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    CRADD CASP2 and RIPK1 domain containing adaptor with death domain [ Homo sapiens (human) ]

    Gene ID: 8738, updated on 3-May-2024

    Summary

    Official Symbol
    CRADDprovided by HGNC
    Official Full Name
    CASP2 and RIPK1 domain containing adaptor with death domainprovided by HGNC
    Primary source
    HGNC:HGNC:2340
    See related
    Ensembl:ENSG00000169372 MIM:603454; AllianceGenome:HGNC:2340
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRT34; RAIDD
    Summary
    This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in heart (RPKM 3.8), liver (RPKM 2.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CRADD in Genome Data Viewer
    Location:
    12q22
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (93677375..93894840)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (93658870..93876341)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (94071151..94288616)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:93975910-93976410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:93976411-93976911 Neighboring gene SOCS2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:93977698-93978644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:93978645-93979590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:93984897-93985456 Neighboring gene suppressor of cytokine signaling 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:94018330-94019529 Neighboring gene phosphoglycerate mutase 1 (brain) pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94070392-94071207 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94071208-94072022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94072839-94073653 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:94092983-94093855 Neighboring gene CRADD antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:94135094-94136050 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:94136051-94137007 Neighboring gene Sharpr-MPRA regulatory region 12336 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:94178853-94180052 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:94218159-94218894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6773 Neighboring gene RNA, 7SL, cytoplasmic 630, pseudogene Neighboring gene uncharacterized LOC105369911 Neighboring gene uncharacterized LOC105369912 Neighboring gene Sharpr-MPRA regulatory region 7430 Neighboring gene RN7SK pseudogene 263

    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

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 34
    MedGen: C3281044 OMIM: 614499 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC9163

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables death domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of endopeptidase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in nucleolus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    death domain-containing protein CRADD
    Names
    CRADD/LYZ fusion
    RIP-associated ICH1/CED3-homologous protein with death domain
    caspase and RIP adaptor with death domain
    death adaptor molecule RAIDD
    death domain containing protein CRADD

    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.

    Genomic

    1. NG_032159.2 RefSeqGene

      Range
      5001..178382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320099.2NP_001307028.1  death domain-containing protein CRADD isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA150833, AC012085, AK294986, BC037905
      Consensus CDS
      CCDS9048.1
      UniProtKB/Swiss-Prot
      B7Z2Q5, P78560
      UniProtKB/TrEMBL
      B5BU44, Q53XL1
      Related
      ENSP00000439068.2, ENST00000542893.2
      Conserved Domains (2) summary
      cd08319
      Location:116198
      Death_RAIDD; Death domain of RIP-associated ICH-1 homologous protein with a death domain
      cd08327
      Location:194
      CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
    2. NM_001320100.2NP_001307029.1  death domain-containing protein CRADD isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AK294986, AK296225, HY113325
      Consensus CDS
      CCDS81722.1
      UniProtKB/TrEMBL
      B4DJT6, F5H7C2
      Related
      ENSP00000448685.1, ENST00000548483.5
      Conserved Domains (1) summary
      cd08327
      Location:194
      CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
    3. NM_001320101.3NP_001307030.1  death domain-containing protein CRADD isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (3) has a distinct, shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC025261, AI417529, AI791547, AK294986, HY113325
      Consensus CDS
      CCDS81720.1
      UniProtKB/TrEMBL
      B4DJT6, F8VV49
      Related
      ENSP00000449664.1, ENST00000552033.5
      Conserved Domains (1) summary
      cl14633
      Location:194
      DD; Death Domain Superfamily of protein-protein interaction domains
    4. NM_001330126.1NP_001317055.1  death domain-containing protein CRADD isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) has a distinct, shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AI417529, AK314861, CD108947
      Consensus CDS
      CCDS81719.1
      UniProtKB/TrEMBL
      F8VVY5
      Conserved Domains (1) summary
      cd08327
      Location:194
      CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
    5. NM_003805.5NP_003796.1  death domain-containing protein CRADD isoform 1

      See identical proteins and their annotated locations for NP_003796.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA150833, BC017042, HY113325
      Consensus CDS
      CCDS9048.1
      UniProtKB/Swiss-Prot
      B7Z2Q5, P78560
      UniProtKB/TrEMBL
      B5BU44, Q53XL1
      Related
      ENSP00000327647.3, ENST00000332896.8
      Conserved Domains (2) summary
      cd08319
      Location:116198
      Death_RAIDD; Death domain of RIP-associated ICH-1 homologous protein with a death domain
      cd08327
      Location:194
      CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain

    RNA

    1. NR_135147.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon and contains two alternate 3' exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294986, HY113325

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      93677375..93894840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429805.1XP_047285761.1  death domain-containing protein CRADD isoform X3

      Related
      ENSP00000448425.1, ENST00000551065.5
    2. XM_047429804.1XP_047285760.1  death domain-containing protein CRADD isoform X2

    3. XM_024449252.2XP_024305020.1  death domain-containing protein CRADD isoform X1

      UniProtKB/TrEMBL
      F8VVY5
      Related
      ENSP00000449570.1, ENST00000552983.5
      Conserved Domains (1) summary
      cd08327
      Location:194
      CARD_RAIDD; Caspase activation and recruitment domain of RIP-associated ICH-1 homologous protein with a death domain
    4. XM_017020145.2XP_016875634.1  death domain-containing protein CRADD isoform X4

      UniProtKB/TrEMBL
      B4DJT6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      93658870..93876341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373705.1XP_054229680.1  death domain-containing protein CRADD isoform X3

    2. XM_054373704.1XP_054229679.1  death domain-containing protein CRADD isoform X2

    3. XM_054373703.1XP_054229678.1  death domain-containing protein CRADD isoform X1

      UniProtKB/TrEMBL
      F8VVY5
    4. XM_054373706.1XP_054229681.1  death domain-containing protein CRADD isoform X4