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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZNF630 Gene

protein-coding GIFtS: 44
GCID: GC0XM047842

Zinc Finger Protein 630

See related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Zinc Finger Protein 630¹ ²
dJ54B20.2²
DJ54B20.2 (Novel KRAB Box Containing C2H2 Type Zinc Finger Protein)²

External Ids:	HGNC: 28855¹	Entrez Gene: 57232²	Ensembl: ENSG00000221994⁷	OMIM: 300819⁵	UniProtKB: Q2M218³

Export aliases for ZNF630 gene to outside databases

Previous GC identifers: GC0XM046964 GC0XM047673 GC0XM047802 GC0XM045632

(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 ZNF630 Gene:

This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13

Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in

nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants. (provided

by RefSeq, Aug 2013)

GeneCards Summary for ZNF630 Gene:

ZNF630 (zinc finger protein 630) is a protein-coding gene. Diseases associated with ZNF630 include mental retardation. GO annotations related to this gene include DNA binding and zinc ion binding. An important paralog of this gene is ZNF420.

UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.2 NT_079573.4

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for ZNF630
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNF630 promoter sequence

Search SABiosciences Chromatin IP Primers for ZNF630

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF630

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

Entrez Gene cytogenetic band: Xp11.3-p11.1 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.3-p11.1

ZNF630 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF630 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM047842: view genomic region (about GC identifiers)

Start:	47,842,756 bp from pter	End:	47,931,025 bp from pter
Size:	88,270 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218 (See protein sequence)

Recommended Name: Zinc finger protein 630

Size: 657 amino acids; 76094 Da

Subcellular location: Nucleus (Probable)

Secondary accessions: F8WAG4 Q5H8Z5

Alternative splicing: 2 isoforms: Q2M218-1 Q2M218-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZNF630: NX_Q2M218

Explore proteomics data for ZNF630 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q2M218

ZNF630 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

NP_001032824.2 NP_001177184.1 NP_001269130.1 NP_001269131.1

ENSEMBL proteins:

ENSP00000400030 ENSP00000386393 ENSP00000354683 ENSP00000407278 ENSP00000408054

ENSP00000393163

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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	--

ZNF630 for ontologies About GeneDecksing

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

HGNC Gene Families:

ZNF: Zinc fingers, C2H2-type

4 InterPro protein domains:

IPR015880 Znf_C2H2-like

IPR001909 Krueppel-associated_box

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry Q2M218

ProtoNet protein and cluster: Q2M218

1 Blocks protein domain: IPB001909 KRAB box

UniProtKB/Swiss-Prot: ZN630_HUMAN, Q2M218

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

Similarity: Contains 14 C2H2-type zinc fingers

Similarity: Contains 1 KRAB domain

ZNF630 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ZN630_HUMAN, Q2M218

Function: May be involved in transcriptional regulation

Gene Ontology (GO): 4 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	--	--
GO:0046872	metal ion binding	IEA	--

ZNF630 for ontologies About GeneDecksing

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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZNF630

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	--

ZNF630 for ontologies About GeneDecksing

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

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for ZNF630 gene (4 alternative transcripts):

NM_001037735.3 NM_001190255.2 NM_001282201.1 NM_001282202.1

Unigene Cluster for ZNF630:

Zinc finger protein 630

Hs.650883 [show with all ESTs]

Unigene Representative Sequence: NR_033730

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

ENST00000428463(uc010nhz.1) ENST00000409324(uc004div.4) ENST00000276054(uc022bvs.1)

ENST00000428686 ENST00000421903 ENST00000442455(uc022bvr.1)

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Additional mRNA sequence:

AK000580.1 AK307979.1 BC037316.1 BC112139.1 NR_033730.1

3 DOTS entries:

DT.95291766 DT.121299545 DT.100781947

7 AceView cDNA sequences:

BG436394 BX419623 BX116378 BC037316 AK000580 R67493 BI545533

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

ZNF630 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ATTACCCTTC

About this image

See ZNF630 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF630

SOURCE GeneReport for Unigene cluster: Hs.650883

SABiosciences Custom PCR Arrays for ZNF630

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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 mammals.

Orthologs for ZNF630 gene from 1/2 species (see all 2) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
dog (Canis familiaris)	Mammalia	ZNF630¹	zinc finger protein 630	86.6(n) 78.9(a)		491865 XM_548984.3 XP_548984.3

ENSEMBL Gene Tree for ZNF630 (if available)
TreeFam Gene Tree for ZNF630 (if available)

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

Paralogs for ZNF630 gene

ZNF420² ZNF780A² ZNF665² ZNF724P² ZNF7² ZNF23² ZNF432² ZNF33A²

ZNF234² ZNF30² ZNF573² ZNF429² ZNF540² ZNF251² ZNF605² ZNF84²

ZNF189² ZNF571² ZNF93² ZNF16² ZNF283² ZNF347² ZNF484² ZNF135²

ZNF184² ZNF585B² ZNF41² ZNF615² ZNF569² ZNF470²

18/518 SIMAP similar genes for ZNF630 using alignment to 5 protein entries: ZN630_HUMAN (see all proteins) (see all similar genes):

POM121C kr-znf3 ZFP90 ZNF818P ZNF78L1 ZNF81

MGC12518 ZNF300P1 ZNF3 ZNF300 ZNF283 HZF36

ZFP41 ZNF350 zf30 ZNF250 FIK ZNF707

ZNF630 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for ZNF630
PGOHUM00000235424

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112530541^1,2	C,F	--	47836599(+)	`GAGTCG/CATATT`	3	--	int¹		1		WA	2
rs503255^1,2	C,A,H	--	47836703(-)	`CACTTC/TGGCTT`	3	--	int¹		5		NA WA CSA	8
rs186561753^1,2	C	--	47836837(+)	`GAGGGC/TGAGGC`	3	--	int¹		0	--	--	--	--
rs140146445^1,2		--	47837010(+)	`ACAAAC/GAGATA`	3	--	int¹		0	--	--	--	--
rs189502824^1,2		--	47837038(+)	`CATGCA/CCAAAT`	3	--	int¹		0	--	--	--	--
rs182208179^1,2	C	--	47837094(+)	`CCAAAA/GTAGTG`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs186856568^1,2		--	47837102(+)	`GTGCTA/GATTCT`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs200533237^1,2		--	47837177(+)	`TTGTG-/ATGGGTT`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs5905648^1,2	C,F,A,H	--	47837178(+)	`TTGTGA/GGGTTG`	3	--	ut3¹ nc-transcript-variant		17		NS EA WA NA CSA	1975
rs5905649^1,2	C,F,A,H	--	47837179(+)	`TGTGGT/GGTTGA`	3	--	ut3¹ nc-transcript-variant		17		NS EA WA NA CSA	1977

HapMap Linkage Disequilibrium report for ZNF630 (47842756 - 47931025 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/25 variations for ZNF630 (see all 25): About this table

Variant ID	Type	Subtype	PubMed ID
nsv438131	CNV	Loss	16468122
nsv470351	CNV	Loss	18288195
nsv519165	CNV	Loss	19592680
nsv6890	CNV	Loss	18451855
dgv268e55	CNV	Loss	17911159
nsv521227	CNV	Gain	19592680
nsv522886	CNV	Gain	19592680
dgv37n14	CNV	Gain	18776910
nsv9940	CNV	Gain	18304495
nsv471601	CNV	Gain	15918152

Locus Specific Mutation Databases (LSDB): ZNF630

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

OMIM gene information: 300819 OMIM disorders: --

2 diseases for ZNF630: About MalaCards

mental retardation

ZNF630 for disorders About GeneDecksing

Genetic Association Database (GAD): ZNF630
Human Genome Epidemiology (HuGE) Navigator: ZNF630 (1 document)

Export disorders for ZNF630 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 ZNF630 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ZNF630)

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

Recurrent deletion of ZNF630 at Xp11.23 is not associ ated with mental retardation. (PubMed id 20186789)^{1, 4} Lugtenberg D....de Brouwer A.P. (2010)
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)
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 DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
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: 57232	HGNC: 28855	AceView: ZNF630	Ensembl:ENSG00000221994	euGenes: HUgn57232
ECgene: ZNF630	H-InvDB: ZNF630

(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 ZNF630	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZNF630 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ZNF630 gene:
Search GeneIP for patents involving ZNF630

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

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section


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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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ZNF630 Gene

Zinc Finger Protein 630

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ZNF630 Gene

Zinc Finger Protein 630

Aliasesfor ZNF630 gene

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Protein Domains /Familiesfor ZNF630 gene

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for ZNF630 gene

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for ZNF630 gene

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