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YAF2 YY1 associated factor 2 [ Homo sapiens (human) ]

Gene ID: 10138, updated on 3-Apr-2024

Summary

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Official Symbol
YAF2provided by HGNC
Official Full Name
YY1 associated factor 2provided by HGNC
Primary source
HGNC:HGNC:17363
See related
Ensembl:ENSG00000015153 MIM:607534; AllianceGenome:HGNC:17363
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
Summary
This gene encodes a zinc finger containing protein that functions in the regulation of transcription. This protein was identified as an interacting partner of transcriptional repressor protein Yy1, and also interacts with other transcriptional regulators, including Myc and Polycomb. This protein can promote proteolysis of Yy1. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in heart (RPKM 3.8), brain (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

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See YAF2 in Genome Data Viewer
Location:
12q12
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (42157104..42238248, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (42115009..42196195, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (42550906..42632050, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4356 Neighboring gene ATP synthase subunit C lysine N-methyltransferase-like Neighboring gene glucoside xylosyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6209 Neighboring gene MPRA-validated peak1683 silencer Neighboring gene MPRA-validated peak1686 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:42631341-42631842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4362 Neighboring gene uncharacterized LOC124902920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4363 Neighboring gene insulin like growth factor 2 mRNA binding protein 2 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner. Zhang S, et al. Biochem Biophys Res Commun, 2021 May 21. PMID 33784512
  2. miR-34b inhibits the migration/invasion and promotes apoptosis of non-small-cell lung cancer cells by YAF2. Zhuang XF, et al. Eur Rev Med Pharmacol Sci, 2019 Mar. PMID 30915747
  3. NEAT1 enhances MPP(+) -induced pyroptosis in a cell model of Parkinson's disease via targeting miR-5047/YAF2 signaling. Shen H, et al. Immun Inflamm Dis, 2023 Jun. PMID 37382256, Free PMC Article
  4. A LINC00341-mediated regulatory pathway supports chondrocyte survival and may prevent osteoarthritis progression. Yang Q, et al. J Cell Biochem, 2019 Jun. PMID 30672021
  5. Functional interaction of Yaf2 with the central region of MycN. Bannasch D, et al. Oncogene, 2001 Sep 13. PMID 11593398

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NEAT1 enhances MPP[+] -induced pyroptosis in a cell model of Parkinson's disease via targeting miR-5047/YAF2 signaling.
    Title: NEAT1 enhances MPP(+) -induced pyroptosis in a cell model of Parkinson's disease via targeting miR-5047/YAF2 signaling.
  2. YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner.
    Title: YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner.
  3. miR-34b inhibits the migration/invasion and promotes apoptosis of non-small-cell lung cancer cells by YAF2.
    Title: miR-34b inhibits the migration/invasion and promotes apoptosis of non-small-cell lung cancer cells by YAF2.
  4. LINC00341 interacts with miR-141 to suppress its functional binding to the 3'-untranslated region of YAF2 messenger RNA whereby supporting chondrocyte survival and preventing osteoarthritis progression.
    Title: A LINC00341-mediated regulatory pathway supports chondrocyte survival and may prevent osteoarthritis progression.
  5. These findings uncovered an apoptotic signaling cascade linking YAF2, PDCD5, and TP53 during genotoxic stress responses.
    Title: YAF2 promotes TP53-mediated genotoxic stress response via stabilization of PDCD5.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
  8. YEAF1/RYBP and YAF-2 are functionally distinct members of a cofactor family for the YY1 and E4TF1/hGABP transcription factors.
    Title: YEAF1/RYBP and YAF-2 are functionally distinct members of a cofactor family for the YY1 and E4TF1/hGABP transcription factors.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC41856, DKFZp779H1820

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 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 transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
YY1-associated factor 2

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)

  1. NM_001190977.3 → NP_001177906.1  YY1-associated factor 2 isoform 3

    See identical proteins and their annotated locations for NP_001177906.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive in-frame exons compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC020629, AK294260, BC037777
    Consensus CDS
    CCDS53778.1
    UniProtKB/Swiss-Prot
    Q8IY57
    Related
    ENSP00000370167.4, ENST00000380790.4
    Conserved Domains (1) summary
    pfam17219
    Location:60 → 92
    YAF2_RYBP; Yaf2/RYBP C-terminal binding motif

  2. NM_001190979.3 → NP_001177908.1  YY1-associated factor 2 isoform 1

    See identical proteins and their annotated locations for NP_001177908.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC020629, BC037777, HY111766
    Consensus CDS
    CCDS53779.1
    UniProtKB/Swiss-Prot
    Q8IY57
    Related
    ENSP00000328004.5, ENST00000327791.8
    Conserved Domains (3) summary
    sd00029
    Location:23 → 42
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    pfam00641
    Location:20 → 43
    zf-RanBP; Zn-finger in Ran binding protein and others
    pfam17219
    Location:126 → 158
    YAF2_RYBP; Yaf2/RYBP C-terminal binding motif

  3. NM_001190980.3 → NP_001177909.1  YY1-associated factor 2 isoform 4

    See identical proteins and their annotated locations for NP_001177909.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 3' exons, and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) is shorter and has a distinct C-terminus, as compared to isoform (1).
    Source sequence(s)
    AC020629, AK127531
    Consensus CDS
    CCDS53780.1
    UniProtKB/Swiss-Prot
    Q8IY57
    Related
    ENSP00000451626.2, ENST00000555248.2
    Conserved Domains (2) summary
    sd00029
    Location:23 → 42
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    pfam00641
    Location:20 → 43
    zf-RanBP; Zn-finger in Ran binding protein and others

  4. NM_001320080.2 → NP_001307009.1  YY1-associated factor 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon and initiates translation at an alternate downstream start codon compared to variant 1. The resulting isoform (5) has a distinct N-terminus and is shorter, compared to isoform 1.
    Source sequence(s)
    AC020629, AK296191
    UniProtKB/TrEMBL
    B4DJQ9
    Conserved Domains (1) summary
    pfam17219
    Location:93 → 125
    YAF2_RYBP; Yaf2/RYBP C-terminal binding motif

  5. NM_005748.6 → NP_005739.2  YY1-associated factor 2 isoform 2

    See identical proteins and their annotated locations for NP_005739.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA789222, AC020629, DA011078
    Consensus CDS
    CCDS31775.1
    UniProtKB/Swiss-Prot
    A8K5P0, B4DFU3, G3V465, Q8IY57, Q99710
    Related
    ENSP00000439256.2, ENST00000534854.7
    Conserved Domains (3) summary
    sd00029
    Location:23 → 42
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    pfam00641
    Location:20 → 43
    zf-RanBP; Zn-finger in Ran binding protein and others
    pfam17219
    Location:102 → 134
    YAF2_RYBP; Yaf2/RYBP C-terminal binding motif

RNA

  1. NR_135139.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020629, CB993159, DA491895, HY111766

  2. NR_135140.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains two alternate internal exons and uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC020629, BC037777, CB963485, DA491895, HY111766

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    42157104..42238248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537728.4 → XP_011536030.1  YY1-associated factor 2 isoform X1

    Conserved Domains (2) summary
    sd00029
    Location:23 → 42
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    pfam00641
    Location:20 → 43
    zf-RanBP; Zn-finger in Ran binding protein and others

  2. XM_047428049.1 → XP_047284005.1  YY1-associated factor 2 isoform X4

  3. XM_047428048.1 → XP_047284004.1  YY1-associated factor 2 isoform X2

  4. XM_006719185.4 → XP_006719248.1  YY1-associated factor 2 isoform X3

    Conserved Domains (1) summary
    pfam17219
    Location:99 → 131
    YAF2_RYBP; Yaf2/RYBP C-terminal binding motif

  5. XM_011537729.3 → XP_011536031.1  YY1-associated factor 2 isoform X5

    Conserved Domains (1) summary
    pfam17219
    Location:81 → 113
    YAF2_RYBP; Yaf2/RYBP C-terminal binding motif

  6. XM_017018670.3 → XP_016874159.1  YY1-associated factor 2 isoform X6

    UniProtKB/TrEMBL
    G3V212
    Related
    ENSP00000450097.1, ENST00000552928.5
    Conserved Domains (2) summary
    sd00029
    Location:23 → 42
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    pfam00641
    Location:20 → 43
    zf-RanBP; Zn-finger in Ran binding protein and others

RNA

  1. XR_944467.4 RNA Sequence

  2. XR_007063026.1 RNA Sequence

  3. XR_001748538.2 RNA Sequence

  4. XR_001748537.2 RNA Sequence

  5. XR_002957279.2 RNA Sequence

  6. XR_007063027.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    42115009..42196195 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370722.1 → XP_054226697.1  YY1-associated factor 2 isoform X1

  2. XM_054370723.1 → XP_054226698.1  YY1-associated factor 2 isoform X2

  3. XM_054370724.1 → XP_054226699.1  YY1-associated factor 2 isoform X3

  4. XM_054370725.1 → XP_054226700.1  YY1-associated factor 2 isoform X5

  5. XM_054370726.1 → XP_054226701.1  YY1-associated factor 2 isoform X6

    UniProtKB/TrEMBL
    G3V212

RNA

  1. XR_008488502.1 RNA Sequence

  2. XR_008488504.1 RNA Sequence

  3. XR_008488503.1 RNA Sequence

  4. XR_008488505.1 RNA Sequence

  5. XR_008488501.1 RNA Sequence

  6. XR_008488506.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001012424.1: Suppressed sequence

    Description
    NM_001012424.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IY57.3 GenPept UniProtKB/Swiss-Prot:Q8IY57

Gene LinkOut

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