CCL27 (C-C motif chemokine ligand 27) - Rat Genome Database

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Gene: CCL27 (C-C motif chemokine ligand 27) Homo sapiens
Analyze
Symbol: CCL27
Name: C-C motif chemokine ligand 27
RGD ID: 1312228
HGNC Page HGNC:10626
Description: Enables CCR3 chemokine receptor binding activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide. Predicted to be located in extracellular space. Predicted to be active in extracellular region. Biomarker of COVID-19; asthma; and atopic dermatitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALP; C-C motif chemokine 27; CC chemokine ILC; chemokine (C-C motif) ligand 27; CTACK; CTAK; cutaneous T-cell attracting chemokine; cutaneous T-cell-attracting chemokine; ESKINE; IL-11 R-alpha-locus chemokine; IL-11 Ralpha-locus chemokine; ILC; PESKY; SCYA27; skinkine; small inducible cytokine subfamily A (Cys-Cys), member 27; small-inducible cytokine A27
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
GRCh38934,661,890 - 34,662,657 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl934,661,880 - 34,664,048 (-)EnsemblGRCh38hg38GRCh38
GRCh37934,661,887 - 34,662,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,651,893 - 34,652,689 (-)NCBINCBI36Build 36hg18NCBI36
Build 34934,651,892 - 34,652,689NCBI
Celera934,593,364 - 34,594,160 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef934,616,175 - 34,616,971 (-)NCBIHuRef
CHM1_1934,661,676 - 34,662,472 (-)NCBICHM1_1
T2T-CHM13v2.0934,680,420 - 34,681,187 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. TARC and RANTES, but not CTACK, are induced in two models of allergic contact dermatitis. Effects of cilomilast and diflorasone diacetate on T-cell-attracting chemokines. Baumer W, etal., Br J Dermatol. 2004 Oct;151(4):823-30.
2. Phenotype of atopic dermatitis subjects with a history of eczema herpeticum. Beck LA, etal., J Allergy Clin Immunol. 2009 Aug;124(2):260-9, 269.e1-7. Epub 2009 Jun 27.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Increased serum cutaneous T cell-attracting chemokine (CCL27) levels in patients with atopic dermatitis and psoriasis vulgaris. Kakinuma T, etal., J Allergy Clin Immunol. 2003 Mar;111(3):592-7.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Plasma IP-10 and MCP-3 levels are highly associated with disease severity and predict the progression of COVID-19. Yang Y, etal., J Allergy Clin Immunol. 2020 Apr 29. pii: S0091-6749(20)30576-5. doi: 10.1016/j.jaci.2020.04.027.
Additional References at PubMed
PMID:8889548   PMID:10556532   PMID:10559234   PMID:10588729   PMID:10725696   PMID:10725697   PMID:11821893   PMID:11821900   PMID:12133963   PMID:12477932   PMID:12538707   PMID:14767451  
PMID:15335355   PMID:15466853   PMID:15598438   PMID:15679580   PMID:16433680   PMID:16675558   PMID:17581202   PMID:17703412   PMID:18025475   PMID:18240029   PMID:18266834   PMID:18453562  
PMID:18577758   PMID:18772332   PMID:19074885   PMID:19109182   PMID:19258923   PMID:19460752   PMID:19639049   PMID:19913121   PMID:20503287   PMID:20628086   PMID:21707761   PMID:21873635  
PMID:21993219   PMID:22017510   PMID:22526457   PMID:23670528   PMID:23980822   PMID:24037339   PMID:24710735   PMID:24970722   PMID:25539641   PMID:26295034   PMID:27193975   PMID:27325798  
PMID:27732933   PMID:27879026   PMID:28381538   PMID:28701399   PMID:29171092   PMID:29295705   PMID:36169116   PMID:36398464   PMID:37450610   PMID:38885591  


Genomics

Comparative Map Data
CCL27
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38934,661,890 - 34,662,657 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl934,661,880 - 34,664,048 (-)EnsemblGRCh38hg38GRCh38
GRCh37934,661,887 - 34,662,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,651,893 - 34,652,689 (-)NCBINCBI36Build 36hg18NCBI36
Build 34934,651,892 - 34,652,689NCBI
Celera934,593,364 - 34,594,160 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef934,616,175 - 34,616,971 (-)NCBIHuRef
CHM1_1934,661,676 - 34,662,472 (-)NCBICHM1_1
T2T-CHM13v2.0934,680,420 - 34,681,187 (-)NCBIT2T-CHM13v2.0
Ccl27a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,769,467 - 41,774,251 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl441,769,467 - 41,774,247 (-)EnsemblGRCm39 Ensembl
GRCm38441,769,467 - 41,774,225 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,769,467 - 41,774,247 (-)EnsemblGRCm38mm10GRCm38
MGSCv37441,716,340 - 41,721,049 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36441,957,989 - 41,958,723 (-)NCBIMGSCv36mm8
Celera441,430,271 - 41,436,891 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map422.08NCBI
Ccl27
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8561,737,261 - 61,744,375 (-)NCBIGRCr8
mRatBN7.2556,941,402 - 56,948,511 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl556,941,402 - 56,948,506 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx558,915,696 - 58,920,209 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0560,734,526 - 60,739,039 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0560,720,601 - 60,725,114 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0558,159,066 - 58,166,182 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,159,066 - 58,163,584 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,683,432 - 62,690,538 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,199,779 - 59,204,297 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1559,199,964 - 59,204,536 (-)NCBI
Celera555,533,557 - 55,538,075 (-)NCBICelera
Cytogenetic Map5q22NCBI
Ccl27
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,471,551 - 1,474,777 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,470,407 - 1,474,800 (+)NCBIChiLan1.0ChiLan1.0
CCL27
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21189,940,934 - 89,941,856 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1989,944,674 - 89,947,755 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0934,498,478 - 34,501,475 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1935,307,155 - 35,308,381 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,307,175 - 35,308,146 (-)Ensemblpanpan1.1panPan2
CCL27
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,334,870 - 51,338,752 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,334,778 - 51,335,591 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,963,044 - 49,963,744 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01152,275,429 - 52,276,129 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11150,938,131 - 50,938,831 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01150,806,277 - 50,806,977 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01151,571,050 - 51,571,750 (-)NCBIUU_Cfam_GSD_1.0
Ccl27
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,195,467 - 166,196,232 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365242,743,068 - 2,743,746 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365242,743,106 - 2,743,759 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCL27
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1032,138,232 - 32,138,974 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11032,138,232 - 32,138,980 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21036,274,970 - 36,278,822 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCL27
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,956,596 - 45,959,354 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1245,958,642 - 45,959,313 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603843,075,474 - 43,076,253 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccl27
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473639,055,726 - 39,057,630 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473639,055,705 - 39,056,722 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCL27
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_006664.4(CCL27):c.232A>G (p.Ile78Val) single nucleotide variant not provided [RCV000947165] Chr9:34662051 [GRCh38]
Chr9:34662048 [GRCh37]
Chr9:9p13.3		 benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.(?_34458994)_(35072710_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV001374141]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV001346193] Chr9:34458994..35072710 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4 copy number gain not specified [RCV002286368] Chr9:33492358..34725916 [GRCh38]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
NM_006664.4(CCL27):c.5A>C (p.Lys2Thr) single nucleotide variant not specified [RCV004299246] Chr9:34662629 [GRCh38]
Chr9:34662626 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p13.3(chr9:34247282-34986900)x4 copy number gain not provided [RCV002473496] Chr9:34247282..34986900 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_006664.4(CCL27):c.8G>A (p.Gly3Glu) single nucleotide variant not specified [RCV004190297] Chr9:34662626 [GRCh38]
Chr9:34662623 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_006664.4(CCL27):c.205C>T (p.Leu69Phe) single nucleotide variant not specified [RCV004180617] Chr9:34662078 [GRCh38]
Chr9:34662075 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_006664.4(CCL27):c.27C>A (p.Ser9Arg) single nucleotide variant not specified [RCV004172062] Chr9:34662607 [GRCh38]
Chr9:34662604 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_006664.4(CCL27):c.109C>T (p.Leu37Phe) single nucleotide variant not specified [RCV004430569] Chr9:34662378 [GRCh38]
Chr9:34662375 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_006664.4(CCL27):c.191T>G (p.Leu64Arg) single nucleotide variant not specified [RCV004430570] Chr9:34662296 [GRCh38]
Chr9:34662293 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_006664.4(CCL27):c.101G>A (p.Cys34Tyr) single nucleotide variant not specified [RCV004604767] Chr9:34662386 [GRCh38]
Chr9:34662383 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_33436037)_(37436779_?)del deletion Spastic paraplegia [RCV004581844] Chr9:33436037..37436779 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
NC_000009.11:g.(?_32453279)_(36276941_?)dup duplication not provided [RCV004582073] Chr9:32453279..36276941 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:354
Count of miRNA genes:245
Interacting mature miRNAs:253
Transcripts:ENST00000259631, ENST00000557161
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
SHGC-147142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,663,799 - 34,664,069UniSTSGRCh37
Build 36934,653,799 - 34,654,069RGDNCBI36
Celera934,595,270 - 34,595,540RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef934,618,080 - 34,618,350UniSTS
TNG Radiation Hybrid Map918576.0UniSTS
SHGC-35540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,661,562 - 34,661,780UniSTSGRCh37
Build 36934,651,562 - 34,651,780RGDNCBI36
Celera934,593,033 - 34,593,251RGD
Cytogenetic Map9p13UniSTS
HuRef934,615,844 - 34,616,062UniSTS
Stanford-G3 RH Map91488.0UniSTS
GeneMap99-GB4 RH Map9124.21UniSTS
Whitehead-RH Map9147.0UniSTS
NCBI RH Map9460.6UniSTS
GeneMap99-G3 RH Map91535.0UniSTS
STS-U32324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,661,509 - 34,661,630UniSTSGRCh37
Build 36934,651,509 - 34,651,630RGDNCBI36
Celera934,592,980 - 34,593,101RGD
Cytogenetic Map9p13UniSTS
HuRef934,615,791 - 34,615,912UniSTS
GeneMap99-GB4 RH Map9137.45UniSTS
NCBI RH Map9447.9UniSTS
UniSTS:483055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,661,914 - 34,662,674UniSTSGRCh37
Celera934,593,385 - 34,594,145UniSTS
HuRef934,616,196 - 34,616,956UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
1201 2210 2783 2190 4510 1422 1711 1 393 1082 231 1981 5676 5490 3554 513 1408 1234 162

Sequence


Ensembl Acc Id: ENST00000259631   ⟹   ENSP00000259631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,661,890 - 34,662,657 (-)Ensembl
Ensembl Acc Id: ENST00000557161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,661,880 - 34,664,048 (-)Ensembl
RefSeq Acc Id: NM_006664   ⟹   NP_006655
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,661,890 - 34,662,657 (-)NCBI
GRCh37934,661,893 - 34,662,689 (-)ENTREZGENE
Build 36934,651,893 - 34,652,689 (-)NCBI Archive
HuRef934,616,175 - 34,616,971 (-)ENTREZGENE
CHM1_1934,661,663 - 34,662,472 (-)NCBI
T2T-CHM13v2.0934,680,420 - 34,681,187 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006655   ⟸   NM_006664
- Peptide Label: precursor
- UniProtKB: Q9Y4X3 (UniProtKB/Swiss-Prot),   Q5VZ77 (UniProtKB/TrEMBL),   B2RWM4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000259631   ⟸   ENST00000259631
Protein Domains
Chemokine interleukin-8-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4X3-F1-model_v2 AlphaFold Q9Y4X3 1-112 view protein structure

Promoters
RGD ID:6807364
Promoter ID:HG_KWN:63029
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:NM_006664
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,653,346 - 34,653,846 (-)MPROMDB
RGD ID:7214943
Promoter ID:EPDNEW_H13217
Type:multiple initiation site
Name:CCL27_2
Description:C-C motif chemokine ligand 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13218  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,662,657 - 34,662,717EPDNEW
RGD ID:7214945
Promoter ID:EPDNEW_H13218
Type:initiation region
Name:CCL27_1
Description:C-C motif chemokine ligand 27
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13217  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,665,385 - 34,665,445EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10626 AgrOrtholog
COSMIC CCL27 COSMIC
Ensembl Genes ENSG00000213927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000259631 ENTREZGENE
  ENST00000259631.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213927 GTEx
HGNC ID HGNC:10626 ENTREZGENE
Human Proteome Map CCL27 Human Proteome Map
InterPro Chemokine_IL8-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interleukin_8-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10850 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10850 ENTREZGENE
OMIM 604833 OMIM
Pfam IL8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35558 PharmGKB
Superfamily-SCOP SSF54117 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RWM4 ENTREZGENE, UniProtKB/TrEMBL
  CCL27_HUMAN UniProtKB/Swiss-Prot
  Q5VZ77 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y4X3 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 CCL27  C-C motif chemokine ligand 27  CCL27  chemokine (C-C motif) ligand 27  Symbol and/or name change 5135510 APPROVED