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Aliases for CRELD1 Gene

Aliases for CRELD1 Gene

  • Cysteine Rich With EGF Like Domains 1 2 3 5
  • CIRRIN 3 4
  • Cysteine-Rich With EGF-Like Domain Protein 1 3
  • Cysteine-Rich With EGF-Like Domains 1 2
  • Cysteine Rich With EGF-Like Domains 1 2
  • Atrioventricular Septal Defect 2 2
  • AVSD2 3

External Ids for CRELD1 Gene

Previous HGNC Symbols for CRELD1 Gene

  • AVSD2

Previous GeneCards Identifiers for CRELD1 Gene

  • GC03U990184
  • GC03P009915
  • GC03P009967
  • GC03P009951
  • GC03P009952
  • GC03P009953
  • GC03P009975
  • GC03P009913

Summaries for CRELD1 Gene

Entrez Gene Summary for CRELD1 Gene

  • This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

GeneCards Summary for CRELD1 Gene

CRELD1 (Cysteine Rich With EGF Like Domains 1) is a Protein Coding gene. Diseases associated with CRELD1 include Atrioventricular Septal Defect 2 and Partial Atrioventricular Canal. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CRELD2.

Gene Wiki entry for CRELD1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRELD1 Gene

Genomics for CRELD1 Gene

Regulatory Elements for CRELD1 Gene

Enhancers for CRELD1 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
GH03F009932 1.2 ENCODE 37.9 -0.2 -212 3.0 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 CRELD1 THUMPD3-AS1 RAD18 ENSG00000269894 TATDN2 EMC3-AS1 FANCD2OS GC03M009919 RNU6-882P
GH03F010141 1.1 ENCODE 22.8 +208.8 208818 3.0 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CRELD1 GHRLOS FANCD2 LINC00852 VHL BRK1 GC03P010143 GC03P010141 IRAK2
GH03F009896 1.4 Ensembl ENCODE 12 -33.6 -33581 8.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 CBX5 RAD18 THUMPD3-AS1 IL17RC GHRLOS JAGN1 ENSG00000269982 CRELD1 PRRT3-AS1 CYCSP10 FANCD2
GH03F010024 1.2 ENCODE 12.4 +92.5 92465 2.7 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SRGAP3-AS3 FANCD2OS BRK1 ATP2B2-IT1 ENSG00000230599 RNU6-882P CRELD1 FANCD2 CYCSP10 ATP2B2-IT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRELD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRELD1 Gene

9,933,788 bp from pter
9,945,413 bp from pter
11,626 bases
Plus strand

Genomic View for CRELD1 Gene

Genes around CRELD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRELD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRELD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRELD1 Gene

Proteins for CRELD1 Gene

  • Protein details for CRELD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cysteine-rich with EGF-like domain protein 1
    Protein Accession:
    Secondary Accessions:
    • A8MX90
    • B2RAA9
    • Q6I9X5
    • Q8NFT4
    • Q9Y409

    Protein attributes for CRELD1 Gene

    420 amino acids
    Molecular mass:
    45440 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CRELD1 Gene


neXtProt entry for CRELD1 Gene

Post-translational modifications for CRELD1 Gene

  • Glycosylation at Asn 79 and Asn 205
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CRELD1 Gene

Domains & Families for CRELD1 Gene

Suggested Antigen Peptide Sequences for CRELD1 Gene

GenScript: Design optimal peptide antigens:

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 CRELD1: view

No data available for Gene Families for CRELD1 Gene

Function for CRELD1 Gene

Molecular function for CRELD1 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin.

Gene Ontology (GO) - Molecular Function for CRELD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with CRELD1: view
genes like me logo Genes that share phenotypes with CRELD1: view

Human Phenotype Ontology for CRELD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CRELD1

miRNA for CRELD1 Gene

miRTarBase miRNAs that target CRELD1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CRELD1 Gene

Localization for CRELD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRELD1 Gene

Membrane; Multi-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 CRELD1 gene
Compartment Confidence
extracellular 3
cytosol 3
plasma membrane 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CRELD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CRELD1: view

Pathways & Interactions for CRELD1 Gene

SuperPathways for CRELD1 Gene

No Data Available

Interacting Proteins for CRELD1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: Q96HD1-CREL1_HUMAN ENSP00000321856 for CRELD1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CRELD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003197 endocardial cushion development TAS 18076106
GO:0003279 cardiac septum development TAS 18076106
genes like me logo Genes that share ontologies with CRELD1: view

No data available for Pathways by source and SIGNOR curated interactions for CRELD1 Gene

Transcripts for CRELD1 Gene

Unigene Clusters for CRELD1 Gene

Cysteine-rich with EGF-like domains 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRELD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: - - - - -
SP7: - -
SP8: -

Relevant External Links for CRELD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRELD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRELD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRELD1 Gene

This gene is overexpressed in Bone (19.3) and Plasma (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRELD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRELD1 Gene:


SOURCE GeneReport for Unigene cluster for CRELD1 Gene:


mRNA Expression by UniProt/SwissProt for CRELD1 Gene:

Tissue specificity: Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
genes like me logo Genes that share expression patterns with CRELD1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CRELD1 Gene

Orthologs for CRELD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRELD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CRELD1 34 35
  • 99.52 (n)
(Canis familiaris)
Mammalia CRELD1 34 35
  • 91.43 (n)
(Bos Taurus)
Mammalia CRELD1 34 35
  • 90.63 (n)
(Mus musculus)
Mammalia Creld1 34 16 35
  • 88.97 (n)
(Rattus norvegicus)
Mammalia Creld1 34
  • 88.97 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
-- 35
  • 47 (a)
(Monodelphis domestica)
Mammalia CRELD1 35
  • 62 (a)
(Gallus gallus)
Aves LOC100858613 34
  • 72.76 (n)
  • 48 (a)
(Anolis carolinensis)
Reptilia CRELD1 35
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia creld1 34
  • 64.75 (n)
(Danio rerio)
Actinopterygii LOC569741 34
  • 65.16 (n)
CABZ01112331.1 35
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11377 35
  • 30 (a)
(Caenorhabditis elegans)
Secernentea F09E8.2 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 35
  • 31 (a)
Species where no ortholog for CRELD1 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)
  • 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 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 CRELD1 Gene

Gene Tree for CRELD1 (if available)
Gene Tree for CRELD1 (if available)

Paralogs for CRELD1 Gene

Paralogs for CRELD1 Gene

(4) SIMAP similar genes for CRELD1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CRELD1: view

Variants for CRELD1 Gene

Sequence variations from dbSNP and Humsavar for CRELD1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121912626 Atrioventricular septal defect 2 (AVSD2) [MIM:606217], other 9,940,873(+) AGAGG(C/G)CCTGC reference, missense
rs28941780 Atrioventricular septal defect 2 (AVSD2) [MIM:606217], Pathogenic 9,937,624(+) CCACC(A/G)CCTGC reference, missense
rs28942091 Atrioventricular septal defect 2 (AVSD2) [MIM:606217], other 9,943,452(+) GTTAT(C/T)GCTGC reference, missense
rs28942092 Atrioventricular septal defect 2 (AVSD2) [MIM:606217], other 9,943,399(+) TGAGA(C/T)AGAGG reference, missense
rs146437600 Likely benign 9,940,887(+) GGCTA(C/T)GGGCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CRELD1 Gene

Variant ID Type Subtype PubMed ID
nsv589648 CNV loss 21841781
nsv834615 CNV loss 17160897

Variation tolerance for CRELD1 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRELD1 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 CRELD1 Gene

Disorders for CRELD1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for CRELD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
atrioventricular septal defect 2
  • atrioventricular septal defect, partial, with heterotaxy syndrome
partial atrioventricular canal
  • partial atrioventricular septal defects
atrioventricular septal defect
  • atrioventricular canal defect
complete atrioventricular canal-fallot tetralogy syndrome
  • cavc type c
complete atrioventricular canal-left heart obstruction syndrome
  • cavc type a
- elite association - COSMIC cancer census association via MalaCards


  • Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269 PubMed:12632326, ECO:0000269 PubMed:15857420}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CRELD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CRELD1: view

No data available for Genatlas for CRELD1 Gene

Publications for CRELD1 Gene

  1. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (PMID: 12632326) Robinson S.W. … Maslen C.L. (Am. J. Hum. Genet. 2003) 3 4 22 64
  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 4 64
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
  4. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. (PMID: 18076106) Posch M.G. … Berger F. (Am. J. Med. Genet. A 2008) 3 22 64
  5. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). (PMID: 15857420) Zatyka M. … Maher E.R. (Clin. Genet. 2005) 3 4 64

Products for CRELD1 Gene

Sources for CRELD1 Gene

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