Human Gene ZNF644 (ENST00000337393.10) from GENCODE V44
  Description: Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA. (from RefSeq NM_201269)
RefSeq Summary (NM_201269): 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].
Gencode Transcript: ENST00000337393.10
Gencode Gene: ENSG00000122482.22
Transcript (Including UTRs)
   Position: hg38 chr1:90,915,304-91,022,035 Size: 106,732 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr1:90,916,798-90,982,353 Size: 65,556 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:90,915,304-91,022,035)mRNA (may differ from genome)Protein (1327 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN644_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 644; AltName: Full=Zinc finger motif enhancer-binding protein 2; Short=Zep-2;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in liver, placenta, retina and retinal pigment epithelium.
DISEASE: Defects in ZNF644 are the cause of myopia type 21 (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.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 7 C2H2-type zinc fingers.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF644
Diseases sorted by gene-association score: myopia 21, autosomal dominant* (1231), myopia (25), refractive error (18), degenerative myopia (16), spermatocele (12), eye degenerative disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.29 RPKM in Nerve - Tibial
Total median expression: 221.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.4063-0.181 Picture PostScript Text
3' UTR -307.901494-0.206 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

ModBase Predicted Comparative 3D Structure on Q9H582
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC050656 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone IMAGE:6143167), complete cds.
BC150177 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone MGC:164892 IMAGE:40148078), complete cds.
BC132778 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone MGC:164409 IMAGE:40146800), complete cds.
BC132776 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone MGC:164407 IMAGE:40146798), complete cds.
BC063683 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone IMAGE:4396136), partial cds.
BC041138 - Homo sapiens cDNA clone IMAGE:5588399, containing frame-shift errors.
AK291520 - Homo sapiens cDNA FLJ76561 complete cds, highly similar to Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 2, mRNA.
KJ899757 - Synthetic construct Homo sapiens clone ccsbBroadEn_09151 ZNF644 gene, encodes complete protein.
AB384584 - Synthetic construct DNA, clone: pF1KA1221, Homo sapiens ZNF644 gene for zinc finger protein 644, complete cds, without stop codon, in Flexi system.
AB019255 - Homo sapiens mRNA for Zinc finger motif Enhancer binding Protein-2, complete cds.
BC092462 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone IMAGE:30334773), partial cds.
AK024026 - Homo sapiens cDNA FLJ13964 fis, clone Y79AA1001312, weakly similar to ZINC FINGER PROTEIN MLZ-4.
AB033047 - Homo sapiens mRNA for KIAA1221 protein, partial cds.
AK001587 - Homo sapiens cDNA FLJ10725 fis, clone NT2RP3001214.
JD359600 - Sequence 340624 from Patent EP1572962.
JD491499 - Sequence 472523 from Patent EP1572962.
AK023596 - Homo sapiens cDNA FLJ13534 fis, clone PLACE1006445.
JD062104 - Sequence 43128 from Patent EP1572962.
BC031003 - Homo sapiens zinc finger protein 644, mRNA (cDNA clone IMAGE:4043043), partial cds.
JD247244 - Sequence 228268 from Patent EP1572962.
JD043072 - Sequence 24096 from Patent EP1572962.
JD166406 - Sequence 147430 from Patent EP1572962.
JD564556 - Sequence 545580 from Patent EP1572962.
JD182032 - Sequence 163056 from Patent EP1572962.
JD089765 - Sequence 70789 from Patent EP1572962.
JD485259 - Sequence 466283 from Patent EP1572962.
AF208847 - Homo sapiens BM-005 mRNA, complete cds.
JD448954 - Sequence 429978 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RU71, ENST00000337393.1, ENST00000337393.2, ENST00000337393.3, ENST00000337393.4, ENST00000337393.5, ENST00000337393.6, ENST00000337393.7, ENST00000337393.8, ENST00000337393.9, KIAA1221, NM_201269, Q2TAM0, Q5TCC0, Q6BEP7, Q6P446, Q6PI06, Q7LG67, Q9H582, Q9ULJ9, uc001dnw.1, uc001dnw.2, uc001dnw.3, uc001dnw.4, uc001dnw.5, ZEP2, ZN644_HUMAN
UCSC ID: ENST00000337393.10
RefSeq Accession: NM_201269
Protein: Q9H582 (aka ZN644_HUMAN)
CCDS: CCDS731.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.