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Aliases for CRELD2 Gene

Aliases for CRELD2 Gene

  • Cysteine Rich With EGF Like Domains 2 2 3
  • Cysteine Rich With EGF-Like Domains 2 2 5
  • 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 metaphyseal chondrodysplasia, schmid type. 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

Promoters for CRELD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CRELD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRELD2 Gene

Chromosome:
22
Start:
49,918,167 bp from pter
End:
49,927,540 bp from pter
Size:
9,374 bases
Orientation:
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:
    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

Proteomics data for CRELD2 Gene at MOPED

Post-translational modifications for CRELD2 Gene

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

Other Protein References for CRELD2 Gene

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

Q6UXH1

UniProtKB/Swiss-Prot:

CREL2_HUMAN :
  • Contains 2 EGF-like domains.
  • Belongs to the CRELD family.
  • Contains 2 FU (furin-like) repeats.
Domain:
  • Contains 2 EGF-like domains.
Family:
  • Belongs to the CRELD family.
Similarity:
  • 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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CRELD2 Gene COMPARTMENTS Subcellular localization image for CRELD2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
golgi apparatus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CRELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum 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

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:

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 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, MOPED, and MaxQB for CRELD2 Gene



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.
genes like me logo Genes that share expression patterns with CRELD2: view

Protein tissue co-expression partners for CRELD2 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CRELD2 35
  • 80.68 (n)
  • 79.28 (a)
CRELD2 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRELD2 35
  • 77.78 (n)
  • 77.24 (a)
CRELD2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Creld2 35
  • 79.2 (n)
  • 77.68 (a)
Creld2 16
Creld2 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRELD2 35
  • 99.42 (n)
  • 99.5 (a)
CRELD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Creld2 35
  • 78.59 (n)
  • 78.59 (a)
oppossum
(Monodelphis domestica)
Mammalia CRELD2 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRELD2 35
  • 63.49 (n)
  • 62.46 (a)
CRELD2 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRELD2 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497878 35
  • 59.12 (n)
  • 59.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24289 35
zebrafish
(Danio rerio)
Actinopterygii creld2 35
  • 58.9 (n)
  • 57.28 (a)
zgc66383 35
creld2 36
  • 49 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9635 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007968 35
  • 55.86 (n)
  • 44.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11377 35
  • 54.74 (n)
  • 45.38 (a)
CG11377 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F09E8.2 35
  • 48.47 (n)
  • 42.36 (a)
F09E8.2 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 36
  • 32 (a)
OneToMany
Species with no ortholog for CRELD2:
  • 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 Sequence Context AA Info Type
rs8139422 - 49,921,715(+) ATGGA(A/C/T)GGCTA nc-transcript-variant, reference, missense
rs11545762 - 49,925,431(-) TAGTG(A/C/T)GCACT nc-transcript-variant, reference, missense
rs11545763 - 49,925,522(-) CCGTT(C/T)CTTCG nc-transcript-variant, reference, missense
rs1608 -- 49,927,295(-) TCTTC(A/G)CGGGA nc-transcript-variant, reference, synonymous-codon
rs3204132 -- 49,927,268(+) GAAGG(A/G)GAAAG nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv5046n71 CNV Loss 21882294
nsv915495 CNV Loss 21882294
dgv5049n71 CNV Loss 21882294
nsv471221 CNV Loss 18288195
nsv915506 CNV Loss 21882294
dgv5050n71 CNV Loss 21882294
nsv915508 CNV Loss 21882294
nsv915512 CNV Gain 21882294
dgv5051n71 CNV Loss 21882294
esv2724722 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
CRELD2
Human Gene Mutation Database (HGMD)
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: DISEASES

Disorder Aliases PubMed IDs
metaphyseal chondrodysplasia, schmid type
  • smcd
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CRELD2

Genetic Association Database (GAD)
CRELD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.L. … Olson S.B. (Gene 2006) 3 4 23 67
  2. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. (PMID: 12137942) Rupp P.A. … Maslen C.L. (Gene 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Characterization of V-ATPase inhibitor-induced secretion of cysteine-rich with EGF-like domains 2. (PMID: 24687431) Oh-hashi K. … Kiuchi K. (Cell Biol. Toxicol. 2014) 3
  5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 3

Products for CRELD2 Gene

Sources for CRELD2 Gene

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