Human Gene ZNF248 (ENST00000357328.8_7) from GENCODE V47lift37

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Description: zinc finger protein 248, transcript variant 21 (from RefSeq NM_001352485.1)
Gencode Transcript: ENST00000357328.8_7
Gencode Gene: ENSG00000198105.16_15
Transcript (Including UTRs)
Position: hg19 chr10:38,117,693-38,147,012 Size: 29,320 Total Exon Count: 6 Strand: -
Coding Region
Position: hg19 chr10:38,120,543-38,145,238 Size: 24,696 Coding Exon Count: 4

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

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

Sequence and Links to Tools and Databases

Genomic Sequence (chr10:38,117,693-38,147,012)			mRNA (may differ from genome)		Protein (579 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	MGI	PubMed	Reactome	UniProtKB	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: ZN248_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein 248; FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus (Probable). SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. SIMILARITY: Contains 8 C2H2-type zinc fingers. SIMILARITY: Contains 1 KRAB domain.

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

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D011794 Quercetin D013749 Tetrachlorodibenzodioxin C044887 beta-methylcholine

Common Gene Haplotype Alleles


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


	Highest median expression: 18.77 RPKM in Brain - Cerebellar Hemisphere Total median expression: 266.71 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	-66.40	205	-0.324	Picture	PostScript	Text
3' UTR	-735.20	2850	-0.258	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
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

SCOP Domains:
109640 - KRAB domain (Kruppel-associated box)
57667 - beta-beta-alpha zinc fingers
57783 - Zinc beta-ribbon
57889 - Cysteine-rich domain
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q8NDW4


Front	Top	Side

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.

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 Sorter	Gene Sorter
	RGD

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:0005622 intracellular GO:0005634 nucleus

Descriptions from all associated GenBank mRNAs


	BC146820 - Homo sapiens zinc finger protein 248, mRNA (cDNA clone IMAGE:8860427), complete cds. BC021819 - Homo sapiens zinc finger protein 248, mRNA (cDNA clone IMAGE:4940056), complete cds. BC110869 - Homo sapiens zinc finger protein 248, mRNA (cDNA clone IMAGE:5560819), complete cds. AJ491695 - Homo sapiens mRNA for zinc finger protein 248 (ZNF248 gene). BC132915 - Homo sapiens zinc finger protein 248, mRNA (cDNA clone MGC:164546 IMAGE:40146937), complete cds. BC132917 - Homo sapiens zinc finger protein 248, mRNA (cDNA clone MGC:164548 IMAGE:40146939), complete cds. AJ492196 - Homo sapiens mRNA for zinc finger protein 248 (ZNF248 gene). AK299357 - Homo sapiens cDNA FLJ50026 complete cds, highly similar to Zinc finger protein 248. KJ894413 - Synthetic construct Homo sapiens clone ccsbBroadEn_03807 ZNF248 gene, encodes complete protein. AB464385 - Synthetic construct DNA, clone: pF1KB8383, Homo sapiens ZNF248 gene for zinc finger protein 248, without stop codon, in Flexi system. KJ906274 - Synthetic construct Homo sapiens clone ccsbBroadEn_15944 ZNF248 gene, encodes complete protein. BC063550 - Homo sapiens cDNA clone IMAGE:4778151, partial cds. AL049341 - Homo sapiens mRNA; cDNA DKFZp566A163 (from clone DKFZp566A163). JD555415 - Sequence 536439 from Patent EP1572962. JD436229 - Sequence 417253 from Patent EP1572962. JD353665 - Sequence 334689 from Patent EP1572962. JD063232 - Sequence 44256 from Patent EP1572962. JD062752 - Sequence 43776 from Patent EP1572962. JD261292 - Sequence 242316 from Patent EP1572962. JD319073 - Sequence 300097 from Patent EP1572962. JD285746 - Sequence 266770 from Patent EP1572962. JD120074 - Sequence 101098 from Patent EP1572962. JD320815 - Sequence 301839 from Patent EP1572962. JD102259 - Sequence 83283 from Patent EP1572962. JD199003 - Sequence 180027 from Patent EP1572962. JD503466 - Sequence 484490 from Patent EP1572962. JD566501 - Sequence 547525 from Patent EP1572962. JD490824 - Sequence 471848 from Patent EP1572962. JD218750 - Sequence 199774 from Patent EP1572962. JD062242 - Sequence 43266 from Patent EP1572962. JD040631 - Sequence 21655 from Patent EP1572962. JD510043 - Sequence 491067 from Patent EP1572962. JD113435 - Sequence 94459 from Patent EP1572962. JD545708 - Sequence 526732 from Patent EP1572962. JD180386 - Sequence 161410 from Patent EP1572962. JD510417 - Sequence 491441 from Patent EP1572962. JD374743 - Sequence 355767 from Patent EP1572962. JD307817 - Sequence 288841 from Patent EP1572962. JD265481 - Sequence 246505 from Patent EP1572962. JD147060 - Sequence 128084 from Patent EP1572962. JD073114 - Sequence 54138 from Patent EP1572962. JD155644 - Sequence 136668 from Patent EP1572962. JD281808 - Sequence 262832 from Patent EP1572962. JD148038 - Sequence 129062 from Patent EP1572962. AK293936 - Homo sapiens cDNA FLJ53551 complete cds, highly similar to Zinc finger protein 248. JD244022 - Sequence 225046 from Patent EP1572962. AK293971 - Homo sapiens cDNA FLJ53532 complete cds, highly similar to Zinc finger protein 248. JD436464 - Sequence 417488 from Patent EP1572962. JD019163 - Sequence 187 from Patent EP1572962. JD032236 - Sequence 13260 from Patent EP1572962. JD506786 - Sequence 487810 from Patent EP1572962. JD250351 - Sequence 231375 from Patent EP1572962. JD360755 - Sequence 341779 from Patent EP1572962. HQ258623 - Synthetic construct Homo sapiens clone IMAGE:100073176 Unknown protein gene, encodes complete protein. JD069043 - Sequence 50067 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q8NDW4 (Reactome details) participates in the following event(s): R-HSA-975040 KRAB-ZNF / KAP Interaction R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)

Other Names for This Gene


	Alternate Gene Symbols: ENST00000357328.1, ENST00000357328.2, ENST00000357328.3, ENST00000357328.4, ENST00000357328.5, ENST00000357328.6, ENST00000357328.7, NM_001352485, Q8NDV8, Q8NDW4, Q9UMP3, uc317zzi.1, uc317zzi.2, ZN248_HUMAN UCSC ID: ENST00000357328.8_7 RefSeq Accession: NM_001267597.2 Protein: Q8NDW4 (aka ZN248_HUMAN or Z248_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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