Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57713
Gene name Gene Name - the full gene name approved by the HGNC.
Scm like with four mbt domains 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SFMBT2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p14
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615392 20256 ENSG00000198879
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in estrogen receptor positive breast cancer N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Monoclonal Gammapathies Monoclonal gammopathy of undetermined significance N/A N/A GWAS
Myasthenia Gravis Myasthenia gravis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 37524698
Carcinoma Hepatocellular Associate 29669510
Carcinoma Non Small Cell Lung Associate 35924072
Colorectal Neoplasms Associate 29775793, 32531444, 33892797, 37728516
Colorectal Neoplasms Hereditary Nonpolyposis Associate 37728516
Endometrial Neoplasms Associate 37728516
Glioma Inhibit 32729377
Glucosephosphate Dehydrogenase Deficiency Associate 37728516
Liver Cirrhosis Biliary Associate 33371893
Lymphoma Follicular Associate 19530241