Gene Gene information from NCBI Gene database.
Entrez ID 55095
Gene name Sterile alpha motif domain containing 4B
Gene symbol SAMD4B
Synonyms (NCBI Gene)
SMGBSmaug2
Chromosome 19
Chromosome location 19q13.2
miRNA miRNA information provided by mirtarbase database.
466
miRTarBase ID miRNA Experiments Reference
MIRT052494 hsa-let-7a-5p CLASH 23622248
MIRT048758 hsa-miR-93-5p CLASH 23622248
MIRT047801 hsa-miR-30d-5p CLASH 23622248
MIRT044463 hsa-miR-320a CLASH 23622248
MIRT038908 hsa-miR-93-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000289 Process Nuclear-transcribed mRNA poly(A) tail shortening IBA
GO:0000932 Component P-body IBA
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619231 25492 ENSG00000179134
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5PRF9
Protein name Protein Smaug homolog 2 (Smaug 2) (hSmaug2) (Sterile alpha motif domain-containing protein 4B) (SAM domain-containing protein 4B)
Protein function Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 297 357 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in embryonic and adult tissues. {ECO:0000269|PubMed:20510020}.
Sequence
MMFRDQVGILAGWFKGWNECEQTVALLSLLKRVTRTQARFLQLCLEHSLADCNDIHLLES
EANSAAIVSQWQQESKEKVVSLLLSHLPLLQPGNTEAKSEYMRLLQKVLAYSIESNAFIE
ESRQLLSYALIHPATTLEDRNALALWLSHLEERLASGFRSRPEPSYHSRQGSDEWGGPAE
LGPGEAGPGWQDKPPRENGHVPFHPSSSVPPAINSIGSNANTGLPCQIHPSPLKRSMSLI
PTSPQVPGEWPSPEELGARAAFTTPDHAPLSPQSSVASSGSEQTEEQGSSRNTFQEDGSG
MKDVPSWLKSLRLHKYAALFSQMSYEEMMTLTEQHLESQNVTKGARHKIALSIQKLR
ERQ
SVLKSLEKDVLEGGNLRNALQELQQIIITPIKAYSVLQATVAAATTTPTAKDGAPGEPPL
PGAEPPLAHPGTDKGTEAKDPPAVENYPPPPAPAPTDGSEPAPAPVADGDIPSQFTRVMG
KVCTQLLVSRPDEENITSYLQLIEKCLTHEAFTETQKKRLLSWKQQVLKLLRTFPRKAAL
EMQNYRQQKGWAFGSNSLPIAGSVGMGVARRTQRQFPMPPRALPPGRMGLLSPSGIGGVS
PRHALTSPSLGGQGRQNLWFANPGGSNSMPSQSRSSVQRTHSLPVHSSPQAILMFPPDCP
VPGPDLEINPTLESLCLSMTEHALGDGTDKTSTI
Sequence length 694
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations