ZNF514 (zinc finger protein 514) - Rat Genome Database

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Gene: ZNF514 (zinc finger protein 514) Homo sapiens
Analyze
Symbol: ZNF514
Name: zinc finger protein 514
RGD ID: 1347182
HGNC Page HGNC:25894
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC126229; MGC126230
RGD Orthologs
Mouse
Chinchilla
Bonobo
Dog
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
GRCh38295,123,105 - 95,159,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl295,122,087 - 95,165,668 (-)EnsemblGRCh38hg38GRCh38
GRCh37295,810,745 - 95,825,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36295,177,127 - 95,188,990 (-)NCBINCBI36Build 36hg18NCBI36
Build 34295,235,273 - 95,247,137NCBI
Celera290,164,380 - 90,176,243 (-)NCBICelera
Cytogenetic Map2q11.1NCBI
HuRef289,842,309 - 89,852,095 (-)NCBIHuRef
CHM1_1295,817,633 - 95,829,496 (-)NCBICHM1_1
T2T-CHM13v2.0295,629,488 - 95,666,330 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
nucleus  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15815621   PMID:16344560   PMID:21873635   PMID:23602568   PMID:24981860   PMID:33961781  


Genomics

Comparative Map Data
ZNF514
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38295,123,105 - 95,159,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl295,122,087 - 95,165,668 (-)EnsemblGRCh38hg38GRCh38
GRCh37295,810,745 - 95,825,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36295,177,127 - 95,188,990 (-)NCBINCBI36Build 36hg18NCBI36
Build 34295,235,273 - 95,247,137NCBI
Celera290,164,380 - 90,176,243 (-)NCBICelera
Cytogenetic Map2q11.1NCBI
HuRef289,842,309 - 89,852,095 (-)NCBIHuRef
CHM1_1295,817,633 - 95,829,496 (-)NCBICHM1_1
T2T-CHM13v2.0295,629,488 - 95,666,330 (-)NCBIT2T-CHM13v2.0
Gm6020
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391961,140,302 - 61,173,096 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1961,172,328 - 61,172,393 (+)EnsemblGRCm39 Ensembl
GRCm381961,151,864 - 61,184,658 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1961,183,890 - 61,183,955 (+)EnsemblGRCm38mm10GRCm38
MGSCv371961,227,767 - 61,260,561 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361961,206,527 - 61,238,904 (+)NCBIMGSCv36mm8
Celera1963,354,456 - 63,380,301 (+)NCBICelera
Cytogenetic Map19D3NCBI
cM Map1956.81NCBI
Znf514
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554703,452,342 - 3,459,974 (-)NCBIChiLan1.0ChiLan1.0
ZNF514
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21233,137,162 - 33,174,106 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A33,139,925 - 33,154,788 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A104,248,540 - 104,284,224 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A96,047,589 - 96,062,270 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A96,047,595 - 96,062,270 (-)Ensemblpanpan1.1panPan2
LOC611670
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11734,901,115 - 34,926,545 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1734,906,174 - 34,915,972 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1734,674,461 - 34,695,180 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01735,676,903 - 35,697,635 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1735,676,893 - 35,690,727 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11734,804,971 - 34,825,696 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01734,874,126 - 34,894,672 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01735,083,406 - 35,103,977 (+)NCBIUU_Cfam_GSD_1.0
ZNF514
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl346,111,102 - 46,125,718 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1346,109,918 - 46,123,303 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2348,139,199 - 48,149,398 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF514
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114182,262 - 203,644 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041167,583,054 - 167,606,836 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znf514
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247491,943,483 - 1,957,357 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF514
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3 copy number gain See cases [RCV000137332] Chr2:94751190..95675040 [GRCh38]
Chr2:95618109..96340788 [GRCh37]
Chr2:94780662..95704515 [NCBI36]
Chr2:2q11.1		 likely benign
GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1 copy number loss See cases [RCV000137372] Chr2:95134069..95493527 [GRCh38]
Chr2:95799814..96159275 [GRCh37]
Chr2:95163541..95523002 [NCBI36]
Chr2:2q11.1		 uncertain significance
GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3 copy number gain See cases [RCV000141052] Chr2:95079592..95408265 [GRCh38]
Chr2:95745337..96074013 [GRCh37]
Chr2:95109064..95437740 [NCBI36]
Chr2:2q11.1		 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 2q11.1(chr2:95143653-95431499)x1 copy number loss See cases [RCV000143641] Chr2:95143653..95431499 [GRCh38]
Chr2:95809398..96097247 [GRCh37]
Chr2:95173125..95460974 [NCBI36]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3 copy number gain Premature ovarian failure [RCV000225112] Chr2:95444917..95977790 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3		 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 2q11.1-11.2(chr2:95691600-100587394) copy number gain See cases [RCV000447723] Chr2:95691600..100587394 [GRCh37]
Chr2:2q11.1-11.2		 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 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2		 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 2q11.1(chr2:95341387-96719347)x1 copy number loss not provided [RCV000682128] Chr2:95341387..96719347 [GRCh37]
Chr2:2q11.1		 uncertain significance
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely 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 2q11.1(chr2:95800306-96097247)x1 copy number loss not provided [RCV000849837] Chr2:95800306..96097247 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3 copy number gain not provided [RCV000848612] Chr2:95476818..96193825 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 copy number gain not provided [RCV002473932] Chr2:95341388..100340514 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
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
GRCh37/hg19 2q11.1(chr2:95341387-96735978) copy number loss not specified [RCV002053206] Chr2:95341387..96735978 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3 copy number gain not provided [RCV001827836] Chr2:95341686..96193214 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3 copy number gain not provided [RCV002474895] Chr2:95777121..96248568 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.349T>G (p.Cys117Gly) single nucleotide variant Inborn genetic diseases [RCV002997793] Chr2:95150136 [GRCh38]
Chr2:95815881 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.1023G>T (p.Glu341Asp) single nucleotide variant Inborn genetic diseases [RCV002860629] Chr2:95149462 [GRCh38]
Chr2:95815207 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.710G>A (p.Cys237Tyr) single nucleotide variant Inborn genetic diseases [RCV002946483] Chr2:95149775 [GRCh38]
Chr2:95815520 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.497T>C (p.Leu166Pro) single nucleotide variant Inborn genetic diseases [RCV002981451] Chr2:95149988 [GRCh38]
Chr2:95815733 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.150C>G (p.Ile50Met) single nucleotide variant Inborn genetic diseases [RCV002691501] Chr2:95152741 [GRCh38]
Chr2:95818486 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.452A>G (p.Tyr151Cys) single nucleotide variant Inborn genetic diseases [RCV002919470] Chr2:95150033 [GRCh38]
Chr2:95815778 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.384A>G (p.Ile128Met) single nucleotide variant Inborn genetic diseases [RCV002916041] Chr2:95150101 [GRCh38]
Chr2:95815846 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.662G>A (p.Arg221His) single nucleotide variant Inborn genetic diseases [RCV002955629] Chr2:95149823 [GRCh38]
Chr2:95815568 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.520A>C (p.Met174Leu) single nucleotide variant Inborn genetic diseases [RCV002813079] Chr2:95149965 [GRCh38]
Chr2:95815710 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.953G>A (p.Cys318Tyr) single nucleotide variant Inborn genetic diseases [RCV002919882] Chr2:95149532 [GRCh38]
Chr2:95815277 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.1145C>T (p.Ala382Val) single nucleotide variant Inborn genetic diseases [RCV002836406] Chr2:95149340 [GRCh38]
Chr2:95815085 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.332C>T (p.Ser111Leu) single nucleotide variant Inborn genetic diseases [RCV002649261] Chr2:95150153 [GRCh38]
Chr2:95815898 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.448G>A (p.Asp150Asn) single nucleotide variant Inborn genetic diseases [RCV003193215] Chr2:95150037 [GRCh38]
Chr2:95815782 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.331T>C (p.Ser111Pro) single nucleotide variant Inborn genetic diseases [RCV003211818] Chr2:95150154 [GRCh38]
Chr2:95815899 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.142T>C (p.Tyr48His) single nucleotide variant Inborn genetic diseases [RCV003204473] Chr2:95152749 [GRCh38]
Chr2:95818494 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.199T>C (p.Ser67Pro) single nucleotide variant Inborn genetic diseases [RCV003345352] Chr2:95152692 [GRCh38]
Chr2:95818437 [GRCh37]
Chr2:2q11.1		 uncertain significance
NM_032788.3(ZNF514):c.853G>C (p.Glu285Gln) single nucleotide variant Inborn genetic diseases [RCV003347569] Chr2:95149632 [GRCh38]
Chr2:95815377 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3 copy number gain not provided [RCV003484068] Chr2:95341687..96259199 [GRCh37]
Chr2:2q11.1		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 copy number gain not provided [RCV003484069] Chr2:95773428..102550061 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1531
Count of miRNA genes:612
Interacting mature miRNAs:668
Transcripts:ENST00000295208, ENST00000411425, ENST00000447814, ENST00000496060
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1763 1247 1065 154 478 28 2821 856 1815 112 1117 1225 131 877 1765 2
Low 676 1650 658 467 1378 434 1536 1341 1918 307 343 388 43 1 327 1023 4 2
Below cutoff 94 3 3 95 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007083281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007083290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007083314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI694922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX881891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA757737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA794017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295208   ⟹   ENSP00000295208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,145,000 - 95,159,848 (-)Ensembl
RefSeq Acc Id: ENST00000411425   ⟹   ENSP00000405509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,148,303 - 95,159,337 (-)Ensembl
RefSeq Acc Id: ENST00000447814   ⟹   ENSP00000399647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,152,726 - 95,165,413 (-)Ensembl
RefSeq Acc Id: ENST00000496060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,147,330 - 95,155,691 (-)Ensembl
RefSeq Acc Id: ENST00000695481   ⟹   ENSP00000511953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,147,673 - 95,165,668 (-)Ensembl
RefSeq Acc Id: ENST00000698720   ⟹   ENSP00000513894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,122,087 - 95,159,366 (-)Ensembl
RefSeq Acc Id: ENST00000698721   ⟹   ENSP00000513895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,123,508 - 95,159,481 (-)Ensembl
RefSeq Acc Id: ENST00000698722   ⟹   ENSP00000513896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,130,140 - 95,165,391 (-)Ensembl
RefSeq Acc Id: ENST00000698723   ⟹   ENSP00000513897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl295,145,042 - 95,159,539 (-)Ensembl
RefSeq Acc Id: NM_001318005   ⟹   NP_001304934
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,145,000 - 95,159,585 (-)NCBI
CHM1_1295,814,978 - 95,829,563 (-)NCBI
T2T-CHM13v2.0295,651,504 - 95,666,090 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032788   ⟹   NP_116177
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,145,000 - 95,159,848 (-)NCBI
GRCh37295,813,400 - 95,825,322 (-)NCBI
Build 36295,177,127 - 95,188,990 (-)NCBI Archive
Celera290,164,380 - 90,176,243 (-)RGD
HuRef289,842,309 - 89,852,095 (-)ENTREZGENE
CHM1_1295,814,978 - 95,829,563 (-)NCBI
T2T-CHM13v2.0295,651,504 - 95,666,330 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446081   ⟹   XP_047302037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,145,000 - 95,159,848 (-)NCBI
RefSeq Acc Id: XM_047446084   ⟹   XP_047302040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,145,000 - 95,157,344 (-)NCBI
RefSeq Acc Id: XM_054344240   ⟹   XP_054200215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,651,504 - 95,666,108 (-)NCBI
RefSeq Acc Id: XM_054344241   ⟹   XP_054200216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,651,504 - 95,666,330 (-)NCBI
RefSeq Acc Id: XM_054344242   ⟹   XP_054200217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,651,504 - 95,663,849 (-)NCBI
RefSeq Acc Id: XR_001739001
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,123,105 - 95,159,585 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001739002
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,123,105 - 95,159,585 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007083281
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,129,787 - 95,159,585 (-)NCBI
RefSeq Acc Id: XR_007083290
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,123,105 - 95,159,202 (-)NCBI
RefSeq Acc Id: XR_007083314
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,130,405 - 95,159,848 (-)NCBI
RefSeq Acc Id: XR_008486563
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,629,489 - 95,666,090 (-)NCBI
RefSeq Acc Id: XR_008486564
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,629,488 - 95,666,090 (-)NCBI
RefSeq Acc Id: XR_008486565
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,636,613 - 95,666,090 (-)NCBI
RefSeq Acc Id: XR_008486566
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,636,613 - 95,666,090 (-)NCBI
RefSeq Acc Id: XR_008486567
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,629,489 - 95,665,707 (-)NCBI
RefSeq Acc Id: XR_008486568
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0295,636,613 - 95,666,330 (-)NCBI
RefSeq Acc Id: XR_923048
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38295,130,405 - 95,159,585 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_116177   ⟸   NM_032788
- Peptide Label: isoform 2
- UniProtKB: Q5JPJ3 (UniProtKB/Swiss-Prot),   Q96K75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304934   ⟸   NM_001318005
- Peptide Label: isoform 1
- UniProtKB: Q96K75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000405509   ⟸   ENST00000411425
RefSeq Acc Id: ENSP00000295208   ⟸   ENST00000295208
RefSeq Acc Id: ENSP00000399647   ⟸   ENST00000447814
RefSeq Acc Id: ENSP00000511953   ⟸   ENST00000695481
RefSeq Acc Id: XP_047302037   ⟸   XM_047446081
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047302040   ⟸   XM_047446084
- Peptide Label: isoform X1
RefSeq Acc Id: ENSP00000513897   ⟸   ENST00000698723
RefSeq Acc Id: ENSP00000513894   ⟸   ENST00000698720
RefSeq Acc Id: ENSP00000513896   ⟸   ENST00000698722
RefSeq Acc Id: ENSP00000513895   ⟸   ENST00000698721
RefSeq Acc Id: XP_054200216   ⟸   XM_054344241
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200215   ⟸   XM_054344240
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200217   ⟸   XM_054344242
- Peptide Label: isoform X1
Protein Domains
KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96K75-F1-model_v2 AlphaFold Q96K75 1-400 view protein structure

Promoters
RGD ID:6861010
Promoter ID:EPDNEW_H3670
Type:initiation region
Name:ZNF514_1
Description:zinc finger protein 514
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
GRCh38295,159,577 - 95,159,637EPDNEW
RGD ID:6798493
Promoter ID:HG_KWN:33851
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000252769,   UC002SUD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36295,189,091 - 95,189,591 (-)MPROMDB
RGD ID:6798505
Promoter ID:HG_KWN:33852
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000295210,   ENST00000340539,   OTTHUMT00000338596,   OTTHUMT00000338597,   OTTHUMT00000338629,   UC010FHS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36295,194,856 - 95,195,356 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25894 AgrOrtholog
COSMIC ZNF514 COSMIC
Ensembl Genes ENSG00000144026 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295208 ENTREZGENE
  ENST00000295208.7 UniProtKB/Swiss-Prot
  ENST00000411425.1 UniProtKB/Swiss-Prot
  ENST00000447814.1 UniProtKB/TrEMBL
  ENST00000695481.2 UniProtKB/Swiss-Prot
  ENST00000698720.1 UniProtKB/Swiss-Prot
  ENST00000698721.1 UniProtKB/Swiss-Prot
  ENST00000698722.1 UniProtKB/Swiss-Prot
  ENST00000698723.1 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000144026 GTEx
HGNC ID HGNC:25894 ENTREZGENE
Human Proteome Map ZNF514 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:84874 UniProtKB/Swiss-Prot
NCBI Gene 84874 ENTREZGENE
PANTHER KRAB DOMAIN C2H2 ZINC FINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER IMPRINTED 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA134978837 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt C9K038_HUMAN UniProtKB/TrEMBL
  Q5JPJ3 ENTREZGENE
  Q96K75 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5JPJ3 UniProtKB/Swiss-Prot