CEBPZ (CCAAT enhancer binding protein zeta) - Rat Genome Database

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Gene: CEBPZ (CCAAT enhancer binding protein zeta) Homo sapiens
Analyze
Symbol: CEBPZ
Name: CCAAT enhancer binding protein zeta
RGD ID: 1312755
HGNC Page HGNC:24218
Description: Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CBF; CBF2; CCAAT-binding factor; CCAAT-binding transcription factor 2; CCAAT-box-binding transcription factor; CCAAT/enhancer binding protein (C/EBP), zeta; CCAAT/enhancer binding protein cebp family zeta; CCAAT/enhancer binding protein zeta; CCAAT/enhancer binding proteincebp* family zeta; CCAAT/enhancer-binding protein zeta; HSP-CBF; NOC1
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
NCBI Annotation Information: Note: CEBPZ (Gene ID: 10153) and DDIT3 (Gene ID: 1649) share the CEBPZ symbol/alias. CEBPZ is a widely used alternative name for DNA damage inducible transcript 3 (DDIT3), which can be confused with the official symbol for CEBPZ (CCAAT enhancer binding protein zeta, GeneID: 10153). [12 Nov 2020]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,201,612 - 37,231,596 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl237,201,612 - 37,231,596 (-)EnsemblGRCh38hg38GRCh38
GRCh37237,428,755 - 37,458,739 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36237,282,276 - 37,312,244 (-)NCBINCBI36Build 36hg18NCBI36
Build 34237,340,427 - 37,370,391NCBI
Celera237,269,769 - 37,299,695 (-)NCBICelera
Cytogenetic Map2p22.2NCBI
HuRef237,168,718 - 37,198,634 (-)NCBIHuRef
CHM1_1237,358,225 - 37,388,174 (-)NCBICHM1_1
T2T-CHM13v2.0237,208,702 - 37,238,637 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
genetic disease  (IAGP)
RASopathy  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2247079   PMID:8604343   PMID:11306579   PMID:11592063   PMID:11790298   PMID:12446671   PMID:12477932   PMID:12534345   PMID:15489334   PMID:15635413   PMID:15815621   PMID:16565220  
PMID:17081983   PMID:19274049   PMID:20211142   PMID:20810990   PMID:21873635   PMID:21900206   PMID:22139845   PMID:22586326   PMID:22658674   PMID:22681889   PMID:23752268   PMID:23974872  
PMID:24453475   PMID:24457600   PMID:24711643   PMID:24778252   PMID:24797263   PMID:24923295   PMID:24981860   PMID:25315684   PMID:25665578   PMID:25693804   PMID:25720964   PMID:25921289  
PMID:26186194   PMID:26344197   PMID:26460568   PMID:26496610   PMID:26638075   PMID:26725010   PMID:27634302   PMID:27684187   PMID:27880917   PMID:28298427   PMID:28514442   PMID:28515276  
PMID:28977666   PMID:28986522   PMID:29180619   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29509190   PMID:29513927   PMID:29568061   PMID:29955894   PMID:30021884   PMID:30344098  
PMID:30463901   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31300519   PMID:31527615   PMID:31586073   PMID:31741433   PMID:31871319  
PMID:32051553   PMID:32433965   PMID:32538781   PMID:32707033   PMID:32989298   PMID:33060197   PMID:33226137   PMID:33301849   PMID:33306668   PMID:33536335   PMID:33567341   PMID:33644029  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34315543   PMID:34373451   PMID:34578187   PMID:34672954   PMID:34709727   PMID:35013218   PMID:35253629   PMID:35439318  
PMID:35509820   PMID:35833506   PMID:35850772   PMID:35944360   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36537216   PMID:36574265  
PMID:36779763   PMID:36912080   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38280479  


Genomics

Comparative Map Data
CEBPZ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,201,612 - 37,231,596 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl237,201,612 - 37,231,596 (-)EnsemblGRCh38hg38GRCh38
GRCh37237,428,755 - 37,458,739 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36237,282,276 - 37,312,244 (-)NCBINCBI36Build 36hg18NCBI36
Build 34237,340,427 - 37,370,391NCBI
Celera237,269,769 - 37,299,695 (-)NCBICelera
Cytogenetic Map2p22.2NCBI
HuRef237,168,718 - 37,198,634 (-)NCBIHuRef
CHM1_1237,358,225 - 37,388,174 (-)NCBICHM1_1
T2T-CHM13v2.0237,208,702 - 37,238,637 (-)NCBIT2T-CHM13v2.0
Cebpz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391779,226,432 - 79,244,499 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1779,226,435 - 79,244,495 (-)EnsemblGRCm39 Ensembl
GRCm381778,919,003 - 78,937,070 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1778,919,006 - 78,937,066 (-)EnsemblGRCm38mm10GRCm38
MGSCv371779,318,343 - 79,336,410 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361778,824,297 - 78,842,125 (-)NCBIMGSCv36mm8
Celera1783,237,268 - 83,257,640 (-)NCBICelera
Cytogenetic Map17E3NCBI
cM Map1749.65NCBI
Cebpz
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8621,872,071 - 21,889,755 (+)NCBIGRCr8
mRatBN7.2616,119,871 - 16,137,600 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl616,119,872 - 16,137,600 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx616,435,347 - 16,452,948 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0616,757,557 - 16,775,158 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0616,237,982 - 16,255,559 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.061,516,804 - 1,534,488 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl61,516,804 - 1,534,488 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.061,506,913 - 1,524,597 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.461,698,162 - 1,715,846 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.161,699,016 - 1,715,835 (-)NCBI
Celera615,784,628 - 15,802,293 (+)NCBICelera
Cytogenetic Map6q12NCBI
Cebpz
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554415,013,144 - 5,033,830 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554415,013,144 - 5,033,830 (-)NCBIChiLan1.0ChiLan1.0
CEBPZ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21289,248,010 - 89,276,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A89,251,994 - 89,280,843 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A37,230,245 - 37,259,113 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A37,995,123 - 38,023,965 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A37,995,123 - 38,023,965 (-)Ensemblpanpan1.1panPan2
CEBPZ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11729,565,712 - 29,584,789 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1729,565,722 - 29,584,874 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1729,379,352 - 29,398,593 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01730,215,309 - 30,234,551 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1730,215,214 - 30,234,495 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11729,442,642 - 29,461,854 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01729,505,770 - 29,525,454 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01729,723,995 - 29,743,236 (-)NCBIUU_Cfam_GSD_1.0
Cebpz
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629242,396,743 - 42,416,376 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366631,061,472 - 1,086,020 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366631,062,248 - 1,081,598 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEBPZ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3102,964,240 - 102,989,243 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13102,964,213 - 102,988,664 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23109,397,935 - 109,422,194 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CEBPZ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11470,161,111 - 70,189,757 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1470,161,155 - 70,190,506 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604541,759,168 - 41,786,928 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cebpz
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473818,819,428 - 18,836,468 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473818,819,238 - 18,836,517 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEBPZ
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3 copy number gain See cases [RCV000050907] Chr2:36809304..38309455 [GRCh38]
Chr2:37036447..38536597 [GRCh37]
Chr2:36889951..38390101 [NCBI36]
Chr2:2p22.2-22.1		 uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21		 pathogenic
NM_005760.2(CEBPZ):c.2060T>C (p.Leu687Ser) single nucleotide variant Malignant melanoma [RCV000065583] Chr2:37222385 [GRCh38]
Chr2:37449528 [GRCh37]
Chr2:37303032 [NCBI36]
Chr2:2p22.2		 not provided
NM_005760.2(CEBPZ):c.2018C>T (p.Thr673Ile) single nucleotide variant Malignant melanoma [RCV000065584] Chr2:37222427 [GRCh38]
Chr2:37449570 [GRCh37]
Chr2:37303074 [NCBI36]
Chr2:2p22.2		 not provided
NM_005760.3(CEBPZ):c.639T>G (p.Tyr213Ter) single nucleotide variant not provided [RCV000122526] Chr2:37228554 [GRCh38]
Chr2:37455697 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21		 pathogenic
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 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005760.3(CEBPZ):c.22T>G (p.Leu8Val) single nucleotide variant Inborn genetic diseases [RCV003255130] Chr2:37231546 [GRCh38]
Chr2:37458689 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1498G>A (p.Gly500Ser) single nucleotide variant Inborn genetic diseases [RCV003287949] Chr2:37227695 [GRCh38]
Chr2:37454838 [GRCh37]
Chr2:2p22.2		 uncertain significance
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NM_005760.3(CEBPZ):c.620C>T (p.Thr207Ile) single nucleotide variant Inborn genetic diseases [RCV003272876] Chr2:37228573 [GRCh38]
Chr2:37455716 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2318C>G (p.Thr773Arg) single nucleotide variant Inborn genetic diseases [RCV003243849] Chr2:37216202 [GRCh38]
Chr2:37443345 [GRCh37]
Chr2:2p22.2		 uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 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 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 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_005760.3(CEBPZ):c.433C>T (p.Pro145Ser) single nucleotide variant Inborn genetic diseases [RCV003245403] Chr2:37228760 [GRCh38]
Chr2:37455903 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.936T>C (p.Phe312=) single nucleotide variant not provided [RCV000939435] Chr2:37228257 [GRCh38]
Chr2:37455400 [GRCh37]
Chr2:2p22.2		 likely benign
NM_005760.3(CEBPZ):c.160G>T (p.Asp54Tyr) single nucleotide variant Inborn genetic diseases [RCV003249637] Chr2:37229033 [GRCh38]
Chr2:37456176 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.-1C>T single nucleotide variant not provided [RCV001669832] Chr2:37231568 [GRCh38]
Chr2:37458711 [GRCh37]
Chr2:2p22.2		 benign
NM_005760.3(CEBPZ):c.43C>T (p.Pro15Ser) single nucleotide variant not provided [RCV001713414] Chr2:37231525 [GRCh38]
Chr2:37458668 [GRCh37]
Chr2:2p22.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21		 likely pathogenic
GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1 copy number loss See cases [RCV000139443] Chr2:37000557..41954686 [GRCh38]
Chr2:37227700..42181826 [GRCh37]
Chr2:37081204..42035330 [NCBI36]
Chr2:2p22.2-21		 pathogenic
GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3 copy number gain not provided [RCV001259149] Chr2:36432453..38182274 [GRCh37]
Chr2:2p22.3-22.2		 uncertain significance
NM_005760.3(CEBPZ):c.57G>C (p.Glu19Asp) single nucleotide variant not provided [RCV001766317] Chr2:37231511 [GRCh38]
Chr2:37458654 [GRCh37]
Chr2:2p22.2		 likely benign
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) copy number loss not specified [RCV002053089] Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NC_000002.11:g.(?_37334416)_(39347563_?)dup duplication RASopathy [RCV003116408] Chr2:37334416..39347563 [GRCh37]
Chr2:2p22.2-22.1		 pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_005760.3(CEBPZ):c.2636A>G (p.Asp879Gly) single nucleotide variant Inborn genetic diseases [RCV002771895] Chr2:37212007 [GRCh38]
Chr2:37439150 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2098A>G (p.Ser700Gly) single nucleotide variant Inborn genetic diseases [RCV002993142] Chr2:37220441 [GRCh38]
Chr2:37447584 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1237C>T (p.His413Tyr) single nucleotide variant Inborn genetic diseases [RCV002727957] Chr2:37227956 [GRCh38]
Chr2:37455099 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2032G>A (p.Val678Ile) single nucleotide variant Inborn genetic diseases [RCV002688144] Chr2:37222413 [GRCh38]
Chr2:37449556 [GRCh37]
Chr2:2p22.2		 likely benign
NM_005760.3(CEBPZ):c.412A>G (p.Lys138Glu) single nucleotide variant Inborn genetic diseases [RCV002865362] Chr2:37228781 [GRCh38]
Chr2:37455924 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.593C>G (p.Pro198Arg) single nucleotide variant Inborn genetic diseases [RCV002688100] Chr2:37228600 [GRCh38]
Chr2:37455743 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.3108A>C (p.Lys1036Asn) single nucleotide variant Inborn genetic diseases [RCV002870276] Chr2:37201821 [GRCh38]
Chr2:37428964 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2179G>A (p.Val727Met) single nucleotide variant Inborn genetic diseases [RCV002981674] Chr2:37217013 [GRCh38]
Chr2:37444156 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.757C>A (p.Leu253Ile) single nucleotide variant Inborn genetic diseases [RCV002981395] Chr2:37228436 [GRCh38]
Chr2:37455579 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.396A>C (p.Gln132His) single nucleotide variant Inborn genetic diseases [RCV002912038] Chr2:37228797 [GRCh38]
Chr2:37455940 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.7G>T (p.Ala3Ser) single nucleotide variant Inborn genetic diseases [RCV002783246] Chr2:37231561 [GRCh38]
Chr2:37458704 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2990T>C (p.Ile997Thr) single nucleotide variant Inborn genetic diseases [RCV002822424] Chr2:37202819 [GRCh38]
Chr2:37429962 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2244G>C (p.Gln748His) single nucleotide variant Inborn genetic diseases [RCV002799433] Chr2:37216383 [GRCh38]
Chr2:37443526 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2997G>A (p.Met999Ile) single nucleotide variant Inborn genetic diseases [RCV002744510] Chr2:37202812 [GRCh38]
Chr2:37429955 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2847A>C (p.Lys949Asn) single nucleotide variant Inborn genetic diseases [RCV002853612] Chr2:37211036 [GRCh38]
Chr2:37438179 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1694T>C (p.Met565Thr) single nucleotide variant Inborn genetic diseases [RCV002664706] Chr2:37223357 [GRCh38]
Chr2:37450500 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2716A>G (p.Met906Val) single nucleotide variant Inborn genetic diseases [RCV002981935] Chr2:37211927 [GRCh38]
Chr2:37439070 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1102G>C (p.Val368Leu) single nucleotide variant Inborn genetic diseases [RCV002854222] Chr2:37228091 [GRCh38]
Chr2:37455234 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.97A>T (p.Thr33Ser) single nucleotide variant Inborn genetic diseases [RCV002787563] Chr2:37231471 [GRCh38]
Chr2:37458614 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1567A>G (p.Ser523Gly) single nucleotide variant Inborn genetic diseases [RCV002891604] Chr2:37227626 [GRCh38]
Chr2:37454769 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.803C>T (p.Thr268Ile) single nucleotide variant Inborn genetic diseases [RCV002854993] Chr2:37228390 [GRCh38]
Chr2:37455533 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.817G>A (p.Val273Ile) single nucleotide variant Inborn genetic diseases [RCV002813537] Chr2:37228376 [GRCh38]
Chr2:37455519 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.923G>T (p.Ser308Ile) single nucleotide variant Inborn genetic diseases [RCV002718570] Chr2:37228270 [GRCh38]
Chr2:37455413 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.578C>A (p.Ser193Tyr) single nucleotide variant Inborn genetic diseases [RCV002936702] Chr2:37228615 [GRCh38]
Chr2:37455758 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2089G>A (p.Asp697Asn) single nucleotide variant Inborn genetic diseases [RCV002835840] Chr2:37220450 [GRCh38]
Chr2:37447593 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.229G>A (p.Asp77Asn) single nucleotide variant Inborn genetic diseases [RCV002680346] Chr2:37228964 [GRCh38]
Chr2:37456107 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.556C>G (p.Leu186Val) single nucleotide variant Inborn genetic diseases [RCV003220748] Chr2:37228637 [GRCh38]
Chr2:37455780 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1907T>C (p.Ile636Thr) single nucleotide variant Inborn genetic diseases [RCV003190325] Chr2:37222538 [GRCh38]
Chr2:37449681 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.989T>G (p.Leu330Arg) single nucleotide variant Inborn genetic diseases [RCV003201036] Chr2:37228204 [GRCh38]
Chr2:37455347 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2425G>A (p.Val809Met) single nucleotide variant Inborn genetic diseases [RCV003212499] Chr2:37214908 [GRCh38]
Chr2:37442051 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.3122A>G (p.Lys1041Arg) single nucleotide variant Inborn genetic diseases [RCV003193939] Chr2:37201807 [GRCh38]
Chr2:37428950 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.418A>G (p.Lys140Glu) single nucleotide variant Inborn genetic diseases [RCV003343177] Chr2:37228775 [GRCh38]
Chr2:37455918 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.871G>C (p.Glu291Gln) single nucleotide variant Inborn genetic diseases [RCV003381474] Chr2:37228322 [GRCh38]
Chr2:37455465 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.961G>C (p.Gly321Arg) single nucleotide variant Inborn genetic diseases [RCV003374268] Chr2:37228232 [GRCh38]
Chr2:37455375 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2587G>A (p.Asp863Asn) single nucleotide variant Inborn genetic diseases [RCV003378205] Chr2:37212351 [GRCh38]
Chr2:37439494 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2655T>G (p.Asp885Glu) single nucleotide variant Inborn genetic diseases [RCV003349158] Chr2:37211988 [GRCh38]
Chr2:37439131 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1102G>A (p.Val368Met) single nucleotide variant Inborn genetic diseases [RCV003350266] Chr2:37228091 [GRCh38]
Chr2:37455234 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2635G>A (p.Asp879Asn) single nucleotide variant Inborn genetic diseases [RCV003375877] Chr2:37212008 [GRCh38]
Chr2:37439151 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.1281A>G (p.Leu427=) single nucleotide variant not provided [RCV003425580] Chr2:37227912 [GRCh38]
Chr2:37455055 [GRCh37]
Chr2:2p22.2		 likely benign
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 copy number loss not specified [RCV003986376] Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21		 pathogenic
GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3 copy number gain not specified [RCV003986348] Chr2:36971076..38294436 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.212G>A (p.Gly71Asp) single nucleotide variant Inborn genetic diseases [RCV003344534] Chr2:37228981 [GRCh38]
Chr2:37456124 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_005760.3(CEBPZ):c.2369G>A (p.Arg790His) single nucleotide variant Inborn genetic diseases [RCV003340165] Chr2:37216151 [GRCh38]
Chr2:37443294 [GRCh37]
Chr2:2p22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:244
Count of miRNA genes:179
Interacting mature miRNAs:188
Transcripts:ENST00000234170, ENST00000446769, ENST00000489306
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.

Markers in Region
D2S1925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,431,742 - 37,431,836UniSTSGRCh37
Build 36237,285,246 - 37,285,340RGDNCBI36
Celera237,272,716 - 37,272,810RGD
Cytogenetic Map2p22UniSTS
Cytogenetic Map2p22.2UniSTS
HuRef237,171,665 - 37,171,759UniSTS
RH70208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,454,517 - 37,454,645UniSTSGRCh37
Build 36237,308,021 - 37,308,149RGDNCBI36
Celera237,295,472 - 37,295,600RGD
Cytogenetic Map2p22.2UniSTS
HuRef237,194,411 - 37,194,539UniSTS
GeneMap99-GB4 RH Map2117.33UniSTS
NCBI RH Map2273.5UniSTS
SHGC-56390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,430,277 - 37,430,408UniSTSGRCh37
Build 36237,283,781 - 37,283,912RGDNCBI36
Celera237,271,252 - 37,271,383RGD
Cytogenetic Map2p22UniSTS
Cytogenetic Map2p22.2UniSTS
HuRef237,170,201 - 37,170,332UniSTS
TNG Radiation Hybrid Map226128.0UniSTS
RH70014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,431,148 - 37,431,322UniSTSGRCh37
Build 36237,284,652 - 37,284,826RGDNCBI36
Celera237,272,123 - 37,272,297RGD
Cytogenetic Map2p22UniSTS
Cytogenetic Map2p22.2UniSTS
HuRef237,171,072 - 37,171,246UniSTS
GeneMap99-GB4 RH Map2117.33UniSTS
NCBI RH Map2273.5UniSTS
SHGC-32572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,429,186 - 37,429,310UniSTSGRCh37
Build 36237,282,690 - 37,282,814RGDNCBI36
Celera237,270,183 - 37,270,307RGD
Cytogenetic Map2p22UniSTS
Cytogenetic Map2p22.2UniSTS
HuRef237,169,132 - 37,169,256UniSTS
GeneMap99-GB4 RH Map2117.33UniSTS
Whitehead-RH Map2177.8UniSTS
NCBI RH Map2273.5UniSTS
GeneMap99-G3 RH Map21596.0UniSTS
SHGC-35993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,454,347 - 37,454,483UniSTSGRCh37
Build 36237,307,851 - 37,307,987RGDNCBI36
Celera237,295,302 - 37,295,438RGD
Cytogenetic Map2p22.2UniSTS
HuRef237,194,241 - 37,194,377UniSTS
TNG Radiation Hybrid Map226177.0UniSTS
GeneMap99-G3 RH Map21596.0UniSTS
MARC_16193-16194:1033403679:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,428,996 - 37,429,976UniSTSGRCh37
Celera237,269,993 - 37,270,951UniSTS
HuRef237,168,942 - 37,169,900UniSTS


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 2280 1739 1491 421 1291 267 4262 1755 2195 342 1407 1602 167 1202 2737 4
Low 152 1230 232 201 643 197 93 437 1514 76 42 6 4 2 51
Below cutoff 15 2 14 1 4 2 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000234170   ⟹   ENSP00000234170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,201,612 - 37,231,596 (-)Ensembl
RefSeq Acc Id: ENST00000446769   ⟹   ENSP00000391881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,228,608 - 37,231,369 (-)Ensembl
RefSeq Acc Id: ENST00000489306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,201,784 - 37,212,108 (-)Ensembl
RefSeq Acc Id: NM_005760   ⟹   NP_005751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,201,612 - 37,231,596 (-)NCBI
GRCh37237,428,772 - 37,458,740 (-)RGD
Build 36237,282,276 - 37,312,244 (-)NCBI Archive
Celera237,269,769 - 37,299,695 (-)RGD
HuRef237,168,718 - 37,198,634 (-)RGD
CHM1_1237,358,225 - 37,388,174 (-)NCBI
T2T-CHM13v2.0237,208,702 - 37,238,637 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005751 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51924 (Get FASTA)   NCBI Sequence Viewer  
  AAH34475 (Get FASTA)   NCBI Sequence Viewer  
  AAY14815 (Get FASTA)   NCBI Sequence Viewer  
  BAG35244 (Get FASTA)   NCBI Sequence Viewer  
  EAX00403 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000234170
  ENSP00000234170.5
  ENSP00000391881.1
GenBank Protein Q03701 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005751   ⟸   NM_005760
- UniProtKB: Q8NE75 (UniProtKB/Swiss-Prot),   Q03701 (UniProtKB/Swiss-Prot),   B2R5U7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000234170   ⟸   ENST00000234170
RefSeq Acc Id: ENSP00000391881   ⟸   ENST00000446769
Protein Domains
CCAAT-binding factor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03701-F1-model_v2 AlphaFold Q03701 1-1054 view protein structure

Promoters
RGD ID:6860102
Promoter ID:EPDNEW_H3216
Type:initiation region
Name:CEBPZ_1
Description:CCAAT/enhancer binding protein zeta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3218  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,579 - 37,231,639EPDNEW
RGD ID:6860106
Promoter ID:EPDNEW_H3218
Type:initiation region
Name:CEBPZ_2
Description:CCAAT/enhancer binding protein zeta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3216  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,231,953 - 37,232,013EPDNEW
RGD ID:6796968
Promoter ID:HG_KWN:32220
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000218569,   OTTHUMT00000325569
Position:
Human AssemblyChrPosition (strand)Source
Build 36237,312,116 - 37,312,997 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24218 AgrOrtholog
COSMIC CEBPZ COSMIC
Ensembl Genes ENSG00000115816 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000234170 ENTREZGENE
  ENST00000234170.10 UniProtKB/Swiss-Prot
  ENST00000446769.1 UniProtKB/TrEMBL
GTEx ENSG00000115816 GTEx
HGNC ID HGNC:24218 ENTREZGENE
Human Proteome Map CEBPZ Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCAAT-binding_factor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CEBPZ/Mak21-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10153 UniProtKB/Swiss-Prot
NCBI Gene 10153 ENTREZGENE
OMIM 612828 OMIM
PANTHER CCAAT-BINDING FACTOR-RELATED UniProtKB/TrEMBL
  CCAAT/ENHANCER-BINDING PROTEIN ZETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12048 UniProtKB/Swiss-Prot
Pfam CBF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134977051 PharmGKB
Superfamily-SCOP ARM repeat UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B2R5U7 ENTREZGENE, UniProtKB/TrEMBL
  C9J9W7_HUMAN UniProtKB/TrEMBL
  CEBPZ_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NE75 ENTREZGENE
UniProt Secondary Q8NE75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 CEBPZ  CCAAT enhancer binding protein zeta    CCAAT/enhancer binding protein zeta  Symbol and/or name change 5135510 APPROVED
2016-01-12 CEBPZ  CCAAT/enhancer binding protein zeta    CCAAT/enhancer binding protein (C/EBP), zeta  Symbol and/or name change 5135510 APPROVED