Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79048 |
Gene nameGene Name - the full gene name approved by the HGNC.
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SECIS binding protein 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SECISBP2 |
SynonymsGene synonyms aliases
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SBP2, THMA1 |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q22.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP 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 |
rs1587875298 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
MASEGPREPESEGIKLSADVKPFVPRFAGLNVAWLESSEACVFPSSAATYYPFVQEPPVT EQKIYTEDMAFGASTFPPQYLSSEITLHPYAYSPYTLDSTQNVYSVPGSQYLYNQPSCYR GFQTVKHRNENTCPLPQEMKALFKKKTYDEKKTYDQQKFDSERADGTISSEIKSARGSHH LSIYAENSLKSDGYHKRTDRKSRIIAKNVSTSKPEFEFTTLDFPELQGAENNMSEIQKQP KWGPVHSVSTDISLLREVVKPAAVLSKGEIVVKNNPNESVTANAATNSPSCTRELSWTPM GYVVRQTLSTELSAAPKNVTSMINLKTIASSADPKNVSIPSSEALSSDPSYNKEKHIIHP TQKSKASQGSDLEQNEASRKNKKKKEKSTSKYEVLTVQEPPRIEDAEEFPNLAVASERRD RIETPKFQSKQQPQDNFKNNVKKSQLPVQLDLGGMLTALEKKQHSQHAKQSSKPVVVSVG AVPVLSKECASGERGRRMSQMKTPHNPLDSSAPLMKKGKQREIPKAKKPTSLKKIILKER QERKQRLQENAVSPAFTSDDTQDGESGGDDQFPEQAELSGPEGMDELISTPSVEDKSEEP PGTELQRDTEASHLAPNHTTFPKIHSRRFRDYCSQMLSKEVDACVTDLLKELVRFQDRMY QKDPVKAKTKRRLVLGLREVLKHLKLKKLKCVIISPNCEKIQSKGGLDDTLHTIIDYACE QNIPFVFALNRKALGRSLNKAVPVSVVGIFSYDGAQDQFHKMVELTVAARQAYKTMLENV QQELVGEPRPQAPPSLPTQGPSCPAEDGPPALKEKEEPHYIEIWKKHLEAYSGCTLELEE SLEASTSQMMNLNL
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Sequence length |
854 |
Interactions |
View interactions |
Associated diseases
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|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Disorder of amino acid metabolism |
Amino Acid Metabolism, Inborn Errors |
|
16228000 |
Dwarfism |
Dwarfism |
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Inherited errors of amino acid metabolism |
Amino Acid Metabolism, Inherited Disorders |
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16228000 |
Short stature-delayed bone age |
Short stature-delayed bone age due to thyroid hormone metabolism deficiency |
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