SECISBP2 - SECIS binding protein 2 Gene

Homo sapiens

Also known as SBP2; THMA1

Gene ID: 79048 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Diseases

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12626	SECISBP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS12627	SECISBP2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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