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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. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CRELD2.

Gene Wiki entry for CRELD1 Gene

Additional gene information for CRELD1 Gene

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

Genomics for CRELD1 Gene

GeneHancer (GH) Regulatory Elements for CRELD1 Gene

Promoters and enhancers for CRELD1 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
GH03J009932 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 687.9 -0.2 -212 3 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC CRELD1 RAD18 SETD5 BRPF1 ENSG00000269886 EMC3-AS1 THUMPD3 ENSG00000269982 THUMPD3-AS1 TTLL3
GH03J010141 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.8 +208.8 208817 3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B VHL GC03P010143 GC03P010141 BRPF1 FANCD2 SETD5 GHRLOS CRELD1 SEC13 LINC00852
GH03J010024 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 +92.5 92464 2.7 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC FANCD2 CIDECP SRGAP3-AS3 BRPF1 SETD5 GHRLOS SEC13 BRK1 ATP2B2-IT1 ENSG00000230599
GH03J009896 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 12.1 -33.6 -33580 8.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A YBX1 DMAP1 YY1 IL17RE GC03P009923 GC03P009924 JAGN1 IL17RC BRPF1 FANCD2 CRELD1 PRRT3-AS1 RPUSD3
GH03J009985 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.3 +53.3 53344 2.5 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 EMC3-AS1 EMC3 BRPF1 FANCD2 SETD5 BRK1 GHRLOS RNU6-670P FANCD2OS PRRT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRELD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRELD1 gene promoter:
  • AP-1
  • CP2
  • Max
  • c-Myc
  • c-Myb
  • NRSF form 1
  • NRSF form 2
  • Zic3

Genomic Locations for CRELD1 Gene

Genomic Locations for CRELD1 Gene
11,626 bases
Plus strand
11,592 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 posLast=205205 and posLast=7979
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CRELD1
  • Boster Bio Antibodies for CRELD1

No data available for DME Specific Peptides for CRELD1 Gene

Domains & Families for CRELD1 Gene

Gene Families for CRELD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CRELD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CRELD family.
  • Belongs to the CRELD family.
genes like me logo Genes that share domains with CRELD1: view

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 Models for CRELD1 Gene

MGI Knock Outs for CRELD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CRELD1

miRNA for CRELD1 Gene

miRTarBase miRNAs that target CRELD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

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

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

Drugs & Compounds for CRELD1 Gene

No Compound Related Data Available

Transcripts for CRELD1 Gene

mRNA/cDNA for CRELD1 Gene

Unigene Clusters for CRELD1 Gene

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

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for CRELD1 Gene

  • Nervous system(4.5)
  • Lung(4.4)
  • Kidney(4.2)
  • Heart(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRELD1 Gene

Germ Layers:
  • endoderm
  • mesoderm
  • cardiovascular
  • respiratory
Head and neck:
  • ear
  • aorta
  • heart
  • heart valve
  • lung
  • blood
  • blood vessel
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 33
  • 99.52 (n)
(Canis familiaris)
Mammalia CRELD1 34 33
  • 91.43 (n)
(Bos Taurus)
Mammalia CRELD1 34 33
  • 90.63 (n)
(Mus musculus)
Mammalia Creld1 16 34 33
  • 88.97 (n)
(Rattus norvegicus)
Mammalia Creld1 33
  • 88.97 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
-- 34
  • 47 (a)
(Monodelphis domestica)
Mammalia CRELD1 34
  • 62 (a)
(Gallus gallus)
Aves LOC100858613 33
  • 72.76 (n)
  • 48 (a)
(Anolis carolinensis)
Reptilia CRELD1 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia creld1 33
  • 64.75 (n)
(Danio rerio)
Actinopterygii LOC569741 33
  • 65.16 (n)
CABZ01112331.1 34
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11377 34
  • 30 (a)
(Caenorhabditis elegans)
Secernentea F09E8.2 34
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11106 34
  • 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)
Evolutionary constrained regions (ECRs) for CRELD1: view image

Paralogs for CRELD1 Gene

Paralogs for CRELD1 Gene

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

  • H7C2L3_HUMAN
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 Variation AA Info Type
rs121912626 risk-factor, Atrioventricular septal defect 2, Atrioventricular septal defect 2 (AVSD2) [MIM:606217] 9,940,873(+) C/G coding_sequence_variant, missense_variant
rs121912627 risk-factor, Atrioventricular septal defect 2 9,944,556(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs140918692 likely-benign, Candidiasis, familial, 9 9,933,424(+) C/T upstream_transcript_variant
rs151155686 uncertain-significance, Candidiasis, familial, 9 9,932,659(+) C/T upstream_transcript_variant
rs181990653 benign, Candidiasis, familial, 9 9,933,242(+) C/G/T upstream_transcript_variant

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)

Additional Variant Information 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

(30) MalaCards diseases for CRELD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
atrioventricular septal defect 2
  • atrioventricular septal defect, susceptibility to, 2
partial atrioventricular canal
  • partial atrioventricular septal defects
atrioventricular septal defect
  • ecd
subvalvular aortic stenosis
  • aortic stenosis, subvalvular
pulmonary subvalvular stenosis
  • congenital infundibular stenosis
- 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.

Additional Disease Information for CRELD1

Genetic Association Database
Human Genome Epidemiology 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 SW … Maslen CL (American journal of human genetics 2003) 3 4 22 58
  2. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. (PMID: 12137942) Rupp PA … Maslen CL (Gene 2002) 2 3 4 58
  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 JC (PloS one 2010) 3 44 58
  4. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. (PMID: 18076106) Posch MG … Berger F (American journal of medical genetics. Part A 2008) 3 22 58
  5. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). (PMID: 15857420) Zatyka M … Maher ER (Clinical genetics 2005) 3 4 58

Products for CRELD1 Gene

Sources for CRELD1 Gene

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