ZKSCAN8 (zinc finger with KRAB and SCAN domains 8) - Rat Genome Database

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Gene: ZKSCAN8 (zinc finger with KRAB and SCAN domains 8) Homo sapiens
Analyze
Symbol: ZKSCAN8
Name: zinc finger with KRAB and SCAN domains 8
RGD ID: 1319074
HGNC Page HGNC:12983
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 located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LD5-1; zinc finger protein 192; zinc finger protein with KRAB and SCAN domains 8; ZNF192; ZSCAN40
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100419763   ZKSCAN8P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38628,141,635 - 28,159,460 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl628,141,883 - 28,159,460 (+)EnsemblGRCh38hg38GRCh38
GRCh37628,109,661 - 28,127,238 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36628,217,695 - 28,233,215 (+)NCBINCBI36Build 36hg18NCBI36
Build 34628,217,694 - 28,233,215NCBI
Celera629,715,776 - 29,731,298 (+)NCBICelera
Cytogenetic Map6p22.1NCBI
HuRef627,917,672 - 27,935,237 (+)NCBIHuRef
CHM1_1628,112,106 - 28,129,668 (+)NCBICHM1_1
T2T-CHM13v2.0628,011,657 - 28,029,482 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
megacolon  (IAGP)

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

Biological Process

Cellular Component
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Megacolon  (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:8673473   PMID:8889548   PMID:9244436   PMID:10567577   PMID:10737800   PMID:12477932   PMID:14574404   PMID:15489334   PMID:18029348   PMID:18482256   PMID:21244100   PMID:21873635  
PMID:25421577   PMID:26186194   PMID:26496610   PMID:27503909   PMID:28514442   PMID:28977666   PMID:28986522   PMID:29121065   PMID:29180619   PMID:29568061   PMID:29802200   PMID:29844126  
PMID:30804502   PMID:32239614   PMID:32296183   PMID:32814053   PMID:32891193   PMID:32994395   PMID:33111431   PMID:33961781   PMID:34921745   PMID:35013218   PMID:35509820   PMID:35563538  
PMID:35915203   PMID:36089195   PMID:37372979   PMID:38697112  


Genomics

Comparative Map Data
ZKSCAN8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38628,141,635 - 28,159,460 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl628,141,883 - 28,159,460 (+)EnsemblGRCh38hg38GRCh38
GRCh37628,109,661 - 28,127,238 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36628,217,695 - 28,233,215 (+)NCBINCBI36Build 36hg18NCBI36
Build 34628,217,694 - 28,233,215NCBI
Celera629,715,776 - 29,731,298 (+)NCBICelera
Cytogenetic Map6p22.1NCBI
HuRef627,917,672 - 27,935,237 (+)NCBIHuRef
CHM1_1628,112,106 - 28,129,668 (+)NCBICHM1_1
T2T-CHM13v2.0628,011,657 - 28,029,482 (+)NCBIT2T-CHM13v2.0
Zkscan8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391321,697,391 - 21,715,284 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1321,697,392 - 21,715,290 (-)EnsemblGRCm39 Ensembl
GRCm381321,513,221 - 21,531,114 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1321,362,820 - 21,372,289 (+)EnsemblGRCm38mm10GRCm38
MGSCv371321,454,689 - 21,464,171 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361321,370,750 - 21,377,289 (+)NCBIMGSCv36mm8
Celera1321,628,776 - 21,638,260 (+)NCBICelera
Cytogenetic Map13A3.1NCBI
cM Map137.84NCBI
Zkscan8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81747,735,120 - 47,753,126 (+)NCBIGRCr8
mRatBN7.21743,039,383 - 43,057,391 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1743,039,383 - 43,057,391 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1745,096,813 - 45,114,818 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01749,855,925 - 49,873,930 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01744,346,844 - 44,364,856 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01745,078,547 - 45,105,610 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1745,078,556 - 45,097,013 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01758,363,707 - 58,390,623 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41750,686,109 - 50,693,383 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11750,688,948 - 50,697,009 (+)NCBI
Celera1753,407,982 - 53,425,952 (-)NCBICelera
Cytogenetic Map17p11NCBI
Zkscan8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546513,553,599 - 13,558,440 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546513,534,315 - 13,572,347 (+)NCBIChiLan1.0ChiLan1.0
LOC100980386
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2542,746,123 - 42,765,627 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1638,747,059 - 38,766,627 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0627,933,820 - 27,952,339 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1628,608,157 - 28,625,929 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl628,608,290 - 28,620,481 (+)Ensemblpanpan1.1panPan2
ZKSCAN8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13525,305,821 - 25,321,830 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3525,305,610 - 25,317,780 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3525,163,764 - 25,180,175 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03525,603,616 - 25,620,040 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3525,603,662 - 25,620,039 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13525,268,737 - 25,284,958 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03525,321,589 - 25,337,971 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03526,789,301 - 26,805,713 (+)NCBIUU_Cfam_GSD_1.0
Zkscan8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494628,552,293 - 28,562,686 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936772224,088 - 229,848 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936772218,713 - 232,980 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC103221931
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11744,434,450 - 44,456,668 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1744,439,914 - 44,452,992 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604427,772,463 - 27,794,728 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zkscan8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475624,524,795 - 24,537,744 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475624,512,320 - 24,543,333 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZKSCAN8
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3 copy number gain See cases [RCV000133692] Chr6:26280579..28727313 [GRCh38]
Chr6:26280807..28695090 [GRCh37]
Chr6:26388786..28803069 [NCBI36]
Chr6:6p22.2-22.1		 uncertain significance
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_006298.4(ZKSCAN8):c.1363A>G (p.Ile455Val) single nucleotide variant not specified [RCV004319892] Chr6:28153643 [GRCh38]
Chr6:28121421 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1191G>T (p.Gln397His) single nucleotide variant not specified [RCV004331116] Chr6:28153471 [GRCh38]
Chr6:28121249 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1073C>A (p.Ala358Asp) single nucleotide variant not specified [RCV004304749] Chr6:28153353 [GRCh38]
Chr6:28121131 [GRCh37]
Chr6:6p22.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1(chr6:28007319-28174590)x3 copy number gain not provided [RCV000745590] Chr6:28007319..28174590 [GRCh37]
Chr6:6p22.1		 benign
NM_006298.4(ZKSCAN8):c.938G>A (p.Arg313Gln) single nucleotide variant not specified [RCV004288614] Chr6:28153218 [GRCh38]
Chr6:28120996 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.355G>A (p.Gly119Arg) single nucleotide variant not specified [RCV004317935] Chr6:28148762 [GRCh38]
Chr6:28116540 [GRCh37]
Chr6:6p22.1		 uncertain significance
NC_000006.11:g.28005012_31683185del deletion Megacolon [RCV001290055] Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33		 likely pathogenic
NM_006298.4(ZKSCAN8):c.1583A>G (p.Asn528Ser) single nucleotide variant not specified [RCV004193989] Chr6:28153863 [GRCh38]
Chr6:28121641 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.358G>C (p.Glu120Gln) single nucleotide variant not specified [RCV004163667] Chr6:28148765 [GRCh38]
Chr6:28116543 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1670A>G (p.Gln557Arg) single nucleotide variant not specified [RCV004144795] Chr6:28153950 [GRCh38]
Chr6:28121728 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.152G>A (p.Arg51His) single nucleotide variant not specified [RCV004235862] Chr6:28148559 [GRCh38]
Chr6:28116337 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.125G>A (p.Ser42Asn) single nucleotide variant not specified [RCV004243604] Chr6:28148532 [GRCh38]
Chr6:28116310 [GRCh37]
Chr6:6p22.1		 likely benign
NM_006298.4(ZKSCAN8):c.1138T>C (p.Cys380Arg) single nucleotide variant not specified [RCV004112801] Chr6:28153418 [GRCh38]
Chr6:28121196 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1120A>C (p.Lys374Gln) single nucleotide variant not specified [RCV004218432] Chr6:28153400 [GRCh38]
Chr6:28121178 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1678A>G (p.Ser560Gly) single nucleotide variant not specified [RCV004159853] Chr6:28153958 [GRCh38]
Chr6:28121736 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.430G>A (p.Val144Ile) single nucleotide variant not specified [RCV004201532] Chr6:28149495 [GRCh38]
Chr6:28117273 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1561A>G (p.Lys521Glu) single nucleotide variant not specified [RCV004118544] Chr6:28153841 [GRCh38]
Chr6:28121619 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.40C>T (p.Pro14Ser) single nucleotide variant not specified [RCV004289781] Chr6:28148447 [GRCh38]
Chr6:28116225 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1429C>G (p.Leu477Val) single nucleotide variant not specified [RCV004267252] Chr6:28153709 [GRCh38]
Chr6:28121487 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1720G>A (p.Glu574Lys) single nucleotide variant not specified [RCV004275370] Chr6:28154000 [GRCh38]
Chr6:28121778 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.172C>G (p.Arg58Gly) single nucleotide variant not specified [RCV004310025] Chr6:28148579 [GRCh38]
Chr6:28116357 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1420A>G (p.Ser474Gly) single nucleotide variant not specified [RCV004331198] Chr6:28153700 [GRCh38]
Chr6:28121478 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.215T>C (p.Leu72Pro) single nucleotide variant not specified [RCV004346910] Chr6:28148622 [GRCh38]
Chr6:28116400 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.404T>C (p.Ile135Thr) single nucleotide variant not specified [RCV004488994] Chr6:28148811 [GRCh38]
Chr6:28116589 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.430G>C (p.Val144Leu) single nucleotide variant not specified [RCV004488995] Chr6:28149495 [GRCh38]
Chr6:28117273 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.695A>C (p.Glu232Ala) single nucleotide variant not specified [RCV004488996] Chr6:28152304 [GRCh38]
Chr6:28120082 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.871G>A (p.Gly291Arg) single nucleotide variant not specified [RCV004488997] Chr6:28153151 [GRCh38]
Chr6:28120929 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1196T>G (p.Ile399Ser) single nucleotide variant not specified [RCV004488989] Chr6:28153476 [GRCh38]
Chr6:28121254 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1211A>G (p.Lys404Arg) single nucleotide variant not specified [RCV004488990] Chr6:28153491 [GRCh38]
Chr6:28121269 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1226A>G (p.Asn409Ser) single nucleotide variant not specified [RCV004488992] Chr6:28153506 [GRCh38]
Chr6:28121284 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1447A>G (p.Ser483Gly) single nucleotide variant not specified [RCV004488993] Chr6:28153727 [GRCh38]
Chr6:28121505 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.587G>A (p.Arg196His) single nucleotide variant not specified [RCV004687296] Chr6:28151872 [GRCh38]
Chr6:28119650 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.1207G>A (p.Glu403Lys) single nucleotide variant not specified [RCV004687297] Chr6:28153487 [GRCh38]
Chr6:28121265 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.666T>G (p.Ile222Met) single nucleotide variant not specified [RCV004687298] Chr6:28152275 [GRCh38]
Chr6:28120053 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.217C>T (p.Arg73Trp) single nucleotide variant not specified [RCV004687294] Chr6:28148624 [GRCh38]
Chr6:28116402 [GRCh37]
Chr6:6p22.1		 uncertain significance
NM_006298.4(ZKSCAN8):c.461T>A (p.Val154Glu) single nucleotide variant not specified [RCV004687295] Chr6:28149526 [GRCh38]
Chr6:28117304 [GRCh37]
Chr6:6p22.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR221hsa-miR-221-3pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2498
Count of miRNA genes:1008
Interacting mature miRNAs:1212
Transcripts:ENST00000330236, ENST00000457389, ENST00000536028, ENST00000606198
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
407248127GWAS897103_Hautism spectrum disorder QTL GWAS897103 (human)0.000008autism spectrum disorder62814955328149554Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human
406993036GWAS642012_Hwellbeing measurement QTL GWAS642012 (human)6e-12wellbeing measurement62814955328149554Human
407201914GWAS850890_Hanxiety, stress-related disorder, major depressive disorder QTL GWAS850890 (human)2e-08anxiety, stress-related disorder, major depressive disorder62815633628156337Human

Markers in Region
D6S2282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37628,125,530 - 28,125,719UniSTSGRCh37
Build 36628,233,509 - 28,233,698RGDNCBI36
Celera629,731,592 - 29,731,781RGD
Cytogenetic Map6p21.3UniSTS
HuRef627,933,517 - 27,933,706UniSTS
RH93794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37628,126,886 - 28,127,020UniSTSGRCh37
Build 36628,234,865 - 28,234,999RGDNCBI36
Celera629,732,948 - 29,733,082RGD
Cytogenetic Map6p21.3UniSTS
HuRef627,934,873 - 27,935,007UniSTS
GeneMap99-GB4 RH Map6113.9UniSTS
RH75895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37628,121,812 - 28,122,034UniSTSGRCh37
Build 36628,229,791 - 28,230,013RGDNCBI36
Celera629,727,874 - 29,728,096RGD
Cytogenetic Map6p21.3UniSTS
HuRef627,929,799 - 27,930,021UniSTS
D3S587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,723,594 - 10,723,833UniSTSGRCh37
Build 36310,698,594 - 10,698,833RGDNCBI36
Celera310,659,049 - 10,659,288RGD
HuRef310,658,339 - 10,658,578UniSTS
PMC123025P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37628,122,146 - 28,122,893UniSTSGRCh37
Build 36628,230,125 - 28,230,872RGDNCBI36
Celera629,728,208 - 29,728,955RGD
Cytogenetic Map6p21.3UniSTS
HuRef627,930,133 - 27,930,880UniSTS
ZNF192__4975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37628,123,061 - 28,123,859UniSTSGRCh37
Build 36628,231,040 - 28,231,838RGDNCBI36
Celera629,729,123 - 29,729,921RGD
HuRef627,931,048 - 27,931,846UniSTS
D3S587  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q23.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2248 4971 1726 2349 5 623 1949 464 2269 7293 6463 52 3733 850 1741 1616 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA453245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM664529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ327604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000330236   ⟹   ENSP00000332750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl628,141,883 - 28,159,460 (+)Ensembl
Ensembl Acc Id: ENST00000457389   ⟹   ENSP00000402948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl628,141,938 - 28,154,073 (+)Ensembl
Ensembl Acc Id: ENST00000536028   ⟹   ENSP00000439117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl628,142,211 - 28,153,079 (+)Ensembl
Ensembl Acc Id: ENST00000606198   ⟹   ENSP00000475589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl628,141,910 - 28,154,111 (+)Ensembl
RefSeq Acc Id: NM_001278119   ⟹   NP_001265048
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,159,460 (+)NCBI
HuRef627,917,672 - 27,935,237 (+)NCBI
CHM1_1628,112,106 - 28,129,668 (+)NCBI
T2T-CHM13v2.0628,011,905 - 28,029,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278121   ⟹   NP_001265050
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,142,211 - 28,159,460 (+)NCBI
GRCh37628,109,688 - 28,127,250 (+)NCBI
HuRef627,917,672 - 27,935,237 (+)NCBI
CHM1_1628,112,407 - 28,129,668 (+)NCBI
T2T-CHM13v2.0628,012,233 - 28,029,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278122   ⟹   NP_001265051
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,159,460 (+)NCBI
HuRef627,917,672 - 27,935,237 (+)NCBI
CHM1_1628,112,106 - 28,129,668 (+)NCBI
T2T-CHM13v2.0628,011,905 - 28,029,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006298   ⟹   NP_006289
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,159,460 (+)NCBI
GRCh37628,109,688 - 28,127,250 (+)NCBI
Build 36628,217,695 - 28,233,215 (+)NCBI Archive
Celera629,715,776 - 29,731,298 (+)RGD
HuRef627,917,672 - 27,935,237 (+)NCBI
CHM1_1628,112,106 - 28,129,668 (+)NCBI
T2T-CHM13v2.0628,011,905 - 28,029,482 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514870   ⟹   XP_011513172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,159,460 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514874   ⟹   XP_011513176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,159,460 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011266   ⟹   XP_016866755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,635 - 28,159,460 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419315   ⟹   XP_047275271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,159,460 (+)NCBI
RefSeq Acc Id: XM_054356350   ⟹   XP_054212325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0628,011,905 - 28,029,482 (+)NCBI
RefSeq Acc Id: XM_054356351   ⟹   XP_054212326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0628,011,905 - 28,029,482 (+)NCBI
RefSeq Acc Id: XM_054356352   ⟹   XP_054212327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0628,011,657 - 28,029,482 (+)NCBI
RefSeq Acc Id: XM_054356353   ⟹   XP_054212328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0628,011,905 - 28,029,482 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001265048 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265050 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265051 (Get FASTA)   NCBI Sequence Viewer  
  NP_006289 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513172 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513176 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866755 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212325 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212326 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212327 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212328 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB02260 (Get FASTA)   NCBI Sequence Viewer  
  AAC51656 (Get FASTA)   NCBI Sequence Viewer  
  AAH96282 (Get FASTA)   NCBI Sequence Viewer  
  AAH96283 (Get FASTA)   NCBI Sequence Viewer  
  AAH96284 (Get FASTA)   NCBI Sequence Viewer  
  AAI30033 (Get FASTA)   NCBI Sequence Viewer  
  AAI52379 (Get FASTA)   NCBI Sequence Viewer  
  BAD92030 (Get FASTA)   NCBI Sequence Viewer  
  BAG63713 (Get FASTA)   NCBI Sequence Viewer  
  EAX03135 (Get FASTA)   NCBI Sequence Viewer  
  EAX03136 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332750
  ENSP00000332750.5
  ENSP00000402948
  ENSP00000402948.2
  ENSP00000439117.1
  ENSP00000475589.1
GenBank Protein Q15776 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006289   ⟸   NM_006298
- Peptide Label: isoform 1
- UniProtKB: Q4VAR3 (UniProtKB/Swiss-Prot),   Q4VAR2 (UniProtKB/Swiss-Prot),   Q4VAR1 (UniProtKB/Swiss-Prot),   B4DYF1 (UniProtKB/Swiss-Prot),   A1L3D4 (UniProtKB/Swiss-Prot),   Q9H4T1 (UniProtKB/Swiss-Prot),   Q15776 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265048   ⟸   NM_001278119
- Peptide Label: isoform 1
- UniProtKB: Q4VAR3 (UniProtKB/Swiss-Prot),   Q4VAR2 (UniProtKB/Swiss-Prot),   Q4VAR1 (UniProtKB/Swiss-Prot),   B4DYF1 (UniProtKB/Swiss-Prot),   A1L3D4 (UniProtKB/Swiss-Prot),   Q9H4T1 (UniProtKB/Swiss-Prot),   Q15776 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265051   ⟸   NM_001278122
- Peptide Label: isoform 2
- UniProtKB: Q59HG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265050   ⟸   NM_001278121
- Peptide Label: isoform 2
- UniProtKB: Q15776 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513172   ⟸   XM_011514870
- Peptide Label: isoform X1
- UniProtKB: Q4VAR3 (UniProtKB/Swiss-Prot),   Q4VAR2 (UniProtKB/Swiss-Prot),   Q4VAR1 (UniProtKB/Swiss-Prot),   B4DYF1 (UniProtKB/Swiss-Prot),   A1L3D4 (UniProtKB/Swiss-Prot),   Q9H4T1 (UniProtKB/Swiss-Prot),   Q15776 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513176   ⟸   XM_011514874
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016866755   ⟸   XM_017011266
- Peptide Label: isoform X1
- UniProtKB: Q4VAR3 (UniProtKB/Swiss-Prot),   Q4VAR2 (UniProtKB/Swiss-Prot),   Q4VAR1 (UniProtKB/Swiss-Prot),   B4DYF1 (UniProtKB/Swiss-Prot),   A1L3D4 (UniProtKB/Swiss-Prot),   Q9H4T1 (UniProtKB/Swiss-Prot),   Q15776 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000402948   ⟸   ENST00000457389
Ensembl Acc Id: ENSP00000439117   ⟸   ENST00000536028
Ensembl Acc Id: ENSP00000475589   ⟸   ENST00000606198
Ensembl Acc Id: ENSP00000332750   ⟸   ENST00000330236
RefSeq Acc Id: XP_047275271   ⟸   XM_047419315
- Peptide Label: isoform X1
- UniProtKB: Q4VAR3 (UniProtKB/Swiss-Prot),   Q4VAR2 (UniProtKB/Swiss-Prot),   Q4VAR1 (UniProtKB/Swiss-Prot),   Q15776 (UniProtKB/Swiss-Prot),   B4DYF1 (UniProtKB/Swiss-Prot),   A1L3D4 (UniProtKB/Swiss-Prot),   Q9H4T1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054212327   ⟸   XM_054356352
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212326   ⟸   XM_054356351
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212325   ⟸   XM_054356350
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212328   ⟸   XM_054356353
- Peptide Label: isoform X2
Protein Domains
C2H2-type   KRAB   SCAN box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15776-F1-model_v2 AlphaFold Q15776 1-578 view protein structure

Promoters
RGD ID:6872320
Promoter ID:EPDNEW_H9316
Type:initiation region
Name:ZKSCAN8_2
Description:zinc finger with KRAB and SCAN domains 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9317  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,621 - 28,141,681EPDNEW
RGD ID:6872304
Promoter ID:EPDNEW_H9317
Type:initiation region
Name:ZKSCAN8_1
Description:zinc finger with KRAB and SCAN domains 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9316  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38628,141,883 - 28,141,943EPDNEW
RGD ID:6805041
Promoter ID:HG_KWN:52669
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006298,   UC010JQX.1,   UC010JQY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36628,217,334 - 28,217,834 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12983 AgrOrtholog
COSMIC ZKSCAN8 COSMIC
Ensembl Genes ENSG00000198315 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330236 ENTREZGENE
  ENST00000330236.7 UniProtKB/Swiss-Prot
  ENST00000457389 ENTREZGENE
  ENST00000457389.6 UniProtKB/Swiss-Prot
  ENST00000536028.2 UniProtKB/Swiss-Prot
  ENST00000606198.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.4020.10 UniProtKB/Swiss-Prot
  6.10.140.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198315 GTEx
HGNC ID HGNC:12983 ENTREZGENE
Human Proteome Map ZKSCAN8 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCAN_dom UniProtKB/Swiss-Prot
  SCAN_sf UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7745 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7745 ENTREZGENE
OMIM 602240 OMIM
PANTHER ZINC FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 78 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCAN UniProtKB/Swiss-Prot
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37563 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCAN_BOX UniProtKB/Swiss-Prot
  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
  SCAN UniProtKB/Swiss-Prot
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Retrovirus capsid dimerization domain-like UniProtKB/Swiss-Prot
  SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L3D4 ENTREZGENE
  B4DYF1 ENTREZGENE
  Q15776 ENTREZGENE
  Q4VAR1 ENTREZGENE
  Q4VAR2 ENTREZGENE
  Q4VAR3 ENTREZGENE
  Q59HG5 ENTREZGENE, UniProtKB/TrEMBL
  Q9H4T1 ENTREZGENE
  ZKSC8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1L3D4 UniProtKB/Swiss-Prot
  B4DYF1 UniProtKB/Swiss-Prot
  Q4VAR1 UniProtKB/Swiss-Prot
  Q4VAR2 UniProtKB/Swiss-Prot
  Q4VAR3 UniProtKB/Swiss-Prot
  Q9H4T1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-01-16 ZKSCAN8  zinc finger with KRAB and SCAN domains 8  ZNF192  zinc finger protein 192  Symbol and/or name change 5135510 APPROVED