ZC3H12A (zinc finger CCCH-type containing 12A) - Rat Genome Database
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Gene: ZC3H12A (zinc finger CCCH-type containing 12A) Homo sapiens
Analyze
Symbol: ZC3H12A
Name: zinc finger CCCH-type containing 12A
RGD ID: 1602205
HGNC Page HGNC
Description: Exhibits chromatin binding activity; nucleic acid binding activity; and ribonuclease activity. Contributes to thiol-dependent ubiquitin-specific protease activity. Involved in several processes, including cellular response to cytokine stimulus; positive regulation of cellular metabolic process; and regulation of gene expression. Localizes to several cellular components, including P-body; cytoskeleton; and nucleoplasm. Implicated in hepatitis B.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bifunctional endoribonuclease and deubiquitinase ZC3H12A; dJ423B22.1; endoribonuclease ZC3H12A; FLJ23231; MCP induced protein 1; MCP-1 treatment-induced protein; MCP-induced protein 1; MCPIP; MCPIP-1; MCPIP1; monocyte chemotactic protein-induced protein 1; Reg1; regnase-1; ribonuclease ZC3H12A; RP3-423B22.1; zinc finger CCCH domain-containing protein 12A
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 Ensembl137,474,580 - 37,484,377 (+)EnsemblGRCh38hg38GRCh38
GRCh38137,474,518 - 37,484,377 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37137,940,181 - 37,949,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36137,712,706 - 37,722,565 (+)NCBINCBI36hg18NCBI36
Celera136,218,067 - 36,227,926 (+)NCBI
Cytogenetic Map1p34.3NCBI
HuRef136,057,283 - 36,067,022 (+)NCBIHuRef
CHM1_1138,056,246 - 38,066,105 (+)NCBICHM1_1
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

Biological Process
3'-UTR-mediated mRNA destabilization  (IBA,IDA,ISO,ISS)
angiogenesis  (IEA)
apoptotic process  (IEA)
cell differentiation  (IEA)
cellular response to chemokine  (IDA,ISO)
cellular response to DNA damage stimulus  (IMP)
cellular response to glucose starvation  (ISO,ISS)
cellular response to interleukin-1  (ISO,ISS)
cellular response to ionomycin  (ISO,ISS)
cellular response to lipopolysaccharide  (IDA,IMP,ISO)
cellular response to oxidative stress  (ISO,ISS)
cellular response to sodium arsenite  (ISO,ISS)
cellular response to tumor necrosis factor  (IDA)
cellular response to virus  (IDA)
defense response to virus  (IEA)
immune response-activating signal transduction  (IDA)
inflammatory response  (IEA)
negative regulation by host of viral genome replication  (IDA)
negative regulation of cardiac muscle contraction  (ISO,ISS)
negative regulation of cytokine production involved in inflammatory response  (ISO,ISS)
negative regulation of gene expression  (IDA,ISO)
negative regulation of I-kappaB kinase/NF-kappaB signaling  (IMP,ISO,ISS)
negative regulation of interferon-gamma production  (ISO,ISS)
negative regulation of interleukin-1 beta production  (ISO,ISS)
negative regulation of interleukin-6 production  (IDA,ISO,ISS)
negative regulation of macrophage activation  (IC)
negative regulation of muscle cell apoptotic process  (ISO,ISS)
negative regulation of NF-kappaB transcription factor activity  (IDA)
negative regulation of NIK/NF-kappaB signaling  (ISO,ISS)
negative regulation of nitric oxide biosynthetic process  (IDA,ISO)
negative regulation of production of miRNAs involved in gene silencing by miRNA  (IDA)
negative regulation of protein phosphorylation  (ISO,ISS)
negative regulation of T-helper 17 cell differentiation  (ISO,ISS)
negative regulation of tumor necrosis factor production  (IDA,ISO,ISS)
nervous system development  (IEA)
nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay  (IBA,ISO,ISS)
positive regulation of angiogenesis  (IDA,IMP)
positive regulation of autophagy  (IDA,ISO)
positive regulation of cell death  (IDA)
positive regulation of defense response to virus by host  (IDA)
positive regulation of endothelial cell migration  (IDA)
positive regulation of execution phase of apoptosis  (ISO,ISS)
positive regulation of fat cell differentiation  (IDA,ISO)
positive regulation of gene expression  (IDA)
positive regulation of lipid storage  (IDA,ISO)
positive regulation of miRNA catabolic process  (IDA)
positive regulation of mRNA catabolic process  (IDA,ISO,ISS)
positive regulation of p38MAPK cascade  (IDA)
positive regulation of protein deubiquitination  (IMP)
positive regulation of protein import into nucleus  (IDA)
positive regulation of reactive oxygen species metabolic process  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,ISO)
protein complex oligomerization  (IDA)
protein deubiquitination  (IDA)
protein phosphopantetheinylation  (IEA)
regulation of gene expression  (IDA)
RNA phosphodiester bond hydrolysis  (ISO,ISS)
RNA phosphodiester bond hydrolysis, endonucleolytic  (IBA,IDA,ISO)
RNA phosphodiester bond hydrolysis, exonucleolytic  (IEA)
T cell receptor signaling pathway  (ISO,ISS)
viral process  (IEA)

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15862967   PMID:16189514   PMID:16344560   PMID:16574901   PMID:18029348   PMID:18178554   PMID:18364357   PMID:19185603   PMID:19747262   PMID:19909337  
PMID:20807520   PMID:21115689   PMID:21873635   PMID:21900206   PMID:21903422   PMID:21971051   PMID:21988832   PMID:22055188   PMID:22132693   PMID:22196138   PMID:22739135   PMID:22820500  
PMID:23185455   PMID:23355615   PMID:23658019   PMID:24008336   PMID:24048733   PMID:24191027   PMID:24270572   PMID:25187114   PMID:25416956   PMID:25861989   PMID:25955820   PMID:26134560  
PMID:26308737   PMID:26315540   PMID:26329288   PMID:26399696   PMID:26450708   PMID:26617772   PMID:26673895   PMID:27044405   PMID:27075251   PMID:27107014   PMID:27180111   PMID:27322373  
PMID:27404795   PMID:27494113   PMID:27513529   PMID:27782836   PMID:27866190   PMID:27893764   PMID:27920272   PMID:27935099   PMID:28194024   PMID:28197812   PMID:28328949   PMID:28377026  
PMID:28475459   PMID:28716897   PMID:28892164   PMID:28939056   PMID:29054363   PMID:29103983   PMID:29379093   PMID:29471506   PMID:29509190   PMID:29545178   PMID:29551769   PMID:29742804  
PMID:29743536   PMID:29913212   PMID:29920243   PMID:30096769   PMID:30631045   PMID:30842549   PMID:30988100   PMID:31185306   PMID:31391242   PMID:31530713   PMID:31611552   PMID:31651935  
PMID:31816951   PMID:31893310   PMID:32296183   PMID:32548715  


Genomics

Comparative Map Data
ZC3H12A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl137,474,580 - 37,484,377 (+)EnsemblGRCh38hg38GRCh38
GRCh38137,474,518 - 37,484,377 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37137,940,181 - 37,949,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36137,712,706 - 37,722,565 (+)NCBINCBI36hg18NCBI36
Celera136,218,067 - 36,227,926 (+)NCBI
Cytogenetic Map1p34.3NCBI
HuRef136,057,283 - 36,067,022 (+)NCBIHuRef
CHM1_1138,056,246 - 38,066,105 (+)NCBICHM1_1
Zc3h12a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394125,012,207 - 125,021,674 (-)NCBIGRCm39mm39
GRCm39 Ensembl4125,012,216 - 125,021,633 (-)Ensembl
GRCm384125,118,414 - 125,127,881 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4125,118,423 - 125,127,840 (-)EnsemblGRCm38mm10GRCm38
MGSCv374124,795,658 - 124,805,125 (-)NCBIGRCm37mm9NCBIm37
MGSCv364124,620,727 - 124,630,144 (-)NCBImm8
Celera4123,439,822 - 123,449,288 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
Zc3h12a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25137,376,562 - 137,385,351 (-)NCBI
Rnor_6.0 Ensembl5143,111,074 - 143,120,165 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05143,111,342 - 143,120,131 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05146,878,968 - 146,887,760 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45144,457,753 - 144,467,275 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15144,468,090 - 144,476,486 (-)NCBI
Celera5135,894,447 - 135,903,150 (-)NCBICelera
Cytogenetic Map5q36NCBI
Zc3h12a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545215,305,775 - 15,314,959 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545215,306,398 - 15,314,959 (+)NCBIChiLan1.0ChiLan1.0
ZC3H12A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1138,093,036 - 38,103,556 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl138,093,917 - 38,103,556 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0136,743,341 - 36,753,261 (+)NCBIMhudiblu_PPA_v0panPan3
ZC3H12A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl154,972,956 - 4,980,371 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1154,972,369 - 4,984,218 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Zc3h12a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647419,714,145 - 19,722,512 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZC3H12A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl693,541,334 - 93,551,195 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1693,541,334 - 93,551,200 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ZC3H12A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12095,388,469 - 95,398,305 (-)NCBI
ChlSab1.1 Ensembl2095,388,477 - 95,397,960 (-)Ensembl
Zc3h12a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476420,224,919 - 20,234,108 (+)NCBI

Position Markers
RH104462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37137,941,006 - 37,941,127UniSTSGRCh37
Build 36137,713,593 - 37,713,714RGDNCBI36
Celera136,218,954 - 36,219,075RGD
Cytogenetic Map1p34.3UniSTS
HuRef136,058,050 - 36,058,171UniSTS
GeneMap99-GB4 RH Map1115.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:929
Count of miRNA genes:606
Interacting mature miRNAs:673
Transcripts:ENST00000373087, ENST00000471012, ENST00000472312
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.


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 pharyngeal arch
High 1
Medium 1781 2153 1030 384 1784 256 2857 865 521 178 972 1164 141 796 1801
Low 652 829 693 238 162 209 1497 1326 2747 240 476 444 31 408 987 4
Below cutoff 1 4 1 1 2 2 2 443 6 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK026884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY920403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR995909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA601465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ695517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373087   ⟹   ENSP00000362179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl137,474,580 - 37,484,377 (+)Ensembl
RefSeq Acc Id: ENST00000471012   ⟹   ENSP00000473447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl137,481,690 - 37,482,602 (+)Ensembl
RefSeq Acc Id: ENST00000472312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl137,479,999 - 37,481,762 (+)Ensembl
RefSeq Acc Id: ENST00000640233   ⟹   ENSP00000492053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl137,474,580 - 37,484,360 (+)Ensembl
RefSeq Acc Id: NM_001323550   ⟹   NP_001310479
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,580 - 37,484,377 (+)NCBI
CHM1_1138,056,246 - 38,066,105 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323551   ⟹   NP_001310480
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,580 - 37,484,377 (+)NCBI
CHM1_1138,056,246 - 38,066,105 (+)NCBI
Sequence:
RefSeq Acc Id: NM_025079   ⟹   NP_079355
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,580 - 37,484,377 (+)NCBI
GRCh37137,940,119 - 37,949,978 (+)RGD
Build 36137,712,706 - 37,722,565 (+)NCBI Archive
Celera136,218,067 - 36,227,926 (+)RGD
HuRef136,057,283 - 36,067,022 (+)ENTREZGENE
CHM1_1138,056,246 - 38,066,105 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542198   ⟹   XP_011540500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,518 - 37,484,377 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001737436
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,550 - 37,484,377 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079355   ⟸   NM_025079
- Peptide Label: isoform a
- UniProtKB: Q5D1E8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540500   ⟸   XM_011542198
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001310480   ⟸   NM_001323551
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001310479   ⟸   NM_001323550
- Peptide Label: isoform a
- UniProtKB: Q5D1E8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362179   ⟸   ENST00000373087
RefSeq Acc Id: ENSP00000492053   ⟸   ENST00000640233
RefSeq Acc Id: ENSP00000473447   ⟸   ENST00000471012
Protein Domains
RNase_Zc3h12a   UBA_6

Promoters
RGD ID:6855002
Promoter ID:EPDNEW_H665
Type:initiation region
Name:ZC3H12A_2
Description:zinc finger CCCH-type containing 12A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H666  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,428 - 37,474,488EPDNEW
RGD ID:6855004
Promoter ID:EPDNEW_H666
Type:multiple initiation site
Name:ZC3H12A_1
Description:zinc finger CCCH-type containing 12A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H665  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,474,580 - 37,474,640EPDNEW
RGD ID:6785362
Promoter ID:HG_KWN:2048
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:ENST00000373082,   NM_025079,   OTTHUMT00000012156,   OTTHUMT00000012168
Position:
Human AssemblyChrPosition (strand)Source
Build 36137,711,446 - 37,712,847 (+)MPROMDB
RGD ID:6787261
Promoter ID:HG_KWN:2049
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000012157,   UC001CBC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36137,717,191 - 37,718,122 (+)MPROMDB
RGD ID:6787260
Promoter ID:HG_KWN:2050
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000012158
Position:
Human AssemblyChrPosition (strand)Source
Build 36137,718,891 - 37,720,367 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3(chr1:37443860-37704418)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053658]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053658]|See cases [RCV000053658] Chr1:37443860..37704418 [GRCh38]
Chr1:37909461..38170090 [GRCh37]
Chr1:37682048..37942677 [NCBI36]
Chr1:1p34.3
benign
NM_025079.2(ZC3H12A):c.784G>A (p.Glu262Lys) single nucleotide variant Malignant melanoma [RCV000064753] Chr1:37481801 [GRCh38]
Chr1:37947402 [GRCh37]
Chr1:37719989 [NCBI36]
Chr1:1p34.3
not provided
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3 copy number gain See cases [RCV000511268] Chr1:37766562..38727114 [GRCh37]
Chr1:1p34.3
likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_025079.3(ZC3H12A):c.1524C>T (p.Ala508=) single nucleotide variant not provided [RCV000966748] Chr1:37483335 [GRCh38]
Chr1:37948936 [GRCh37]
Chr1:1p34.3
benign
NM_025079.3(ZC3H12A):c.718G>A (p.Val240Met) single nucleotide variant not provided [RCV000881142] Chr1:37481735 [GRCh38]
Chr1:37947336 [GRCh37]
Chr1:1p34.3
benign
NM_025079.3(ZC3H12A):c.299C>T (p.Pro100Leu) single nucleotide variant not provided [RCV000966747] Chr1:37475795 [GRCh38]
Chr1:37941396 [GRCh37]
Chr1:1p34.3
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26259 AgrOrtholog
COSMIC ZC3H12A COSMIC
Ensembl Genes ENSG00000163874 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362179 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473447 UniProtKB/TrEMBL
  ENSP00000492053 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373087 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000471012 UniProtKB/TrEMBL
  ENST00000640233 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000163874 GTEx
HGNC ID HGNC:26259 ENTREZGENE
Human Proteome Map ZC3H12A Human Proteome Map
InterPro Rege-1_UBA-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Regnase_1/ZC3H12_C UniProtKB/Swiss-Prot
  RNase_Zc3h12_NYN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80149 UniProtKB/Swiss-Prot
NCBI Gene 80149 ENTREZGENE
OMIM 610562 OMIM
Pfam Regnase_1_C UniProtKB/Swiss-Prot
  RNase_Zc3h12a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670537 PharmGKB
UniProt A0A1W2PQC8_HUMAN UniProtKB/TrEMBL
  C0LED9_HUMAN UniProtKB/TrEMBL
  Q5D1E8 ENTREZGENE
  R4GN17_HUMAN UniProtKB/TrEMBL
  ZC12A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DPT0 UniProtKB/Swiss-Prot
  Q6I9Z1 UniProtKB/Swiss-Prot
  Q9H5P1 UniProtKB/Swiss-Prot