CCDC138 (coiled-coil domain containing 138) - Rat Genome Database
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Gene: CCDC138 (coiled-coil domain containing 138) Homo sapiens
Analyze
Symbol: CCDC138
Name: coiled-coil domain containing 138
RGD ID: 1603550
HGNC Page HGNC
Description: ASSOCIATED WITH distal hereditary motor neuronopathy type 7A; ectodermal dysplasia 10B; ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: coiled-coil domain-containing protein 138; FLJ32745
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2108,786,757 - 108,885,477 (+)EnsemblGRCh38hg38GRCh38
GRCh382108,786,733 - 108,885,485 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,403,208 - 109,493,047 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,769,651 - 108,859,279 (+)NCBINCBI36hg18NCBI36
Celera2103,713,196 - 103,802,791 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,001,686 - 103,091,278 (+)NCBIHuRef
CHM1_12109,407,534 - 109,497,317 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

Additional References at PubMed
PMID:11329013   PMID:12477932   PMID:14702039   PMID:16461635   PMID:24255178   PMID:24613305   PMID:25281560   PMID:25900982   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26972000  
PMID:27880917   PMID:28514442   PMID:28596423   PMID:28718761   PMID:29395067   PMID:29568061   PMID:30021884   PMID:30561431   PMID:31462741   PMID:31586073   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
CCDC138
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2108,786,757 - 108,885,477 (+)EnsemblGRCh38hg38GRCh38
GRCh382108,786,733 - 108,885,485 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,403,208 - 109,493,047 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,769,651 - 108,859,279 (+)NCBINCBI36hg18NCBI36
Celera2103,713,196 - 103,802,791 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2103,001,686 - 103,091,278 (+)NCBIHuRef
CHM1_12109,407,534 - 109,497,317 (+)NCBICHM1_1
Ccdc138
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391058,333,523 - 58,412,066 (+)NCBIGRCm39mm39
GRCm381058,497,699 - 58,576,244 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1058,497,948 - 58,576,244 (+)EnsemblGRCm38mm10GRCm38
MGSCv371057,960,685 - 58,038,992 (+)NCBIGRCm37mm9NCBIm37
MGSCv361057,893,327 - 57,971,601 (+)NCBImm8
MGSCv361058,477,854 - 58,557,364 (+)NCBImm8
Cytogenetic Map10B4NCBI
Ccdc138
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02028,076,784 - 28,158,053 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2028,078,500 - 28,157,071 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02029,897,919 - 29,975,893 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42037,181,926 - 37,269,631 (-)NCBIRGSC3.4rn4RGSC3.4
Celera2027,943,945 - 28,023,299 (+)NCBICelera
Cytogenetic Map20q11NCBI
Ccdc138
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547012,251,682 - 12,305,973 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547012,249,279 - 12,305,099 (+)NCBIChiLan1.0ChiLan1.0
CCDC138
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A110,041,114 - 110,128,383 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A110,041,000 - 110,128,234 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A95,030,440 - 95,126,627 (+)NCBIMhudiblu_PPA_v0panPan3
CCDC138
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1034,976,670 - 35,086,297 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11034,976,341 - 35,086,080 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ccdc138
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936829335,977 - 397,252 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC138
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl347,470,706 - 47,523,536 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1347,470,649 - 47,525,606 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2349,632,032 - 49,688,845 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC138
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11412,320,653 - 12,412,191 (+)NCBI
ChlSab1.1 Ensembl1412,320,719 - 12,411,855 (+)Ensembl
Ccdc138
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474911,924,869 - 11,974,072 (+)NCBI

Position Markers
RH79061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,401,599 - 109,401,729UniSTSGRCh37
Build 362108,768,031 - 108,768,161RGDNCBI36
Celera2103,711,575 - 103,711,705RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2103,000,065 - 103,000,195UniSTS
RH98799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,401,597 - 109,401,730UniSTSGRCh37
Build 362108,768,029 - 108,768,162RGDNCBI36
Celera2103,711,573 - 103,711,706RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2103,000,063 - 103,000,196UniSTS
GeneMap99-GB4 RH Map2388.19UniSTS
RH78999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,402,015 - 109,402,137UniSTSGRCh37
Build 362108,768,447 - 108,768,569RGDNCBI36
Celera2103,711,991 - 103,712,113RGD
Cytogenetic Map2q12.3UniSTS
HuRef2103,000,481 - 103,000,603UniSTS
AB070186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,492,603 - 109,492,719UniSTSGRCh37
Build 362108,859,035 - 108,859,151RGDNCBI36
Celera2103,802,547 - 103,802,663RGD
HuRef2103,091,034 - 103,091,150UniSTS
RH70637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,492,910 - 109,493,035UniSTSGRCh37
Build 362108,859,342 - 108,859,467RGDNCBI36
Celera2103,802,854 - 103,802,979RGD
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
HuRef2103,091,341 - 103,091,466UniSTS
GeneMap99-GB4 RH Map2390.14UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1176
Count of miRNA genes:634
Interacting mature miRNAs:704
Transcripts:ENST00000295124, ENST00000409529, ENST00000412964, ENST00000447782, ENST00000456512, ENST00000470608, ENST00000608781, ENST00000609740
Prediction methods:Microtar, 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.


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 pharyngeal arch
High
Medium 53 13 10 180 11 190 34 56 31 394 98 3 1
Low 1856 1061 1577 509 1131 351 3243 727 3410 301 1061 1457 170 1 1162 1882 5 2
Below cutoff 529 1910 136 105 623 103 923 1433 268 86 5 58 2 42 905

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG216415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN919595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY368192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295124   ⟹   ENSP00000295124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,786,771 - 108,876,578 (+)Ensembl
RefSeq Acc Id: ENST00000409529   ⟹   ENSP00000386418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,786,761 - 108,876,576 (+)Ensembl
RefSeq Acc Id: ENST00000412964   ⟹   ENSP00000411800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,786,757 - 108,876,578 (+)Ensembl
RefSeq Acc Id: ENST00000447782   ⟹   ENSP00000407328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,786,788 - 108,794,712 (+)Ensembl
RefSeq Acc Id: ENST00000456512   ⟹   ENSP00000392385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,791,716 - 108,846,780 (+)Ensembl
RefSeq Acc Id: ENST00000470608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,786,773 - 108,794,670 (+)Ensembl
RefSeq Acc Id: ENST00000608781   ⟹   ENSP00000477316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,856,928 - 108,885,477 (+)Ensembl
RefSeq Acc Id: ENST00000609740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,882,191 - 108,885,475 (+)Ensembl
RefSeq Acc Id: NM_001303105   ⟹   NP_001290034
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
CHM1_12109,407,534 - 109,497,317 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303106   ⟹   NP_001290035
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
CHM1_12109,407,534 - 109,497,317 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351544   ⟹   NP_001338473
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351545   ⟹   NP_001338474
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,750 - 108,876,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351548   ⟹   NP_001338477
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,750 - 108,876,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351549   ⟹   NP_001338478
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351551   ⟹   NP_001338480
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351553   ⟹   NP_001338482
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351554   ⟹   NP_001338483
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351555   ⟹   NP_001338484
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351557   ⟹   NP_001338486
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,750 - 108,885,477 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351559   ⟹   NP_001338488
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351561   ⟹   NP_001338490
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,750 - 108,876,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351565   ⟹   NP_001338494
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144978   ⟹   NP_659415
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
GRCh372109,403,208 - 109,493,047 (+)NCBI
Build 362108,769,651 - 108,859,279 (+)NCBI Archive
Celera2103,713,196 - 103,802,791 (+)RGD
HuRef2103,001,686 - 103,091,278 (+)RGD
CHM1_12109,407,534 - 109,497,317 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130121
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
CHM1_12109,407,534 - 109,497,317 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147236
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,885,485 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147237
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147238
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,876,578 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510757   ⟹   XP_011509059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,783 - 108,878,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510760   ⟹   XP_011509062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,783 - 108,879,056 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510761   ⟹   XP_011509063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,783 - 108,879,056 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510762   ⟹   XP_011509064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,783 - 108,879,056 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003492   ⟹   XP_016858981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,752 - 108,878,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003493   ⟹   XP_016858982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,735 - 108,879,056 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003498   ⟹   XP_016858987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,783 - 108,879,056 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003502   ⟹   XP_016858991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,818 - 108,878,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003503   ⟹   XP_016858992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,750 - 108,878,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003504   ⟹   XP_016858993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,788 - 108,878,930 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452737   ⟹   XP_024308505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,733 - 108,882,843 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001738653
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,783 - 108,876,360 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001290034 (Get FASTA)   NCBI Sequence Viewer  
  NP_001290035 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338473 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338474 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338478 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338480 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338482 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338483 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338484 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338486 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338488 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338490 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338494 (Get FASTA)   NCBI Sequence Viewer  
  NP_659415 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509059 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509062 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509063 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509064 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858981 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858982 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858987 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858991 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858992 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858993 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308505 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH15847 (Get FASTA)   NCBI Sequence Viewer  
  AAH50579 (Get FASTA)   NCBI Sequence Viewer  
  AAX88855 (Get FASTA)   NCBI Sequence Viewer  
  AAY14985 (Get FASTA)   NCBI Sequence Viewer  
  BAB71420 (Get FASTA)   NCBI Sequence Viewer  
  BAC86081 (Get FASTA)   NCBI Sequence Viewer  
  EAW53870 (Get FASTA)   NCBI Sequence Viewer  
  EAW53871 (Get FASTA)   NCBI Sequence Viewer  
  EAW53872 (Get FASTA)   NCBI Sequence Viewer  
  EAW53873 (Get FASTA)   NCBI Sequence Viewer  
  Q96M89 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_659415   ⟸   NM_144978
- Peptide Label: isoform 1
- UniProtKB: Q96M89 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290034   ⟸   NM_001303105
- Peptide Label: isoform 2
- UniProtKB: Q96M89 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290035   ⟸   NM_001303106
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_011509063   ⟸   XM_011510761
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509062   ⟸   XM_011510760
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509059   ⟸   XM_011510757
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509064   ⟸   XM_011510762
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016858982   ⟸   XM_017003493
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016858992   ⟸   XM_017003503
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016858981   ⟸   XM_017003492
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016858987   ⟸   XM_017003498
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016858993   ⟸   XM_017003504
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016858991   ⟸   XM_017003502
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_024308505   ⟸   XM_024452737
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001338486   ⟸   NM_001351557
- Peptide Label: isoform 12
- Sequence:
RefSeq Acc Id: NP_001338473   ⟸   NM_001351544
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001338482   ⟸   NM_001351553
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001338483   ⟸   NM_001351554
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: NP_001338478   ⟸   NM_001351549
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001338488   ⟸   NM_001351559
- Peptide Label: isoform 13
- Sequence:
RefSeq Acc Id: NP_001338484   ⟸   NM_001351555
- Peptide Label: isoform 11
- Sequence:
RefSeq Acc Id: NP_001338480   ⟸   NM_001351551
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001338474   ⟸   NM_001351545
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001338490   ⟸   NM_001351561
- Peptide Label: isoform 14
- Sequence:
RefSeq Acc Id: NP_001338494   ⟸   NM_001351565
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001338477   ⟸   NM_001351548
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: ENSP00000411800   ⟸   ENST00000412964
RefSeq Acc Id: ENSP00000295124   ⟸   ENST00000295124
RefSeq Acc Id: ENSP00000392385   ⟸   ENST00000456512
RefSeq Acc Id: ENSP00000407328   ⟸   ENST00000447782
RefSeq Acc Id: ENSP00000386418   ⟸   ENST00000409529
RefSeq Acc Id: ENSP00000477316   ⟸   ENST00000608781

Promoters
RGD ID:6796947
Promoter ID:HG_KWN:34366
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409529,   OTTHUMT00000253593,   OTTHUMT00000331204,   OTTHUMT00000331205,   OTTHUMT00000331206,   UC002TEP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362108,769,411 - 108,769,911 (+)MPROMDB
RGD ID:6861294
Promoter ID:EPDNEW_H3812
Type:initiation region
Name:CCDC138_1
Description:coiled-coil domain containing 138
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,786,771 - 108,786,831EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 copy number loss See cases [RCV000051261] Chr2:108579001..109736559 [GRCh38]
Chr2:109195457..110494136 [GRCh37]
Chr2:108561889..109851425 [NCBI36]
Chr2:2q12.3-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
NM_144978.2(CCDC138):c.230C>T (p.Pro77Leu) single nucleotide variant Malignant melanoma [RCV000065015] Chr2:108788930 [GRCh38]
Chr2:109405386 [GRCh37]
Chr2:108771818 [NCBI36]
Chr2:2q13
not provided
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 copy number loss See cases [RCV000134167] Chr2:107962353..109700179 [GRCh38]
Chr2:108578809..110457756 [GRCh37]
Chr2:107945241..109815045 [NCBI36]
Chr2:2q12.3-13
pathogenic|uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 copy number loss See cases [RCV000135738] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 copy number gain See cases [RCV000136575] Chr2:108681906..109700179 [GRCh38]
Chr2:109298362..110457756 [GRCh37]
Chr2:108664794..109815045 [NCBI36]
Chr2:2q12.3-13
likely benign|uncertain significance
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 copy number loss See cases [RCV000141950] Chr2:108660713..109735214 [GRCh38]
Chr2:109277169..110492791 [GRCh37]
Chr2:108643601..109850080 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 copy number loss See cases [RCV000142089] Chr2:108526866..109746741 [GRCh38]
Chr2:109143322..110504318 [GRCh37]
Chr2:108509754..109861607 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 copy number gain not provided [RCV000762743] Chr2:109300532..110862536 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 copy number gain See cases [RCV000446992] Chr2:108526025..110876776 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 copy number gain See cases [RCV000510943] Chr2:108534030..110492791 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
Single allele duplication Neuronopathy, distal hereditary motor, type viia [RCV000534213] Chr2:107988136..108963283 [GRCh38]
Chr2:2q12.3-13
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1 copy number loss not provided [RCV000682122] Chr2:109295035..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 copy number gain not provided [RCV000682142] Chr2:108501887..110504318 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
NC_000002.12:g.(?_108719587)_(108963283_?)del deletion Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000708268] Chr2:108719587..108963283 [GRCh38]
Chr2:109336043..109579739 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.11:g.(?_109367964)_(109579739_?)dup duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814613] Chr2:108751508..108963283 [GRCh38]
Chr2:109367964..109579739 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.3(chr2:109392302-109492622)x3 copy number gain not provided [RCV000753078] Chr2:109392302..109492622 [GRCh37]
Chr2:2q12.3
benign
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930) copy number loss not provided [RCV000767554] Chr2:109301074..110482930 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1 copy number loss not provided [RCV001005304] Chr2:108499809..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
NC_000002.11:g.(?_109336043)_(109579739_?)dup duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000811356] Chr2:108719587..108963283 [GRCh38]
Chr2:109336043..109579739 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_107988146)_(108963283_?)del deletion Neuronopathy, distal hereditary motor, type viia [RCV001031168] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NC_000002.12:g.(?_107988146)_(108963283_?)dup duplication Neuronopathy, distal hereditary motor, type viia [RCV001033739] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NC_000002.12:g.(?_108729112)_(108963283_?)dup duplication Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001032251] Chr2:109345568..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26531 AgrOrtholog
COSMIC CCDC138 COSMIC
Ensembl Genes ENSG00000163006 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000295124 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386418 UniProtKB/TrEMBL
  ENSP00000392385 UniProtKB/TrEMBL
  ENSP00000407328 UniProtKB/TrEMBL
  ENSP00000411800 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477316 UniProtKB/TrEMBL
Ensembl Transcript ENST00000295124 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409529 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000412964 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000447782 UniProtKB/TrEMBL
  ENST00000456512 UniProtKB/TrEMBL
  ENST00000608781 UniProtKB/TrEMBL
GTEx ENSG00000163006 GTEx
HGNC ID HGNC:26531 ENTREZGENE
Human Proteome Map CCDC138 Human Proteome Map
InterPro CCDC138 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:165055 UniProtKB/Swiss-Prot
NCBI Gene 165055 ENTREZGENE
PANTHER PTHR34523 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381439 PharmGKB
UniGene Hs.362702 ENTREZGENE
  Hs.731709 ENTREZGENE
UniProt CC138_HUMAN UniProtKB/Swiss-Prot
  F8WF51_HUMAN UniProtKB/TrEMBL
  H7BZ08_HUMAN UniProtKB/TrEMBL
  H7C005_HUMAN UniProtKB/TrEMBL
  Q96M89 ENTREZGENE
  V9GZ19_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q05DF1 UniProtKB/Swiss-Prot
  Q4ZG07 UniProtKB/Swiss-Prot
  Q53TE1 UniProtKB/Swiss-Prot
  Q6ZUY5 UniProtKB/Swiss-Prot
  Q86VL7 UniProtKB/Swiss-Prot