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Aliases for CSMD2 Gene

Aliases for CSMD2 Gene

  • CUB And Sushi Multiple Domains 2 2 3 5
  • CUB And Sushi Multiple Domains Protein 2 3 4
  • CUB And Sushi Domain-Containing Protein 2 3
  • CUB And Sushi (SCR Repeat) Domain 3
  • DJ1007G16.1 3
  • DJ1007G16.2 3
  • DJ947L8.1 3
  • KIAA1884 4

External Ids for CSMD2 Gene

Previous GeneCards Identifiers for CSMD2 Gene

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

Summaries for CSMD2 Gene

Entrez Gene Summary for CSMD2 Gene

  • The protein encoded by this gene is thought to be involved in the control of complement. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Mar 2017]

GeneCards Summary for CSMD2 Gene

CSMD2 (CUB And Sushi Multiple Domains 2) is a Protein Coding gene. Diseases associated with CSMD2 include Intermediate Charcot-Marie-Tooth Neuropathy and Benign Adult Familial Myoclonic Epilepsy. An important paralog of this gene is CSMD1.

Gene Wiki entry for CSMD2 Gene

Additional gene information for CSMD2 Gene

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

Genomics for CSMD2 Gene

Regulatory Elements for CSMD2 Gene

Enhancers for CSMD2 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
GH01H033361 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 9.8 +801.1 801141 7 PKNOX1 ATF1 ZNF493 ZFP64 ZNF133 ARID4B FEZF1 ZNF2 TCF12 ZNF766 ZBTB8A RBBP4 ZSCAN20 S100PBP BSDC1 PHC2 CSMD2-AS1 ZBTB8B ZNF362 CSMD2
GH01H033431 1.5 Ensembl ENCODE dbSUPER 9.8 +731.9 731886 4 PKNOX1 FOXA2 ATF1 ARID4B FOS YY2 ZNF662 KAT8 MIER3 SMARCA4 RBBP4 ZBTB8A ZSCAN20 A3GALT2 PHC2 ZBTB8B ZNF362 S100PBP CSMD2 GC01M033423
GH01H033455 1.4 Ensembl ENCODE dbSUPER 9.8 +709.8 709783 1.1 ELF3 HDGF PKNOX1 ATF1 BATF RAD21 ZNF366 ZNF143 ETV6 RUNX3 ZBTB8A RBBP4 ZBTB8B AK2 ZSCAN20 ZBTB8OS CSMD2 GC01M033423 TLR12P
GH01H033166 0.7 dbSUPER 9.8 +995.1 995138 8.6 BCOR PKNOX1 ZSCAN4 ZMYM3 SALL2 ZIC2 ZNF664 POLR2A ZNF600 PRDM10 TRIM62 ZBTB8B ZBTB8A ZSCAN20 CSMD2 GC01M033168 ENSG00000279179
GH01H034188 0.4 ENCODE 11.5 -22.8 -22821 0.4 POU5F1 CTBP2 CSMD2 C1orf94 PIR60480 GC01P034198 GC01M034179
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CSMD2 on UCSC Golden Path with GeneCards custom track

Promoters for CSMD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000251149 742 601 ZBTB10 MXI1 ZEB1 GLIS2 JUND ZFHX2 POLR2A GLIS1 PRDM10 ZBTB26
ENSR00000004585 1542 201 ZBTB26 EZH2

Genomic Locations for CSMD2 Gene

Genomic Locations for CSMD2 Gene
chr1:33,513,999-34,165,842
(GRCh38/hg38)
Size:
651,844 bases
Orientation:
Minus strand
chr1:33,979,609-34,631,443
(GRCh37/hg19)

Genomic View for CSMD2 Gene

Genes around CSMD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSMD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSMD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CSMD2 Gene

  • Glycosylation at posLast=2525, posLast=3434, posLast=5151, posLast=581581, posLast=680680, posLast=949949, posLast=983983, isoforms=41009, isoforms=41028, isoforms=2, 41158, isoforms=2, 41178, isoforms=2, 41194, isoforms=2, 41393, posLast=15661566, posLast=16381638, posLast=17861786, posLast=17991799, posLast=18761876, isoforms=2, 42012, isoforms=2, 42185, posLast=21902190, isoforms=2, 42223, isoforms=42394, isoforms=42430, posLast=27312731, isoforms=42809, isoforms=42878, posLast=29372937, isoforms=42971, posLast=30013001, isoforms=43055, posLast=31433143, isoforms=43175, posLast=33073307, and isoforms=43407
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CSMD2 Gene

Domains & Families for CSMD2 Gene

Gene Families for CSMD2 Gene

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

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 :
  • Belongs to the CSMD family.
Family:
  • Belongs to the CSMD family.
genes like me logo Genes that share domains with CSMD2: view

Function for CSMD2 Gene

Phenotypes From GWAS Catalog for CSMD2 Gene

Phenotypes for CSMD2 Gene

GenomeRNAi human phenotypes for CSMD2:
genes like me logo Genes that share phenotypes with CSMD2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
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 CSMD2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CSMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CSMD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSMD2 Gene

Pathways & Interactions for CSMD2 Gene

SuperPathways for CSMD2 Gene

No Data Available

Interacting Proteins for CSMD2 Gene

Gene Ontology (GO) - Biological Process for CSMD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CSMD2 Gene

Drugs & Compounds for CSMD2 Gene

No Compound Related Data Available

Transcripts for CSMD2 Gene

Unigene Clusters for CSMD2 Gene

CUB and Sushi multiple domains 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CSMD2 Gene

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

This gene is overexpressed in Brain - Hypothalamus (x4.6), Brain - Cortex (x4.4), and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for CSMD2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CSMD2 Gene



Protein tissue co-expression partners for CSMD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSMD2 Gene:

CSMD2

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.

Evidence on tissue expression from TISSUES for CSMD2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CSMD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia CSMD2 33 34
  • 91.38 (n)
mouse
(Mus musculus)
Mammalia Csmd2 33 16 34
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Csmd2 33
  • 89.11 (n)
dog
(Canis familiaris)
Mammalia CSMD2 33 34
  • 89.09 (n)
oppossum
(Monodelphis domestica)
Mammalia CSMD2 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSMD2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSMD2 33 34
  • 77.62 (n)
lizard
(Anolis carolinensis)
Reptilia CSMD2 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csmd2 33
  • 72.45 (n)
zebrafish
(Danio rerio)
Actinopterygii csmd2 33 34
  • 69.3 (n)
Species where no ortholog for CSMD2 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 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

(6) 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
rs193921034 Uncertain significance 33,571,681(-) TGGCC(A/G/T)ATGGA reference, missense
rs1000001633 -- 34,166,675(+) AGGAA(-/T)TTCCA upstream-variant-2KB
rs1000003839 -- 33,644,887(+) AATAT(C/T)CATTG intron-variant
rs1000004851 -- 34,113,554(+) GCCCC(C/T)TCATG intron-variant
rs1000011724 -- 33,800,119(+) TGAGC(C/T)CCTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834657 CNV gain 17160897
nsv834646 CNV gain 17160897
nsv834635 CNV gain 17160897
nsv834624 CNV loss 17160897
nsv819833 CNV gain 19587683
nsv545965 CNV loss 21841781
nsv545964 CNV gain 21841781
nsv524359 CNV gain 19592680
nsv518591 CNV loss 19592680
nsv509180 CNV insertion 20534489
nsv506926 OTHER sequence alteration 20534489
nsv476113 CNV novel sequence insertion 20440878
nsv470709 CNV gain 18288195
nsv461062 CNV loss 19166990
nsv366 CNV insertion 18451855
nsv355 CNV insertion 18451855
nsv158970 CNV deletion 16902084
nsv1122327 CNV deletion 24896259
nsv1114967 CNV deletion 24896259
nsv1076370 CNV deletion 25765185
nsv1075422 CNV deletion 25765185
esv3585703 CNV loss 21293372
esv3585701 CNV loss 21293372
esv3585697 CNV gain 21293372
esv3585695 CNV loss 21293372
esv3585694 CNV loss 21293372
esv3585691 CNV loss 21293372
esv3585687 CNV gain 21293372
esv3585686 CNV gain 21293372
esv3576916 CNV gain 25503493
esv3560571 CNV deletion 23714750
esv3560549 CNV deletion 23714750
esv3423069 CNV insertion 20981092
esv34112 CNV loss 18971310
esv3307875 CNV mobile element insertion 20981092
esv27629 CNV loss 19812545
esv2746597 CNV deletion 23290073
esv2746586 CNV deletion 23290073
esv2659708 CNV deletion 23128226
esv2659435 CNV deletion 23128226
esv25885 CNV loss 19812545
esv25436 CNV loss 19812545
esv2267346 CNV deletion 18987734
esv22194 CNV loss 19812545
esv1307103 CNV deletion 17803354
dgv3e215 CNV deletion 23714750
dgv18e201 CNV deletion 23290073
dgv17e214 CNV loss 21293372

Variation tolerance for CSMD2 Gene

Residual Variation Intolerance Score: 0.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.10; 95.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSMD2 Gene

Human Gene Mutation Database (HGMD)
CSMD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSMD2

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

Disorders for CSMD2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CSMD2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intermediate charcot-marie-tooth neuropathy
benign adult familial myoclonic epilepsy
  • adcme
long qt syndrome 1
  • long qt syndrome 1, acquired
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search CSMD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CSMD2

Genetic Association Database (GAD)
CSMD2
Human Genome Epidemiology (HuGE) Navigator
CSMD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSMD2
genes like me logo Genes that share disorders with CSMD2: view

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

Publications for CSMD2 Gene

  1. Identification of two new members of the CSMD gene family. (PMID: 12906867) Lau WL … Scholnick SB (Genomics 2003) 3 4 22 60
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. (PMID: 20360844) Arking DE … Chugh SS (PloS one 2010) 3 45 60

Products for CSMD2 Gene

Sources for CSMD2 Gene

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