KLF9 (KLF transcription factor 9) - Rat Genome Database

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Gene: KLF9 (KLF transcription factor 9) Homo sapiens
Analyze
Symbol: KLF9
Name: KLF transcription factor 9
RGD ID: 1350312
HGNC Page HGNC:1123
Description: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in cellular response to cortisol stimulus; circadian rhythm; and negative regulation of keratinocyte proliferation. Located in cytosol; nucleoplasm; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basic transcription element binding protein 1; basic transcription element-binding protein 1; BTE-binding protein 1; BTEB; BTEB1; GC-box-binding protein 1; Krueppel-like factor 9; Kruppel like factor 9; Kruppel-like factor 9; transcription factor BTEB1
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
GRCh38970,384,604 - 70,414,657 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl970,384,604 - 70,414,657 (-)EnsemblGRCh38hg38GRCh38
GRCh37972,999,520 - 73,029,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36972,189,333 - 72,219,393 (-)NCBINCBI36Build 36hg18NCBI36
Build 34970,229,068 - 70,259,127NCBI
Celera943,589,868 - 43,619,934 (-)NCBICelera
Cytogenetic Map9q21.12NCBI
HuRef942,839,584 - 42,869,749 (-)NCBIHuRef
CHM1_1973,146,053 - 73,176,110 (-)NCBICHM1_1
T2T-CHM13v2.0982,551,421 - 82,581,475 (-)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
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (EXP,ISO)
acetaldehyde  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allicin  (EXP)
amitrole  (EXP,ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calciol  (ISO)
carbon nanotube  (ISO)
casticin  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dimethoate  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glucose  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
iodoacetic acid  (EXP)
irinotecan  (EXP)
ketamine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
levofloxacin  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercury dibromide  (EXP)
metformin  (ISO)
methimazole  (EXP,ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
niclosamide  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
valsartan  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
plasma membrane  (IDA)

References

References - curated
# Reference Title Reference Citation
1. Two regulatory proteins that bind to the basic transcription element (BTE), a GC box sequence in the promoter region of the rat P-4501A1 gene. Imataka H, etal., EMBO J 1992 Oct;11(10):3663-71.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7775404   PMID:8051167   PMID:8257632   PMID:8269949   PMID:8291025   PMID:11438660   PMID:12477932   PMID:12672823   PMID:15164053   PMID:15489334   PMID:16384861   PMID:17717078  
PMID:18056793   PMID:18224337   PMID:18426912   PMID:18477211   PMID:18783612   PMID:19274049   PMID:19322201   PMID:19375645   PMID:20410205   PMID:20463357   PMID:21280156   PMID:21543766  
PMID:21873635   PMID:21987111   PMID:22144178   PMID:22259059   PMID:22344221   PMID:22711835   PMID:23865345   PMID:24173774   PMID:24613345   PMID:24737412   PMID:24861553   PMID:25216959  
PMID:25217496   PMID:25242357   PMID:25288800   PMID:25305446   PMID:25313913   PMID:25330987   PMID:25641762   PMID:25652467   PMID:25686501   PMID:26045791   PMID:26760575   PMID:27956179  
PMID:28668877   PMID:28716732   PMID:29107105   PMID:29490146   PMID:29621541   PMID:30282030   PMID:30286177   PMID:30431124   PMID:30465532   PMID:30542730   PMID:30664687   PMID:30746617  
PMID:30849540   PMID:30913394   PMID:31128012   PMID:31425004   PMID:31782614   PMID:31821171   PMID:31841191   PMID:31894280   PMID:32196605   PMID:32596959   PMID:32633365   PMID:32694731  
PMID:32911017   PMID:33184061   PMID:33484127   PMID:33547545   PMID:34278459   PMID:34363722   PMID:34612136   PMID:35112997   PMID:35140242   PMID:35501825   PMID:35758280   PMID:35902862  
PMID:35985238   PMID:36098468   PMID:36109428   PMID:36550808   PMID:36719767   PMID:37010151   PMID:37258472   PMID:37400979   PMID:37833790   PMID:37904708   PMID:37909971   PMID:37962983  
PMID:38062733   PMID:38195623  


Genomics

Comparative Map Data
KLF9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38970,384,604 - 70,414,657 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl970,384,604 - 70,414,657 (-)EnsemblGRCh38hg38GRCh38
GRCh37972,999,520 - 73,029,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36972,189,333 - 72,219,393 (-)NCBINCBI36Build 36hg18NCBI36
Build 34970,229,068 - 70,259,127NCBI
Celera943,589,868 - 43,619,934 (-)NCBICelera
Cytogenetic Map9q21.12NCBI
HuRef942,839,584 - 42,869,749 (-)NCBIHuRef
CHM1_1973,146,053 - 73,176,110 (-)NCBICHM1_1
T2T-CHM13v2.0982,551,421 - 82,581,475 (-)NCBIT2T-CHM13v2.0
Klf9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391923,118,590 - 23,145,493 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1923,118,590 - 23,145,498 (+)EnsemblGRCm39 Ensembl
GRCm381923,141,226 - 23,168,129 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1923,141,226 - 23,168,134 (+)EnsemblGRCm38mm10GRCm38
MGSCv371923,215,716 - 23,241,401 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361923,208,323 - 23,234,008 (+)NCBIMGSCv36mm8
Celera1923,874,123 - 23,899,734 (+)NCBICelera
Cytogenetic Map19BNCBI
cM Map1917.9NCBI
Klf9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81230,126,646 - 230,151,641 (+)NCBIGRCr8
mRatBN7.21220,700,108 - 220,725,110 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1220,700,108 - 220,725,037 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1229,139,267 - 229,164,252 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01236,069,326 - 236,094,314 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01228,887,366 - 228,912,356 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01240,908,483 - 240,933,198 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1240,908,483 - 240,933,198 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01248,193,534 - 248,218,136 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41226,420,949 - 226,446,376 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11226,584,971 - 226,610,399 (+)NCBI
Celera1217,916,709 - 217,941,816 (+)NCBICelera
Cytogenetic Map1q51NCBI
Klf9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554342,685,416 - 2,716,669 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554342,685,416 - 2,716,669 (+)NCBIChiLan1.0ChiLan1.0
KLF9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21169,584,860 - 69,617,616 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1969,590,799 - 69,620,489 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0954,387,404 - 54,417,095 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1969,142,283 - 69,170,658 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl969,142,283 - 69,170,664 (-)Ensemblpanpan1.1panPan2
KLF9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1187,109,310 - 87,164,636 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl187,109,450 - 87,111,525 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha187,581,041 - 87,603,438 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0187,660,844 - 87,683,331 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl187,660,922 - 87,683,173 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1187,315,854 - 87,338,222 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0187,021,569 - 87,044,167 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0187,779,152 - 87,801,513 (+)NCBIUU_Cfam_GSD_1.0
Klf9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947134,624,963 - 134,652,341 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365036,517,687 - 6,548,336 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365036,517,748 - 6,553,532 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLF9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1223,720,435 - 223,748,621 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11223,723,613 - 223,747,661 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21250,030,719 - 250,054,070 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLF9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11281,451,210 - 81,481,384 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1281,454,394 - 81,480,094 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603869,866,543 - 69,896,756 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Klf9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247362,654,220 - 2,682,673 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247362,653,336 - 2,682,677 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KLF9
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12		 likely pathogenic
GRCh38/hg38 9q21.12-21.13(chr9:70397983-71984116)x1 copy number loss See cases [RCV000137488] Chr9:70397983..71984116 [GRCh38]
Chr9:73012899..74599032 [GRCh37]
Chr9:72202719..73788852 [NCBI36]
Chr9:9q21.12-21.13		 uncertain significance
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.12(chr9:72628750-73183334)x3 copy number gain See cases [RCV000446264] Chr9:72628750..73183334 [GRCh37]
Chr9:9q21.12		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_001206.4(KLF9):c.86T>G (p.Val29Gly) single nucleotide variant Inborn genetic diseases [RCV003288790] Chr9:70413278 [GRCh38]
Chr9:73028194 [GRCh37]
Chr9:9q21.12		 likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.12(chr9:72519550-73191986)x3 copy number gain not provided [RCV000845802] Chr9:72519550..73191986 [GRCh37]
Chr9:9q21.12		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13		 uncertain significance
NM_001206.4(KLF9):c.142G>C (p.Gly48Arg) single nucleotide variant Inborn genetic diseases [RCV002984866] Chr9:70413222 [GRCh38]
Chr9:73028138 [GRCh37]
Chr9:9q21.12		 uncertain significance
NM_001206.4(KLF9):c.80A>T (p.His27Leu) single nucleotide variant Inborn genetic diseases [RCV003286564] Chr9:70413284 [GRCh38]
Chr9:73028200 [GRCh37]
Chr9:9q21.12		 uncertain significance
GRCh37/hg19 9q21.12(chr9:72519172-73192366)x3 copy number gain not provided [RCV003484774] Chr9:72519172..73192366 [GRCh37]
Chr9:9q21.12		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1420
Count of miRNA genes:789
Interacting mature miRNAs:943
Transcripts:ENST00000377126
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D9S2095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37973,000,073 - 73,000,222UniSTSGRCh37
Build 36972,189,893 - 72,190,042RGDNCBI36
Celera943,590,428 - 43,590,577RGD
Cytogenetic Map9q13UniSTS
HuRef942,840,144 - 42,840,293UniSTS
RH80755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37973,002,454 - 73,002,700UniSTSGRCh37
Build 36972,192,274 - 72,192,520RGDNCBI36
Celera943,592,809 - 43,593,055RGD
Cytogenetic Map9q13UniSTS
HuRef942,842,525 - 42,842,771UniSTS
WI-20373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,999,565 - 72,999,781UniSTSGRCh37
Build 36972,189,385 - 72,189,601RGDNCBI36
Celera943,589,920 - 43,590,136RGD
Cytogenetic Map9q13UniSTS
HuRef942,839,636 - 42,839,852UniSTS
GeneMap99-GB4 RH Map9244.4UniSTS
Whitehead-RH Map9279.1UniSTS
NCBI RH Map9655.8UniSTS
D9S2058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37973,022,039 - 73,022,169UniSTSGRCh37
Build 36972,211,859 - 72,211,989RGDNCBI36
Celera943,612,401 - 43,612,531RGD
Cytogenetic Map9q13UniSTS
HuRef942,862,117 - 42,862,247UniSTS
GeneMap99-G3 RH Map91981.0UniSTS


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 2314 2381 1652 562 956 400 4149 2102 3196 349 1271 1471 164 1204 2778 2 1
Low 112 609 71 60 968 63 206 93 533 68 183 138 10 1 10 3 1
Below cutoff 11 1 3 2 11 2 2 1 3 2 4 4 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000377126   ⟹   ENSP00000366330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,384,604 - 70,414,657 (-)Ensembl
RefSeq Acc Id: NM_001206   ⟹   NP_001197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38970,384,604 - 70,414,657 (-)NCBI
GRCh37972,999,513 - 73,029,573 (-)ENTREZGENE
Build 36972,189,333 - 72,219,393 (-)NCBI Archive
HuRef942,839,584 - 42,869,749 (-)ENTREZGENE
CHM1_1973,146,053 - 73,176,110 (-)NCBI
T2T-CHM13v2.0982,551,421 - 82,581,475 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001197   ⟸   NM_001206
- UniProtKB: B2R943 (UniProtKB/Swiss-Prot),   Q16196 (UniProtKB/Swiss-Prot),   Q13886 (UniProtKB/Swiss-Prot),   B5BUG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000366330   ⟸   ENST00000377126
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13886-F1-model_v2 AlphaFold Q13886 1-244 view protein structure

Promoters
RGD ID:7215229
Promoter ID:EPDNEW_H13361
Type:initiation region
Name:KLF9_1
Description:Kruppel like factor 9
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
GRCh38970,413,952 - 70,414,012EPDNEW
RGD ID:6807833
Promoter ID:HG_KWN:63625
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,   NB4
Transcripts:OTTHUMT00000052602
Position:
Human AssemblyChrPosition (strand)Source
Build 36972,217,646 - 72,218,972 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1123 AgrOrtholog
COSMIC KLF9 COSMIC
Ensembl Genes ENSG00000119138 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377126 ENTREZGENE
  ENST00000377126.4 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119138 GTEx
HGNC ID HGNC:1123 ENTREZGENE
Human Proteome Map KLF9 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:687 UniProtKB/Swiss-Prot
NCBI Gene 687 ENTREZGENE
OMIM 602902 OMIM
PANTHER KRUEPPEL-LIKE FACTOR 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRUEPPEL-LIKE TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25444 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R943 ENTREZGENE
  B5BUG8 ENTREZGENE, UniProtKB/TrEMBL
  KLF9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16196 ENTREZGENE
UniProt Secondary B2R943 UniProtKB/Swiss-Prot
  Q16196 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-07-11 KLF9  KLF transcription factor 9  KLF9  Kruppel like factor 9  Symbol and/or name change 19259463 PROVISIONAL
2016-06-07 KLF9  Kruppel like factor 9  KLF9  Kruppel-like factor 9  Symbol and/or name change 5135510 APPROVED