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SFMBT2 Scm like with four mbt domains 2 [ Homo sapiens (human) ]

Gene ID: 57713, updated on 4-May-2020

Summary

Official Symbol
SFMBT2provided by HGNC
Official Full Name
Scm like with four mbt domains 2provided by HGNC
Primary source
HGNC:HGNC:20256
See related
Ensembl:ENSG00000198879 MIM:615392
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in thyroid (RPKM 4.8), ovary (RPKM 4.5) and 24 other tissues See more
Orthologs

Genomic context

See SFMBT2 in Genome Data Viewer
Location:
10p14
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (7158624..7411486, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (7200586..7453448, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376387 Neighboring gene long intergenic non-protein coding RNA 2665 Neighboring gene Sharpr-MPRA regulatory region 5095 Neighboring gene small nucleolar RNA, C/D box 129 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 17 Neighboring gene long intergenic non-protein coding RNA 2642 Neighboring gene RNA, U6 small nuclear 535, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
aggresome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
scm-like with four MBT domains protein 2
Names
Scm-related gene containing four mbt domains 2
scm-like with 4 MBT domains protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001018039.1NP_001018049.1  scm-like with four MBT domains protein 2

    See identical proteins and their annotated locations for NP_001018049.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AB046837, AL138771, AL590095
    Consensus CDS
    CCDS31138.1
    UniProtKB/Swiss-Prot
    Q5VUG0
    Related
    ENSP00000355109.4, ENST00000361972.8
    Conserved Domains (4) summary
    cd09581
    Location:810894
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:821885
    SAM; Sterile alpha motif
    smart00561
    Location:48144
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:528643
    DUF3588; Protein of unknown function (DUF3588)
  2. NM_001029880.2NP_001025051.1  scm-like with four MBT domains protein 2

    See identical proteins and their annotated locations for NP_001025051.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AB046837, AL138771, AL590095, DA152101
    Consensus CDS
    CCDS31138.1
    UniProtKB/Swiss-Prot
    Q5VUG0
    Related
    ENSP00000380353.1, ENST00000397167.5
    Conserved Domains (4) summary
    cd09581
    Location:810894
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:821885
    SAM; Sterile alpha motif
    smart00561
    Location:48144
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:528643
    DUF3588; Protein of unknown function (DUF3588)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    7158624..7411486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519611.1XP_011517913.1  scm-like with four MBT domains protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011517913.1

    UniProtKB/Swiss-Prot
    Q5VUG0
    Related
    ENSP00000501299.1, ENST00000673876.1
    Conserved Domains (4) summary
    cd09581
    Location:810894
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:821885
    SAM; Sterile alpha motif
    smart00561
    Location:48144
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:528643
    DUF3588; Protein of unknown function (DUF3588)
  2. XM_005252551.2XP_005252608.1  scm-like with four MBT domains protein 2 isoform X3

    Conserved Domains (4) summary
    cd09581
    Location:558642
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:569633
    SAM; Sterile alpha motif
    smart00561
    Location:132225
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:276391
    DUF3588; Protein of unknown function (DUF3588)
  3. XM_017016466.1XP_016871955.1  scm-like with four MBT domains protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5VUG0
    Conserved Domains (4) summary
    cd09581
    Location:810894
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:821885
    SAM; Sterile alpha motif
    smart00561
    Location:48144
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:528643
    DUF3588; Protein of unknown function (DUF3588)
  4. XM_006717490.2XP_006717553.1  scm-like with four MBT domains protein 2 isoform X2

    Conserved Domains (4) summary
    cd09581
    Location:641725
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:652716
    SAM; Sterile alpha motif
    smart00561
    Location:215308
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:359474
    DUF3588; Protein of unknown function (DUF3588)
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