Human Gene ZNF596 (uc003wot.3)
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: ZN596_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 596;
FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus (Probable). SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 11 C2H2-type zinc fingers. SIMILARITY: Contains 1 KRAB domain. SEQUENCE CAUTION: Sequence=AAD05197.1; Type=Erroneous gene model prediction; Sequence=BAG36241.1; Type=Erroneous initiation;
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Primer design for this transcript
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Genetic Association Studies of Complex Diseases and Disorders
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Genetic Association Database (archive): ZNF596
CDC HuGE Published Literature: ZNF596
Positive Disease Associations: Blood Coagulation Factors
Related Studies: - Blood Coagulation Factors
Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903294]
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
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Comparative Toxicogenomics Database (CTD)
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The following chemicals interact with this gene
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Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure IPR001909 - Krueppel-associated_box
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd
Pfam Domains: PF00096 - Zinc finger, C2H2 type
PF01352 - KRAB box
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger
SCOP Domains: 48695 - Multiheme cytochromes
109640 - KRAB domain (Kruppel-associated box, Pfam 01352)
57667 - C2H2 and C2HC zinc fingers
57903 - FYVE/PHD zinc finger
ModBase Predicted Comparative 3D Structure on Q8TC21
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.
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Orthologous Genes in Other Species
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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.
Mouse | Rat | Zebrafish | D. melanogaster | C. elegans | S. cerevisiae |
No ortholog | No ortholog | No ortholog | No ortholog | No ortholog | No ortholog |
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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AK093442 - Homo sapiens cDNA FLJ36123 fis, clone TESTI2022874, weakly similar to ZINC FINGER PROTEIN 135. AX748129 - Sequence 1654 from Patent EP1308459. AK313454 - Homo sapiens cDNA, FLJ93998, highly similar to Homo sapiens zinc finger protein 596 (ZNF596), mRNA. BC026190 - Homo sapiens zinc finger protein 596, mRNA (cDNA clone MGC:33349 IMAGE:4837032), complete cds. JD263270 - Sequence 244294 from Patent EP1572962. JD146410 - Sequence 127434 from Patent EP1572962. CU693158 - Synthetic construct Homo sapiens gateway clone IMAGE:100019685 5' read ZNF596 mRNA. KJ903958 - Synthetic construct Homo sapiens clone ccsbBroadEn_13352 ZNF596 gene, encodes complete protein. JD314816 - Sequence 295840 from Patent EP1572962. JD314817 - Sequence 295841 from Patent EP1572962. JD314816 - Sequence 295840 from Patent EP1572962. JD314817 - Sequence 295841 from Patent EP1572962. JD357327 - Sequence 338351 from Patent EP1572962. JD101794 - Sequence 82818 from Patent EP1572962. JD085437 - Sequence 66461 from Patent EP1572962. JD257476 - Sequence 238500 from Patent EP1572962. JD088451 - Sequence 69475 from Patent EP1572962. JD133459 - Sequence 114483 from Patent EP1572962. JD541041 - Sequence 522065 from Patent EP1572962.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: B2R8P4, NM_173539, NP_775810, O95015, Q8N9X0, Q8TC21, ZN596_HUMAN UCSC ID: uc003wot.3 RefSeq Accession: NM_173539
Protein: Q8TC21
(aka ZN596_HUMAN)
CCDS: CCDS5951.2
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Gene Model Information
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category:
| coding
| nonsense-mediated-decay:
| no
| RNA accession:
| NM_173539.2
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exon count:
| 6 | CDS single in 3' UTR:
| no
| RNA size:
| 2795 |
ORF size:
| 1515 | CDS single in intron:
| no
| Alignment % ID:
| 100.00 |
txCdsPredict score:
| 2813.00 | frame shift in genome:
| no
| % Coverage:
| 99.46 |
has start codon:
| yes
| stop codon in genome:
| no
| # of Alignments:
| 1 |
has end codon:
| yes
| retained intron:
| no
| # AT/AC introns
| 0 |
selenocysteine:
| no
| end bleed into intron:
| 0 | # strange splices:
| 0 |
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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