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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZNF48 Gene

protein-coding GIFtS: 43
GCID: GC16P030389

zinc finger protein 48

(Previous name: zinc finger protein 553 )
(Previous symbol: ZNF553)

Search for ZNF48
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Zinc Finger Protein 48¹ ²
Zinc Finger Protein 553¹ ² ³
ZNF553¹ ² ³
DKFZp762K013¹
FLJ31751¹
MGC43952¹

External Ids:	HGNC: 13114¹	Entrez Gene: 197407²	Ensembl: ENSG00000180035⁷	UniProtKB: Q96MX3³

Export aliases for ZNF48 gene to outside databases

Previous GC identifers: GC16U990064 GC16P030315 GC16P030406 GC16P027968

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3

Function: May be involved in transcriptional regulation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ZNF48 gene promoter:
Bach1 HOXA9 HOXA9B Elk-1 AML1a p53 Tal-1beta Meis-1b AREB6 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNF48 promoter sequence

Search SABiosciences Chromatin IP Primers for ZNF48

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF48

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2

ZNF48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF48 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P030389: view genomic region (about GC identifiers)

Start:	30,389,427 bp from pter	End:	30,411,429 bp from pter
Size:	22,003 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3 (See protein sequence)

Recommended Name: Zinc finger protein 48

Size: 618 amino acids; 67820 Da

Subcellular location: Nucleus (Probable)

Sequence caution: Sequence=AAA61316.1; Type=Frameshift; Positions=168;

Secondary accessions: Q15920 Q4G0R3 Q69YP3 Q96IL9

Explore the universe of human proteins at neXtProt for ZNF48: NX_Q96MX3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96MX3

ZNF48 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001201835.1 NP_001201836.1 NP_001201838.1 NP_689865.2

ENSEMBL proteins:

ENSP00000417204 ENSP00000435674 ENSP00000432548 ENSP00000324056

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IEA	--

ZNF48 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ZNF48 for domains About GeneDecksing

3 InterPro domains/families:

IPR015880 Znf_C2H2-like

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry Q96MX3

ProtoNet protein and cluster: Q96MX3

UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3

Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family

Similarity: Contains 12 C2H2-type zinc fingers

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ZNF48_HUMAN, Q96MX3

Function: May be involved in transcriptional regulation

Genatlas biochemistry entry for ZNF48:

zinc finger protein 48 (C2H2 type,Kruppel-like)

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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0008270	zinc ion binding	IEA	--

ZNF48 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ZNF48:

Increased gamma-H2AX phosphory

Proliferating cells

Synthetic lethal with c-Myc af

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZNF48

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--

ZNF48 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ZNF48
Search CenterWatch for drugs/clinical trials and news about ZNF48

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for ZNF48 gene (4 alternative transcripts):

NM_001214906.1 NM_001214907.1 NM_001214909.1 NM_152652.2

Unigene Cluster for ZNF48:

Zinc finger protein 48

Hs.513501 [show with all ESTs]

Unigene Representative Sequence: NM_001214909

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000495929 ENST00000528032 ENST00000524644 ENST00000320159(uc021tgi.1 uc021tgj.1 uc021tgk.1 uc002dya.2)

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Additional cDNA sequence:

AK056313.1 AK122598.1 AL832433.1 BC007393.2 BC041388.1

6 DOTS entries:

DT.456115 DT.100778386 DT.91794137 DT.100736241 DT.100778387 DT.95264401

24/77 AceView cDNA sequences (see all 77):

AK122598 BU189252 CA434624 AI971330 AI367542 AL832433 CR613411 BE271315

AL521033 BG334890 BF125723 BU184069 BC007393 AI870369 AL521034 AW015384

BX461659 CB119030 BG762869 AI373122 BX455169 BX359433 NM_152652 CB161550

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for ZNF48 About this scheme

ExUns:	1	^	2	^	3a	·	3b
SP1:
SP2:

ECgene alternative splicing isoforms for ZNF48

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ZNF48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAAAGGTGG

About this image

ZNF48 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Caudal Endochondral Bones

Bone

Endochondral Facial Bones

Bone

Bone

Bone

Bone

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ZNF48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF48

SOURCE GeneReport for Unigene cluster: Hs.513501

SABiosciences Custom PCR Arrays for ZNF48

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for ZNF48 gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ZNF436⁶	--	51(a)	1 → many	AAWZ02041558(3671-4483)
zebrafish (Danio rerio)	Actinopterygii	CR382372.2⁶	--	46(a)	1 → many	4(28587019-28588287)

ENSEMBL Gene Tree for ZNF48 (if available)
TreeFam Gene Tree for ZNF48 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140269912^1,2	C,	--	30396498(+)	`TCTCA-/AATAA TAATAATAATAA`	2	--	int¹		0	--	--	--	--
rs142658483^1,2		--	30396498(+)	`TCTCA-/AATAATAA`	2	--	int¹		0	--	--	--	--
rs147621325^1,2		--	30396543(+)	`ATAAT-/ATAA ATAAA`	2	--	int¹		0	--	--	--	--
rs183824845^1,2		--	30396743(+)	`GAGATC/GGAGAC`	2	--	int¹		0	--	--	--	--
rs4788410^1,2	C,F,H,	--	30396805(+)	`GTTGGG/ATGTGG`	2	--	int¹		8		NA WA CSA	14
rs4788411^1,2	C,F,A,H,	--	30396815(+)	`GTGGCA/GCGTGC`	2	--	int¹		9		NA WA CSA	16
rs11448110^1,2	C,	--	30396900(+)	`GATCAC/-CACCA`	2	--	int¹		1		NA	2
rs33929091^1,2	C	--	30396902(+)	`ATCACC/-ACCAC`	2	--	int¹		1		NA	2
rs144317625^1,2	C,	--	30396955(+)	`AAAGG-/AAAAAA`	2	--	int¹		0	--	--	--	--
rs147075881^1,2		--	30396998(+)	`ACAAGC/TGTTTC`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ZNF48 (30389427 - 30411429 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ZNF48: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ZNF48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ZNF48)

Utopia: connect your pdf to the dynamic
world of online information

Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. (PubMed id 1505991)^{1, 2, 3} Lichter P....Ward D.C. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Characterization and mapping of human genes encoding zinc finger proteins. (PubMed id 1946370)¹ Bray P.L.... Dawid I.B. (1991)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 197407	HGNC: 13114	AceView: ZNF553	Ensembl:ENSG00000180035	euGenes: HUgn197407
ECgene: ZNF48	H-InvDB: ZNF48

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ZNF48	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZNF48 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ZNF48 gene:
Search GeneIP for patents involving ZNF48

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ZNF48 gene at Home site.

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ZNF48 Gene

zinc finger protein 48

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ZNF48 Gene

zinc finger protein 48

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