CARD18 (caspase recruitment domain family member 18) - Rat Genome Database

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Gene: CARD18 (caspase recruitment domain family member 18) Homo sapiens
Analyze
Symbol: CARD18
Name: caspase recruitment domain family member 18
RGD ID: 1605643
HGNC Page HGNC:28861
Description: Enables CARD domain binding activity and caspase binding activity. Involved in negative regulation of interleukin-1 beta production. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: caspase recruitment domain family, member 18; caspase recruitment domain-containing protein 18; caspase-1 inhibitor Iceberg; ICEBERG; ICEBERG caspase-1 inhibitor; pseudo-ICE; UNQ5804
RGD Orthologs
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811105,137,714 - 105,139,769 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11105,137,714 - 105,531,697 (-)EnsemblGRCh38hg38GRCh38
GRCh3711105,008,441 - 105,010,496 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611104,513,879 - 104,515,663 (-)NCBINCBI36Build 36hg18NCBI36
Celera11102,172,632 - 102,174,645 (-)NCBICelera
Cytogenetic Map11q22.3NCBI
HuRef11100,939,464 - 100,941,477 (-)NCBIHuRef
CHM1_111104,891,417 - 104,893,430 (-)NCBICHM1_1
T2T-CHM13v2.011105,141,800 - 105,143,855 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11051551   PMID:11536016   PMID:11821383   PMID:12477932   PMID:12975309   PMID:15383541   PMID:21048031   PMID:21873635   PMID:23948415   PMID:27023378   PMID:27043298   PMID:28506683  


Genomics

Comparative Map Data
CARD18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811105,137,714 - 105,139,769 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11105,137,714 - 105,531,697 (-)EnsemblGRCh38hg38GRCh38
GRCh3711105,008,441 - 105,010,496 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611104,513,879 - 104,515,663 (-)NCBINCBI36Build 36hg18NCBI36
Celera11102,172,632 - 102,174,645 (-)NCBICelera
Cytogenetic Map11q22.3NCBI
HuRef11100,939,464 - 100,941,477 (-)NCBIHuRef
CHM1_111104,891,417 - 104,893,430 (-)NCBICHM1_1
T2T-CHM13v2.011105,141,800 - 105,143,855 (-)NCBIT2T-CHM13v2.0
LOC485601
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1239,047,897 - 9,068,151 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha239,083,391 - 9,103,591 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0239,332,619 - 9,352,892 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1239,145,778 - 9,165,971 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0239,288,616 - 9,308,875 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0239,282,199 - 9,302,477 (+)NCBIUU_Cfam_GSD_1.0
LOC641352
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11324,046,127 - 24,068,431 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21326,306,940 - 26,310,472 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in CARD18
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3		 pathogenic
GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1 copy number loss See cases [RCV000052713] Chr11:104510196..105323725 [GRCh38]
Chr11:104380924..105194452 [GRCh37]
Chr11:103886134..104699662 [NCBI36]
Chr11:11q22.3		 pathogenic
GRCh38/hg38 11q22.3(chr11:105022700-106359486)x1 copy number loss See cases [RCV000052714] Chr11:105022700..106359486 [GRCh38]
Chr11:104893427..106230213 [GRCh37]
Chr11:104398637..105735423 [NCBI36]
Chr11:11q22.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3 copy number gain See cases [RCV000053639] Chr11:104142626..107019997 [GRCh38]
Chr11:104013354..106890723 [GRCh37]
Chr11:103518564..106395933 [NCBI36]
Chr11:11q22.3		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1 copy number loss See cases [RCV000136574] Chr11:98357901..106059146 [GRCh38]
Chr11:98228629..105929873 [GRCh37]
Chr11:97733839..105435083 [NCBI36]
Chr11:11q22.1-22.3		 pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3		 pathogenic
GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3 copy number gain See cases [RCV000139988] Chr11:104192271..105418437 [GRCh38]
Chr11:104062999..105289164 [GRCh37]
Chr11:103568209..104794374 [NCBI36]
Chr11:11q22.3		 likely benign
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1 copy number loss not provided [RCV000683366] Chr11:102578709..107230611 [GRCh37]
Chr11:11q22.2-22.3		 likely pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11q22.3(chr11:104036858-105294945)x3 copy number gain not provided [RCV000750186] Chr11:104036858..105294945 [GRCh37]
Chr11:11q22.3		 likely benign
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 copy number loss not provided [RCV000848741] Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
GRCh37/hg19 11q22.3(chr11:104032613-105293148)x3 copy number gain not provided [RCV000847024] Chr11:104032613..105293148 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.3(chr11:104032889-105292804)x3 copy number gain not provided [RCV001006442] Chr11:104032889..105292804 [GRCh37]
Chr11:11q22.3		 likely benign
GRCh37/hg19 11q22.3(chr11:104805250-105062846)x1 copy number loss not provided [RCV001006444] Chr11:104805250..105062846 [GRCh37]
Chr11:11q22.3		 likely benign
GRCh37/hg19 11q22.3(chr11:103983847-106914369)x3 copy number gain not provided [RCV001006441] Chr11:103983847..106914369 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 copy number loss not provided [RCV001006439] Chr11:103320065..114349787 [GRCh37]
Chr11:11q22.3-23.2		 pathogenic
GRCh37/hg19 11q22.3(chr11:103980525-106914369)x1 copy number loss not provided [RCV001006440] Chr11:103980525..106914369 [GRCh37]
Chr11:11q22.3		 uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1		 pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q22.3(chr11:104411149-105195575)x3 copy number gain not provided [RCV002474787] Chr11:104411149..105195575 [GRCh37]
Chr11:11q22.3		 uncertain significance
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1 copy number loss not provided [RCV002472494] Chr11:101371503..109306519 [GRCh37]
Chr11:11q22.1-22.3		 pathogenic
NM_021571.4(CARD18):c.88T>A (p.Leu30Ile) single nucleotide variant not specified [RCV004096632] Chr11:105138998 [GRCh38]
Chr11:105009725 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_021571.4(CARD18):c.107G>T (p.Ser36Ile) single nucleotide variant not specified [RCV004228512] Chr11:105138979 [GRCh38]
Chr11:105009706 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_021571.4(CARD18):c.104T>C (p.Ile35Thr) single nucleotide variant not specified [RCV004073928] Chr11:105138982 [GRCh38]
Chr11:105009709 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_021571.4(CARD18):c.226C>T (p.Leu76Phe) single nucleotide variant not specified [RCV004266224] Chr11:105138860 [GRCh38]
Chr11:105009587 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_021571.4(CARD18):c.160G>T (p.Ala54Ser) single nucleotide variant not specified [RCV004336476] Chr11:105138926 [GRCh38]
Chr11:105009653 [GRCh37]
Chr11:11q22.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_021571.4(CARD18):c.157A>G (p.Lys53Glu) single nucleotide variant not specified [RCV004427149] Chr11:105138929 [GRCh38]
Chr11:105009656 [GRCh37]
Chr11:11q22.3		 uncertain significance
NM_021571.4(CARD18):c.28A>G (p.Arg10Gly) single nucleotide variant not specified [RCV004427150] Chr11:105139058 [GRCh38]
Chr11:105009785 [GRCh37]
Chr11:11q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:499
Count of miRNA genes:305
Interacting mature miRNAs:316
Transcripts:ENST00000526823, ENST00000530950, ENST00000532895
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 4 2 3 1 2 1058 2 2 11 5 1 3 514
Low 29 23 47 50 20 42 257 27 41 6 414 55 12 4 189 4
Below cutoff 268 606 175 81 116 46 470 538 1289 24 214 193 38 257 290

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000526823   ⟹   ENSP00000437035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11105,137,943 - 105,139,282 (-)Ensembl
RefSeq Acc Id: ENST00000528811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11105,157,927 - 105,531,697 (-)Ensembl
RefSeq Acc Id: ENST00000530950   ⟹   ENSP00000436691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11105,137,714 - 105,139,769 (-)Ensembl
RefSeq Acc Id: ENST00000532895   ⟹   ENSP00000437187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11105,138,028 - 105,139,593 (-)Ensembl
RefSeq Acc Id: ENST00000649856   ⟹   ENSP00000497940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11105,137,721 - 105,516,002 (-)Ensembl
RefSeq Acc Id: NM_021571   ⟹   NP_067546
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811105,137,714 - 105,139,769 (-)NCBI
GRCh3711105,008,448 - 105,010,461 (-)RGD
Build 3611104,513,879 - 104,515,663 (-)NCBI Archive
Celera11102,172,632 - 102,174,645 (-)RGD
HuRef11100,939,464 - 100,941,477 (-)ENTREZGENE
CHM1_111104,891,417 - 104,893,430 (-)NCBI
T2T-CHM13v2.011105,141,800 - 105,143,855 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_067546 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG23528 (Get FASTA)   NCBI Sequence Viewer  
  AAI31611 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88598 (Get FASTA)   NCBI Sequence Viewer  
  EAW67065 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000436691
  ENSP00000436691.1
  ENSP00000437035.1
  ENSP00000437187.1
  ENSP00000497940.1
GenBank Protein P57730 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_067546   ⟸   NM_021571
- UniProtKB: A2RRF8 (UniProtKB/Swiss-Prot),   P57730 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000497940   ⟸   ENST00000649856
RefSeq Acc Id: ENSP00000436691   ⟸   ENST00000530950
RefSeq Acc Id: ENSP00000437187   ⟸   ENST00000532895
RefSeq Acc Id: ENSP00000437035   ⟸   ENST00000526823
Protein Domains
CARD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P57730-F1-model_v2 AlphaFold P57730 1-90 view protein structure

Promoters
RGD ID:7221967
Promoter ID:EPDNEW_H16729
Type:initiation region
Name:CARD18_1
Description:caspase recruitment domain family member 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811105,139,758 - 105,139,818EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC CARD18 COSMIC
Ensembl Genes ENSG00000255501 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000526823.1 UniProtKB/TrEMBL
  ENST00000530950 ENTREZGENE
  ENST00000530950.2 UniProtKB/Swiss-Prot
  ENST00000532895.1 UniProtKB/TrEMBL
  ENST00000649856.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000255501 GTEx
HGNC ID HGNC:28861 ENTREZGENE
Human Proteome Map CARD18 Human Proteome Map
InterPro CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:59082 UniProtKB/Swiss-Prot
NCBI Gene 59082 ENTREZGENE
OMIM 605354 OMIM
PANTHER CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 18 UniProtKB/Swiss-Prot
  CASPASE-1 UniProtKB/Swiss-Prot
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164717642 PharmGKB
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2RRF8 ENTREZGENE
  CAR18_HUMAN UniProtKB/Swiss-Prot
  G5EA35_HUMAN UniProtKB/TrEMBL
  P57730 ENTREZGENE
UniProt Secondary A2RRF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CARD18  caspase recruitment domain family member 18    caspase recruitment domain family, member 18  Symbol and/or name change 5135510 APPROVED