The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020] See more...

Aliases for CSMD2 Gene

Aliases for CSMD2 Gene

  • CUB And Sushi Multiple Domains 2 2 3 5
  • CUB And Sushi Domain-Containing Protein 2 3 4
  • CUB And Sushi Multiple Domains Protein 2 3 4
  • KIAA1884 2 4
  • CUB And Sushi (SCR Repeat) Domain 3
  • DJ1007G16.1 3
  • DJ1007G16.2 3
  • DJ947L8.1 3
  • CSMD2 5

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 cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]

GeneCards Summary for CSMD2 Gene

CSMD2 (CUB And Sushi Multiple Domains 2) is a Protein Coding gene. Diseases associated with CSMD2 include Neuronitis and Schizophrenia. An important paralog of this gene is CSMD1.

Gene Wiki entry for CSMD2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSMD2 Gene

Genomics for CSMD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CSMD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J034162 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 +0.6 641 5.6 ZNF654 JUND ZNF223 POLR2A ZIC2 ZBTB10 ETS1 ZEB1 CTCF SIN3A C1orf94 CSMD2 ZMYM1 ZMYM6 ENSG00000230163 GPR199P ZSCAN20 RF00001-001 RNA5SP42 HMGB4
GH01J033470 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +693.8 693791 3.9 BCLAF1 SP1 ZNF654 IKZF1 SIX5 ZNF10 POLR2A ZIC2 YY1 REST ZSCAN20 ZBTB8A AK2 CSMD2 ZNF362 RBBP4 PHC2 HPCA TLR12P MK280269-002
GH01J034188 Enhancer 0.8 Ensembl ENCODE 11.5 -22.6 -22559 2.4 ZNF521 PAX8 SP1 POU5F1 SOX6 ZSCAN4 NANOG KDM1A PHB2 MNT C1orf94 CSMD2 piR-37435 RF01061-004 GJB5
GH01J034268 Enhancer 0.7 Ensembl ENCODE 5.3 -102.6 -102606 0.9 ZIC2 KLF16 ZNF362 GLIS1 ZNF629 OSR2 FOS GLIS2 RAD21 POLR2A CSMD2 ENSG00000270241 lnc-CSMD2-2 piR-41525-015 C1orf94 GJB5
GH01J034140 Enhancer 0.3 Ensembl 11.8 +25.3 25342 0.6 SPI1 C1orf94 CSMD2 RF00001-001 RNA5SP42 HMGB4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSMD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSMD2

Genomic Locations for CSMD2 Gene

Latest Assembly
651,845 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
651,846 bases
Minus strand

(GRCh37/hg19 by Ensembl)
651,835 bases
Minus strand

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

    Protein attributes for CSMD2 Gene

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

    Alternative splice isoforms for CSMD2 Gene


neXtProt entry for CSMD2 Gene

Post-translational modifications for CSMD2 Gene

  • Glycosylation at Asn25, Asn34, Asn51, Asn1158, Asn1178, Asn1194, Asn1393, Asn1566, Asn1638, Asn581, Asn680, Asn1786, Asn1799, Asn1876, Asn2012, Asn949, Asn983, Asn1009, Asn1028, 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 & Families for CSMD2 Gene

Gene Families for CSMD2 Gene

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

Protein Domains for CSMD2 Gene

  • CUB domain
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for CSMD2 Gene

GenScript: Design optimal peptide antigens:
  • CUB and sushi multiple domains protein 2 (CSMD2_HUMAN)
  • CSMD2 protein (Q53TY4_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CSMD 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

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

Animal Models for research

  • Taconic Biosciences Mouse Models for CSMD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSMD2

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

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 4
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 0

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

PathCards logo

SuperPathways for CSMD2 Gene

No Data Available

Interacting Proteins for CSMD2 Gene

Gene Ontology (GO) - Biological Process for CSMD2 Gene


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

mRNA/cDNA for CSMD2 Gene

9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSMD2

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: - - - - -

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: -

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 ^
SP3: - - -

ExUns: 73 ^ 74 ^

Relevant External Links for CSMD2 Gene

GeneLoc Exon Structure for

Expression for CSMD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CSMD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for CSMD2 Gene

Protein tissue co-expression partners for CSMD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSMD2

SOURCE GeneReport for Unigene cluster for CSMD2 Gene:


mRNA Expression by UniProt/SwissProt for CSMD2 Gene:

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(4.7)
genes like me logo Genes that share expression patterns with CSMD2: view

Primer products for research

No data available for 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
(Pan troglodytes)
Mammalia CSMD2 29 30
  • 99.53 (n)
(Bos Taurus)
Mammalia CSMD2 29 30
  • 91.38 (n)
(Mus musculus)
Mammalia Csmd2 29 16 30
  • 89.28 (n)
(Rattus norvegicus)
Mammalia Csmd2 29
  • 89.11 (n)
(Canis familiaris)
Mammalia CSMD2 29 30
  • 89.09 (n)
(Monodelphis domestica)
Mammalia CSMD2 30
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia CSMD2 30
  • 81 (a)
(Gallus gallus)
Aves CSMD2 29 30
  • 77.62 (n)
(Anolis carolinensis)
Reptilia CSMD2 30
  • 69 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia csmd2 29
  • 72.45 (n)
(Danio rerio)
Actinopterygii csmd2 29 30
  • 69.3 (n)
Species where no ortholog for CSMD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for CSMD2 (if available)
Gene Tree for CSMD2 (if available)
Evolutionary constrained regions (ECRs) for CSMD2: view image
Alliance of Genome Resources:
Additional Orthologs for CSMD2

Paralogs for CSMD2 Gene

(6) SIMAP similar genes for CSMD2 Gene using alignment to 5 proteins:

  • Q53TY4_HUMAN
  • Q5T6B5_HUMAN
genes like me logo Genes that share paralogs with CSMD2: view

Variants for CSMD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSMD2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs193921034 Uncertain Significance: Malignant tumor of prostate 33,571,681(-) C/A
NM_052896.4(CSMD2):c.7814G>T (p.Arg2605Leu)
rs4424471 Benign: not provided 33,546,092(-) T/G
NM_052896.4(CSMD2):c.8613A>C (p.Ser2871=)
rs545062582 Likely Benign: not provided 33,611,114(-) C/T
NM_052896.4(CSMD2):c.6150G>A (p.Thr2050=)
rs756789191 Uncertain Significance: Attention deficit hyperactivity disorder 33,725,373(-) T/C
NM_052896.4(CSMD2):c.2551A>G (p.Ile851Val)
rs11588581 -- p.Ala2117Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CSMD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for CSMD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CSMD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSMD2

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  3. Voxelwise genome-wide association study (vGWAS). (PMID: 20171287) Stein JL … Alzheimer's Disease Neuroimaging Initiative (NeuroImage 2010) 3 40
  4. 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 40
  5. 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 40

Products for CSMD2 Gene

Sources for CSMD2 Gene