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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. Gene Ontology (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

Additional gene information for CRELD2 Gene

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

Genomics for CRELD2 Gene

GeneHancer (GH) Regulatory Elements for CRELD2 Gene

Promoters and enhancers for CRELD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I049917 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 564.1 +0.3 294 2.4 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ETS1 SLC30A9 ZNF766 ALG12 CRELD2 LOC105377205 RABL2B GC22P049927
GH22I049932 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +18.1 18135 6.8 MLX ARID4B DMAP1 YY1 FOS SP3 SP5 NFYC REST SMARCB1 PIM3 LOC105377205 SELENOO MLC1 ALG12 CRELD2 PANX2 HDAC10 BRD1 TRABD
GH22I049851 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.7 -64.4 -64375 5.1 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 POLR2B GLIS2 ZNF207 ZBED4 LOC105377205 RABL2B HDAC10 CRELD2 TUBGCP6 BRD1 PIM3 SELENOO TRABD
GH22I049942 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8 +31.1 31074 13.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A ALG12 ENSG00000272836 RABL2B PLXNB2 TUBGCP6 ZBED4 LMF2 NCAPH2 CHKB BRD1
GH22I049824 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.9 -90.5 -90525 6 HDAC1 ARID4B SIN3A IRF4 RARA YY1 ZNF335 GLIS2 SCRT2 ZNF207 BRD1 LOC105377205 CHKB ARSA NCAPH2 PLXNB2 CRELD2 ENSG00000229409
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRELD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRELD2 gene promoter:

Genomic Locations for CRELD2 Gene

Genomic Locations for CRELD2 Gene
chr22:49,918,167-49,927,540
(GRCh38/hg38)
Size:
9,374 bases
Orientation:
Plus strand
chr22:50,311,815-50,321,188
(GRCh37/hg19)

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:
    Q6UXH1-CREL2_HUMAN
    Recommended name:
    Cysteine-rich with EGF-like domain protein 2
    Protein Accession:
    Q6UXH1
    Secondary Accessions:
    • A5GZA2
    • A5GZA3
    • A5GZA4
    • A5GZA5
    • A5GZA6
    • Q4W0V0
    • Q86UC0
    • Q9BU47

    Protein attributes for CRELD2 Gene

    Size:
    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 posLast=5858, posLast=190190, and posLast=251251

No data available for DME Specific Peptides for CRELD2 Gene

Domains & Families for CRELD2 Gene

Gene Families for CRELD2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CRELD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UXH1

UniProtKB/Swiss-Prot:

CREL2_HUMAN :
  • Belongs to the CRELD family.
Family:
  • Belongs to the CRELD family.
genes like me logo Genes that share domains with CRELD2: view

Function for CRELD2 Gene

Molecular function for CRELD2 Gene

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

Phenotypes From GWAS Catalog for CRELD2 Gene

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

miRNA for CRELD2 Gene

miRTarBase miRNAs that target CRELD2

Clone 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

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 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CRELD2 Gene

Pathways & Interactions for CRELD2 Gene

SuperPathways for CRELD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRELD2 Gene

None

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

Drugs & Compounds for CRELD2 Gene

No Compound Related Data Available

Transcripts for CRELD2 Gene

Unigene Clusters for CRELD2 Gene

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

Clone 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: - - - - -
SP7:

Relevant External Links for CRELD2 Gene

GeneLoc Exon Structure for
CRELD2
ECgene alternative splicing isoforms for
CRELD2

Expression for CRELD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

CRELD2

SOURCE GeneReport for Unigene cluster for CRELD2 Gene:

Hs.211282

mRNA Expression by UniProt/SwissProt for CRELD2 Gene:

Q6UXH1-CREL2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for CRELD2 Gene

  • Nervous system(4.4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with CRELD2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CRELD2 33 34
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia CRELD2 33 34
  • 80.68 (n)
mouse
(Mus musculus)
Mammalia Creld2 33 16 34
  • 79.2 (n)
rat
(Rattus norvegicus)
Mammalia Creld2 33
  • 78.59 (n)
dog
(Canis familiaris)
Mammalia CRELD2 33 34
  • 77.78 (n)
oppossum
(Monodelphis domestica)
Mammalia CRELD2 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRELD2 33 34
  • 63.49 (n)
lizard
(Anolis carolinensis)
Reptilia CRELD2 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497878 33
  • 59.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24289 33
zebrafish
(Danio rerio)
Actinopterygii creld2 33 34
  • 58.9 (n)
zgc66383 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9635 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007968 33
  • 55.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11377 33 34
  • 54.74 (n)
worm
(Caenorhabditis elegans)
Secernentea F09E8.2 33 34
  • 48.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 34
  • 32 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CRELD2 (if available)
TreeFam:
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 Variation AA Info Type
rs1047798076 uncertain-significance, Congenital disorder of glycosylation 49,918,260(+) G/A upstream_transcript_variant
rs113787911 likely-benign, Congenital disorder of glycosylation 49,918,342(+) ACA/A/ACACA upstream_transcript_variant
rs886057617 uncertain-significance, Congenital disorder of glycosylation 49,918,415(+) A/C upstream_transcript_variant
rs9616378 likely-benign, Congenital disorder of glycosylation 49,918,325(+) A/G upstream_transcript_variant
rs9616379 likely-benign, Congenital disorder of glycosylation 49,918,387(+) C/G/T upstream_transcript_variant

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)

Additional Variant Information for CRELD2 Gene

Human Gene Mutation Database (HGMD)
CRELD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRELD2

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: HGMD and DISEASES

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

Additional Disease Information for CRELD2

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 CL … Olson SB (Gene 2006) 3 4 22 58
  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 JA … Criado M (Journal of neurochemistry 2005) 3 4 58
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  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 HF … Gray A (Genome research 2003) 3 4 58

Products for CRELD2 Gene

Sources for CRELD2 Gene

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