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Aliases for CCM2L Gene

Aliases for CCM2L Gene

  • 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 Symbols for CCM2L Gene

  • C20orf160

Summaries for CCM2L Gene

GeneCards Summary for CCM2L Gene

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

No data available for Entrez Gene 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

Genomic Location for CCM2L Gene

Start:
32,010,397 bp from pter
End:
32,032,181 bp from pter
Size:
21,785 bases
Orientation:
Plus strand

Genomic View for CCM2L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCM2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCM2L Gene

No data available for Regulatory Elements 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

Proteomics data for CCM2L Gene at MOPED

Post-translational modifications for CCM2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCM2L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCM2L Gene

Domains for CCM2L Gene

Protein Domains for CCM2L Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CCM2L_HUMAN
Family:
  • Belongs to the CCM2 family.:
    • Q9NUG4
genes like me logo Genes that share domains with CCM2L: view

No data available for Gene Families for CCM2L Gene

Function for CCM2L Gene

Gene Ontology (GO) - Molecular Function for CCM2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CCM2L: view
genes like me logo Genes that share phenotypes with CCM2L: view

miRNA for CCM2L Gene

miRTarBase miRNAs that target CCM2L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CCM2L Gene

Localization for CCM2L Gene

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

Pathways for CCM2L Gene

SuperPathways for CCM2L Gene

No Data Available

Interacting Proteins for CCM2L Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262659%0d%0a9606.ENSP00000379098%0d%0a9606.ENSP00000339007%0d%0a
Selected Interacting proteins: ENSP00000262659 Q9NUG4-CCM2L_HUMAN for CCM2L Gene via STRING I2D

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 for CCM2L Gene

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:

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 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 (16.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CCM2L Gene

SOURCE GeneReport for Unigene cluster for CCM2L Gene Hs.382151

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

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 36
  • 99.41 (n)
  • 99.74 (a)
CCM2L 37
  • 61 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCM2L 36
  • 91.09 (n)
  • 93.95 (a)
CCM2L 37
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCM2L 36
  • 90.98 (n)
  • 91.69 (a)
CCM2L 37
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccm2l 36
  • 86.48 (n)
  • 86.95 (a)
Ccm2l 16
Ccm2l 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCM2L 37
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCM2L 37
  • 3 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1305202 36
  • 86.89 (n)
  • 91.14 (a)
chicken
(Gallus gallus)
Aves C20ORF160 36
  • 77.58 (n)
  • 80.99 (a)
CCM2L 37
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCM2L 37
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccm2l 36
  • 69.53 (n)
  • 71.89 (a)
ccm2l 37
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 24 (a)
OneToMany
Species with no ortholog for CCM2L:
  • 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

Selected 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 MAF
rs909867 -- 32,018,801(+) GGGGA(A/C)CCGCC intron-variant
rs5841095 -- 32,014,276(+) TTTTT(-/TT)GAGAC intron-variant
rs6058512 -- 32,023,383(+) TGTCC(A/C)TATAT intron-variant
rs6061095 -- 32,012,864(+) AAGAA(C/T)GTGAG intron-variant
rs6061097 -- 32,014,663(+) aagaa(A/G)gtcgt intron-variant

Relevant External Links for CCM2L Gene

HapMap Linkage Disequilibrium report
CCM2L

No data available for Structural Variations from Database of Genomic Variants (DGV) for CCM2L Gene

Disorders for CCM2L Gene

(1) MalaCards Diseases for CCM2L Gene

Search for CCM2L Gene in MalaCards »
genes like me logo Genes that share disorders with CCM2L: view

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

Publications for CCM2L Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for CCM2L Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CCM2L
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for CCM2L
    • Block miRNA regulation of CCM2L using miScript Target Protectors

    Sources for CCM2L Gene

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