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SCML2 sex comb on midleg-like 2 (Drosophila) [ Homo sapiens (human) ]

Gene ID: 10389, updated on 8-Feb-2015
Official Symbol
SCML2provided by HGNC
Official Full Name
sex comb on midleg-like 2 (Drosophila)provided by HGNC
Primary source
HGNC:HGNC:10581
See related
Ensembl:ENSG00000102098; HPRD:02195; MIM:300208; Vega:OTTHUMG00000021212
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]
Orthologs
See SCML2 in MapViewer
Location:
Xp22
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (18239313..18354724, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18257433..18372844, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MDM4, p53 regulator pseudogene Neighboring gene BEN domain containing 2 Neighboring gene thymosin beta 10 pseudogene 2 Neighboring gene cyclin-dependent kinase-like 5 Neighboring gene gap junction protein, alpha 6, pseudogene Neighboring gene retinoschisin 1

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
sex comb on midleg-like protein 2
Names
sex comb on midleg-like protein 2

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.

Genomic

  1. NG_021431.1 RefSeqGene

    Range
    5001..120412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006089.2NP_006080.1  sex comb on midleg-like protein 2

    See proteins identical to NP_006080.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    BC040497, BC064617
    Consensus CDS
    CCDS14185.1
    UniProtKB/Swiss-Prot
    Q9UQR0
    Related
    ENSP00000251900, OTTHUMP00000023000, ENST00000251900, OTTHUMT00000055941
    Conserved Domains (4) summary
    cd09578
    Location:625696
    SAM_Scm; SAM domain of Scm proteins of Polycomb group
    smart00454
    Location:628696
    SAM; Sterile alpha motif
    smart00561
    Location:142240
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:353468
    DUF3588; Protein of unknown function (DUF3588)

RNA

  1. NR_033717.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC040497, BC051913

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38 Primary Assembly

    Range
    18239313..18354724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724458.1XP_006724521.1  

    Conserved Domains (2) summary
    smart00561
    Location:142240
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:353468
    DUF3588; Protein of unknown function (DUF3588)
  2. XM_006724457.1XP_006724520.1  

    Conserved Domains (2) summary
    smart00561
    Location:142240
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:353468
    DUF3588; Protein of unknown function (DUF3588)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    18287820..18403223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    16015093..16108084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)