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    ZNF644 zinc finger protein 644 [ Homo sapiens (human) ]

    Gene ID: 84146, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ZNF644provided by HGNC
    Official Full Name
    zinc finger protein 644provided by HGNC
    Primary source
    HGNC:HGNC:29222
    See related
    Ensembl:ENSG00000122482 MIM:614159; AllianceGenome:HGNC:29222
    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
    NatF; MYP21; ZEP-2; BM-005
    Summary
    The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.2), endometrium (RPKM 7.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF644 in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (90915304..91022035, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (90759864..90867341, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (91380861..91487592, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1063 Neighboring gene long intergenic non-protein coding RNA 1763 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:91356676-91357355 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91390503-91391117 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:91392347-91392959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:91393061-91393667 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:91393668-91394273 Neighboring gene phosphorylase kinase regulatory subunit alpha 1 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:91439231-91440124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91487399-91487948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91487949-91488498 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91486849-91487398 Neighboring gene ribosomal protein L5 pseudogene 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:91589111-91589852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:91654217-91654717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:91717359-91717859 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:91718677-91718849 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:91755191-91755405 Neighboring gene helicase for meiosis 1 Neighboring gene flap structure-specific endonuclease 1 pseudogene 1

    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 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. Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Tran-Viet KN, et al. Mol Vis, 2012. PMID 22539872, Free PMC Article
    2. New ZNF644 mutations identified in patients with high myopia. Xiang X, et al. Mol Vis, 2014. PMID 24991186, Free PMC Article
    3. Exome sequencing identifies ZNF644 mutations in high myopia. Shi Y, et al. PLoS Genet, 2011 Jun. PMID 21695231, Free PMC Article
    4. Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study. Wang H, et al. Eye (Lond), 2016 Jul. PMID 27034204, Free PMC Article
    5. Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell injury via miR-335-5p/HIPK1 axis. Gong J, et al. Environ Toxicol, 2022 Dec. PMID 36052886

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell injury via miR-335-5p/HIPK1 axis.
      Title: Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell injury via miR-335-5p/HIPK1 axis.
    2. Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated.
      Title: Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study.
    3. Data indicate zinc finger proteins ZNF644 and WIZ as two core subunits in the histone-lysine N-methyltransferase G9a/GLP complex, and interact with the transcription activation domain of G9a and GLP.
      Title: The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression.
    4. mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.
      Title: Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
    5. ZNF644 is associated with high myopia in a cohort from a Chinese population.
      Title: New ZNF644 mutations identified in patients with high myopia.
    6. Two novel variants in ZNF644 are associated with high-grade myopia in a US cohort.
      Title: Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.
    7. ZNF644 might be a causal gene for high myopia in a monogenic form.
      Title: Exome sequencing identifies ZNF644 mutations in high myopia.
    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

    Associated conditions

    Description Tests
    Myopia 21, autosomal dominant
    MedGen: C3279997 OMIM: 614167 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1221, MGC60165, MGC70410

    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 IDA
    Inferred from Direct Assay
    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
    		  
    enables transcription corepressor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 644
    Names
    zinc finger motif enhancer binding protein 2

    NCBI Reference Sequences (RefSeq)

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    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_029760.1 RefSeqGene

      Range
      5221..111952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016620.4 → NP_057704.2  zinc finger protein 644 isoform 2

      See identical proteins and their annotated locations for NP_057704.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AB033047, DA147194
      Consensus CDS
      CCDS732.1
      UniProtKB/Swiss-Prot
      Q9H582
      Related
      ENSP00000340828.5, ENST00000347275.9

    2. NM_032186.5 → NP_115562.3  zinc finger protein 644 isoform 2

      See identical proteins and their annotated locations for NP_115562.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AB033047, BI760689
      Consensus CDS
      CCDS732.1
      UniProtKB/Swiss-Prot
      Q9H582
      Related
      ENSP00000354659.5, ENST00000361321.5

    3. NM_201269.3 → NP_958357.1  zinc finger protein 644 isoform 1

      See identical proteins and their annotated locations for NP_958357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC132776, BC150177, BX477299
      Consensus CDS
      CCDS731.1
      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9
      UniProtKB/TrEMBL
      A7E234
      Related
      ENSP00000337008.5, ENST00000337393.10
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      90915304..91022035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542258.4 → XP_011540560.1  zinc finger protein 644 isoform X1

      See identical proteins and their annotated locations for XP_011540560.1

      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    2. XM_017002493.3 → XP_016857982.1  zinc finger protein 644 isoform X3

      UniProtKB/Swiss-Prot
      Q9H582

    3. XM_017002488.3 → XP_016857977.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9
      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    4. XM_005271257.6 → XP_005271314.1  zinc finger protein 644 isoform X1

      See identical proteins and their annotated locations for XP_005271314.1

      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    5. XM_047431972.1 → XP_047287928.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    6. XM_011542260.4 → XP_011540562.1  zinc finger protein 644 isoform X1

      See identical proteins and their annotated locations for XP_011540562.1

      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    7. XM_017002492.3 → XP_016857981.1  zinc finger protein 644 isoform X3

      UniProtKB/Swiss-Prot
      Q9H582

    8. XM_047431980.1 → XP_047287936.1  zinc finger protein 644 isoform X3

    9. XM_017002489.3 → XP_016857978.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9
      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    10. XM_005271260.6 → XP_005271317.1  zinc finger protein 644 isoform X1

      See identical proteins and their annotated locations for XP_005271317.1

      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    11. XM_047431965.1 → XP_047287921.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    12. XM_047431936.1 → XP_047287892.1  zinc finger protein 644 isoform X1

    13. XM_047431973.1 → XP_047287929.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    14. XM_047431938.1 → XP_047287894.1  zinc finger protein 644 isoform X1

    15. XM_017002491.3 → XP_016857980.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9
      UniProtKB/TrEMBL
      A7E234
      Related
      ENSP00000359469.1, ENST00000370440.5
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    16. XM_011542261.4 → XP_011540563.1  zinc finger protein 644 isoform X1

      See identical proteins and their annotated locations for XP_011540563.1

      UniProtKB/TrEMBL
      A7E234
      Conserved Domains (3) summary
      sd00017
      Location:498 → 518
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:412 → 432
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl19114
      Location:438 → 501
      RNAP_largest_subunit_N; Largest subunit of RNA polymerase (RNAP), N-terminal domain

    17. XM_047431962.1 → XP_047287918.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    18. XM_047431934.1 → XP_047287890.1  zinc finger protein 644 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      90759864..90867341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339106.1 → XP_054195081.1  zinc finger protein 644 isoform X3

    2. XM_054339097.1 → XP_054195072.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    3. XM_054339091.1 → XP_054195066.1  zinc finger protein 644 isoform X1

    4. XM_054339100.1 → XP_054195075.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    5. XM_054339102.1 → XP_054195077.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    6. XM_054339095.1 → XP_054195070.1  zinc finger protein 644 isoform X1

    7. XM_054339089.1 → XP_054195064.1  zinc finger protein 644 isoform X1

    8. XM_054339104.1 → XP_054195079.1  zinc finger protein 644 isoform X3

    9. XM_054339099.1 → XP_054195074.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    10. XM_054339090.1 → XP_054195065.1  zinc finger protein 644 isoform X1

    11. XM_054339101.1 → XP_054195076.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    12. XM_054339093.1 → XP_054195068.1  zinc finger protein 644 isoform X1

    13. XM_054339105.1 → XP_054195080.1  zinc finger protein 644 isoform X3

    14. XM_054339094.1 → XP_054195069.1  zinc finger protein 644 isoform X1

    15. XM_054339098.1 → XP_054195073.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    16. XM_054339092.1 → XP_054195067.1  zinc finger protein 644 isoform X1

    17. XM_054339103.1 → XP_054195078.1  zinc finger protein 644 isoform X2

      UniProtKB/Swiss-Prot
      A2RU71, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9

    18. XM_054339096.1 → XP_054195071.1  zinc finger protein 644 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H582.2 GenPept UniProtKB/Swiss-Prot:Q9H582

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