SECISBP2 - SECIS binding protein 2 Gene

Also Known as SBP2; THMA1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 79048

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables DNA binding	EXP EXP: Inferred from Experiment	19467292	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	16962588	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables selenocysteine insertion sequence binding	IDA IDA: Inferred from direct assay	35709277	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in selenocysteine incorporation	IDA IDA: Inferred from direct assay	35709277	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SECISBP2 Protein Structure

Ribosomal_L7Ae

0
200
400
600
800
854 a.a.

Protein Preferred Names	Protein Names
selenocysteine insertion sequence-binding protein 2	Sec insertion sequence-binding protein 2

SECISBP2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	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

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12626	SECISBP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12627	SECISBP2L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SECISBP2	NCBI