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

    Gene ID: 11279, updated on 2-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See KLF8 in Genome Data Viewer
    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_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:55700255-55700456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29682 Neighboring gene XAGE-4 protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20868 Neighboring gene Ras related GTP binding B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29684 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:55945424-55946623 Neighboring gene uncharacterized LOC124905192 Neighboring gene uncharacterized LOC124905193 Neighboring gene GOT2 pseudogene 6 Neighboring gene uncharacterized LOC124900486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:56140677-56141176 Neighboring gene ribosomal protein L23a pseudogene 83 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:56589763-56590390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29688 Neighboring gene uncharacterized LOC124905194 Neighboring gene ubiquilin 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138314, DKFZp686O08126

    General protein information

    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)

    NEW Try the new Transcript table

    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

    1. NG_011949.2 RefSeqGene

      Range
      329234..388409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159296.2NP_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:48216
      KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
    2. NM_001324099.1NP_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:43211
      KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
    3. NM_001324100.1NP_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:218271
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:222244
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:220244
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:236261
      zf-H2C2_2; Zinc-finger double domain
    4. NM_001324102.1NP_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:220346
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:276298
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:320345
      zf-H2C2_2; Zinc-finger double domain
      cd21440
      Location:48216
      KLF8_N; N-terminal domain of Kruppel-like factor 8
    5. NM_001324104.1NP_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
    6. NM_001324105.1NP_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:269339
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:273295
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:317342
      zf-H2C2_2; Zinc-finger double domain
      cd21440
      Location:45213
      KLF8_N; N-terminal domain of Kruppel-like factor 8
    7. NM_007250.5NP_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:220346
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:276298
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:320345
      zf-H2C2_2; Zinc-finger double domain
      cd21440
      Location:48216
      KLF8_N; N-terminal domain of Kruppel-like factor 8

    RNA

    1. NR_136704.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC031355, BC105130, BX322609
    2. NR_136705.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB209004, AL050309, BX322609

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      55908123..56291531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441797.1XP_047297753.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    2. XM_047441798.1XP_047297754.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    3. XM_006724575.3XP_006724638.1  Krueppel-like factor 8 isoform X3

      See identical proteins and their annotated locations for XP_006724638.1

      UniProtKB/Swiss-Prot
      O95600
      Conserved Domains (1) summary
      cl40450
      Location:48216
      KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
    4. XM_017029250.3XP_016884739.1  Krueppel-like factor 8 isoform X2

      Conserved Domains (4) summary
      COG5048
      Location:267337
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:271293
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:269293
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:315340
      zf-H2C2_2; Zinc-finger double domain
    5. XM_047441795.1XP_047297751.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    6. XM_047441799.1XP_047297755.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    7. XM_047441796.1XP_047297752.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    8. XM_047441800.1XP_047297756.1  Krueppel-like factor 8 isoform X2

    9. XM_024452332.2XP_024308100.1  Krueppel-like factor 8 isoform X4

      UniProtKB/TrEMBL
      Q05BZ3
      Related
      ENSP00000431911.1, ENST00000358094.7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      55201315..55584861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326416.1XP_054182391.1  Krueppel-like factor 8 isoform X2

    2. XM_054326412.1XP_054182387.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    3. XM_054326413.1XP_054182388.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    4. XM_054326417.1XP_054182392.1  Krueppel-like factor 8 isoform X2

    5. XM_054326418.1XP_054182393.1  Krueppel-like factor 8 isoform X2

    6. XM_054326410.1XP_054182385.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    7. XM_054326414.1XP_054182389.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    8. XM_054326411.1XP_054182386.1  Krueppel-like factor 8 isoform X1

      UniProtKB/Swiss-Prot
      B4DJN3, E7EQQ8, L0R3U8, L0R4U2, O95600, Q2M246, Q59GV5, Q5HYQ5, Q5JXP7, Q6MZJ7, Q9UGC4
    9. XM_054326419.1XP_054182394.1  Krueppel-like factor 8 isoform X3

    10. XM_054326415.1XP_054182390.1  Krueppel-like factor 8 isoform X2

    11. XM_054326420.1XP_054182395.1  Krueppel-like factor 8 isoform X4

      UniProtKB/TrEMBL
      Q05BZ3