KLF8 KLF transcription factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLF8provided by HGNC
Official Full Name: KLF transcription factor 8provided by HGNC
Primary source: HGNC:HGNC:6351
See related: Ensembl:ENSG00000102349 MIM:300286; AllianceGenome:HGNC:6351
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BKLF3; ZNF741
Summary: This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Expression: Broad expression in skin (RPKM 8.2), fat (RPKM 3.4) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (55908123..56291531)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (55201315..55584861)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (55934556..56317964)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KLF8 Promotes the Survival of Lung Adenocarcinoma During Nutrient Deprivation by Regulating the Pentose Phosphate Pathway through SIRT2.
Title: KLF8 Promotes the Survival of Lung Adenocarcinoma During Nutrient Deprivation by Regulating the Pentose Phosphate Pathway through SIRT2.
CircRNA PVT1 promotes proliferation and chemoresistance of osteosarcoma cells via the miR-24-3p/KLF8 axis.
Title: CircRNA PVT1 promotes proliferation and chemoresistance of osteosarcoma cells via the miR-24-3p/KLF8 axis.
KLF8 is activated by TGF-beta1 via Smad2 and contributes to ovarian cancer progression.
Title: KLF8 is activated by TGF-β1 via Smad2 and contributes to ovarian cancer progression.
Oncogenic E3 ubiquitin ligase NEDD4 binds to KLF8 and regulates the microRNA-132/NRF2 axis in bladder cancer.
Title: Oncogenic E3 ubiquitin ligase NEDD4 binds to KLF8 and regulates the microRNA-132/NRF2 axis in bladder cancer.
miR-24-3p/KLF8 Signaling Axis Contributes to LUAD Metastasis by Regulating EMT.
Title: miR-24-3p/KLF8 Signaling Axis Contributes to LUAD Metastasis by Regulating EMT.
Circ_0067934 promotes non-small cell lung cancer development by regulating miR-1182/KLF8 axis and activating Wnt/beta-catenin pathway.
Title: Circ_0067934 promotes non-small cell lung cancer development by regulating miR-1182/KLF8 axis and activating Wnt/β-catenin pathway.
Upregulated miRNA-1236-3p in osteosarcoma inhibits cell proliferation and induces apoptosis via targeting KLF8.
Title: Upregulated miRNA-1236-3p in osteosarcoma inhibits cell proliferation and induces apoptosis via targeting KLF8.
KLF8 promotes cancer stem cell-like phenotypes in osteosarcoma through miR-429-SOX2 signaling.
Title: KLF8 promotes cancer stem cell-like phenotypes in osteosarcoma through miR-429-SOX2 signaling.
KLF8 is associated with poor prognosis and regulates glycolysis by targeting GLUT4 in gastric cancer.
Title: KLF8 is associated with poor prognosis and regulates glycolysis by targeting GLUT4 in gastric cancer.
KLF8-overexpressing hepatocellular carcinoma cells had a higher potential for inducing angiogenesis. The up-regulation of KLF8 increased VEGFA protein levels and induced VEGFA promoter activity by binding to the CACCC region of the VEGFA promoter.
Title: Krüppel-like factor 8 regulates VEGFA expression and angiogenesis in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-12) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-12) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485935

DXS741 (e-PCR)
- UniSTS:59197

SHGC-68451 (e-PCR)
- UniSTS:95556

DXS741 (e-PCR)
- UniSTS:64341

DXS741 (e-PCR)
- UniSTS:71516

NIB723 (e-PCR)
- UniSTS:41078

SHGC-62967 (e-PCR)
- UniSTS:95368

DXS741 (e-PCR)
- UniSTS:147081

D21S1698 (e-PCR)
- UniSTS:150410

STS-H42415 (e-PCR)
- UniSTS:75227

WI-18614 (e-PCR)
- UniSTS:81390

D20S994 (e-PCR)
- UniSTS:154613

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in aggresome	IDA Inferred from Direct Assay more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: Krueppel-like factor 8

Names: Kruppel like factor 8; basic krueppel-like factor 3; basic kruppel-like factor 3; zinc finger protein 741

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011949.2 RefSeqGene

Range

329234..388409

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001159296.2 → NP_001152768.1 Krueppel-like factor 8 isoform 2

See identical proteins and their annotated locations for NP_001152768.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 3' coding region that causes a frameshift compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK296156, AL050309, BX322609, DA874419

Consensus CDS

CCDS55428.1

UniProtKB/Swiss-Prot

O95600

Related

ENSP00000364063.3, ENST00000374928.7

Conserved Domains (1) summary

cl40450
Location:48 → 216

KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
NM_001324099.1 → NP_001311028.1 Krueppel-like factor 8 isoform 3

Status: REVIEWED

Source sequence(s)

BC105130, BX322609, HF546208

Consensus CDS

CCDS87749.1

UniProtKB/Swiss-Prot

O95600

Related

ENSP00000492126.1, ENST00000640927.1

Conserved Domains (1) summary

cl40450
Location:43 → 211

KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
NM_001324100.1 → NP_001311029.1 Krueppel-like factor 8 isoform 4

Status: REVIEWED

Source sequence(s)

BC105130, BX322609, HF546209

UniProtKB/Swiss-Prot

O95600

Conserved Domains (4) summary

COG5048
Location:218 → 271

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:222 → 244

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:220 → 244

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:236 → 261

zf-H2C2_2; Zinc-finger double domain
NM_001324102.1 → NP_001311031.1 Krueppel-like factor 8 isoform 1

Status: REVIEWED

Source sequence(s)

AL050309, BX322609

Consensus CDS

CCDS14373.1

UniProtKB/Swiss-Prot

B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4

Conserved Domains (4) summary

COG5048
Location:220 → 346

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:276 → 298

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:320 → 345

zf-H2C2_2; Zinc-finger double domain

cd21440
Location:48 → 216

KLF8_N; N-terminal domain of Kruppel-like factor 8
NM_001324104.1 → NP_001311033.1 Krueppel-like factor 8 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (8) initiates at an upstream promoter compared to variant 1.

Source sequence(s)

AL050309, AL353698, AL445472, BX322609
NM_001324105.1 → NP_001311034.1 Krueppel-like factor 8 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (9) initiates at an upstream promoter compared to variant 1.

Source sequence(s)

AL050309, AL445472, BX322609

Conserved Domains (4) summary

COG5048
Location:269 → 339

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:273 → 295

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:317 → 342

zf-H2C2_2; Zinc-finger double domain

cd21440
Location:45 → 213

KLF8_N; N-terminal domain of Kruppel-like factor 8
NM_007250.5 → NP_009181.2 Krueppel-like factor 8 isoform 1

See identical proteins and their annotated locations for NP_009181.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 5 encode the same isoform (1).

Source sequence(s)

AL050309, BC105130, BX322609

Consensus CDS

CCDS14373.1

UniProtKB/Swiss-Prot

B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4

Related

ENSP00000417303.1, ENST00000468660.6

Conserved Domains (4) summary

COG5048
Location:220 → 346

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:276 → 298

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:320 → 345

zf-H2C2_2; Zinc-finger double domain

cd21440
Location:48 → 216

KLF8_N; N-terminal domain of Kruppel-like factor 8