Gene Gene information from NCBI Gene database.
Entrez ID 57713
Gene name Scm like with four mbt domains 2
Gene symbol SFMBT2
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10p14
miRNA miRNA information provided by mirtarbase database.
510
miRTarBase ID miRNA Experiments Reference
MIRT699685 hsa-miR-4282 HITS-CLIP 23313552
MIRT699684 hsa-miR-6773-3p HITS-CLIP 23313552
MIRT699683 hsa-miR-215-3p HITS-CLIP 23313552
MIRT699682 hsa-miR-616-3p HITS-CLIP 23313552
MIRT382525 hsa-miR-6888-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IBA
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 23385818, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 23385818
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615392 20256 ENSG00000198879
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VUG0
Protein name Scm-like with four MBT domains protein 2 (Scm-like with 4 MBT domains protein 2)
Protein function Transcriptional repressor of HOXB13 gene.
PDB 1WJR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02820 MBT 78 148 mbt repeat Domain
PF02820 MBT 191 260 mbt repeat Domain
PF02820 MBT 304 376 mbt repeat Domain
PF02820 MBT 412 481 mbt repeat Domain
PF12140 SLED 528 643 SLED domain Domain
PF00536 SAM_1 822 885 SAM domain (Sterile alpha motif) Domain
Sequence
MESTLSASNMQDPSSSPLEKCLGSANGNGDLDSEEGSSLEETGFNWGEYLEETGASAAPH
TSFKHVEISIQSNFQPGMKLEVANKNNPDTYWVATIITTCGQLLLLRYCGYGEDRRADFW
CDVVIADLHPVGWCTQNNKVLMPPDAIK
EKYTDWTEFLIRDLTGSRTAPANLLEGPLRGK
GPIDLITVGSLIELQDSQNPFQYWIVSVIENVGGRLRLRYVGLEDTESYDQWLFYLDYRL
RPVGWCQENKYRMDPPSEIY
PLKMASEWKCTLEKSLIDAAKFPLPMEVFKDHADLRSHFF
TVGMKLETVNMCEPFYISPASVTKVFNNHFFQVTIDDLRPEPSKLSMLCHADSLGILPVQ
WCLKNGVSLTPPKGYS
GQDFDWADYHKQHGAQEAPPFCFRNTSFSRGFTKNMKLEAVNPR
NPGELCVASVVSVKGRLMWLHLEGLQTPVPEVIVDVESMDIFPVGWCEANSYPLTAPHKT
V
SQKKRKIAVVQPEKQLPPTVPVKKIPHDLCLFPHLDTTGTVNGKYCCPQLFINHRCFSG
PYLNKGRIAELPQSVGPGKCVLVLKEVLSMIINAAYKPGRVLRELQLVEDPHWNFQEETL
KAKYRGKTYRAVVKIVRTSDQVANFCRRVCAKLECCPNLFSPV
LISENCPENCSIHTKTK
YTYYYGKRKKISKPPIGESNPDSGHPKPARRRKRRKSIFVQKKRRSSAVDFTAGSGEESE
EEDADAMDDDTASEETGSELRDDQTDTSSAEVPSARPRRAVTLRSGSEPVRRPPPERTRR
GRGAPAASSAEEGEKCPPTKPEGTEDTKQEEEERLVLESNPLEWTVTDVVRFIKLTDCAP
LAKIFQEQDIDGQALLLLTLPTVQECMELKLGPAIKLCHQIERVK
VAFYAQYAN
Sequence length 894
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Polycomb repressive complex  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
IMMUNE SYSTEM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 37524698
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 29669510
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 35924072
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 29775793, 32531444, 33892797, 37728516
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis Associate 37728516
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 37728516
★☆☆☆☆
Found in Text Mining only
Glioma Inhibit 32729377
★☆☆☆☆
Found in Text Mining only
Glucosephosphate Dehydrogenase Deficiency Associate 37728516
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Biliary Associate 33371893
★☆☆☆☆
Found in Text Mining only
Lymphoma Follicular Associate 19530241
★☆☆☆☆
Found in Text Mining only