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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZNF750 Gene

protein-coding GIFtS: 46
GCID: GC17M080787

zinc finger protein 750

Explore 6 diseases affiliated with
ZNF750 via

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 750¹ ²
FLJ13841¹ ⁵
Zfp750¹
ZFP750²
Protein ZNF750²

External Ids:	HGNC: 25843¹	Entrez Gene: 79755²	Ensembl: ENSG00000141579⁷	OMIM: 610226⁵	UniProtKB: Q32MQ0³

Export aliases for ZNF750 gene to outside databases

Previous GC identifers: GC17M078381 GC17M076189

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

Entrez Gene summary for ZNF750:

This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have

been associated with seborrhea-like dermatitis with psoriasiform elements. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0

Function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation:

acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to

the promoter of KLF4 and promotes its expression

(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_000017.10 NC_018928.1 NT_010663.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for ZNF750
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNF750 promoter sequence

Search SABiosciences Chromatin IP Primers for ZNF750

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF750

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

Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3

ZNF750 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF750 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M080787: view genomic region (about GC identifiers)

Start:	80,787,310 bp from pter	End:	80,798,454 bp from pter
Size:	11,145 bases	Orientation:	minus 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: ZN750_HUMAN, Q32MQ0 (See protein sequence)

Recommended Name: Zinc finger protein 750

Size: 723 amino acids; 77361 Da

Subcellular location: Nucleus

Secondary accessions: Q9H899

Explore the universe of human proteins at neXtProt for ZNF750: NX_Q32MQ0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q32MQ0

ZNF750 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_078978.2

ENSEMBL proteins:

ENSP00000269394 ENSP00000458389 ENSP00000467518

Reactome Protein details: Q32MQ0
Human Recombinant Protein Products:

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--

ZNF750 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

ZNF750 for domains About GeneDecksing

1 InterPro domain/family:

IPR015880 Znf_C2H2-like

Graphical View of Domain Structure for InterPro Entry Q32MQ0

ProtoNet protein and cluster: Q32MQ0

UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0

Similarity: Contains 1 C2H2-type zinc finger

(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: ZN750_HUMAN, Q32MQ0

Function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation:

acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to

the promoter of KLF4 and promotes its expression

Induction: During epidermal differentiation: expression is activated by p63/TP63

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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:0001046	core promoter sequence-specific DNA binding	IDA	--
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IDA	--
GO:0008270	zinc ion binding	IEA	--

ZNF750 for ontologies About GeneDecksing

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Reactome Pathways for ZNF750

	Generic Transcription Pathway
	Gene Expression

ZNF750 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZNF750

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008544	epidermis development	IMP	--
GO:0030154	cell differentiation	IEA	--
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	--

ZNF750 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 ZNF750
Search CenterWatch for drugs/clinical trials and news about ZNF750 / ZN750

(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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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ZNF750 gene:

NM_024702.2

Unigene Cluster for ZNF750:

Zinc finger protein 750

Hs.653124 [show with all ESTs]

Unigene Representative Sequence: NM_024702

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

ENST00000269394(uc002kga.3) ENST00000572562 ENST00000572763

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Additional cDNA sequence:

AK023903.1 AK301690.1 BC109036.1 BC109037.1

3 DOTS entries:

DT.120974002 DT.75125132 DT.120974052

20 AceView cDNA sequences:

AI421055 BG740012 AA463897 BP358803 NM_024702 AA463364 AK023903 AU141542

BF447231 BG945964 AI539029 AU159076 BP358831 AW449534 BI058857 AW793556

AW793615 BG998451 BF327009 BE185769

GeneLoc Exon Structure

(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

ZNF750 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATATTAAAA

About this image

ZNF750 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Cerebral Cortex

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ZNF750 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF750

SOURCE GeneReport for Unigene cluster: Hs.653124

UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0

Tissue specificity: Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not

expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not in

fibroblasts

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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 ZNF750 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ZNF750⁶	Uncharacterized protein	57(a)	1 ↔ 1	18(3283817-3286422)
lizard (Anolis carolinensis)	Reptilia	ZNF750⁶	--	51(a)	1 ↔ 1	2(108344075-108348249)
zebrafish (Danio rerio)	Actinopterygii	znf750¹	zinc finger protein 750	43.2(n) 34.52(a)		550483 NM_001017786.1 NP_001017786.1

ENSEMBL Gene Tree for ZNF750 (if available)
TreeFam Gene Tree for ZNF750 (if available)

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

Paralogs for ZNF750 gene

C16orf11²

ZNF750 for paralogs About GeneDecksing

(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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78315700^1,2	C,	--	76191822(+)	`TTTTTG/TGCTTC`	2	Q P	mis¹		0	--	--	--	--
rs113712631^1,2	--	--	76190198(+)	`GGACTG/AGAAGG`	2	/S	syn¹		1		CSA	2
rs60139844^1,2	--	--	76190052(+)	`AGAGAA/TTGAGT`	2	N I	mis¹		0	--	--	--	--
rs34566230^1,2	--	--	76190941(+)	`GTGATC/TGTATG`	2	N D	mis¹		1		NA	78
rs59535952^1,2	--	--	76190053(+)	`GAGATA/TGAGTG`	2	N Y	mis¹		0	--	--	--	--
rs111300300^1,2	--	--	76191125(+)	`GGGTAC/TTCTGG`	2	E	syn¹		1		CSA	2
rs35785432^1,2	--	--	76191548(+)	`AGCTTC/TGAGTC`	2	S	syn¹		1		NA	78

HapMap Linkage Disequilibrium report for ZNF750 (80787310 - 80798454 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ZNF750
1 CNV: 73078
Human Gene Mutation Database (HGMD): ZNF750

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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

ZNF750 for disorders           About GeneDecksing

OMIM gene information: 610226
OMIM disorders: 610227
UniProtKB/Swiss-Prot: ZN750_HUMAN, Q32MQ0

Defects in ZNF750 are the cause of Seborrhea-like dermatitis with psoriasiform (SLDP) [MIM:610227]. SLDP is

characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial

folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and

after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal

joints is evident. There is no arthralgia, arthritis or neurological disorders

6 diseases for ZNF750: About MalaCards

seborrhea-like dermatitis with psoriasiform elements dermatitis seborrheic dermatitis psoriasis

arthritis prostatitis

1 disease from the University of Copenhagen DISEASES database for ZNF750:

Seborrheic dermatitis

Export disorders for ZNF750 gene to outside databases

(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 ZNF750 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ZNF750)

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

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. (PubMed id 16751772)^{1, 2, 3} Birnbaum R.Y.... Birk O.S. (2006)
ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation. (PubMed id 22364861)^{1, 2} Sen G.L.... Khavari P.A. (2012)
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)
Association analysis identifies ZNF750 regulatory vari ants in psoriasis. (PubMed id 22185198)¹ Birnbaum R.Y....Liao W. (2011)
A promoter sequence variant of ZNF750 is linked with familial psoriasis. (PubMed id 18256691)¹ Yang C.F....Chen Y.T. (2008)
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)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
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)

(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: 79755	HGNC: 25843	AceView: FLJ13841	Ensembl:ENSG00000141579	euGenes: HUgn79755
ECgene: ZNF750	H-InvDB: ZNF750

(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 ZNF750	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZNF750 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ZNF750 gene:
Search GeneIP for patents involving ZNF750

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 ZNF750 gene at Home site.

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ZNF750 Gene

zinc finger protein 750

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ZNF750 Gene

zinc finger protein 750

Aliasesfor ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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for ZNF750 gene

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