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

Gene ID: 84146, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (90915304..91022035, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (90759864..90867341, complement)
105.20220307 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
  • 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. New ZNF644 mutations identified in patients with high myopia. Xiang X, et al. Mol Vis, 2014. PMID 24991186, Free PMC Article
  2. 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
  3. Exome sequencing identifies ZNF644 mutations in high myopia. Shi Y, et al. PLoS Genet, 2011 Jun. PMID 21695231, Free PMC Article
  4. 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
  5. 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

See all (55) 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
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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_2023_10

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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