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Aliases for SCML2 Gene

Aliases for SCML2 Gene

  • Sex Comb On Midleg-Like 2 (Drosophila) 2 3 5
  • Sex Comb On Midleg (Drosophila)-Like 2 2

External Ids for SCML2 Gene

Previous GeneCards Identifiers for SCML2 Gene

  • GC0XM017801
  • GC0XM016923
  • GC0XM017459
  • GC0XM017618
  • GC0XM018017
  • GC0XM016015

Summaries for SCML2 Gene

Entrez Gene Summary for SCML2 Gene

  • 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]

GeneCards Summary for SCML2 Gene

SCML2 (Sex Comb On Midleg-Like 2 (Drosophila)) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is SCMH1.

UniProtKB/Swiss-Prot for SCML2 Gene

  • Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCML2 Gene

Genomics for SCML2 Gene

Regulatory Elements for SCML2 Gene

Enhancers for SCML2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF017593 0.7 Ensembl ENCODE 4.1 +759.2 759195 3.4 MTA2 JUN HLF FEZF1 NFIL3 OSR2 ZNF157 PATZ1 CEBPA PRDM10 SCML1 SCML2 NHS-AS1 GC0XM017645
GH0XF018353 0.2 ENCODE 0.8 +0.0 33 2.0 TBP CBX3 CREB3L1 FEZF1 RARA CHAMP1 YY1 ZNF121 GLIS2 SCRT2 SCML2 TMSB10P2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCML2 on UCSC Golden Path with GeneCards custom track

Promoters for SCML2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001488713 226 2199 TBP CBX3 CREB3L1 FEZF1 RARA CHAMP1 YY1 ZNF121 GLIS2 SCRT2

Genomic Location for SCML2 Gene

Chromosome:
X
Start:
18,239,313 bp from pter
End:
18,354,727 bp from pter
Size:
115,415 bases
Orientation:
Minus strand

Genomic View for SCML2 Gene

Genes around SCML2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCML2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCML2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCML2 Gene

Proteins for SCML2 Gene

  • Protein details for SCML2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQR0-SCML2_HUMAN
    Recommended name:
    Sex comb on midleg-like protein 2
    Protein Accession:
    Q9UQR0
    Secondary Accessions:
    • Q5JXE6
    • Q86U98
    • Q8IWD0
    • Q8NDP2
    • Q9UGC5

    Protein attributes for SCML2 Gene

    Size:
    700 amino acids
    Molecular mass:
    77257 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH51913.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SCML2 Gene

    Alternative splice isoforms for SCML2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCML2 Gene

Post-translational modifications for SCML2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SCML2 Gene

No data available for DME Specific Peptides for SCML2 Gene

Domains & Families for SCML2 Gene

Protein Domains for SCML2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQR0

UniProtKB/Swiss-Prot:

SCML2_HUMAN :
  • Contains 1 SAM (sterile alpha motif) domain.
  • Belongs to the SCM family.
  • Contains 2 MBT repeats.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the SCM family.
Similarity:
  • Contains 2 MBT repeats.
genes like me logo Genes that share domains with SCML2: view

Function for SCML2 Gene

Molecular function for SCML2 Gene

GENATLAS Biochemistry:
Drosophila sex comb on midleg-like 2 homolog,member of the polycomb group (PcG),involved in transcriptional repression of HOX genes,clustered with SCML1
UniProtKB/Swiss-Prot Function:
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity).

Gene Ontology (GO) - Molecular Function for SCML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 10331946
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 10331946
genes like me logo Genes that share ontologies with SCML2: view
genes like me logo Genes that share phenotypes with SCML2: view

Animal Model Products

miRNA for SCML2 Gene

miRTarBase miRNAs that target SCML2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCML2 Gene

Localization for SCML2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCML2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCML2 Gene COMPARTMENTS Subcellular localization image for SCML2 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SCML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21282530
GO:0031519 PcG protein complex IDA 21282530
genes like me logo Genes that share ontologies with SCML2: view

Pathways & Interactions for SCML2 Gene

SuperPathways for SCML2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SCML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 10331946
genes like me logo Genes that share ontologies with SCML2: view

No data available for Pathways by source and SIGNOR curated interactions for SCML2 Gene

Transcripts for SCML2 Gene

Unigene Clusters for SCML2 Gene

Sex comb on midleg-like 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCML2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c · 12d ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b · 15c ^ 16 ^
SP1:
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: -
SP7: -
SP8:
SP9:

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SCML2 Gene

GeneLoc Exon Structure for
SCML2
ECgene alternative splicing isoforms for
SCML2

Expression for SCML2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCML2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCML2 Gene

This gene is overexpressed in Testis (x4.7).

Protein differential expression in normal tissues from HIPED for SCML2 Gene

This gene is overexpressed in Testis (23.7), Bone marrow mesenchymal stem cell (17.4), Fetal ovary (14.8), and Ovary (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCML2 Gene



Protein tissue co-expression partners for SCML2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SCML2 Gene:

SCML2

SOURCE GeneReport for Unigene cluster for SCML2 Gene:

Hs.495774

mRNA Expression by UniProt/SwissProt for SCML2 Gene:

Q9UQR0-SCML2_HUMAN
Tissue specificity: Highly expressed in placenta, thymus and testis. Detected at lower levels in brain, liver, skeletal muscle, pancreas and ovary.
genes like me logo Genes that share expression patterns with SCML2: view

Primer Products

Orthologs for SCML2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCML2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCML2 34 35
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia SCML2 34 35
  • 85.73 (n)
cow
(Bos Taurus)
Mammalia SCML2 34 35
  • 83.1 (n)
rat
(Rattus norvegicus)
Mammalia RGD1564289 34
  • 75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCML2 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCML2 35
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scml2 35
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCML2 34 35
  • 70.58 (n)
lizard
(Anolis carolinensis)
Reptilia SCML2 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scml2 34
  • 62.8 (n)
Str.20296 34
zebrafish
(Danio rerio)
Actinopterygii scml2 34
  • 58.43 (n)
SCML2 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scm 36 35
  • 62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6357 35
  • 30 (a)
OneToMany
Species where no ortholog for SCML2 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for SCML2 Gene

ENSEMBL:
Gene Tree for SCML2 (if available)
TreeFam:
Gene Tree for SCML2 (if available)

Paralogs for SCML2 Gene

Paralogs for SCML2 Gene

(2) SIMAP similar genes for SCML2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SCML2 Gene

genes like me logo Genes that share paralogs with SCML2: view

Variants for SCML2 Gene

Sequence variations from dbSNP and Humsavar for SCML2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1010821 -- 18,261,114(-) AAAAA(A/C)TGTGG intron-variant
rs10521679 -- 18,242,206(+) TCATC(A/G)TATCT intron-variant
rs1074394 -- 18,297,901(+) CTACT(C/T)AGAAG intron-variant
rs111243177 -- 18,311,791(+) GTTTG(-/TTTTGT)TTTTG intron-variant
rs111283450 -- 18,292,270(+) ACTTG(A/T)CAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCML2 Gene

Variant ID Type Subtype PubMed ID
dgv2231e212 CNV gain 25503493
esv24903 CNV loss 19812545
esv2663102 CNV deletion 23128226
esv3330943 CNV insertion 20981092
nsv1075309 CNV deletion 25765185
nsv6819 CNV insertion 18451855

Variation tolerance for SCML2 Gene

Residual Variation Intolerance Score: 9.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCML2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCML2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCML2 Gene

Disorders for SCML2 Gene

Relevant External Links for SCML2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCML2

No disorders were found for SCML2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SCML2 Gene

Publications for SCML2 Gene

  1. Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster on Xp22. (PMID: 10331946) Montini E. … Franco B. (Genomics 1999) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Crystal structure of the malignant brain tumor (MBT) repeats in sex comb on midleg-like 2 (SCML2). (PMID: 12952983) Sathyamurthy A. … Bycroft M. (J. Biol. Chem. 2003) 3 4 64
  4. USP7 cooperates with SCML2 to regulate the activity of PRC1. (PMID: 25605328) Lecona E. … Reinberg D. (Mol. Cell. Biol. 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for SCML2 Gene

Sources for SCML2 Gene

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