Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79048
Gene name Gene Name - the full gene name approved by the HGNC.
SECIS binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SECISBP2
Synonyms (NCBI Gene) Gene synonyms aliases
SBP2, THMA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
THMA1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001514 Process Selenocysteine incorporation IBA 21873635
GO:0003723 Function RNA binding HDA 22658674
GO:0003730 Function MRNA 3'-UTR binding IBA 21873635
GO:0003730 Function MRNA 3'-UTR binding IDA 16962588, 17332014
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607693 30972 ENSG00000187742
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Thyroid hormone metabolism Thyroid Hormone Metabolism, Abnormal rs119461977, rs730880269, rs879255589, rs1587875298 19602558, 16228000, 21084748
Unknown
Disease term Disease name Evidence References Source
Thyroid Hormone Metabolism thyroid hormone metabolism, abnormal 1 GenCC
Short Stature-Delayed Bone Age short stature-delayed bone age due to thyroid hormone metabolism deficiency GenCC
Associations from Text Mining
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