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    CRELD2 cysteine rich with EGF like domains 2 [ Homo sapiens (human) ]

    Gene ID: 79174, updated on 10-Dec-2024

    Summary

    Official Symbol
    CRELD2provided by HGNC
    Official Full Name
    cysteine rich with EGF like domains 2provided by HGNC
    Primary source
    HGNC:HGNC:28150
    See related
    Ensembl:ENSG00000184164 MIM:607171; AllianceGenome:HGNC:28150
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable calcium ion binding activity and protein disulfide isomerase activity. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.3), testis (RPKM 9.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CRELD2 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (49918634..49927537)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50423116..50432198)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50312282..50321185)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50250325-50250985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50252588-50253125 Neighboring gene zinc finger BED-type containing 4 Neighboring gene ALG12 alpha-1,6-mannosyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50281931-50282432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50294104-50294824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50294825-50295544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50295545-50296264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50316438-50317008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50317009-50317578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13932 Neighboring gene Sharpr-MPRA regulatory region 8073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50336353-50337079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50337080-50337805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50340469-50341056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50343989-50344576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50344577-50345162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50346923-50347508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50358856-50359356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13943 Neighboring gene microRNA 6821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19295 Neighboring gene Pim-3 proto-oncogene, serine/threonine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50421116-50422037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50437830-50438788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50438789-50439748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50439749-50440706 Neighboring gene interleukin 17 receptor E like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50451079-50451679

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ44190, FLJ98733, MGC11256, DKFZp667O055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein disulfide isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein disulfide isomerase CRELD2
    Names
    cysteine-rich with EGF-like domain protein 2
    NP_001128573.1
    NP_001271246.1
    NP_001271247.1
    NP_077300.3
    XP_005261794.1
    XP_005261795.1
    XP_011528674.1
    XP_054181883.1
    XP_054181884.1
    XP_054181885.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135101.3NP_001128573.1  protein disulfide isomerase CRELD2 isoform a precursor

      See identical proteins and their annotated locations for NP_001128573.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as CRELD2-epsilon).
      Source sequence(s)
      BI462292, DQ470679
      Consensus CDS
      CCDS46730.1
      UniProtKB/Swiss-Prot
      Q6UXH1
      Related
      ENSP00000383938.3, ENST00000404488.7
      Conserved Domains (3) summary
      smart00261
      Location:304344
      FU; Furin-like repeats
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl00057
      Location:337377
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    2. NM_001284317.2NP_001271246.1  protein disulfide isomerase CRELD2 isoform c precursor

      See identical proteins and their annotated locations for NP_001271246.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (c, also known as CRELD2-gamma) that is shorter than isoform a.
      Source sequence(s)
      BI462292, BQ003113, DQ470677
      Consensus CDS
      CCDS63516.1
      UniProtKB/Swiss-Prot
      Q6UXH1
      Related
      ENSP00000384111.3, ENST00000403427.3
      Conserved Domains (3) summary
      pfam03302
      Location:197266
      VSP; Giardia variant-specific surface protein
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl00057
      Location:260300
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    3. NM_001284318.2NP_001271247.1  protein disulfide isomerase CRELD2 isoform d precursor

      See identical proteins and their annotated locations for NP_001271247.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (d, also known as CRELD2-alpha) that is shorter than isoform a.
      Source sequence(s)
      BC002894, BI462292, BQ003113
      Consensus CDS
      CCDS63515.1
      UniProtKB/Swiss-Prot
      Q6UXH1
      Related
      ENSP00000386034.3, ENST00000407217.7
      Conserved Domains (3) summary
      smart00261
      Location:194230
      FU; Furin-like repeats
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl00057
      Location:256296
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    4. NM_024324.5NP_077300.3  protein disulfide isomerase CRELD2 isoform b precursor

      See identical proteins and their annotated locations for NP_077300.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b, also known as CRELD2-delta) that is shorter than isoform a.
      Source sequence(s)
      AY358355, BI462292
      Consensus CDS
      CCDS14082.1
      UniProtKB/Swiss-Prot
      A5GZA2, A5GZA3, A5GZA4, A5GZA5, A5GZA6, Q4W0V0, Q6UXH1, Q86UC0, Q9BU47
      Related
      ENSP00000332223.4, ENST00000328268.9
      Conserved Domains (3) summary
      smart00261
      Location:194230
      FU; Furin-like repeats
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl00057
      Location:288328
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RNA

    1. NR_104295.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon and uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK308692, AL671710, BI462292, BQ003113

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      49918634..49927537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261737.4XP_005261794.1  protein disulfide isomerase CRELD2 isoform X1

      Conserved Domains (3) summary
      smart00261
      Location:305345
      FU; Furin-like repeats
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl00057
      Location:338378
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    2. XM_005261738.6XP_005261795.1  protein disulfide isomerase CRELD2 isoform X2

      See identical proteins and their annotated locations for XP_005261795.1

      UniProtKB/Swiss-Prot
      Q6UXH1
      Related
      ENST00000483652.5
      Conserved Domains (3) summary
      smart00261
      Location:194230
      FU; Furin-like repeats
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP
      cl00057
      Location:288328
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    3. XM_011530372.4XP_011528674.1  protein disulfide isomerase CRELD2 isoform X3

      UniProtKB/TrEMBL
      A6PWM2
      Related
      ENSP00000387769.1, ENST00000450207.5
      Conserved Domains (1) summary
      pfam11938
      Location:31120
      DUF3456; TLR4 regulator and MIR-interacting MSAP

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50423116..50432198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325908.1XP_054181883.1  protein disulfide isomerase CRELD2 isoform X1

    2. XM_054325909.1XP_054181884.1  protein disulfide isomerase CRELD2 isoform X2

    3. XM_054325910.1XP_054181885.1  protein disulfide isomerase CRELD2 isoform X3

      UniProtKB/TrEMBL
      A6PWM2