Aliases for SFMBT2 Gene

Aliases for SFMBT2 Gene

  • Scm Like With Four Mbt Domains 2 2 3 5
  • Scm-Related Gene Containing Four Mbt Domains 2 2 3
  • Scm-Like With Four MBT Domains Protein 2 3 4
  • Scm-Like With 4 MBT Domains Protein 2 3 4
  • KIAA1617 4

External Ids for SFMBT2 Gene

Previous GeneCards Identifiers for SFMBT2 Gene

  • GC10M007354
  • GC10M007208
  • GC10M007244

Summaries for SFMBT2 Gene

GeneCards Summary for SFMBT2 Gene

SFMBT2 (Scm Like With Four Mbt Domains 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and histone binding. An important paralog of this gene is SFMBT1.

UniProtKB/Swiss-Prot Summary for SFMBT2 Gene

Additional gene information for SFMBT2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFMBT2 Gene

Genomics for SFMBT2 Gene

GeneHancer (GH) Regulatory Elements for SFMBT2 Gene

Promoters and enhancers for SFMBT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J007406 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 509.5 +1.4 1421 6.7 ZBTB40 CTCF SIN3A NRF1 USF1 ZIC2 POLR2A ZBTB10 ZBTB26 ZNF510 SFMBT2 ENSG00000278982 lnc-ITIH2-9 TAF3 piR-50444-034
GH10J008051 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -645.4 -645415 16.3 ZNF217 CTCF ZSCAN5C SIN3A TCF12 NCOR1 PHF8 JUND TEAD4 ZFX GATA3 KIN TAF3 SFMBT2 GATA3-AS1 NONHSAG005179.2-001 ENSG00000232638 NONHSAG005179.2-002
GH10J007480 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -72.3 -72304 7.2 SIN3A EP300 RFX1 TRIM22 POLR2A RBM25 BCL11A CREB1 ZNF316 ZNF384 lnc-ITIH2-3 SFMBT2 TAF3 KIN RNU6-535P RF00026-122 LINC02642 lnc-ITIH5-1
GH10J007252 Enhancer 1.1 Ensembl ENCODE 15.3 +159.3 159285 0.8 ZBTB5 ZBTB11 TOE1 MYC CTBP1 JUN HINFP TAF9B MXI1 HDAC3 SFMBT2 COX6CP17 SNORD129-001
GH10J007388 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.3 +22.2 22186 3.4 ZSCAN5C ZNF639 OSR2 BCL11A WT1 CREB1 ZBTB17 ZNF184 SRF OVOL3 SFMBT2 GATA3 piR-50444-034 lnc-ITIH2-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFMBT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFMBT2

Top Transcription factor binding sites by QIAGEN in the SFMBT2 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • c-Myc
  • E47
  • Hand1
  • LyF-1
  • Max1
  • Sox5
  • YY1

Genomic Locations for SFMBT2 Gene

Genomic Locations for SFMBT2 Gene
chr10:7,158,624-7,411,486
(GRCh38/hg38)
Size:
252,863 bases
Orientation:
Minus strand
chr10:7,200,586-7,453,450
(GRCh37/hg19)
Size:
252,865 bases
Orientation:
Minus strand

Genomic View for SFMBT2 Gene

Genes around SFMBT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFMBT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFMBT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFMBT2 Gene

Proteins for SFMBT2 Gene

  • Protein details for SFMBT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VUG0-SMBT2_HUMAN
    Recommended name:
    Scm-like with four MBT domains protein 2
    Protein Accession:
    Q5VUG0
    Secondary Accessions:
    • A7MD09
    • Q9HCF5

    Protein attributes for SFMBT2 Gene

    Size:
    894 amino acids
    Molecular mass:
    100563 Da
    Quaternary structure:
    • Interacts with YY1. Interacts with methylated histones H3K9me2 and H4K20me2, but not with H3K4me2, nor H3K9Ac.
    SequenceCaution:
    • Sequence=BAB13443.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SFMBT2 Gene

neXtProt entry for SFMBT2 Gene

Post-translational modifications for SFMBT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SFMBT2 Gene

Domains & Families for SFMBT2 Gene

Gene Families for SFMBT2 Gene

Protein Domains for SFMBT2 Gene

Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SFMBT2 Gene

GenScript: Design optimal peptide antigens:
  • Scm-like with four MBT domains protein 2 (SMBT2_HUMAN)
genes like me logo Genes that share domains with SFMBT2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SFMBT2 Gene

Function for SFMBT2 Gene

Molecular function for SFMBT2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of HOXB13 gene.

Phenotypes From GWAS Catalog for SFMBT2 Gene

Gene Ontology (GO) - Molecular Function for SFMBT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IEA --
GO:0005515 protein binding IPI,IEA 23385818
GO:0042393 histone binding IDA 23385818
genes like me logo Genes that share ontologies with SFMBT2: view
genes like me logo Genes that share phenotypes with SFMBT2: view

miRNA for SFMBT2 Gene

miRTarBase miRNAs that target SFMBT2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFMBT2 Gene

Localization for SFMBT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFMBT2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFMBT2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SFMBT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 23385818
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0016235 aggresome IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with SFMBT2: view

Pathways & Interactions for SFMBT2 Gene

PathCards logo

SuperPathways for SFMBT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SFMBT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010629 negative regulation of gene expression IDA 23385818
GO:1903507 negative regulation of nucleic acid-templated transcription IEA --
genes like me logo Genes that share ontologies with SFMBT2: view

No data available for Pathways by source and SIGNOR curated interactions for SFMBT2 Gene

Drugs & Compounds for SFMBT2 Gene

No Compound Related Data Available

Transcripts for SFMBT2 Gene

mRNA/cDNA for SFMBT2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFMBT2 Gene

No ASD Table

Relevant External Links for SFMBT2 Gene

GeneLoc Exon Structure for
SFMBT2

Expression for SFMBT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFMBT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SFMBT2 Gene

This gene is overexpressed in Heart (57.0) and Synovial fluid (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SFMBT2 Gene



Protein tissue co-expression partners for SFMBT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFMBT2

SOURCE GeneReport for Unigene cluster for SFMBT2 Gene:

Hs.407983

Evidence on tissue expression from TISSUES for SFMBT2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with SFMBT2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFMBT2 Gene

Orthologs for SFMBT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SFMBT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFMBT2 31 30
  • 98.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SFMBT2 31 30
  • 88.14 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFMBT2 31
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SFMBT2 31
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SFMBT2 31 30
  • 85.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfmbt2 30
  • 81.74 (n)
mouse
(Mus musculus)
Mammalia Sfmbt2 17 31 30
  • 79.46 (n)
chicken
(Gallus gallus)
Aves SFMBT2 31 30
  • 78.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFMBT2 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfmbt2 30
  • 71.61 (n)
zebrafish
(Danio rerio)
Actinopterygii sfmbt2 31 30
  • 62.45 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mbtr-1 31
  • 19 (a)
ManyToMany
lin-61 31
  • 17 (a)
ManyToMany
Species where no ortholog for SFMBT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SFMBT2 Gene

ENSEMBL:
Gene Tree for SFMBT2 (if available)
TreeFam:
Gene Tree for SFMBT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFMBT2: view image

Paralogs for SFMBT2 Gene

(8) SIMAP similar genes for SFMBT2 Gene using alignment to 3 proteins:

  • SMBT2_HUMAN
  • Q5T980_HUMAN
  • Q5T981_HUMAN
genes like me logo Genes that share paralogs with SFMBT2: view

Variants for SFMBT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFMBT2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
712041 Benign: not provided 7,248,643(-) C/T MISSENSE_VARIANT
777840 Benign: not provided 7,202,472(-) G/A INTRON_VARIANT
rs3740212 - p.Pro675Arg

Additional dbSNP identifiers (rs#s) for SFMBT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SFMBT2 Gene

Variant ID Type Subtype PubMed ID
esv1259186 CNV deletion 17803354
esv1635316 CNV insertion 17803354
esv2234111 CNV deletion 18987734
esv2669338 CNV deletion 23128226
esv2732217 CNV deletion 23290073
esv2732228 CNV deletion 23290073
esv2732239 CNV deletion 23290073
esv2732251 CNV deletion 23290073
esv2759732 CNV loss 17122850
esv3545854 CNV deletion 23714750
esv3545857 CNV deletion 23714750
esv3622268 CNV loss 21293372
nsv1038023 CNV gain 25217958
nsv1041863 CNV gain 25217958
nsv1047356 CNV gain 25217958
nsv1069013 CNV deletion 25765185
nsv1133968 CNV deletion 24896259
nsv1137872 CNV deletion 24896259
nsv478772 CNV novel sequence insertion 20440878
nsv517524 CNV loss 19592680
nsv518530 CNV loss 19592680
nsv5731 CNV insertion 18451855
nsv7198 OTHER inversion 18451855
nsv825241 CNV loss 20364138
nsv831777 CNV gain 17160897
nsv831778 CNV loss 17160897
nsv831779 CNV loss 17160897
nsv951245 CNV deletion 24416366

Variation tolerance for SFMBT2 Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.19; 69.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFMBT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFMBT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFMBT2 Gene

Disorders for SFMBT2 Gene

Additional Disease Information for SFMBT2

No disorders were found for SFMBT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFMBT2 Gene

Publications for SFMBT2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  2. Regulation of DU145 prostate cancer cell growth by Scm-like with four mbt domains 2. (PMID: 23385818) Lee K … Ju BG (Journal of biosciences 2013) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. SFMBT2 positively regulates SOX9 and chondrocyte proliferation. (PMID: 30272322) Hussain S … Lu S (International journal of molecular medicine 2018) 3 54

Products for SFMBT2 Gene

Sources for SFMBT2 Gene