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] See more...

Aliases for ZNF644 Gene

Aliases for ZNF644 Gene

  • Zinc Finger Protein 644 2 3 4 5
  • Zinc Finger Motif Enhancer Binding Protein 2 3
  • Zinc Finger Motif Enhancer-Binding Protein 2 4
  • KIAA1221 4
  • BM-005 3
  • MYP21 3
  • ZEP-2 3
  • Zep-2 4
  • NatF 3
  • ZEP2 4

External Ids for ZNF644 Gene

Previous GeneCards Identifiers for ZNF644 Gene

  • GC01M091093
  • GC01M091153
  • GC01M091380
  • GC01M089499

Summaries for ZNF644 Gene

Entrez Gene Summary for ZNF644 Gene

  • 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]

GeneCards Summary for ZNF644 Gene

ZNF644 (Zinc Finger Protein 644) is a Protein Coding gene. Diseases associated with ZNF644 include Myopia 21, Autosomal Dominant and Refractive Error. An important paralog of this gene is ZNF407.

UniProtKB/Swiss-Prot Summary for ZNF644 Gene

Gene Wiki entry for ZNF644 Gene

Additional gene information for ZNF644 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF644 Gene

Genomics for ZNF644 Gene

GeneHancer (GH) Regulatory Elements for ZNF644 Gene

Promoters and enhancers for ZNF644 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J091020 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 755.9 +1.4 1352 5 ZNF785 ZNF24 SP1 ZBTB40 CTCF RBPJ POLR2A USF2 NR2F1 ATF1 ZNF644 lnc-BARHL2-5 RF00017-264
GH01J091023 Promoter 0.3 Ensembl 750.6 -1.7 -1729 0.4 RPL5P6 lnc-BARHL2-5 ZNF644 piR-50357-007
GH01J091499 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.2 -479.3 -479302 3.4 ZBTB40 CTCF SMARCE1 POLR2A ZNF362 MYC ELF1 HLF L3MBTL2 CEBPB CDC7 HFM1 SNORD3G ZNF644 ACTBP12 ENSG00000229201 ENSG00000273487 SETSIP EPHX4 GLMN
GH01J091705 Enhancer 1 Ensembl dbSUPER 24.1 -684.0 -684029 1 SMARCE1 L3MBTL2 ZKSCAN8 ZNF148 GTF2F1 ZFX MLLT1 BACH1 CDC5L ZNF639 ZNF644 TGFBR3 lnc-HFM1-3 piR-39781-003
GH01J091882 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -862.9 -862928 5.2 ZNF785 CTCF ZBTB6 RBPJ POLR2A MIXL1 ZNF362 NFYC L3MBTL2 ZFP41 TGFBR3 lnc-SETSIP-3 GLMN HFM1 SNORA66 SNORD21 RPL5 RPAP2 ZNF644 KIAA1107
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF644 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZNF644 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • Nkx2-2

Genomic Locations for ZNF644 Gene

Genomic Locations for ZNF644 Gene
chr1:90,915,298-91,022,272
(GRCh38/hg38)
Size:
106,975 bases
Orientation:
Minus strand
chr1:91,380,855-91,487,829
(GRCh37/hg19)
Size:
106,975 bases
Orientation:
Minus strand

Genomic View for ZNF644 Gene

Genes around ZNF644 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF644 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF644 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF644 Gene

Proteins for ZNF644 Gene

  • Protein details for ZNF644 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H582-ZN644_HUMAN
    Recommended name:
    Zinc finger protein 644
    Protein Accession:
    Q9H582
    Secondary Accessions:
    • A2RU71
    • Q2TAM0
    • Q5TCC0
    • Q6BEP7
    • Q6P446
    • Q6PI06
    • Q7LG67
    • Q9ULJ9

    Protein attributes for ZNF644 Gene

    Size:
    1327 amino acids
    Molecular mass:
    149565 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ZNF644 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF644 Gene

Post-translational modifications for ZNF644 Gene

  • Ubiquitination at Lys843 and Lys1110
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZNF644 Gene

Domains & Families for ZNF644 Gene

Gene Families for ZNF644 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF644 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF644 Gene

GenScript: Design optimal peptide antigens:
  • ZNF644 protein (A7E234_HUMAN)
  • ZNF644 protein (Q569I6_HUMAN)
  • ZNF644 protein (Q8NEI6_HUMAN)
  • Zinc finger motif enhancer-binding protein 2 (ZN644_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H582

UniProtKB/Swiss-Prot:

ZN644_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF644: view

Function for ZNF644 Gene

Molecular function for ZNF644 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF644 Gene

Gene Ontology (GO) - Molecular Function for ZNF644 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF644: view
genes like me logo Genes that share phenotypes with ZNF644: view

Human Phenotype Ontology for ZNF644 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ZNF644 Gene

miRTarBase miRNAs that target ZNF644

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF644

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF644 Gene

Localization for ZNF644 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF644 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF644 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF644 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ZNF644: view

Pathways & Interactions for ZNF644 Gene

PathCards logo

SuperPathways for ZNF644 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF644 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ZNF644: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF644 Gene

Drugs & Compounds for ZNF644 Gene

No Compound Related Data Available

Transcripts for ZNF644 Gene

mRNA/cDNA for ZNF644 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF644

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF644 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - -
SP2: - - - - - - - -
SP3:
SP4: - - - - - -
SP5: - - - - -
SP6: - - -
SP7: -
SP8: - - -
SP9: - - - - -

Relevant External Links for ZNF644 Gene

GeneLoc Exon Structure for
ZNF644
ECgene alternative splicing isoforms for
ZNF644

Expression for ZNF644 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF644 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF644 Gene

This gene is overexpressed in Plasma (23.8), Lung (21.9), and Liver (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF644 Gene



Protein tissue co-expression partners for ZNF644 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZNF644 Gene:

ZNF644

SOURCE GeneReport for Unigene cluster for ZNF644 Gene:

Hs.173001

mRNA Expression by UniProt/SwissProt for ZNF644 Gene:

Q9H582-ZN644_HUMAN
Tissue specificity: Expressed in liver, placenta, retina and retinal pigment epithelium.

Evidence on tissue expression from TISSUES for ZNF644 Gene

  • Nervous system(4.6)
  • Intestine(4.2)
  • Skin(4.2)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF644 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ZNF644: view

No data available for mRNA differential expression in normal tissues for ZNF644 Gene

Orthologs for ZNF644 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF644 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF644 33 32
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF644 33 32
  • 93.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF644 33 32
  • 93.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp644 17 33 32
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Zfp644 32
  • 82.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF644 33
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZNF644 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF644 33 32
  • 80.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF644 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf644 32
  • 68.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8927 32
zebrafish
(Danio rerio)
Actinopterygii znf644b 33
  • 28 (a)
OneToOne
Species where no ortholog for ZNF644 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF644 Gene

ENSEMBL:
Gene Tree for ZNF644 (if available)
TreeFam:
Gene Tree for ZNF644 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF644: view image

Paralogs for ZNF644 Gene

Variants for ZNF644 Gene

Sequence variations from dbSNP and Humsavar for ZNF644 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1050960158 Myopia 21, autosomal dominant (MYP21) [MIM:614167] 90,938,487(-) G/A/C coding_sequence_variant, intron_variant, missense_variant
rs143932357 Myopia 21, autosomal dominant (MYP21) [MIM:614167] 90,940,629(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs146936371 pathogenic, Myopia 21, autosomal dominant, Myopia 21, autosomal dominant (MYP21) [MIM:614167] 90,939,595(-) T/A/C coding_sequence_variant, intron_variant, missense_variant
rs149597385 Myopia 21, autosomal dominant (MYP21) [MIM:614167] 90,940,441(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs193167060 Myopia 21, autosomal dominant (MYP21) [MIM:614167] 90,937,907(-) T/A/C coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ZNF644 Gene

Variant ID Type Subtype PubMed ID
esv3578008 CNV loss 25503493
nsv159370 CNV deletion 16902084
nsv947435 CNV duplication 23825009

Variation tolerance for ZNF644 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF644 Gene

Human Gene Mutation Database (HGMD)
ZNF644
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF644

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF644 Gene

Disorders for ZNF644 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ZNF644 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopia 21, autosomal dominant
  • myp21
refractive error
  • refractive errors
degenerative myopia
  • degenerative progressive high myopia
myopia
  • near vision
eye degenerative disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN644_HUMAN
  • Myopia 21, autosomal dominant (MYP21) [MIM:614167]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269 PubMed:21695231, ECO:0000269 PubMed:22539872, ECO:0000269 PubMed:24991186, ECO:0000269 PubMed:25525168}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZNF644

genes like me logo Genes that share disorders with ZNF644: view

No data available for Genatlas for ZNF644 Gene

Publications for ZNF644 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 56
  2. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. (PMID: 25525168) Jiang D … Zhang Q (Investigative ophthalmology & visual science 2014) 3 4 56
  3. New ZNF644 mutations identified in patients with high myopia. (PMID: 24991186) Xiang X … Hu Z (Molecular vision 2014) 3 4 56
  4. Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. (PMID: 22539872) Tran-Viet KN … Young TL (Molecular vision 2012) 3 4 56
  5. Exome sequencing identifies ZNF644 mutations in high myopia. (PMID: 21695231) Shi Y … Yang Z (PLoS genetics 2011) 3 4 56

Products for ZNF644 Gene

Sources for ZNF644 Gene