CCDC184 (coiled-coil domain containing 184) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: CCDC184 (coiled-coil domain containing 184) Homo sapiens
Analyze
Symbol: CCDC184
Name: coiled-coil domain containing 184
RGD ID: 1605794
HGNC Page HGNC:33749
Description: Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C12orf68; coiled-coil domain-containing protein 184; hypothetical protein LOC387856; uncharacterized protein C12orf68
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
GRCh381248,183,644 - 48,185,926 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,183,644 - 48,185,926 (+)EnsemblGRCh38hg38GRCh38
GRCh371248,577,427 - 48,579,709 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,863,666 - 46,865,976 (+)NCBINCBI36Build 36hg18NCBI36
Celera1247,375,335 - 47,377,425 (+)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,608,781 - 45,611,124 (+)NCBIHuRef
CHM1_11248,542,808 - 48,545,151 (+)NCBICHM1_1
T2T-CHM13v2.01248,145,000 - 48,147,282 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15489336   PMID:16381901   PMID:20379614   PMID:21145461   PMID:21873635   PMID:25416956   PMID:28298427   PMID:29551912  
PMID:32296183  


Genomics

Comparative Map Data
CCDC184
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,183,644 - 48,185,926 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,183,644 - 48,185,926 (+)EnsemblGRCh38hg38GRCh38
GRCh371248,577,427 - 48,579,709 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,863,666 - 46,865,976 (+)NCBINCBI36Build 36hg18NCBI36
Celera1247,375,335 - 47,377,425 (+)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,608,781 - 45,611,124 (+)NCBIHuRef
CHM1_11248,542,808 - 48,545,151 (+)NCBICHM1_1
T2T-CHM13v2.01248,145,000 - 48,147,282 (+)NCBIT2T-CHM13v2.0
Ccdc184
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,065,687 - 98,068,015 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,065,039 - 98,068,015 (+)EnsemblGRCm39 Ensembl
GRCm381598,167,806 - 98,170,134 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,167,158 - 98,170,134 (+)EnsemblGRCm38mm10GRCm38
MGSCv371597,998,237 - 98,000,565 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361597,995,694 - 97,998,168 (+)NCBIMGSCv36mm8
Celera15100,297,120 - 100,299,448 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1554.17NCBI
Ccdc184
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,178,732 - 131,180,136 (+)NCBIGRCr8
mRatBN7.27129,297,635 - 129,301,961 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,298,212 - 129,304,494 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7131,096,249 - 131,097,653 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07133,321,789 - 133,323,193 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,234,267 - 133,235,671 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07139,760,571 - 139,764,901 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7139,762,614 - 139,764,013 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07138,898,271 - 138,899,675 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47136,886,522 - 136,887,926 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7125,791,377 - 125,792,781 (+)NCBICelera
Cytogenetic Map7q36NCBI
Ccdc184
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555007,052,041 - 7,052,625 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555007,051,998 - 7,053,848 (+)NCBIChiLan1.0ChiLan1.0
CCDC184
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21045,978,912 - 45,981,321 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11245,975,670 - 45,978,079 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01240,544,550 - 40,546,868 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11241,420,377 - 41,422,432 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1241,421,599 - 41,422,183 (-)Ensemblpanpan1.1panPan2
CCDC184
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,582,427 - 6,584,334 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,583,656 - 6,584,789 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2739,722,288 - 39,724,195 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0276,649,920 - 6,651,826 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl276,651,150 - 6,652,283 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1276,587,371 - 6,589,277 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,622,131 - 6,624,021 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02740,010,776 - 40,012,683 (+)NCBIUU_Cfam_GSD_1.0
Ccdc184
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494567,095,990 - 67,098,330 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,067,014 - 6,067,604 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,066,482 - 6,068,840 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC184
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl578,561,700 - 78,562,287 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1578,561,172 - 78,563,513 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CCDC184
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11144,411,952 - 44,415,141 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1144,413,341 - 44,413,925 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037201,963,221 - 201,965,555 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc184
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248164,095,503 - 4,096,090 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248164,094,268 - 4,096,786 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC184
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_001013635.4(CCDC184):c.150G>C (p.Gln50His) single nucleotide variant not specified [RCV004309584] Chr12:48184272 [GRCh38]
Chr12:48578055 [GRCh37]
Chr12:12q13.11		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1 copy number loss not provided [RCV002291537] Chr12:44661149..48921204 [GRCh37]
Chr12:12q12-13.11		 pathogenic
NM_001013635.4(CCDC184):c.412G>C (p.Glu138Gln) single nucleotide variant not specified [RCV004171085] Chr12:48184534 [GRCh38]
Chr12:48578317 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.67T>C (p.Ser23Pro) single nucleotide variant not specified [RCV004199343] Chr12:48184189 [GRCh38]
Chr12:48577972 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.128T>C (p.Leu43Pro) single nucleotide variant not specified [RCV004231003] Chr12:48184250 [GRCh38]
Chr12:48578033 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.305T>C (p.Leu102Ser) single nucleotide variant not specified [RCV004161858] Chr12:48184427 [GRCh38]
Chr12:48578210 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.569G>A (p.Gly190Asp) single nucleotide variant not specified [RCV004110940] Chr12:48184691 [GRCh38]
Chr12:48578474 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.529C>A (p.Pro177Thr) single nucleotide variant not specified [RCV004165193] Chr12:48184651 [GRCh38]
Chr12:48578434 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.29C>T (p.Thr10Ile) single nucleotide variant not specified [RCV004135565] Chr12:48184151 [GRCh38]
Chr12:48577934 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.413A>C (p.Glu138Ala) single nucleotide variant not specified [RCV004081651] Chr12:48184535 [GRCh38]
Chr12:48578318 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.20A>G (p.Glu7Gly) single nucleotide variant not specified [RCV004248097] Chr12:48184142 [GRCh38]
Chr12:48577925 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.371G>A (p.Gly124Glu) single nucleotide variant not specified [RCV004365583] Chr12:48184493 [GRCh38]
Chr12:48578276 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.383G>A (p.Ser128Asn) single nucleotide variant not specified [RCV004435349] Chr12:48184505 [GRCh38]
Chr12:48578288 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001013635.4(CCDC184):c.382A>G (p.Ser128Gly) single nucleotide variant not specified [RCV004435348] Chr12:48184504 [GRCh38]
Chr12:48578287 [GRCh37]
Chr12:12q13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:620
Count of miRNA genes:464
Interacting mature miRNAs:503
Transcripts:ENST00000316554
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.

Markers in Region
WI-21851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,579,381 - 48,579,653UniSTSGRCh37
Build 361246,865,648 - 46,865,920RGDNCBI36
Celera1247,377,097 - 47,377,369RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,610,796 - 45,611,068UniSTS
GeneMap99-GB4 RH Map12215.84UniSTS
Whitehead-RH Map12296.1UniSTS
NCBI RH Map12385.6UniSTS
D12S1929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,578,454 - 48,578,615UniSTSGRCh37
Build 361246,864,721 - 46,864,882RGDNCBI36
Celera1247,376,170 - 47,376,331RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,609,869 - 45,610,030UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 2 24 306 1 1 283 5 2407 6 532 25 278
Low 2211 2130 1023 211 621 89 3250 1927 1293 267 845 1389 127 1132 2035 2
Below cutoff 131 733 345 365 1004 327 814 256 26 119 55 150 43 1 72 474 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000316554   ⟹   ENSP00000320849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,183,644 - 48,185,926 (+)Ensembl
RefSeq Acc Id: NM_001013635   ⟹   NP_001013657
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,183,644 - 48,185,926 (+)NCBI
GRCh371248,577,366 - 48,579,709 (+)RGD
Build 361246,863,666 - 46,865,976 (+)NCBI Archive
Celera1247,375,335 - 47,377,425 (+)RGD
HuRef1245,608,781 - 45,611,124 (+)RGD
CHM1_11248,542,808 - 48,545,151 (+)NCBI
T2T-CHM13v2.01248,145,000 - 48,147,282 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001013657 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36801 (Get FASTA)   NCBI Sequence Viewer  
  BAB71071 (Get FASTA)   NCBI Sequence Viewer  
  BAB71283 (Get FASTA)   NCBI Sequence Viewer  
  EAW57977 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000320849
  ENSP00000320849.3
GenBank Protein Q52MB2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001013657   ⟸   NM_001013635
- UniProtKB: Q96MK5 (UniProtKB/Swiss-Prot),   Q96N39 (UniProtKB/Swiss-Prot),   Q52MB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000320849   ⟸   ENST00000316554

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q52MB2-F1-model_v2 AlphaFold Q52MB2 1-194 view protein structure

Promoters
RGD ID:6789748
Promoter ID:HG_KWN:15501
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:NM_001013635
Position:
Human AssemblyChrPosition (strand)Source
Build 361246,863,441 - 46,864,277 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33749 AgrOrtholog
COSMIC CCDC184 COSMIC
Ensembl Genes ENSG00000177875 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316554 ENTREZGENE
  ENST00000316554.5 UniProtKB/Swiss-Prot
GTEx ENSG00000177875 GTEx
HGNC ID HGNC:33749 ENTREZGENE
Human Proteome Map CCDC184 Human Proteome Map
InterPro DUF4677 UniProtKB/Swiss-Prot
KEGG Report hsa:387856 UniProtKB/Swiss-Prot
NCBI Gene 387856 ENTREZGENE
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 184 UniProtKB/Swiss-Prot
  PTHR31554 UniProtKB/Swiss-Prot
Pfam DUF4677 UniProtKB/Swiss-Prot
PharmGKB PA162377998 PharmGKB
UniProt CC184_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96MK5 ENTREZGENE
  Q96N39 ENTREZGENE
UniProt Secondary Q96MK5 UniProtKB/Swiss-Prot
  Q96N39 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-26 CCDC184  coiled-coil domain containing 184  C12orf68  chromosome 12 open reading frame 68  Symbol and/or name change 5135510 APPROVED