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Aliases for CSMD2 Gene

Aliases for CSMD2 Gene

  • CUB And Sushi Multiple Domains 2 2 3
  • CUB And Sushi Multiple Domains Protein 2 3 4
  • KIAA1884 4 6
  • CUB And Sushi Domain-Containing Protein 2 3
  • CUB And Sushi (SCR Repeat) Domain 3
  • DJ1007G16.1 3
  • DJ1007G16.2 3
  • DJ947L8.1 3

External Ids for CSMD2 Gene

Previous GeneCards Identifiers for CSMD2 Gene

  • GC00U902644
  • GC01M033406
  • GC01M033482
  • GC01M033648
  • GC01M033752
  • GC01M033979
  • GC01M032096

Summaries for CSMD2 Gene

GeneCards Summary for CSMD2 Gene

CSMD2 (CUB And Sushi Multiple Domains 2) is a Protein Coding gene. Diseases associated with CSMD2 include benign adult familial myoclonic epilepsy and intermediate charcot-marie-tooth neuropathy. An important paralog of this gene is CSMD3.

Gene Wiki entry for CSMD2 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSMD2 Gene

Genomics for CSMD2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CSMD2 Gene

Start:
33,513,999 bp from pter
End:
34,165,842 bp from pter
Size:
651,844 bases
Orientation:
Minus strand

Genomic View for CSMD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSMD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSMD2 Gene

No data available for Regulatory Elements for CSMD2 Gene

Proteins for CSMD2 Gene

  • Protein details for CSMD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z408-CSMD2_HUMAN
    Recommended name:
    CUB and sushi domain-containing protein 2
    Protein Accession:
    Q7Z408
    Secondary Accessions:
    • B1AM50
    • E7EUA6
    • Q53TY4
    • Q5VT59
    • Q8N963
    • Q96Q03
    • Q9H4V7
    • Q9H4V8
    • Q9H4V9
    • Q9H4W0
    • Q9H4W1
    • Q9H4W2
    • Q9H4W3
    • Q9H4W4
    • Q9HCY5
    • Q9HCY6
    • Q9HCY7

    Protein attributes for CSMD2 Gene

    Size:
    3487 amino acids
    Molecular mass:
    380039 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04593.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CSMD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSMD2 Gene

Proteomics data for CSMD2 Gene at MOPED

Post-translational modifications for CSMD2 Gene

  • Glycosylation at Asn25, Asn34, Asn51, Asn581, Asn680, Asn949, Asn983, Asn1009, Asn1028, Asn1158, Asn1178, Asn1194, Asn1393, Asn1566, Asn1638, Asn1786, Asn1799, Asn1876, Asn2012, Asn2185, Asn2190, Asn2223, Asn2394, Asn2430, Asn2731, Asn2809, Asn2878, Asn2937, Asn2971, Asn3001, Asn3055, Asn3143, Asn3175, Asn3307, and Asn3407
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CSMD2 Gene

Domains for CSMD2 Gene

Protein Domains for CSMD2 Gene

Suggested Antigen Peptide Sequences for CSMD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z408

UniProtKB/Swiss-Prot:

CSMD2_HUMAN :
  • Q7Z408
Domain:
  • Contains 14 CUB domains.
  • Contains 26 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the CSMD family.
genes like me logo Genes that share domains with CSMD2: view

No data available for Gene Families for CSMD2 Gene

Function for CSMD2 Gene

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSMD2

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CSMD2 Gene

Localization for CSMD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSMD2 Gene

Cell membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSMD2 Gene COMPARTMENTS Subcellular localization image for CSMD2 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CSMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CSMD2: view

Pathways for CSMD2 Gene

SuperPathways for CSMD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSMD2 Gene

None

No data available for Pathways by source for CSMD2 Gene

Transcripts for CSMD2 Gene

mRNA/cDNA for CSMD2 Gene

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

Unigene Clusters for CSMD2 Gene

CUB and Sushi multiple domains 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSMD2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CSMD2
  • 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

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSMD2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a ·
SP1: - - - - -
SP2:
SP3:
SP4:
SP5:

ExUns: 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a · 46b ^ 47a · 47b ^ 48 ^
SP1: - -
SP2: -
SP3:
SP4:
SP5:

ExUns: 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54a · 54b ^ 55 ^ 56 ^ 57a · 57b ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^ 71 ^ 72 ^
SP1:
SP2:
SP3: - - -
SP4:
SP5:

ExUns: 73 ^ 74 ^
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CSMD2 Gene

GeneLoc Exon Structure for
CSMD2
ECgene alternative splicing isoforms for
CSMD2

Expression for CSMD2 Gene

mRNA expression in normal human tissues for CSMD2 Gene

mRNA differential expression in normal tissues according to GTEx for CSMD2 Gene

This gene is overexpressed in Brain - Hypothalamus (4.6), Brain - Cortex (4.4), and Brain - Nucleus accumbens (basal ganglia) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CSMD2 Gene

SOURCE GeneReport for Unigene cluster for CSMD2 Gene Hs.656915

mRNA Expression by UniProt/SwissProt for CSMD2 Gene

Q7Z408-CSMD2_HUMAN
Tissue specificity: Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. Overexpressed in some head and neck cancer cell lines.
genes like me logo Genes that share expressions with CSMD2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CSMD2 Gene

Orthologs for CSMD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSMD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSMD2 35
  • 99.53 (n)
  • 99.52 (a)
CSMD2 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CSMD2 35
  • 91.38 (n)
  • 96.17 (a)
CSMD2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSMD2 35
  • 89.09 (n)
  • 94.71 (a)
CSMD2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csmd2 35
  • 89.28 (n)
  • 95.62 (a)
Csmd2 16
Csmd2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CSMD2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSMD2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csmd2 35
  • 89.11 (n)
  • 95.28 (a)
chicken
(Gallus gallus)
Aves CSMD2 35
  • 77.62 (n)
  • 83.43 (a)
CSMD2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSMD2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csmd2 35
  • 72.45 (n)
  • 79.34 (a)
zebrafish
(Danio rerio)
Actinopterygii csmd2 35
  • 69.3 (n)
  • 72.68 (a)
csmd2 36
  • 69 (a)
OneToOne
Species with no ortholog for CSMD2:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CSMD2 Gene

ENSEMBL:
Gene Tree for CSMD2 (if available)
TreeFam:
Gene Tree for CSMD2 (if available)

Paralogs for CSMD2 Gene

Paralogs for CSMD2 Gene

Selected SIMAP similar genes for CSMD2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CSMD2: view

Variants for CSMD2 Gene

Sequence variations from dbSNP and Humsavar for CSMD2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs737 -- 33,596,088(+) TCTCT(C/G)ACAGT intron-variant
rs167126 -- 33,555,937(+) acagc(A/C)acatt intron-variant
rs167127 -- 33,628,984(-) TGACA(A/C)CTTGA intron-variant
rs169766 -- 33,554,216(+) agaca(A/G)agtct intron-variant
rs169767 -- 33,590,976(-) GATAA(A/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSMD2 Gene

Variant ID Type Subtype PubMed ID
nsv355 CNV Insertion 18451855
nsv819833 CNV Gain 19587683
esv22194 CNV Loss 19812545
esv2659435 CNV Deletion 23128226
nsv518591 CNV Loss 19592680
esv25436 CNV Loss 19812545
nsv366 CNV Insertion 18451855
esv2746586 CNV Deletion 23290073
nsv524359 CNV Gain 19592680
nsv509180 CNV Insertion 20534489
esv272149 CNV Insertion 20981092
esv27629 CNV Loss 19812545
nsv834624 CNV Loss 17160897
nsv871907 CNV Loss 21882294
esv34112 CNV Loss 18971310
esv25885 CNV Loss 19812545
esv2746597 CNV Deletion 23290073
nsv834635 CNV Gain 17160897
nsv470709 CNV Gain 18288195
nsv834646 CNV Gain 17160897
nsv461062 CNV Loss 19166990
dgv28e201 CNV Deletion 23290073
esv2267346 CNV Deletion 18987734
nsv834657 CNV Gain 17160897
esv1307103 CNV Deletion 17803354
esv2659708 CNV Deletion 23128226
nsv158970 CNV Loss 16902084
nsv506926 CNV Insertion 20534489

Relevant External Links for CSMD2 Gene

HapMap Linkage Disequilibrium report
CSMD2
Human Gene Mutation Database (HGMD)
CSMD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSMD2 Gene

Disorders for CSMD2 Gene

Relevant External Links for CSMD2

Genetic Association Database (GAD)
CSMD2
Human Genome Epidemiology (HuGE) Navigator
CSMD2
genes like me logo Genes that share disorders with CSMD2: view

No data available for UniProtKB/Swiss-Prot for CSMD2 Gene

Publications for CSMD2 Gene

  1. Identification of two new members of the CSMD gene family. (PMID: 12906867) Lau W.L. … Scholnick S.B. (Genomics 2003) 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for CSMD2 Gene

Sources for CSMD2 Gene

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