VGNC:45978
Felis catus SECISBP2 VGNC VGNC:64975
Macaca mulatta SECISBP2 VGNC VGNC:81564
Mus musculus SECISBP2 MGD MGI:1922670
Bos taurus SECISBP2 VGNC VGNC:34419
Rattus norvegicus SECISBP2 RGD RGD:620991
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