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Aliases for SCML2 Gene

Aliases for SCML2 Gene

  • Scm Polycomb Group Protein Like 2 2 3 5
  • Sex Comb On Midleg (Drosophila)-Like 2 2
  • Sex Comb On Midleg Like 2 (Drosophila) 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 (Scm Polycomb Group Protein Like 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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).

Additional gene information for SCML2 Gene

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

Genomics for SCML2 Gene

GeneHancer (GH) Regulatory Elements for SCML2 Gene

Promoters and enhancers for SCML2 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
GH0XI018353 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.1 69 2.1 ARNT SIN3A FEZF1 YY1 ZNF121 GLIS2 SMARCB1 ZNF592 GMEB1 SMARCA4 SCML2 TMSB10P2
GH0XI018347 Promoter 0.6 EPDnew 550.4 +7.0 6950 0.1 ZNF384 SCML2 TMSB10P2
GH0XI017593 Enhancer 0.7 Ensembl ENCODE 4.1 +759.2 759195 3.4 SP1 BCL11A JUN IKZF1 FOXA1 SCML1 SCML2 NHS-AS1 GC0XM017645 NHS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCML2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCML2 gene promoter:

Genomic Locations for SCML2 Gene

Genomic Locations for SCML2 Gene
chrX:18,239,313-18,354,727
(GRCh38/hg38)
Size:
115,415 bases
Orientation:
Minus strand
chrX:18,257,433-18,372,847
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for SCML2 Gene

No data available for DME Specific Peptides for SCML2 Gene

Domains & Families for SCML2 Gene

Gene Families for SCML2 Gene

Protein Domains for SCML2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQR0

UniProtKB/Swiss-Prot:

SCML2_HUMAN :
  • Belongs to the SCM family.
Family:
  • Belongs to the SCM family.
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 DNA binding transcription factor activity TAS 10331946
GO:0005515 protein binding IPI 24358021
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 SCML2 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

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

Drugs & Compounds for SCML2 Gene

No Compound Related Data Available

Transcripts for SCML2 Gene

Unigene Clusters for SCML2 Gene

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

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for SCML2 Gene

  • Liver(4)
genes like me logo Genes that share expression patterns with SCML2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SCML2 Gene

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 33 34
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia SCML2 33 34
  • 85.73 (n)
cow
(Bos Taurus)
Mammalia SCML2 33 34
  • 83.1 (n)
rat
(Rattus norvegicus)
Mammalia RGD1564289 33
  • 75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCML2 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCML2 34
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scml2 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCML2 33 34
  • 70.58 (n)
lizard
(Anolis carolinensis)
Reptilia SCML2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scml2 33
  • 62.8 (n)
Str.20296 33
zebrafish
(Danio rerio)
Actinopterygii scml2 33
  • 58.43 (n)
SCML2 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scm 35 34
  • 62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6357 34
  • 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 Variation AA Info Type
rs1000013675 -- 18,247,530(-) A/G intron_variant
rs1000075187 -- 18,298,441(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000083478 -- 18,247,138(-) G/A intron_variant
rs1000144884 -- 18,310,326(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000170210 -- 18,282,291(-) C/T 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)

Additional Variant Information 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

Additional Disease Information for 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 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Crystal structure of the malignant brain tumor (MBT) repeats in Sex Comb on Midleg-like 2 (SCML2). (PMID: 12952983) Sathyamurthy A … Bycroft M (The Journal of biological chemistry 2003) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for SCML2 Gene

Sources for SCML2 Gene

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