Gene Gene information from NCBI Gene database.
Entrez ID 79048
Gene name SECIS binding protein 2
Gene symbol SECISBP2
Synonyms (NCBI Gene)
SBP2THMA1
Chromosome 9
Chromosome location 9q22.2
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 r
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs119461976 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs119461977 A>G,T Pathogenic Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs730880269 G>A Pathogenic Intron variant
rs764344701 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1554716257 T>- Likely-pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
295
miRTarBase ID miRNA Experiments Reference
MIRT020988 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT021606 hsa-miR-142-3p Microarray 17612493
MIRT030066 hsa-miR-26b-5p Microarray 19088304
MIRT038334 hsa-miR-130b-5p CLASH 23622248
MIRT037425 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001514 Process Selenocysteine incorporation IBA
GO:0001514 Process Selenocysteine incorporation IDA 35709277
GO:0001514 Process Selenocysteine incorporation IEA
GO:0001514 Process Selenocysteine incorporation IEA
GO:0003677 Function DNA binding EXP 19467292
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607693 30972 ENSG00000187742
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96T21
Protein name Selenocysteine insertion sequence-binding protein 2 (SECIS-binding protein 2)
Protein function mRNA-binding protein that binds to the SECIS (selenocysteine insertion sequence) element present in the 3'-UTR of mRNAs encoding selenoproteins and facilitates the incorporation of the rare amino acid selenocysteine (PubMed:35709277). Insertion
PDB 7ZJW , 7ZJX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01248 Ribosomal_L7Ae 657 759 Ribosomal protein L7Ae/L30e/S12e/Gadd45 family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in testis. {ECO:0000269|PubMed:12095701}.
Sequence
MASEGPREPESEGIKLSADVKPFVPRFAGLNVAWLESSEACVFPSSAATYYPFVQEPPVT
EQKIYTEDMAFGASTFPPQYLSSEITLHPYAYSPYTLDSTQNVYSVPGSQYLYNQPSCYR
GFQTVKHRNENTCPLPQEMKALFKKKTYDEKKTYDQQKFDSERADGTISSEIKSARGSHH
LSIYAENSLKSDGYHKRTDRKSRIIAKNVSTSKPEFEFTTLDFPELQGAENNMSEIQKQP
KWGPVHSVSTDISLLREVVKPAAVLSKGEIVVKNNPNESVTANAATNSPSCTRELSWTPM
GYVVRQTLSTELSAAPKNVTSMINLKTIASSADPKNVSIPSSEALSSDPSYNKEKHIIHP
TQKSKASQGSDLEQNEASRKNKKKKEKSTSKYEVLTVQEPPRIEDAEEFPNLAVASERRD
RIETPKFQSKQQPQDNFKNNVKKSQLPVQLDLGGMLTALEKKQHSQHAKQSSKPVVVSVG
AVPVLSKECASGERGRRMSQMKTPHNPLDSSAPLMKKGKQREIPKAKKPTSLKKIILKER
QERKQRLQENAVSPAFTSDDTQDGESGGDDQFPEQAELSGPEGMDELISTPSVEDKSEEP
PGTELQRDTEASHLAPNHTTFPKIHSRRFRDYCSQMLSKEVDACVTDLLKELVRFQDRMY
QKDPVKAKTKRRLVLGLREVLKHLKLKKLKCVIISPNCEKIQSKGGLDDTLHTIIDYACE
QNIPFVFALNRKALGRSLNKAVPVSVVGIFSYDGAQDQF
HKMVELTVAARQAYKTMLENV
QQELVGEPRPQAPPSLPTQGPSCPAEDGPPALKEKEEPHYIEIWKKHLEAYSGCTLELEE
SLEASTSQMMNLNL
Sequence length 854
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SECISBP2-related disorder Likely pathogenic rs768602040 RCV003414478
Thyroid hormone metabolism, abnormal 1 Likely pathogenic; Pathogenic rs1477854736, rs777447200, rs200450537, rs119461977, rs730880269, rs763144937, rs2547531853, rs1587875298 RCV001449692
RCV001784955
RCV002280006
RCV000003054
RCV000003055
RCV003331808
RCV003333490
RCV000791253
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 29882503
Carcinoma Renal Cell Associate 36530957
Developmental Disabilities Associate 32084277
Growth Disorders Associate 19602558
Immunologic Deficiency Syndromes Associate 32084277
Immunologic Deficiency Syndromes Stimulate 32295391
Immunologic Deficiency Syndromes Inhibit 39315526
Inflammation Associate 30286747
Learning Disabilities Associate 39315526
Lymphoma Large B Cell Diffuse Associate 33077808