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Aliases for CCM2L Gene

Aliases for CCM2L Gene

  • CCM2 Like Scaffolding Protein 2 3 5
  • Cerebral Cavernous Malformation 2-Like 2 3
  • C20orf160 3 4
  • CCM2-Like 3 4
  • Cerebral Cavernous Malformations 2 Protein-Like 3
  • Chromosome 20 Open Reading Frame 160 2
  • DJ310O13.5 3

External Ids for CCM2L Gene

Previous HGNC Symbols for CCM2L Gene

  • C20orf160

Previous GeneCards Identifiers for CCM2L Gene

  • GC20P030601

Summaries for CCM2L Gene

GeneCards Summary for CCM2L Gene

CCM2L (CCM2 Like Scaffolding Protein) is a Protein Coding gene. Diseases associated with CCM2L include Cavernous Malformation and Cerebral Cavernous Malformations-2. An important paralog of this gene is CCM2.

Additional gene information for CCM2L Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCM2L Gene

Genomics for CCM2L Gene

Regulatory Elements for CCM2L Gene

Enhancers for CCM2L 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
GH20H032039 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16 +30.2 30212 1 HDGF PKNOX1 SIN3A FEZF1 NFXL1 ELK1 SCRT2 ZNF143 RCOR1 ETV6 CCM2L TM9SF4 RNA5SP481 MYLK2 HCK PLAGL2 NOL4L GC20P032051 ENSG00000226239
GH20H032965 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.1 +962.8 962785 15 HDGF PKNOX1 MLX ARID4B ZNF143 ZNF207 RUNX3 SP5 MXD4 NFYC CBFA2T2 TM9SF4 MAPRE1 ENSG00000260257 CCM2L ZNF341 CDK5RAP1 PIR55937 EFCAB8
GH20H031917 0.9 ENCODE 10.5 -92.1 -92084 0 HDAC1 PKNOX1 ATF1 ARNT TCF12 GATA2 EGR1 ATF7 NCOA1 ELF1 DUSP15 TTLL9 XKR7 MYLK2 RNA5SP481 CCM2L PIR40015 PIR41147
GH20H031972 0.8 ENCODE dbSUPER 11.7 -37.7 -37715 1 GATA3 ZKSCAN8 REST EZH2 XKR7 RNA5SP481 CCM2L RNU1-94P MYLK2 RNA5SP482 HCK ENSG00000278012 GC20P031999
GH20H031974 0.8 ENCODE dbSUPER 11.5 -35.2 -35223 1 ZFHX2 POLR2A ADNP ZMYM3 CTBP2 REST EGR2 XKR7 RNA5SP481 CCM2L RNU1-94P MYLK2 TM9SF4 TTLL9 ENSG00000278012 GC20P031999
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCM2L on UCSC Golden Path with GeneCards custom track

Genomic Location for CCM2L Gene

Chromosome:
20
Start:
32,010,379 bp from pter
End:
32,032,182 bp from pter
Size:
21,804 bases
Orientation:
Plus strand

Genomic View for CCM2L Gene

Genes around CCM2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCM2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCM2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCM2L Gene

Proteins for CCM2L Gene

  • Protein details for CCM2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUG4-CCM2L_HUMAN
    Recommended name:
    Cerebral cavernous malformations 2 protein-like
    Protein Accession:
    Q9NUG4
    Secondary Accessions:
    • Q5JYR9
    • Q8N5F1
    • Q8N6G8
    • Q96MD5

    Protein attributes for CCM2L Gene

    Size:
    571 amino acids
    Molecular mass:
    62179 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32455.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCM2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCM2L Gene

Post-translational modifications for CCM2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCM2L Gene

No data available for DME Specific Peptides for CCM2L Gene

Domains & Families for CCM2L Gene

Gene Families for CCM2L Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CCM2L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCM2L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NUG4

UniProtKB/Swiss-Prot:

CCM2L_HUMAN :
  • Belongs to the CCM2 family.
Family:
  • Belongs to the CCM2 family.
genes like me logo Genes that share domains with CCM2L: view

Function for CCM2L Gene

Phenotypes From GWAS Catalog for CCM2L Gene

Gene Ontology (GO) - Molecular Function for CCM2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CCM2L: view
genes like me logo Genes that share phenotypes with CCM2L: view

Animal Models for CCM2L Gene

MGI Knock Outs for CCM2L:

Animal Model Products

CRISPR Products

miRNA for CCM2L Gene

miRTarBase miRNAs that target CCM2L

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCM2L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCM2L Gene

Localization for CCM2L 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 CCM2L gene
Compartment Confidence
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCM2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CCM2L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCM2L Gene

Pathways & Interactions for CCM2L Gene

SuperPathways for CCM2L Gene

No Data Available

Interacting Proteins for CCM2L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262659%0d%0a9606.ENSP00000379098%0d%0a
Selected Interacting proteins: ENSP00000262659 Q9NUG4-CCM2L_HUMAN for CCM2L Gene via STRING IID

Gene Ontology (GO) - Biological Process for CCM2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003209 cardiac atrium morphogenesis IEA --
GO:0003222 ventricular trabecula myocardium morphogenesis IEA --
GO:0008150 biological_process ND --
GO:0032091 negative regulation of protein binding IEA --
GO:0034111 negative regulation of homotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with CCM2L: view

No data available for Pathways by source and SIGNOR curated interactions for CCM2L Gene

Drugs & Compounds for CCM2L Gene

No Compound Related Data Available

Transcripts for CCM2L Gene

mRNA/cDNA for CCM2L Gene

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCM2L Gene

Cerebral cavernous malformation 2-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCM2L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCM2L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d
SP1: - - - - - - - -
SP2: - - -
SP3: -
SP4: -
SP5:

Relevant External Links for CCM2L Gene

GeneLoc Exon Structure for
CCM2L
ECgene alternative splicing isoforms for
CCM2L

Expression for CCM2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCM2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCM2L Gene

This gene is overexpressed in Spleen (x16.0).

Protein differential expression in normal tissues from HIPED for CCM2L Gene

This gene is overexpressed in Heart (38.4), Monocytes (23.8), and Adipocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCM2L Gene



Protein tissue co-expression partners for CCM2L Gene

NURSA nuclear receptor signaling pathways regulating expression of CCM2L Gene:

CCM2L

SOURCE GeneReport for Unigene cluster for CCM2L Gene:

Hs.382151

Evidence on tissue expression from TISSUES for CCM2L Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with CCM2L: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCM2L Gene

Orthologs for CCM2L Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCM2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCM2L 33 34
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia CCM2L 33 34
  • 91.09 (n)
dog
(Canis familiaris)
Mammalia CCM2L 33 34
  • 90.98 (n)
rat
(Rattus norvegicus)
Mammalia RGD1305202 33
  • 86.89 (n)
mouse
(Mus musculus)
Mammalia Ccm2l 33 16 34
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia CCM2L 34
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCM2L 34
  • 3 (a)
OneToOne
chicken
(Gallus gallus)
Aves C20ORF160 33
  • 77.58 (n)
CCM2L 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCM2L 34
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccm2l 33 34
  • 69.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToMany
Species where no ortholog for CCM2L 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCM2L Gene

ENSEMBL:
Gene Tree for CCM2L (if available)
TreeFam:
Gene Tree for CCM2L (if available)

Paralogs for CCM2L Gene

Paralogs for CCM2L Gene

(1) SIMAP similar genes for CCM2L Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CCM2L: view

Variants for CCM2L Gene

Sequence variations from dbSNP and Humsavar for CCM2L Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000153060 -- 32,032,587(+) CTTCC(A/G)TGGCC downstream-variant-500B
rs1000276220 -- 32,018,841(+) CGGTG(A/G)AACCC intron-variant
rs1000352604 -- 32,028,739(+) AGAGG(A/G)ACCAG intron-variant
rs1000543428 -- 32,031,097(+) CAGCT(G/T)CGGCC downstream-variant-500B, reference, missense, utr-variant-3-prime
rs1000609883 -- 32,032,272(+) CTATT(C/G)AGAAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CCM2L Gene

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
nsv1126593 CNV deletion 24896259
nsv833952 CNV gain 17160897
nsv833953 CNV loss 17160897

Variation tolerance for CCM2L Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCM2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCM2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCM2L Gene

Disorders for CCM2L Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCM2L Gene - From: GeneCards

Disorder Aliases PubMed IDs
cavernous malformation
cerebral cavernous malformations-2
  • cavernous angiomatous malformations
- elite association - COSMIC cancer census association via MalaCards
Search CCM2L in MalaCards View complete list of genes associated with diseases

Relevant External Links for CCM2L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCM2L
genes like me logo Genes that share disorders with CCM2L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCM2L Gene

Publications for CCM2L Gene

  1. Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. (PMID: 22898778) Zheng X … Kahn ML (Developmental cell 2012) 2 3 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for CCM2L Gene

Sources for CCM2L Gene

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