CARD6 (caspase recruitment domain family member 6) - Rat Genome Database

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Gene: CARD6 (caspase recruitment domain family member 6) Homo sapiens
Analyze
Symbol: CARD6
Name: caspase recruitment domain family member 6
RGD ID: 1314062
HGNC Page HGNC:16394
Description: Predicted to be involved in apoptotic process and regulation of apoptotic process.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation; caspase recruitment domain family, member 6; caspase recruitment domain protein 6; caspase recruitment domain-containing protein 6; CINCIN1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38540,841,367 - 40,855,354 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl540,841,308 - 40,860,175 (+)EnsemblGRCh38hg38GRCh38
GRCh37540,841,469 - 40,855,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36540,877,167 - 40,891,213 (+)NCBINCBI36Build 36hg18NCBI36
Build 34540,877,053 - 40,891,211NCBI
Celera540,730,018 - 40,744,065 (+)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef540,793,014 - 40,807,089 (+)NCBIHuRef
CHM1_1540,843,508 - 40,857,554 (+)NCBICHM1_1
T2T-CHM13v2.0541,097,788 - 41,111,778 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:12775719   PMID:16418290   PMID:16582588   PMID:17081983   PMID:20025480   PMID:26976200   PMID:27545878   PMID:29729191   PMID:32513696   PMID:33844960  


Genomics

Comparative Map Data
CARD6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38540,841,367 - 40,855,354 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl540,841,308 - 40,860,175 (+)EnsemblGRCh38hg38GRCh38
GRCh37540,841,469 - 40,855,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36540,877,167 - 40,891,213 (+)NCBINCBI36Build 36hg18NCBI36
Build 34540,877,053 - 40,891,211NCBI
Celera540,730,018 - 40,744,065 (+)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef540,793,014 - 40,807,089 (+)NCBIHuRef
CHM1_1540,843,508 - 40,857,554 (+)NCBICHM1_1
T2T-CHM13v2.0541,097,788 - 41,111,778 (+)NCBIT2T-CHM13v2.0
Card6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39155,126,402 - 5,146,762 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl155,125,463 - 5,138,021 (-)EnsemblGRCm39 Ensembl
GRCm38155,096,920 - 5,116,562 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl155,095,981 - 5,108,539 (-)EnsemblGRCm38mm10GRCm38
MGSCv37155,047,439 - 5,058,533 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36155,044,654 - 5,055,748 (-)NCBIMGSCv36mm8
Celera154,947,408 - 4,958,502 (-)NCBICelera
Cytogenetic Map15A1NCBI
cM Map151.99NCBI
Card6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8255,921,832 - 55,934,388 (-)NCBIGRCr8
mRatBN7.2254,194,343 - 54,206,902 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl254,195,739 - 54,206,846 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx261,299,299 - 61,311,822 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0259,357,975 - 59,370,500 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0254,370,308 - 54,382,800 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0254,810,676 - 54,824,050 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl254,810,110 - 54,824,033 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0273,835,745 - 73,849,031 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4254,282,217 - 54,293,630 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1254,211,387 - 54,221,786 (-)NCBI
Celera249,844,057 - 49,855,089 (-)NCBICelera
Cytogenetic Map2q16NCBI
Card6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542625,123,436 - 25,132,198 (+)NCBIChiLan1.0ChiLan1.0
CARD6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2469,483,172 - 69,497,483 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1567,636,804 - 67,651,115 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0569,531,706 - 69,545,703 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1574,573,149 - 74,586,664 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl574,569,187 - 74,586,664 (-)Ensemblpanpan1.1panPan2
CARD6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1468,537,678 - 68,549,369 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl468,538,238 - 68,549,156 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha468,214,606 - 68,254,927 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0469,044,602 - 69,085,132 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl469,044,608 - 69,056,140 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1468,803,939 - 68,844,277 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0468,916,991 - 68,957,324 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0469,456,013 - 69,496,499 (-)NCBIUU_Cfam_GSD_1.0
Card6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213229,593,725 - 229,607,872 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365181,764,845 - 1,777,710 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365181,764,261 - 1,777,740 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CARD6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11625,803,851 - 25,817,515 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CARD6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1439,596,452 - 39,611,355 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl439,596,376 - 39,610,448 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607130,021,055 - 30,036,424 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Card6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475914,104,065 - 14,114,374 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CARD6
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
NM_032587.3(CARD6):c.342A>G (p.Ser114=) single nucleotide variant Malignant melanoma [RCV000066927] Chr5:40843210 [GRCh38]
Chr5:40843312 [GRCh37]
Chr5:40879069 [NCBI36]
Chr5:5p13.1		 not provided
NM_032587.3(CARD6):c.1125C>T (p.Pro375=) single nucleotide variant Malignant melanoma [RCV000066928] Chr5:40852457 [GRCh38]
Chr5:40852559 [GRCh37]
Chr5:40888316 [NCBI36]
Chr5:5p13.1		 not provided
NM_032587.3(CARD6):c.1912C>T (p.Leu638Phe) single nucleotide variant Malignant melanoma [RCV000066929] Chr5:40853244 [GRCh38]
Chr5:40853346 [GRCh37]
Chr5:40889103 [NCBI36]
Chr5:5p13.1		 not provided
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_032587.4(CARD6):c.3077A>G (p.His1026Arg) single nucleotide variant not specified [RCV004321375] Chr5:40854409 [GRCh38]
Chr5:40854511 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2925T>G (p.Cys975Trp) single nucleotide variant not specified [RCV004309025] Chr5:40854257 [GRCh38]
Chr5:40854359 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_032587.4(CARD6):c.2122C>G (p.Gln708Glu) single nucleotide variant not provided [RCV000900372] Chr5:40853454 [GRCh38]
Chr5:40853556 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.580A>G (p.Ile194Val) single nucleotide variant not provided [RCV000969886] Chr5:40843448 [GRCh38]
Chr5:40843550 [GRCh37]
Chr5:5p13.1		 benign
NM_032587.4(CARD6):c.2794G>A (p.Gly932Arg) single nucleotide variant not specified [RCV004282382] Chr5:40854126 [GRCh38]
Chr5:40854228 [GRCh37]
Chr5:5p13.1		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_032587.4(CARD6):c.1273A>G (p.Lys425Glu) single nucleotide variant not specified [RCV004324604] Chr5:40852605 [GRCh38]
Chr5:40852707 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.278G>A (p.Arg93Lys) single nucleotide variant not provided [RCV000886530] Chr5:40841660 [GRCh38]
Chr5:40841762 [GRCh37]
Chr5:5p13.1		 benign
NM_032587.4(CARD6):c.554G>A (p.Cys185Tyr) single nucleotide variant not provided [RCV000886531] Chr5:40843422 [GRCh38]
Chr5:40843524 [GRCh37]
Chr5:5p13.1		 benign
NM_032587.4(CARD6):c.791G>A (p.Gly264Glu) single nucleotide variant not provided [RCV000886532] Chr5:40843659 [GRCh38]
Chr5:40843761 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_032587.4(CARD6):c.10G>A (p.Glu4Lys) single nucleotide variant not specified [RCV004237725] Chr5:40841392 [GRCh38]
Chr5:40841494 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2552A>G (p.His851Arg) single nucleotide variant not specified [RCV004147814] Chr5:40853884 [GRCh38]
Chr5:40853986 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2833G>A (p.Asp945Asn) single nucleotide variant not specified [RCV004221015] Chr5:40854165 [GRCh38]
Chr5:40854267 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.2681C>T (p.Pro894Leu) single nucleotide variant not specified [RCV004164285] Chr5:40854013 [GRCh38]
Chr5:40854115 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1280T>C (p.Ile427Thr) single nucleotide variant not specified [RCV004196610] Chr5:40852612 [GRCh38]
Chr5:40852714 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.890G>A (p.Arg297Lys) single nucleotide variant not specified [RCV004143348] Chr5:40852222 [GRCh38]
Chr5:40852324 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2840C>T (p.Ser947Phe) single nucleotide variant not specified [RCV004112146] Chr5:40854172 [GRCh38]
Chr5:40854274 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.479T>G (p.Leu160Trp) single nucleotide variant not specified [RCV004151193] Chr5:40843347 [GRCh38]
Chr5:40843449 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.1699T>A (p.Leu567Met) single nucleotide variant not specified [RCV004171236] Chr5:40853031 [GRCh38]
Chr5:40853133 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.310C>T (p.Pro104Ser) single nucleotide variant not specified [RCV004177165] Chr5:40843178 [GRCh38]
Chr5:40843280 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1948G>A (p.Ala650Thr) single nucleotide variant not specified [RCV004125108] Chr5:40853280 [GRCh38]
Chr5:40853382 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1582G>C (p.Ala528Pro) single nucleotide variant not specified [RCV004165290] Chr5:40852914 [GRCh38]
Chr5:40853016 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.943T>C (p.Cys315Arg) single nucleotide variant not specified [RCV004240930] Chr5:40852275 [GRCh38]
Chr5:40852377 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2728C>T (p.Pro910Ser) single nucleotide variant not specified [RCV004186253] Chr5:40854060 [GRCh38]
Chr5:40854162 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2831C>G (p.Ser944Cys) single nucleotide variant not specified [RCV004155682] Chr5:40854163 [GRCh38]
Chr5:40854265 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1662T>G (p.Phe554Leu) single nucleotide variant not specified [RCV004147624] Chr5:40852994 [GRCh38]
Chr5:40853096 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2263C>T (p.Arg755Cys) single nucleotide variant not specified [RCV004072426] Chr5:40853595 [GRCh38]
Chr5:40853697 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.475G>A (p.Ala159Thr) single nucleotide variant not specified [RCV004109607] Chr5:40843343 [GRCh38]
Chr5:40843445 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1849G>C (p.Asp617His) single nucleotide variant not specified [RCV004091554] Chr5:40853181 [GRCh38]
Chr5:40853283 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.95C>T (p.Thr32Met) single nucleotide variant not specified [RCV004206315] Chr5:40841477 [GRCh38]
Chr5:40841579 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1030A>G (p.Ile344Val) single nucleotide variant not specified [RCV004182677] Chr5:40852362 [GRCh38]
Chr5:40852464 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.1676G>A (p.Cys559Tyr) single nucleotide variant not specified [RCV004130355] Chr5:40853008 [GRCh38]
Chr5:40853110 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.1402T>G (p.Ser468Ala) single nucleotide variant not specified [RCV004138406] Chr5:40852734 [GRCh38]
Chr5:40852836 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1063A>G (p.Lys355Glu) single nucleotide variant not specified [RCV004092870] Chr5:40852395 [GRCh38]
Chr5:40852497 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1278C>G (p.Asp426Glu) single nucleotide variant not specified [RCV004122023] Chr5:40852610 [GRCh38]
Chr5:40852712 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1316C>T (p.Pro439Leu) single nucleotide variant not specified [RCV004280636] Chr5:40852648 [GRCh38]
Chr5:40852750 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.589G>A (p.Gly197Arg) single nucleotide variant not specified [RCV004278226] Chr5:40843457 [GRCh38]
Chr5:40843559 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.970G>A (p.Asp324Asn) single nucleotide variant not specified [RCV004288239] Chr5:40852302 [GRCh38]
Chr5:40852404 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2770G>C (p.Ala924Pro) single nucleotide variant not specified [RCV004263995] Chr5:40854102 [GRCh38]
Chr5:40854204 [GRCh37]
Chr5:5p13.1		 likely benign
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_032587.4(CARD6):c.328G>A (p.Ala110Thr) single nucleotide variant not provided [RCV003886007]|not specified [RCV004369687] Chr5:40843196 [GRCh38]
Chr5:40843298 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_032587.4(CARD6):c.2523G>C (p.Arg841Ser) single nucleotide variant not specified [RCV004427166] Chr5:40853855 [GRCh38]
Chr5:40853957 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.324G>C (p.Met108Ile) single nucleotide variant not specified [RCV004427171] Chr5:40843192 [GRCh38]
Chr5:40843294 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.716T>C (p.Val239Ala) single nucleotide variant not specified [RCV004427173] Chr5:40843584 [GRCh38]
Chr5:40843686 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1018G>A (p.Ala340Thr) single nucleotide variant not specified [RCV004427155] Chr5:40852350 [GRCh38]
Chr5:40852452 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2545A>G (p.Ile849Val) single nucleotide variant not specified [RCV004427167] Chr5:40853877 [GRCh38]
Chr5:40853979 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.1804T>G (p.Leu602Val) single nucleotide variant not specified [RCV004427161] Chr5:40853136 [GRCh38]
Chr5:40853238 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1598G>A (p.Arg533His) single nucleotide variant not specified [RCV004427159] Chr5:40852930 [GRCh38]
Chr5:40853032 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2092G>A (p.Ala698Thr) single nucleotide variant not specified [RCV004427163] Chr5:40853424 [GRCh38]
Chr5:40853526 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2237C>T (p.Ser746Phe) single nucleotide variant not specified [RCV004427164] Chr5:40853569 [GRCh38]
Chr5:40853671 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.715G>A (p.Val239Ile) single nucleotide variant not specified [RCV004427172] Chr5:40843583 [GRCh38]
Chr5:40843685 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.788A>C (p.Glu263Ala) single nucleotide variant not specified [RCV004427174] Chr5:40843656 [GRCh38]
Chr5:40843758 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1041C>G (p.His347Gln) single nucleotide variant not specified [RCV004427156] Chr5:40852373 [GRCh38]
Chr5:40852475 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1052A>T (p.Asp351Val) single nucleotide variant not specified [RCV004427157] Chr5:40852384 [GRCh38]
Chr5:40852486 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1385A>G (p.Tyr462Cys) single nucleotide variant not specified [RCV004427158] Chr5:40852717 [GRCh38]
Chr5:40852819 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1616T>C (p.Phe539Ser) single nucleotide variant not specified [RCV004427160] Chr5:40852948 [GRCh38]
Chr5:40853050 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1957C>A (p.Leu653Met) single nucleotide variant not specified [RCV004427162] Chr5:40853289 [GRCh38]
Chr5:40853391 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2420G>A (p.Arg807Gln) single nucleotide variant not specified [RCV004427165] Chr5:40853752 [GRCh38]
Chr5:40853854 [GRCh37]
Chr5:5p13.1		 likely benign
NM_032587.4(CARD6):c.2717A>G (p.Gln906Arg) single nucleotide variant not specified [RCV004427168] Chr5:40854049 [GRCh38]
Chr5:40854151 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.3056C>T (p.Pro1019Leu) single nucleotide variant not specified [RCV004427169] Chr5:40854388 [GRCh38]
Chr5:40854490 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2458A>G (p.Arg820Gly) single nucleotide variant not specified [RCV004366038] Chr5:40853790 [GRCh38]
Chr5:40853892 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2009C>A (p.Ser670Tyr) single nucleotide variant not specified [RCV004299417] Chr5:40853341 [GRCh38]
Chr5:40853443 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1759G>A (p.Ala587Thr) single nucleotide variant not specified [RCV004154431] Chr5:40853091 [GRCh38]
Chr5:40853193 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1945C>G (p.Leu649Val) single nucleotide variant not specified [RCV004126830] Chr5:40853277 [GRCh38]
Chr5:40853379 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.1703T>C (p.Leu568Pro) single nucleotide variant not specified [RCV004340960] Chr5:40853035 [GRCh38]
Chr5:40853137 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_032587.4(CARD6):c.2134A>C (p.Ser712Arg) single nucleotide variant not specified [RCV004361406] Chr5:40853466 [GRCh38]
Chr5:40853568 [GRCh37]
Chr5:5p13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:396
Count of miRNA genes:324
Interacting mature miRNAs:340
Transcripts:ENST00000254691, ENST00000381677
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
CARD6_3632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37540,854,666 - 40,855,479UniSTSGRCh37
Build 36540,890,423 - 40,891,236RGDNCBI36
Celera540,743,275 - 40,744,088RGD
HuRef540,806,299 - 40,807,112UniSTS


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 237 601 661 94 732 21 786 69 120 92 158 1014 84 957 168 1
Low 2162 2372 1051 519 1138 434 3499 2106 3207 308 1271 520 86 247 2608 2
Below cutoff 34 14 12 9 73 10 70 19 393 19 26 69 3 12 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF356193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY196783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254691   ⟹   ENSP00000254691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl540,841,367 - 40,855,354 (+)Ensembl
RefSeq Acc Id: ENST00000381677   ⟹   ENSP00000371093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl540,841,308 - 40,860,175 (+)Ensembl
RefSeq Acc Id: NM_032587   ⟹   NP_115976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38540,841,367 - 40,855,354 (+)NCBI
GRCh37540,841,410 - 40,855,456 (+)RGD
Build 36540,877,167 - 40,891,213 (+)NCBI Archive
Celera540,730,018 - 40,744,065 (+)RGD
HuRef540,793,014 - 40,807,089 (+)RGD
CHM1_1540,843,508 - 40,857,554 (+)NCBI
T2T-CHM13v2.0541,097,788 - 41,111,778 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009989   ⟹   XP_016865478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38540,841,367 - 40,855,354 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417836   ⟹   XP_047273792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38540,843,634 - 40,855,354 (+)NCBI
RefSeq Acc Id: XM_054353703   ⟹   XP_054209678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0541,097,788 - 41,111,778 (+)NCBI
RefSeq Acc Id: XM_054353704   ⟹   XP_054209679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0541,100,055 - 41,111,778 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_115976   ⟸   NM_032587
- UniProtKB: Q52LR2 (UniProtKB/Swiss-Prot),   Q9BX69 (UniProtKB/Swiss-Prot),   Q59EG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865478   ⟸   XM_017009989
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000254691   ⟸   ENST00000254691
RefSeq Acc Id: ENSP00000371093   ⟸   ENST00000381677
RefSeq Acc Id: XP_047273792   ⟸   XM_047417836
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054209678   ⟸   XM_054353703
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054209679   ⟸   XM_054353704
- Peptide Label: isoform X2
Protein Domains
CARD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BX69-F1-model_v2 AlphaFold Q9BX69 1-1037 view protein structure

Promoters
RGD ID:6869480
Promoter ID:EPDNEW_H7905
Type:initiation region
Name:CARD6_2
Description:caspase recruitment domain family member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7906  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38540,841,202 - 40,841,262EPDNEW
RGD ID:6869482
Promoter ID:EPDNEW_H7906
Type:initiation region
Name:CARD6_1
Description:caspase recruitment domain family member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7905  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38540,841,372 - 40,841,432EPDNEW
RGD ID:6802935
Promoter ID:HG_KWN:50027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000254691,   ENST00000381677
Position:
Human AssemblyChrPosition (strand)Source
Build 36540,876,586 - 40,877,387 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16394 AgrOrtholog
COSMIC CARD6 COSMIC
Ensembl Genes ENSG00000132357 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254691 ENTREZGENE
  ENST00000254691.10 UniProtKB/Swiss-Prot
  ENST00000381677.4 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132357 GTEx
HGNC ID HGNC:16394 ENTREZGENE
Human Proteome Map CARD6 Human Proteome Map
InterPro CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84674 UniProtKB/Swiss-Prot
NCBI Gene 84674 ENTREZGENE
OMIM 609986 OMIM
PANTHER CARD6/NUCLEOLAR PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26076 PharmGKB
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J1T5_HUMAN UniProtKB/TrEMBL
  CARD6_HUMAN UniProtKB/Swiss-Prot
  L8EBB0_HUMAN UniProtKB/TrEMBL
  Q52LR2 ENTREZGENE
  Q59EG7 ENTREZGENE, UniProtKB/TrEMBL
  Q9BX69 ENTREZGENE
UniProt Secondary Q52LR2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CARD6  caspase recruitment domain family member 6  CARD6  caspase recruitment domain family, member 6  Symbol and/or name change 5135510 APPROVED