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SECISBP2 SECIS binding protein 2 [ Homo sapiens (human) ]

Gene ID: 79048, updated on 7-Jun-2020

Summary

Official Symbol
SECISBP2provided by HGNC
Official Full Name
SECIS binding protein 2provided by HGNC
Primary source
HGNC:HGNC:30972
See related
Ensembl:ENSG00000187742 MIM:607693
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SBP2
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]
Expression
Ubiquitous expression in testis (RPKM 20.1), thyroid (RPKM 9.1) and 25 other tissues See more
Orthologs

Genomic context

See SECISBP2 in Genome Data Viewer
Location:
9q22.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (89318500..89367117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (91933394..91974561)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376136 Neighboring gene microRNA 3153 Neighboring gene CDC28 protein kinase regulatory subunit 2 Neighboring gene semaphorin 4D Neighboring gene proliferation-associated 2G4 pseudogene 6 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45753, DKFZp686C09169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
selenocysteine insertion sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
selenocysteine incorporation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striatum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012177.1 RefSeqGene

    Range
    5004..46167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282688.2NP_001269617.1  selenocysteine insertion sequence-binding protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is 1 aa shorter than isoform 1.
    Source sequence(s)
    AF380995, AK302852, AL160054, BG572344, BX000356
    UniProtKB/Swiss-Prot
    Q96T21
    UniProtKB/TrEMBL
    B4DZC7
    Conserved Domains (1) summary
    pfam01248
    Location:656756
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  2. NM_001282689.2NP_001269618.1  selenocysteine insertion sequence-binding protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001269618.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site in the 5' coding region, which results in translation initiation from an alternate start codon compared to variant 1. The encoded isoform (3) is shorter, with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK290182, AL929575, BG572344, BP219148
    Consensus CDS
    CCDS65076.1
    UniProtKB/Swiss-Prot
    Q96T21
    Related
    ENSP00000364959.3, ENST00000339901.8
    Conserved Domains (1) summary
    pfam01248
    Location:584684
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  3. NM_001282690.1NP_001269619.1  selenocysteine insertion sequence-binding protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001269619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1
    Source sequence(s)
    AK299161, AL160054, AL929575, BG572344, BX000356
    Consensus CDS
    CCDS65077.1
    UniProtKB/TrEMBL
    B4DR97
    Related
    ENSP00000436650.2, ENST00000534113.6
    Conserved Domains (1) summary
    pfam01248
    Location:589689
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  4. NM_001354696.2NP_001341625.1  selenocysteine insertion sequence-binding protein 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame acceptor splice site in the mid-coding region compared to variant 1. The encoded shorter isoform (5) lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    BC068466, BC099900, BG572344, BP219148
    Conserved Domains (1) summary
    pfam01248
    Location:618718
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  5. NM_001354697.2NP_001341626.1  selenocysteine insertion sequence-binding protein 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame acceptor splice site in the mid-coding region compared to variant 1. The encoded shorter isoform (6) lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    BC068466, BG572344, BP219148, KX533480
    Conserved Domains (1) summary
    pfam01248
    Location:619719
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  6. NM_001354698.2NP_001341627.1  selenocysteine insertion sequence-binding protein 2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame acceptor splice site and lacks an in-frame exon in the mid-coding region compared to variant 1. The encoded shorter isoform (7) lacks two internal protein segments compared to isoform 1.
    Source sequence(s)
    BC099900, BG572344, BP219148, KX533480
    Conserved Domains (1) summary
    pfam01248
    Location:588688
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  7. NM_001354702.2NP_001341631.1  selenocysteine insertion sequence-binding protein 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate acceptor splice site in the mid-coding region and initiates translation from an alternate start codon compared to variant 1. The encoded isoform (8) is shorter, with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AI127999, BC068466, BG572344, BP219148
    Conserved Domains (1) summary
    pfam01248
    Location:362462
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  8. NM_024077.5NP_076982.3  selenocysteine insertion sequence-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_076982.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longest isoform (1).
    Source sequence(s)
    BC068466, BG572344, BP219148
    Consensus CDS
    CCDS6683.1
    UniProtKB/Swiss-Prot
    Q96T21
    Related
    ENSP00000364965.3, ENST00000375807.8
    Conserved Domains (1) summary
    pfam01248
    Location:657757
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    89318500..89367117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447669.1XP_024303437.1  selenocysteine insertion sequence-binding protein 2 isoform X9

    Conserved Domains (1) summary
    pfam01248
    Location:358458
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  2. XM_024447667.1XP_024303435.1  selenocysteine insertion sequence-binding protein 2 isoform X8

    Conserved Domains (1) summary
    pfam01248
    Location:545645
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  3. XM_017015122.2XP_016870611.1  selenocysteine insertion sequence-binding protein 2 isoform X5

  4. XM_024447666.1XP_024303434.1  selenocysteine insertion sequence-binding protein 2 isoform X6

    Conserved Domains (1) summary
    pfam01248
    Location:589689
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  5. XM_024447668.1XP_024303436.1  selenocysteine insertion sequence-binding protein 2 isoform X9

    Conserved Domains (1) summary
    pfam01248
    Location:358458
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  6. XM_011519000.2XP_011517302.1  selenocysteine insertion sequence-binding protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011517302.1

    UniProtKB/Swiss-Prot
    Q96T21
    Conserved Domains (1) summary
    pfam01248
    Location:589689
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  7. XM_011519001.1XP_011517303.1  selenocysteine insertion sequence-binding protein 2 isoform X2

    Conserved Domains (1) summary
    pfam01248
    Location:559659
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  8. XM_011519002.1XP_011517304.1  selenocysteine insertion sequence-binding protein 2 isoform X3

    Conserved Domains (1) summary
    pfam01248
    Location:551651
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  9. XM_011519003.1XP_011517305.1  selenocysteine insertion sequence-binding protein 2 isoform X4

    Conserved Domains (1) summary
    pfam01248
    Location:550650
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  10. XM_006717282.2XP_006717345.1  selenocysteine insertion sequence-binding protein 2 isoform X7

    See identical proteins and their annotated locations for XP_006717345.1

    UniProtKB/Swiss-Prot
    Q96T21
    Conserved Domains (1) summary
    pfam01248
    Location:584684
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

RNA

  1. XR_929840.1 RNA Sequence

  2. XR_002956807.1 RNA Sequence

  3. XR_001746376.1 RNA Sequence

  4. XR_001746377.1 RNA Sequence

  5. XR_001746378.1 RNA Sequence

  6. XR_929843.1 RNA Sequence

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