Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8738
Gene name Gene Name - the full gene name approved by the HGNC.	CARD and death domain containing adaptor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CRADD
Synonyms (NCBI Gene) Gene synonyms aliases	MRT34, RAIDD
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q22
Summary Summary of gene provided in NCBI Entrez Gene.	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 apop

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141179774	G>A	Pathogenic-likely-pathogenic	Missense variant, downstream transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs370916968	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, downstream transcript variant
rs387906861	G>A,C	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs749655461	C>T	Pathogenic	Coding sequence variant, intron variant, downstream transcript variant, missense variant, genic downstream transcript variant

Show/Hide all(18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029087	hsa-miR-26b-5p	Microarray	19088304
MIRT514653	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT514652	hsa-miR-8076	PAR-CLIP	23446348
MIRT514651	hsa-miR-1246	PAR-CLIP	23446348
MIRT514650	hsa-miR-3201	PAR-CLIP	23446348
MIRT514649	hsa-miR-4791	PAR-CLIP	23446348
MIRT514648	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT514647	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT514653	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT514652	hsa-miR-8076	PAR-CLIP	23446348
MIRT514651	hsa-miR-1246	PAR-CLIP	23446348
MIRT514650	hsa-miR-3201	PAR-CLIP	23446348
MIRT514649	hsa-miR-4791	PAR-CLIP	23446348
MIRT514648	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT514647	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT907998	hsa-miR-4683	CLIP-seq
MIRT907999	hsa-miR-4686	CLIP-seq
MIRT2205112	hsa-miR-498	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IBA
GO:0002020	Function	Protease binding	IEA
GO:0002020	Function	Protease binding	IPI	9044836
GO:0005515	Function	Protein binding	IPI	8985253, 11156409, 15073321, 16652156, 17159900, 22458338, 25416956, 25910212, 27107012, 27773430, 31467278, 31515488, 32296183, 37398436
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005730	Component	Nucleolus	NAS	28432080
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	NAS	15073321
GO:0007165	Process	Signal transduction	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IC	9044836
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IBA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IMP	21726810
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	9044836
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	11821383
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	NAS	15073321
GO:0070513	Function	Death domain binding	IEA
GO:0070513	Function	Death domain binding	IPI	9044836
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0097190	Process	Apoptotic signaling pathway	IMP	8985253
GO:1905369	Component	Endopeptidase complex	IPI	15073321
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IBA
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
603454	2340	ENSG00000169372

Protein

UniProt ID

P78560

Protein name

Death domain-containing protein CRADD (Caspase and RIP adapter with death domain) (RIP-associated protein with a death domain)

Protein function

Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572, PubMed:9044836). Also recruits CAS

PDB

2O71 , 2OF5 , 3CRD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00619	CARD	6 → 89	Caspase recruitment domain	Domain
PF00531	Death	117 → 195	Death domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Constitutively expressed in most tissues, with particularly high expression in adult heart, testis, liver, skeletal muscle, fetal liver and kidney. {ECO:0000269|PubMed:8985253, ECO:0000269|PubMed:9044836}.

Sequence

MEARDKQVLRSLRLELGAEVLVEGLVLQYLYQEGILTENHIQEINAQTTGLRKTMLLLDI
LPSRGPKAFDTFLDSLQEFPWVREKLKKAREEAMTDLPAGDRLTGIPSHILNSSPSDRQI
NQLAQRLGPEWEPMVLSLGLSQTDIYRCKANHPHNVQSQVVEAFIRWRQRFGKQATFQSL
HNGLRAVEVDPSLLLHMLE

Sequence length

199

Interactions

View interactions

	Reactome
			TP53 Regulates Transcription of Caspase Activators and Caspases

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	Intellectual disability, autosomal recessive 34, intellectual disability, Intellectual disability, moderate	rs387906861, rs749655461, rs141179774, rs370916968, rs772665884	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Non-Syndromic Intellectual Disability	autosomal recessive non-syndromic intellectual disability	N/A	N/A	GenCC

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	30914828
Aortic Valve Disease	Associate	33125279
Atrial Fibrillation	Associate	31894294
Breast Neoplasms	Associate	17934210
Developmental Disabilities	Associate	34163010
Disease	Associate	33125279
Epilepsy	Associate	34163010
Intellectual Disability	Associate	30914828, 34163010
Isodicentric Chromosome 15 Syndrome	Associate	28591699
Lissencephaly	Associate	30914828, 34163010, 37880421
Lymphoma Mantle Cell	Associate	11468180
Megalencephaly	Associate	30914828, 34163010
Mental Disorders	Associate	34163010
Neoplasms	Associate	28591699
Pachygyria frontotemporal	Associate	30914828
Personality Disorders	Associate	30914828
Seizures	Associate	30914828
Squamous Cell Carcinoma of Head and Neck	Associate	17026852
Trigeminal Neuralgia	Associate	38158702

CRADD (CARD and death domain containing adaptor protein)