ZNF283 (zinc finger protein 283) - Rat Genome Database

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Gene: ZNF283 (zinc finger protein 283) Homo sapiens
Analyze
Symbol: ZNF283
Name: zinc finger protein 283
RGD ID: 1354182
HGNC Page HGNC:13077
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: HZF19; HZF41; zinc finger protein 41; zinc finger protein HZF19
RGD Orthologs
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh381943,827,321 - 43,852,017 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,827,321 - 43,852,017 (+)EnsemblGRCh38hg38GRCh38
GRCh371944,331,473 - 44,356,169 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361949,023,313 - 49,044,890 (+)NCBINCBI36Build 36hg18NCBI36
Celera1941,135,012 - 41,156,588 (+)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,763,793 - 40,785,370 (+)NCBIHuRef
CHM1_11944,333,423 - 44,354,986 (+)NCBICHM1_1
T2T-CHM13v2.01946,650,221 - 46,674,916 (+)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)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
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:7865130   PMID:11827452   PMID:12477932   PMID:12743021   PMID:14702039   PMID:21873635   PMID:23535729   PMID:29180619  


Genomics

Comparative Map Data
ZNF283
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381943,827,321 - 43,852,017 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,827,321 - 43,852,017 (+)EnsemblGRCh38hg38GRCh38
GRCh371944,331,473 - 44,356,169 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361949,023,313 - 49,044,890 (+)NCBINCBI36Build 36hg18NCBI36
Celera1941,135,012 - 41,156,588 (+)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,763,793 - 40,785,370 (+)NCBIHuRef
CHM1_11944,333,423 - 44,354,986 (+)NCBICHM1_1
T2T-CHM13v2.01946,650,221 - 46,674,916 (+)NCBIT2T-CHM13v2.0
Znf283
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555551,564,829 - 1,567,836 (+)NCBIChiLan1.0ChiLan1.0
ZNF283
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22049,990,440 - 50,016,529 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11951,862,774 - 51,891,371 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01940,776,561 - 40,798,187 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11949,369,086 - 49,402,023 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1949,384,387 - 49,401,769 (+)Ensemblpanpan1.1panPan2
ZNF283
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11111,300,327 - 111,321,654 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1111,303,693 - 111,414,275 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1110,780,371 - 110,801,296 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01111,874,760 - 111,894,491 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1111,861,346 - 111,893,681 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11111,503,089 - 111,524,010 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01111,134,244 - 111,154,748 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01112,016,989 - 112,037,693 (-)NCBIUU_Cfam_GSD_1.0
Znf283
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,642,205 - 16,657,621 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936706997,170 - 1,006,133 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936706989,269 - 1,005,019 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF283
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl650,660,723 - 50,679,790 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1650,650,477 - 50,682,470 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2646,472,681 - 46,490,990 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF283
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1637,358,888 - 37,375,262 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607316,906,367 - 16,924,114 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ZNF283
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3 copy number gain See cases [RCV000054151] Chr19:43338231..43853163 [GRCh38]
Chr19:43842383..44357315 [GRCh37]
Chr19:48534223..49049155 [NCBI36]
Chr19:19q13.31		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
GRCh37/hg19 19q13.31(chr19:44273854-44341333)x3 copy number gain See cases [RCV000448693] Chr19:44273854..44341333 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1 copy number loss See cases [RCV000512107] Chr19:44300416..45639540 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_181845.2(ZNF283):c.1963A>C (p.Lys655Gln) single nucleotide variant not specified [RCV004290511] Chr19:43848564 [GRCh38]
Chr19:44352716 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_181845.2(ZNF283):c.257A>C (p.Glu86Ala) single nucleotide variant not specified [RCV004298760] Chr19:43837099 [GRCh38]
Chr19:44341251 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.523T>G (p.Phe175Val) single nucleotide variant not specified [RCV004307250] Chr19:43847124 [GRCh38]
Chr19:44351276 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
GRCh37/hg19 19q13.31(chr19:44351107-44352665)x1 copy number loss not provided [RCV000740175] Chr19:44351107..44352665 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q13.31(chr19:44351107-44353242)x1 copy number loss not provided [RCV000740176] Chr19:44351107..44353242 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q13.31(chr19:44351107-44377357)x0 copy number loss not provided [RCV000740177] Chr19:44351107..44377357 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q13.31(chr19:44351168-44352688)x1 copy number loss not provided [RCV000740178] Chr19:44351168..44352688 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q13.31(chr19:44351168-44353242)x1 copy number loss not provided [RCV000740179] Chr19:44351168..44353242 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q13.31(chr19:44351168-44373892)x0 copy number loss not provided [RCV000740180] Chr19:44351168..44373892 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_181845.2(ZNF283):c.1015A>G (p.Ile339Val) single nucleotide variant not specified [RCV004304247] Chr19:43847616 [GRCh38]
Chr19:44351768 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1242C>T (p.Cys414=) single nucleotide variant not provided [RCV000888260] Chr19:43847843 [GRCh38]
Chr19:44351995 [GRCh37]
Chr19:19q13.31		 benign
NC_000019.9:g.(?_44011002)_(45213778_?)dup duplication Ethylmalonic encephalopathy [RCV003116731] Chr19:44011002..45213778 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_181845.2(ZNF283):c.999C>G (p.Ser333Arg) single nucleotide variant not specified [RCV004282106] Chr19:43847600 [GRCh38]
Chr19:44351752 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.295G>A (p.Val99Met) single nucleotide variant not specified [RCV004238387] Chr19:43837137 [GRCh38]
Chr19:44341289 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1062G>T (p.Lys354Asn) single nucleotide variant not specified [RCV004145326] Chr19:43847663 [GRCh38]
Chr19:44351815 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.246C>A (p.Phe82Leu) single nucleotide variant not specified [RCV004139263] Chr19:43837088 [GRCh38]
Chr19:44341240 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.920C>A (p.Thr307Asn) single nucleotide variant not specified [RCV004179307] Chr19:43847521 [GRCh38]
Chr19:44351673 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.412T>G (p.Trp138Gly) single nucleotide variant not specified [RCV004196882] Chr19:43847013 [GRCh38]
Chr19:44351165 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1205C>A (p.Pro402His) single nucleotide variant not specified [RCV004103988] Chr19:43847806 [GRCh38]
Chr19:44351958 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1927G>T (p.Val643Phe) single nucleotide variant not specified [RCV004203052] Chr19:43848528 [GRCh38]
Chr19:44352680 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.620A>G (p.Tyr207Cys) single nucleotide variant not specified [RCV004171719] Chr19:43847221 [GRCh38]
Chr19:44351373 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1243G>A (p.Gly415Arg) single nucleotide variant not specified [RCV004231997] Chr19:43847844 [GRCh38]
Chr19:44351996 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1943A>G (p.His648Arg) single nucleotide variant not specified [RCV004125273] Chr19:43848544 [GRCh38]
Chr19:44352696 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1071T>G (p.Ser357Arg) single nucleotide variant not specified [RCV004105306] Chr19:43847672 [GRCh38]
Chr19:44351824 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.989G>T (p.Trp330Leu) single nucleotide variant not specified [RCV004114909] Chr19:43847590 [GRCh38]
Chr19:44351742 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1511G>A (p.Arg504Gln) single nucleotide variant not specified [RCV004189165] Chr19:43848112 [GRCh38]
Chr19:44352264 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1379A>C (p.Glu460Ala) single nucleotide variant not specified [RCV004187348] Chr19:43847980 [GRCh38]
Chr19:44352132 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.590A>G (p.His197Arg) single nucleotide variant not specified [RCV004276986] Chr19:43847191 [GRCh38]
Chr19:44351343 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.241G>A (p.Asp81Asn) single nucleotide variant not specified [RCV004259334] Chr19:43837083 [GRCh38]
Chr19:44341235 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.353C>T (p.Thr118Met) single nucleotide variant not specified [RCV004316475] Chr19:43846954 [GRCh38]
Chr19:44351106 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.905G>A (p.Arg302His) single nucleotide variant not specified [RCV004326087] Chr19:43847506 [GRCh38]
Chr19:44351658 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1073G>A (p.Arg358His) single nucleotide variant not specified [RCV004365576] Chr19:43847674 [GRCh38]
Chr19:44351826 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.545A>G (p.Tyr182Cys) single nucleotide variant not specified [RCV004339483] Chr19:43847146 [GRCh38]
Chr19:44351298 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.425A>C (p.Asp142Ala) single nucleotide variant not specified [RCV004360507] Chr19:43847026 [GRCh38]
Chr19:44351178 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1062G>A (p.Lys354=) single nucleotide variant not provided [RCV003425248] Chr19:43847663 [GRCh38]
Chr19:44351815 [GRCh37]
Chr19:19q13.31		 likely benign
NM_181845.2(ZNF283):c.1064C>A (p.Ala355Asp) single nucleotide variant not specified [RCV004494258] Chr19:43847665 [GRCh38]
Chr19:44351817 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1244G>C (p.Gly415Ala) single nucleotide variant not specified [RCV004494259] Chr19:43847845 [GRCh38]
Chr19:44351997 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1580G>T (p.Gly527Val) single nucleotide variant not specified [RCV004494260] Chr19:43848181 [GRCh38]
Chr19:44352333 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.973G>A (p.Gly325Arg) single nucleotide variant not specified [RCV004494269] Chr19:43847574 [GRCh38]
Chr19:44351726 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.311A>T (p.Glu104Val) single nucleotide variant not specified [RCV004494265] Chr19:43837153 [GRCh38]
Chr19:44341305 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.679A>G (p.Arg227Gly) single nucleotide variant not specified [RCV004494267] Chr19:43847280 [GRCh38]
Chr19:44351432 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1661G>A (p.Arg554His) single nucleotide variant not specified [RCV004494261] Chr19:43848262 [GRCh38]
Chr19:44352414 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1812T>G (p.Cys604Trp) single nucleotide variant not specified [RCV004494262] Chr19:43848413 [GRCh38]
Chr19:44352565 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1845T>A (p.Ser615Arg) single nucleotide variant not specified [RCV004494263] Chr19:43848446 [GRCh38]
Chr19:44352598 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.1867G>C (p.Gly623Arg) single nucleotide variant not specified [RCV004494264] Chr19:43848468 [GRCh38]
Chr19:44352620 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.632A>C (p.Glu211Ala) single nucleotide variant not specified [RCV004494266] Chr19:43847233 [GRCh38]
Chr19:44351385 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_181845.2(ZNF283):c.904C>T (p.Arg302Cys) single nucleotide variant not specified [RCV004494268] Chr19:43847505 [GRCh38]
Chr19:44351657 [GRCh37]
Chr19:19q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2138
Count of miRNA genes:913
Interacting mature miRNAs:1031
Transcripts:ENST00000310738, ENST00000324461, ENST00000586976, ENST00000588797, ENST00000588967, ENST00000590950, ENST00000591203, ENST00000593164, ENST00000593268
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.

Markers in Region
ZNF283__4808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,352,256 - 44,352,788UniSTSGRCh37
GRCh371944,351,920 - 44,352,788UniSTSGRCh37
Build 361949,044,096 - 49,044,628RGDNCBI36
Celera1941,155,458 - 41,156,326UniSTS
Celera1941,155,794 - 41,156,326RGD
HuRef1940,784,576 - 40,785,108UniSTS
HuRef1940,784,240 - 40,785,108UniSTS


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 15 3 1 14 2 9 3 16 6 35 18 1
Low 2405 2241 1550 455 1266 296 4249 2010 3424 401 1410 1583 170 1198 2696 4
Below cutoff 12 743 170 166 667 166 97 180 268 11 3 7 6 92

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001297752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI753038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY166784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY500359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY500364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE261849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC324604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324461   ⟹   ENSP00000327314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,833,505 - 43,848,898 (+)Ensembl
RefSeq Acc Id: ENST00000586976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,827,395 - 43,841,475 (+)Ensembl
RefSeq Acc Id: ENST00000588797   ⟹   ENSP00000468708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,827,374 - 43,848,898 (+)Ensembl
RefSeq Acc Id: ENST00000588967   ⟹   ENSP00000465942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,828,199 - 43,837,179 (+)Ensembl
RefSeq Acc Id: ENST00000590950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,827,424 - 43,841,018 (+)Ensembl
RefSeq Acc Id: ENST00000591203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,827,355 - 43,833,852 (+)Ensembl
RefSeq Acc Id: ENST00000593164   ⟹   ENSP00000467328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,828,202 - 43,838,080 (+)Ensembl
RefSeq Acc Id: ENST00000593268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,828,196 - 43,840,775 (+)Ensembl
RefSeq Acc Id: ENST00000618787   ⟹   ENSP00000484852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,827,321 - 43,852,017 (+)Ensembl
RefSeq Acc Id: ENST00000650832   ⟹   ENSP00000498705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,827,378 - 43,848,809 (+)Ensembl
RefSeq Acc Id: NM_001297752   ⟹   NP_001284681
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
CHM1_11944,333,394 - 44,354,986 (+)NCBI
T2T-CHM13v2.01946,650,221 - 46,674,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181845   ⟹   NP_862828
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
GRCh371944,331,445 - 44,353,050 (+)NCBI
Build 361949,023,313 - 49,044,890 (+)NCBI Archive
Celera1941,135,012 - 41,156,588 (+)RGD
HuRef1940,763,793 - 40,785,370 (+)RGD
CHM1_11944,333,423 - 44,354,986 (+)NCBI
T2T-CHM13v2.01946,650,221 - 46,674,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258784   ⟹   XP_005258841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
GRCh371944,331,445 - 44,353,050 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258785   ⟹   XP_005258842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
GRCh371944,331,445 - 44,353,050 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258786   ⟹   XP_005258843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
GRCh371944,331,445 - 44,353,050 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026633   ⟹   XP_016882122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026634   ⟹   XP_016882123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026635   ⟹   XP_016882124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026636   ⟹   XP_016882125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,841,472 - 43,852,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451460   ⟹   XP_024307228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,830,263 - 43,852,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438638   ⟹   XP_047294594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,321 - 43,852,017 (+)NCBI
RefSeq Acc Id: XM_047438639   ⟹   XP_047294595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,827,617 - 43,852,017 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_862828   ⟸   NM_181845
- Peptide Label: isoform 1
- UniProtKB: Q6RFR9 (UniProtKB/Swiss-Prot),   B7WP04 (UniProtKB/Swiss-Prot),   B4DGZ5 (UniProtKB/Swiss-Prot),   Q86WM6 (UniProtKB/Swiss-Prot),   Q8N7M2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258843   ⟸   XM_005258786
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005258841   ⟸   XM_005258784
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005258842   ⟸   XM_005258785
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001284681   ⟸   NM_001297752
- Peptide Label: isoform 2
- UniProtKB: Q8N7M2 (UniProtKB/Swiss-Prot),   K7ESH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882122   ⟸   XM_017026633
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016882124   ⟸   XM_017026635
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016882123   ⟸   XM_017026634
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016882125   ⟸   XM_017026636
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024307228   ⟸   XM_024451460
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000498705   ⟸   ENST00000650832
RefSeq Acc Id: ENSP00000327314   ⟸   ENST00000324461
RefSeq Acc Id: ENSP00000465942   ⟸   ENST00000588967
RefSeq Acc Id: ENSP00000468708   ⟸   ENST00000588797
RefSeq Acc Id: ENSP00000484852   ⟸   ENST00000618787
RefSeq Acc Id: ENSP00000467328   ⟸   ENST00000593164
RefSeq Acc Id: XP_047294594   ⟸   XM_047438638
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047294595   ⟸   XM_047438639
- Peptide Label: isoform X1
Protein Domains
C2H2-type   KRAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N7M2-F1-model_v2 AlphaFold Q8N7M2 1-679 view protein structure

Promoters
RGD ID:6796344
Promoter ID:HG_KWN:30171
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000332302,   NM_181845,   UC002OXO.1,   UC002OXP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361949,023,131 - 49,023,631 (+)MPROMDB
RGD ID:6796290
Promoter ID:HG_KWN:30172
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC002OXQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361949,023,196 - 49,023,696 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13077 AgrOrtholog
COSMIC ZNF283 COSMIC
Ensembl Genes ENSG00000167637 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324461.9 UniProtKB/Swiss-Prot
  ENST00000588797.6 UniProtKB/TrEMBL
  ENST00000588967.1 UniProtKB/TrEMBL
  ENST00000593164.6 UniProtKB/TrEMBL
  ENST00000618787 ENTREZGENE
  ENST00000618787.5 UniProtKB/Swiss-Prot
  ENST00000650832 ENTREZGENE
  ENST00000650832.1 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167637 GTEx
HGNC ID HGNC:13077 ENTREZGENE
Human Proteome Map ZNF283 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:284349 UniProtKB/Swiss-Prot
NCBI Gene 284349 ENTREZGENE
PANTHER KRAB DOMAIN C2H2 ZINC FINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  KRAB DOMAIN-CONTAINING PROTEIN 5-RELATED UniProtKB/TrEMBL
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37653 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0U8_HUMAN UniProtKB/TrEMBL
  B4DGZ5 ENTREZGENE
  B7WP04 ENTREZGENE
  K7EL69_HUMAN UniProtKB/TrEMBL
  K7ESH0 ENTREZGENE, UniProtKB/TrEMBL
  Q4G0N1_HUMAN UniProtKB/TrEMBL
  Q6RFR9 ENTREZGENE
  Q86WM6 ENTREZGENE
  Q8N7M2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DGZ5 UniProtKB/Swiss-Prot
  B7WP04 UniProtKB/Swiss-Prot
  K7EPC6 UniProtKB/TrEMBL
  Q6RFR9 UniProtKB/Swiss-Prot
  Q86WM6 UniProtKB/Swiss-Prot