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Aliases for SECISBP2 Gene

Aliases for SECISBP2 Gene

  • SECIS Binding Protein 2 2 3 5
  • SBP2 3 4
  • Selenocysteine Insertion Sequence-Binding Protein 2 3
  • SECIS-Binding Protein 2 4

External Ids for SECISBP2 Gene

Previous GeneCards Identifiers for SECISBP2 Gene

  • GC09P087423
  • GC09P089162
  • GC09P091123
  • GC09P091933
  • GC09P061766

Summaries for SECISBP2 Gene

Entrez Gene Summary for SECISBP2 Gene

  • The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for SECISBP2 Gene

SECISBP2 (SECIS Binding Protein 2) is a Protein Coding gene. Diseases associated with SECISBP2 include Thyroid Hormone Metabolism, Abnormal. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include poly(A) RNA binding and ribonucleoprotein complex binding. An important paralog of this gene is SECISBP2L.

UniProtKB/Swiss-Prot for SECISBP2 Gene

  • Binds to the SECIS element in the 3-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB.

Gene Wiki entry for SECISBP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SECISBP2 Gene

Genomics for SECISBP2 Gene

Regulatory Elements for SECISBP2 Gene

Enhancers for SECISBP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F089518 1.8 FANTOM5 Ensembl ENCODE 14.4 +210.3 210327 21.6 HDGF PKNOX1 MLX ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 SEMA4D LOC101927847 IL6RP1 PCNPP2 OR7E31P LOC286238 SECISBP2 SHC3 LOC105376137 LOC105376139
GH09F089399 1.2 FANTOM5 Ensembl ENCODE 16.3 +82.5 82459 2.3 SRF MTA2 IKZF1 NBN EBF1 CREM SPI1 SECISBP2 SEMA4D PA2G4P6 PIR43063
GH09F089379 1.1 Ensembl ENCODE 11.6 +61.3 61272 1.1 HDAC1 PKNOX1 FEZF1 GATA4 GATA2 EGR2 SP5 CEBPB ZNF843 IKZF1 SECISBP2 PIR43063 PA2G4P6
GH09F089371 0.9 Ensembl ENCODE 12.7 +53.6 53608 1.4 KLF1 POLR2A MAFG KLF9 MLLT1 ZNF600 NFE2 KLF8 NFE2L2 SEMA4D SECISBP2 PIR43063 PA2G4P6
GH09F089373 0.9 Ensembl ENCODE 12.7 +56.2 56160 3.2 CTCF KLF1 FEZF1 MNT RAD21 GABPA RAD51 POLR2A GATA2 ZNF512 SEMA4D SECISBP2 PIR43063 PA2G4P6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SECISBP2 on UCSC Golden Path with GeneCards custom track

Promoters for SECISBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001307878 327 2001 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for SECISBP2 Gene

Chromosome:
9
Start:
89,318,473 bp from pter
End:
89,367,117 bp from pter
Size:
48,645 bases
Orientation:
Plus strand

Genomic View for SECISBP2 Gene

Genes around SECISBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SECISBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SECISBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SECISBP2 Gene

Proteins for SECISBP2 Gene

  • Protein details for SECISBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T21-SEBP2_HUMAN
    Recommended name:
    Selenocysteine insertion sequence-binding protein 2
    Protein Accession:
    Q96T21
    Secondary Accessions:
    • F8W892
    • Q5HYY1
    • Q7L1Z0
    • Q8IYC0
    • Q9H0A1

    Protein attributes for SECISBP2 Gene

    Size:
    854 amino acids
    Molecular mass:
    95462 Da
    Quaternary structure:
    • Interacts with SELB.

    Alternative splice isoforms for SECISBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SECISBP2 Gene

Post-translational modifications for SECISBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SECISBP2 Gene

Domains & Families for SECISBP2 Gene

Protein Domains for SECISBP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SECISBP2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SECISBP2 Gene

Function for SECISBP2 Gene

Molecular function for SECISBP2 Gene

UniProtKB/Swiss-Prot Function:
Binds to the SECIS element in the 3-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB.

Gene Ontology (GO) - Molecular Function for SECISBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003730 mRNA 3-UTR binding IDA 16962588
GO:0005515 protein binding IPI 25416956
GO:0035368 selenocysteine insertion sequence binding IBA --
GO:0043021 ribonucleoprotein complex binding IBA --
genes like me logo Genes that share ontologies with SECISBP2: view
genes like me logo Genes that share phenotypes with SECISBP2: view

Human Phenotype Ontology for SECISBP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SECISBP2 Gene

MGI Knock Outs for SECISBP2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SECISBP2 Gene

Localization for SECISBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SECISBP2 Gene

Isoform 1: Nucleus.
Isoform 2: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SECISBP2 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 1

Gene Ontology (GO) - Cellular Components for SECISBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0030529 intracellular ribonucleoprotein complex IBA --
genes like me logo Genes that share ontologies with SECISBP2: view

Pathways & Interactions for SECISBP2 Gene

genes like me logo Genes that share pathways with SECISBP2: view

Pathways by source for SECISBP2 Gene

Interacting Proteins for SECISBP2 Gene

Gene Ontology (GO) - Biological Process for SECISBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001514 selenocysteine incorporation IBA --
GO:0006412 translation IEA --
GO:0021756 striatum development IEA --
GO:0048666 neuron development IEA --
GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA --
genes like me logo Genes that share ontologies with SECISBP2: view

No data available for SIGNOR curated interactions for SECISBP2 Gene

Drugs & Compounds for SECISBP2 Gene

(1) Drugs for SECISBP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SECISBP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SECISBP2: view

Transcripts for SECISBP2 Gene

Unigene Clusters for SECISBP2 Gene

SECIS binding protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SECISBP2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^
SP1:
SP2: - - -
SP3:
SP4: -
SP5: -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11: - - - - -
SP12: - - - -

ExUns: 18a · 18b ^ 19 ^ 20
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for SECISBP2 Gene

GeneLoc Exon Structure for
SECISBP2
ECgene alternative splicing isoforms for
SECISBP2

Expression for SECISBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SECISBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SECISBP2 Gene

This gene is overexpressed in Testis (27.9), Pancreatic juice (13.2), and Fetal ovary (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SECISBP2 Gene



Protein tissue co-expression partners for SECISBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SECISBP2 Gene:

SECISBP2

SOURCE GeneReport for Unigene cluster for SECISBP2 Gene:

Hs.59804

mRNA Expression by UniProt/SwissProt for SECISBP2 Gene:

Q96T21-SEBP2_HUMAN
Tissue specificity: Expressed at high levels in testis.
genes like me logo Genes that share expression patterns with SECISBP2: view

Primer Products

No data available for mRNA differential expression in normal tissues for SECISBP2 Gene

Orthologs for SECISBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SECISBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SECISBP2 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia SECISBP2 34 35
  • 83.83 (n)
dog
(Canis familiaris)
Mammalia SECISBP2 34 35
  • 81.3 (n)
rat
(Rattus norvegicus)
Mammalia Secisbp2 34
  • 78.98 (n)
mouse
(Mus musculus)
Mammalia Secisbp2 34 16 35
  • 77.92 (n)
oppossum
(Monodelphis domestica)
Mammalia SECISBP2 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves SECISBP2 34 35
  • 58 (n)
lizard
(Anolis carolinensis)
Reptilia SECISBP2 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia secisbp2 34
  • 60.73 (n)
Str.18761 34
zebrafish
(Danio rerio)
Actinopterygii LOC101883890 34
  • 57.9 (n)
secisbp2 35
  • 42 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4041 34
fruit fly
(Drosophila melanogaster)
Insecta Sbp2 35
  • 27 (a)
OneToMany
Species where no ortholog for SECISBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SECISBP2 Gene

ENSEMBL:
Gene Tree for SECISBP2 (if available)
TreeFam:
Gene Tree for SECISBP2 (if available)

Paralogs for SECISBP2 Gene

Paralogs for SECISBP2 Gene

(3) SIMAP similar genes for SECISBP2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SECISBP2 Gene

genes like me logo Genes that share paralogs with SECISBP2: view

Variants for SECISBP2 Gene

Sequence variations from dbSNP and Humsavar for SECISBP2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs119461976 Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698], Pathogenic 89,348,095(+) AGAAC(A/G)GCAAG nc-transcript-variant, reference, missense
rs119461977 Pathogenic 89,341,356(+) ATTTT(A/T)AAAAT nc-transcript-variant, reference, stop-gained
rs730880269 Pathogenic 89,338,609(+) ATGGT(A/G)TGATA intron-variant
rs10119002 -- 89,348,767(+) CACCA(A/G)GGGCT intron-variant
rs10573287 -- 89,319,400(+) ATCTG(-/TGT)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SECISBP2 Gene

Variant ID Type Subtype PubMed ID
nsv831651 CNV gain 17160897
nsv1041327 CNV gain 25217958
esv3621014 CNV gain 21293372
esv3390930 CNV insertion 20981092
esv3306291 CNV mobile element insertion 20981092
esv29434 CNV gain+loss 19812545

Variation tolerance for SECISBP2 Gene

Residual Variation Intolerance Score: 8.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.79; 58.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SECISBP2 Gene

Human Gene Mutation Database (HGMD)
SECISBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SECISBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SECISBP2 Gene

Disorders for SECISBP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SECISBP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and Swiss-Prot

Disorder Aliases PubMed IDs
thyroid hormone metabolism, abnormal
  • short stature-delayed bone age due to thyroid hormone metabolism deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SEBP2_HUMAN
  • Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]: A disorder associated with a reduction in type II iodothyronine deiodinase activity. {ECO:0000269 PubMed:16228000}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SECISBP2

Genetic Association Database (GAD)
SECISBP2
Human Genome Epidemiology (HuGE) Navigator
SECISBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SECISBP2
genes like me logo Genes that share disorders with SECISBP2: view

No data available for Genatlas for SECISBP2 Gene

Publications for SECISBP2 Gene

  1. Functional characterization of alternatively spliced human SECISBP2 transcript variants. (PMID: 19004874) Papp L.V. … Khanna K.K. (Nucleic Acids Res. 2008) 3 4 22 64
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Genetic variants in selenoprotein genes increase risk of colorectal cancer. (PMID: 20378690) MAcplan C. … Hesketh J.E. (Carcinogenesis 2010) 3 46 64
  5. SECIS-binding protein 2, a key player in selenoprotein synthesis, is an intrinsically disordered protein. (PMID: 19467292) OliAcric V. … Dumas P. (Biochimie 2009) 3 22 64

Products for SECISBP2 Gene

Sources for SECISBP2 Gene

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