Human Gene ZNF423 (ENST00000563137.7_11) from GENCODE V47lift37

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Description: zinc finger protein 423, transcript variant 4 (from RefSeq NM_001379286.1)
Gencode Transcript: ENST00000563137.7_11
Gencode Gene: ENSG00000102935.12_18
Transcript (Including UTRs)
Position: hg19 chr16:49,521,435-49,890,023 Size: 368,589 Total Exon Count: 8 Strand: -
Coding Region
Position: hg19 chr16:49,525,186-49,889,685 Size: 364,500 Coding Exon Count: 8

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Other Species	mRNA Descriptions	Other Names
GeneReviews	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr16:49,521,435-49,890,023)			mRNA (may differ from genome)		Protein (1292 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

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: ZNF423 Diseases sorted by gene-association score: nephronophthisis 14* (1339), znf423-related joubert syndrome* (500), joubert syndrome with oculorenal anomalies* (202), nephronophthisis (11), leber congenital amaurosis (1), joubert syndrome 1 (1) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D003561 Cytarabine D004997 Ethinyl Estradiol D013749 Tetrachlorodibenzodioxin D014212 Tretinoin C006780 bisphenol A

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 3.35 RPKM in Brain - Cerebellum Total median expression: 93.03 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-191.80	338	-0.567	Picture	PostScript	Text
3' UTR	-1360.20	3751	-0.363	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.

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD	Ensembl

Descriptions from all associated GenBank mRNAs


	KC155256 - Homo sapiens cell-line C666-1 UBR5/ZNF423 fusion protein mRNA, complete cds. AB018303 - Homo sapiens mRNA for KIAA0760 protein, partial cds. AK304829 - Homo sapiens cDNA FLJ55885 complete cds, highly similar to Homo sapiens zinc finger protein 423 (ZNF423), mRNA. AK309835 - Homo sapiens cDNA, FLJ99876. AK027479 - Homo sapiens cDNA FLJ14573 fis, clone NT2RM4000734, highly similar to Homo sapiens zinc finger protein 423 (ZNF423), mRNA. BC112315 - Homo sapiens zinc finger protein 423, mRNA (cDNA clone MGC:138520 IMAGE:8327783), complete cds. BC112317 - Homo sapiens zinc finger protein 423, mRNA (cDNA clone MGC:138522 IMAGE:8327785), complete cds. AK314742 - Homo sapiens cDNA, FLJ95604. AB462926 - Synthetic construct DNA, clone: pF1KSDA0760, Homo sapiens ZNF423 gene for zinc finger protein 423, without stop codon, in Flexi system. HQ258687 - Synthetic construct Homo sapiens clone IMAGE:100072717 zinc finger protein 423 (ZNF423) gene, encodes complete protein. KJ898441 - Synthetic construct Homo sapiens clone ccsbBroadEn_07835 ZNF423 gene, encodes complete protein. AF221712 - Homo sapiens Smad- and Olf-interacting zinc finger protein mRNA, partial cds. JD058711 - Sequence 39735 from Patent EP1572962. JD273697 - Sequence 254721 from Patent EP1572962. JD284755 - Sequence 265779 from Patent EP1572962. JD445699 - Sequence 426723 from Patent EP1572962. JD051298 - Sequence 32322 from Patent EP1572962.

Other Names for This Gene


	Alternate Gene Symbols: A0A7P0Q1F0, A0A7P0Q1F0_HUMAN, ENST00000563137.1, ENST00000563137.2, ENST00000563137.3, ENST00000563137.4, ENST00000563137.5, ENST00000563137.6, NM_001379286, uc325rpi.1, uc325rpi.2, ZNF423 UCSC ID: ENST00000563137.7_11 RefSeq Accession: NM_001379286.1

GeneReviews for This Gene


	GeneReviews article(s) related to gene ZNF423: joubert (Joubert Syndrome) nephron-ov (Nephronophthisis-Related Ciliopathies)

Gene Model Information


	Click here for a detailed description of the fields of the table above.

Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.