KLF13 KLF transcription factor 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLF13provided by HGNC
Official Full Name: KLF transcription factor 13provided by HGNC
Primary source: HGNC:HGNC:13672
See related: Ensembl:ENSG00000169926 MIM:605328; AllianceGenome:HGNC:13672
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BTEB3; FKLF2; NSLP1; RFLAT1; RFLAT-1
Summary: KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 34.5), lung (RPKM 27.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (31326835..31435665)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (29120947..29230012)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (31619038..31727868)

Chromosome 15 - NC_000015.10 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 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?

KLF13 restrains Dll4-muscular Notch2 axis to improve the muscle atrophy.
Title: KLF13 restrains Dll4-muscular Notch2 axis to improve the muscle atrophy.
Kruppel-like factor 13 acts as a tumor suppressor in thyroid carcinoma by downregulating IFIT1.
Title: Kruppel-like factor 13 acts as a tumor suppressor in thyroid carcinoma by downregulating IFIT1.
Kruppel-like Factors 3 Regulates Migration and Invasion of Gastric Cancer Cells Through NF-kappaB Pathway.
Title: Kruppel-like Factors 3 Regulates Migration and Invasion of Gastric Cancer Cells Through NF-κB Pathway.
UC-BSCs Exosomes Regulate Th17/Treg Balance in Patients with Systemic Lupus Erythematosus via miR-19b/KLF13.
Title: UC-BSCs Exosomes Regulate Th17/Treg Balance in Patients with Systemic Lupus Erythematosus via miR-19b/KLF13.
KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.
Title: KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.
The inhibitory effect of LINC00261 upregulation on the pancreatic cancer EMT process is mediated by KLF13 via the mTOR signaling pathway.
Title: The inhibitory effect of LINC00261 upregulation on the pancreatic cancer EMT process is mediated by KLF13 via the mTOR signaling pathway.
KLF13 loss-of-function variation contributes to familial congenital heart defects.
Title: KLF13 loss-of-function variation contributes to familial congenital heart defects.
Molecular Mechanisms for Kruppel-Like Factor 13 Actions in Hippocampal Neurons.
Title: Molecular Mechanisms for Krüppel-Like Factor 13 Actions in Hippocampal Neurons.
Our results show that the S156N and P163S variants may affect the transcriptional function of KLF13 and physical interaction with TBX5. These results identified KLF13 as a potential genetic risk factor for congenital heart disease.
Title: Identification and analysis of KLF13 variants in patients with congenital heart disease.
Results show that cg07814318 methylation in blood was significantly associated with obesity and correlated with several obesity-related physical and biochemical traits. The exome sequencing of KLF13 gene in blood identified nine SNPs within its gene body, and two SNPs as cis-meQTL of cg07814318. The sequencing variations within KLF13 genes could drive dynamic modifications of obesity-related CpG methylation.
Title: Obesity-related CpG Methylation (cg07814318) of Kruppel-like Factor-13 (KLF13) Gene with Childhood Obesity and its cis-Methylation Quantitative Loci.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

Description	Tests
Chromosome 15q13.3 microdeletion syndrome MedGen: C2677613 OMIM: 612001 GeneReviews: 15q13.3 Recurrent Deletion	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. 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:224624

RH80027 (e-PCR)
- UniSTS:83699

RH123031 (e-PCR)
- UniSTS:135420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Krueppel-like factor 13

Names: BTE-binding protein 3; Kruppel like factor 13; RANTES factor of late activated T lymphocytes-1; basic transcription element binding protein 3; novel Sp1-like zinc finger transcription factor 1; transcription factor BTEB3; transcription factor NSLP1

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.

mRNA and Protein(s)

NM_001302461.2 → NP_001289390.1 Krueppel-like factor 13 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC012236, AF132599, AI084187, BX096457

UniProtKB/Swiss-Prot

Q9Y2Y9

Conserved Domains (2) summary

sd00017
Location:169 → 191

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:167 → 191

zf-C2H2; Zinc finger, C2H2 type
NM_015995.4 → NP_057079.2 Krueppel-like factor 13 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC012236, AF132599, AL390127, BC064552, BX474032

Consensus CDS

CCDS10025.1

UniProtKB/Swiss-Prot

Q9Y2Y9, Q9Y356

UniProtKB/TrEMBL

A0A087X1K6, X5DNR2

Related

ENSP00000302456.3, ENST00000307145.4

Conserved Domains (3) summary

COG5048
Location:162 → 252

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

sd00017
Location:169 → 191

ZF_C2H2; C2H2 Zn finger [structural motif]

cd21571
Location:7 → 168

KLF13_N; N-terminal domain of Kruppel-like factor 13

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

31326835..31435665

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_011332701.1 Reference GRCh38.p14 PATCHES

Range

3500207..3609057

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

3612659..3721509

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

29120947..29230012

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_033741.1: Suppressed sequence

Description

NR_033741.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.