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Aliases for CRELD2 Gene

Aliases for CRELD2 Gene

  • Cysteine Rich With EGF Like Domains 2 2 3 5
  • Cysteine-Rich With EGF-Like Domains 2 2
  • Cysteine Rich With EGF-Like Domains 2 2

External Ids for CRELD2 Gene

Previous GeneCards Identifiers for CRELD2 Gene

  • GC22P048634
  • GC22P048698
  • GC22P050311
  • GC22P033259

Summaries for CRELD2 Gene

GeneCards Summary for CRELD2 Gene

CRELD2 (Cysteine Rich With EGF Like Domains 2) is a Protein Coding gene. Diseases associated with CRELD2 include Multiple Epiphyseal Dysplasia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CRELD1.

UniProtKB/Swiss-Prot for CRELD2 Gene

  • May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

Gene Wiki entry for CRELD2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRELD2 Gene

Genomics for CRELD2 Gene

Regulatory Elements for CRELD2 Gene

Enhancers for CRELD2 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
GH22F049942 1.8 FANTOM5 Ensembl ENCODE 7.9 +31.1 31089 13.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 TUBGCP6 ALG12 ENSG00000272836 ENSG00000273192 PIM3 PANX2 DENND6B TRABD CRELD2 ZBED4
GH22F049917 1 ENCODE 14.1 +0.3 294 2.4 ATF1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9 ALG12 CRELD2 LOC105377205 GC22P049927
GH22F049924 1.1 Ensembl ENCODE 12.1 +7.8 7840 2.7 HDAC1 TBP PKNOX1 ATF1 ZBTB40 GLIS2 ETV6 CREM EGR2 ZBTB11 LOC105377205 CRELD2 GC22P049927 ALG12
GH22F049879 1.3 FANTOM5 Ensembl ENCODE 7.5 -37.5 -37456 1.7 CTCF KLF1 WRNIP1 SIN3A ASH2L MAX RAD21 GLIS2 POLR2A EED LOC105377205 ALG12 CRELD2 ZBED4 TUBGCP6 HDAC10 PIR61029
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRELD2 on UCSC Golden Path with GeneCards custom track

Promoters for CRELD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000620100 233 2001 ATF1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9
ENSR00001844478 1533 201

Genomic Location for CRELD2 Gene

49,918,167 bp from pter
49,927,540 bp from pter
9,374 bases
Plus strand

Genomic View for CRELD2 Gene

Genes around CRELD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRELD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRELD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRELD2 Gene

Proteins for CRELD2 Gene

  • Protein details for CRELD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cysteine-rich with EGF-like domain protein 2
    Protein Accession:
    Secondary Accessions:
    • A5GZA2
    • A5GZA3
    • A5GZA4
    • A5GZA5
    • A5GZA6
    • Q4W0V0
    • Q86UC0
    • Q9BU47

    Protein attributes for CRELD2 Gene

    353 amino acids
    Molecular mass:
    38192 Da
    Quaternary structure:
    • May interact with CHRNA4.

    Alternative splice isoforms for CRELD2 Gene

neXtProt entry for CRELD2 Gene

Post-translational modifications for CRELD2 Gene

  • Glycosylation at Thr 58, Asn 190, and Asn 251
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CRELD2 Gene

Domains & Families for CRELD2 Gene

Suggested Antigen Peptide Sequences for CRELD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 EGF-like domains.
  • Belongs to the CRELD family.
  • Contains 2 FU (furin-like) repeats.
  • Contains 2 EGF-like domains.
  • Belongs to the CRELD family.
  • Contains 2 FU (furin-like) repeats.
genes like me logo Genes that share domains with CRELD2: view

No data available for Gene Families for CRELD2 Gene

Function for CRELD2 Gene

Molecular function for CRELD2 Gene

UniProtKB/Swiss-Prot Function:
May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

Gene Ontology (GO) - Molecular Function for CRELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with CRELD2: view
genes like me logo Genes that share phenotypes with CRELD2: view

Animal Models for CRELD2 Gene

MGI Knock Outs for CRELD2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CRELD2

miRNA for CRELD2 Gene

miRTarBase miRNAs that target CRELD2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CRELD2 Gene

Localization for CRELD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRELD2 Gene

Secreted. Endoplasmic reticulum.

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 CRELD2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
golgi apparatus 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CRELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CRELD2: view

Pathways & Interactions for CRELD2 Gene

SuperPathways for CRELD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRELD2 Gene


No data available for Pathways by source and SIGNOR curated interactions for CRELD2 Gene

Transcripts for CRELD2 Gene

Unigene Clusters for CRELD2 Gene

Cysteine-rich with EGF-like domains 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRELD2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - -
SP5: - -
SP6: - - - - -

Relevant External Links for CRELD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRELD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRELD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRELD2 Gene

This gene is overexpressed in Adrenal (32.1) and Oral epithelium (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CRELD2 Gene

Protein tissue co-expression partners for CRELD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CRELD2 Gene:


SOURCE GeneReport for Unigene cluster for CRELD2 Gene:


mRNA Expression by UniProt/SwissProt for CRELD2 Gene:

Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with CRELD2: view

Primer Products

No data available for mRNA differential expression in normal tissues for CRELD2 Gene

Orthologs for CRELD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRELD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CRELD2 34 35
  • 99.42 (n)
(Bos Taurus)
Mammalia CRELD2 34 35
  • 80.68 (n)
(Mus musculus)
Mammalia Creld2 34 16 35
  • 79.2 (n)
(Rattus norvegicus)
Mammalia Creld2 34
  • 78.59 (n)
(Canis familiaris)
Mammalia CRELD2 34 35
  • 77.78 (n)
(Monodelphis domestica)
Mammalia CRELD2 35
  • 58 (a)
(Gallus gallus)
Aves CRELD2 34 35
  • 63.49 (n)
(Anolis carolinensis)
Reptilia CRELD2 35
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497878 34
  • 59.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24289 34
(Danio rerio)
Actinopterygii creld2 34 35
  • 58.9 (n)
zgc66383 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9635 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007968 34
  • 55.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11377 34 35
  • 54.74 (n)
(Caenorhabditis elegans)
Secernentea F09E8.2 34 35
  • 48.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 35
  • 32 (a)
Species where no ortholog for CRELD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CRELD2 Gene

Gene Tree for CRELD2 (if available)
Gene Tree for CRELD2 (if available)

Paralogs for CRELD2 Gene

Paralogs for CRELD2 Gene

(2) SIMAP similar genes for CRELD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CRELD2: view

Variants for CRELD2 Gene

Sequence variations from dbSNP and Humsavar for CRELD2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10854860 -- 49,926,381(+) TCAAG(G/T)AGATA intron-variant, utr-variant-3-prime
rs11090920 -- 49,926,457(+) GACAA(A/G)TAAAA intron-variant, utr-variant-3-prime
rs111244256 -- 49,917,705(+) GTTAC(-/T)TTTTT intron-variant, upstream-variant-2KB
rs111257439 -- 49,922,561(+) CCCCA(A/G)GCTGG intron-variant
rs111385776 -- 49,920,198(+) GTGAA(A/G)ACACT nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CRELD2 Gene

Variant ID Type Subtype PubMed ID
nsv955195 CNV deletion 24416366
nsv473890 CNV novel sequence insertion 20440878
nsv471221 CNV loss 18288195
esv2724722 CNV deletion 23290073
dgv1335e212 CNV loss 25503493
dgv1334e212 CNV loss 25503493

Variation tolerance for CRELD2 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.45; 82.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRELD2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRELD2 Gene

Disorders for CRELD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CRELD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
multiple epiphyseal dysplasia
  • polyepiphyseal dysplasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CRELD2

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CRELD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CRELD2 Gene

Publications for CRELD2 Gene

  1. CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region. (PMID: 16919896) Maslen C.L. … Olson S.B. (Gene 2006) 3 4 22 64
  2. The cysteine-rich with EGF-like domains 2 (CRELD2) protein interacts with the large cytoplasmic domain of human neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunits. (PMID: 16238698) Ortiz J.A. … Criado M. (J. Neurochem. 2005) 3 4 64
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 64
  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 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for CRELD2 Gene

Sources for CRELD2 Gene

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