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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZCCHC12 Gene

protein-coding GIFtS: 50
GCID: GC0XP117958

zinc finger, CCHC domain containing 12

Explore 4 diseases affiliated with
ZCCHC12 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, CCHC Domain Containing 12¹ ²		FLJ16123¹
SIZN1¹ ² ³ ⁵		2810028A01Rik²
PNMA7A¹ ²		Paraneoplastic Ma Antigen Family Member 7A²
SIZN¹ ²		Zinc Finger CCHC Domain-Containing Protein 12²
Smad-Interacting Zinc Finger Protein 1² ³

External Ids:	HGNC: 27273¹	Entrez Gene: 170261²	Ensembl: ENSG00000174460⁷	OMIM: 300701⁵	UniProtKB: Q6PEW1³

Export aliases for ZCCHC12 gene to outside databases

Previous GC identifers: GC0XP117739 GC0XP117841 GC0XP107450

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

UniProtKB/Swiss-Prot: ZCH12_HUMAN, Q6PEW1

Function: Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively

modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It

contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity)

(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_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ZCCHC12 gene promoter:
GR GR-beta Nkx2-2 Meis-1b POU2F1 POU2F1a c-Myb GR-alpha Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZCCHC12 promoter sequence

Search SABiosciences Chromatin IP Primers for ZCCHC12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZCCHC12

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

Entrez Gene cytogenetic band: Xq24 Ensembl cytogenetic band: Xq24 HGNC cytogenetic band: Xq24

ZCCHC12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZCCHC12 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP117958: view genomic region (about GC identifiers)

Start:	117,957,753 bp from pter	End:	117,960,931 bp from pter
Size:	3,179 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: ZCH12_HUMAN, Q6PEW1 (See protein sequence)

Recommended Name: Zinc finger CCHC domain-containing protein 12

Size: 402 amino acids; 45369 Da

Subunit: Interacts with SMAD1 and CREB-binding protein (CBP). Forms a protein-DNA complex through its association with

SMAD1 (By similarity)

Secondary accessions: B3KV48 Q6PID5 Q8N1C1

Explore the universe of human proteins at neXtProt for ZCCHC12: NX_Q6PEW1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6PEW1

ZCCHC12 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_776159.1

ENSEMBL proteins:

ENSP00000308921

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

ZCCHC12 for domains About GeneDecksing

1 InterPro domain/family:

IPR001878 Znf_CCHC

Graphical View of Domain Structure for InterPro Entry Q6PEW1

ProtoNet protein and cluster: Q6PEW1

1 Blocks protein family: IPB001878 C2HC-type zinc-finger signature

UniProtKB/Swiss-Prot: ZCH12_HUMAN, Q6PEW1

Similarity: Belongs to the ZCCHC12 family

Similarity: Contains 1 CCHC-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: ZCH12_HUMAN, Q6PEW1

Function: Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively

modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It

contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity)

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In Situ Assay
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Gene Ontology (GO): 2 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	IEA	--
GO:0008270	zinc ion binding	IEA	--

ZCCHC12 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

Regulation of Wnt-mediated beta catenin signaling and target gene transcription

Regulation of Wnt-mediated beta catenin signaling and target gene transcription

1.00

1 BioSystems Pathway for ZCCHC12

Regulation of Wnt-mediated beta catenin signaling and target gene transcription

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZCCHC12

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for ZCCHC12 (Q6PEW1³ ENSP00000308921⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APPBP2	Q92624³, ENSP00000083182⁴	I2D: score=3 STRING: ENSP00000083182
SMAD1	Q15797³, ENSP00000305769⁴	I2D: score=1 STRING: ENSP00000305769
TCF7L2	ENSP00000358404⁴	STRING: ENSP00000358404
CTNNB1	ENSP00000344456⁴	STRING: ENSP00000344456
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

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	--

ZCCHC12 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 ZCCHC12
Search CenterWatch for drugs/clinical trials and news about ZCCHC12 / ZCH12

(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,
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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 ZCCHC12 gene:

NM_173798.2

Unigene Cluster for ZCCHC12:

Zinc finger, CCHC domain containing 12

Hs.21417 [show with all ESTs]

Unigene Representative Sequence: BC036572

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000310164(uc004equ.3)

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		hsa-miR-380* hsa-miR-513b hsa-miR-563 hsa-miR-376c hsa-miR-296-3p hsa-miR-4257
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Additional cDNA sequence:

AK122676.1 BC018066.1 BC031241.1 BC033958.2 BC036572.2 BC057841.1

2 DOTS entries:

DT.101981697 DT.100831193

24/63 AceView cDNA sequences (see all 63):

Z43767 AA350584 CR594993 CD106923 AK122676 NM_173798 AW002115 T08146

BC031241 BX422752 BI599552 AA350585 AW572373 BI546315 BG706249 BX422751

BX441965 BI666934 BI549702 AI955956 BC036572 AI049548 BI600056 BX452503

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

ZCCHC12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATTAATCCA

About this image

ZCCHC12 expression in embryonic tissues and stem cells

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

10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Spinal Cord

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Brain

Gut Tube

Neural Tube

Neural Tube

Presumptive Spinal Cord

Spinal Cord

Spinal Dorsal Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ZCCHC12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZCCHC12

SOURCE GeneReport for Unigene cluster: Hs.21417

SABiosciences Custom PCR Arrays for ZCCHC12

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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

--

ENSEMBL Gene Tree for ZCCHC12 (if available)
TreeFam Gene Tree for ZCCHC12 (if available)

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

Paralogs for ZCCHC12 gene

PNMA6A² PNMA5² PNMA1² PNMA6D² PNMA2² PNMA3² PNMA6C² MOAP1²

PNMAL2² PNMAL1² PNMA6B²

2 SIMAP similar genes for ZCCHC12 using alignment to 1 protein entry: ZCH12_HUMAN:

ZCCHC18 PNMA1

ZCCHC12 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for ZCCHC12
PGOHUM00000241934

(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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189840675^1,2		--	117955879(+)	`CCTCAG/TTACCT`	1	--	us2k¹		0	--	--	--	--
rs142449914^1,2		--	117956029(+)	`ATATGA/CACAGA`	1	--	us2k¹		0	--	--	--	--
rs183172982^1,2		--	117956147(+)	`ATGAGC/TAATAC`	1	--	us2k¹		0	--	--	--	--
rs111960514^1,2	C,	--	117956533(+)	`CACCTA/GCAAAG`	1	--	us2k¹		0	--	--	--	--
rs186449440^1,2		--	117956696(+)	`GTTGCA/GTTTCA`	1	--	us2k¹		0	--	--	--	--
rs147823676^1,2		--	117956738(+)	`AGGCTC/TATTTA`	1	--	us2k¹		0	--	--	--	--
rs11797141^1,2	C,H	--	117956876(+)	`ACATTT/GCTTTT`	1	--	us2k¹ tfbs³ trp³		2		NA	6
rs190470837^1,2		--	117956964(+)	`TGCAGC/TGGTGC`	1	--	us2k¹		0	--	--	--	--
rs12853136^1,2	A,H	--	117957016(+)	`attctC/Ttagcc`	1	--	us2k¹		4		NS EA	418
rs183478599^1,2		--	117957121(+)	`AACATA/GTTGGC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ZCCHC12 (117957753 - 117960931 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ZCCHC12
4 Indels: 83701 83702 96916 96917
Human Gene Mutation Database (HGMD): ZCCHC12

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

ZCCHC12 for disorders           About GeneDecksing

OMIM gene information: 300701    OMIM disorders: --

4 diseases for ZCCHC12:    About MalaCards

intellectual disability leukemia neuronitis carcinoma

1 disease from the University of Copenhagen DISEASES database for ZCCHC12:

Intellectual disability

Export disorders for ZCCHC12 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 ZCCHC12 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with ZCCHC12)

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

ZCCHC12, a potential molecular marker of papillary th yroid carcinoma: a preliminary study. (PubMed id 21739307)^{1, 3} Li Q.L....Yang A.K. (2011)
Human ZCCHC12 activates AP-1 and CREB signaling as a transcriptional co-activator. (PubMed id 19578717)^{1, 3} Li H....Zhang J. (2009)
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)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
SUMO interaction motifs in Sizn1 are required for pro myelocytic leukemia protein nuclear body localization and for transcriptional a ctivation. (PubMed id 19416967)¹ Cho G....Golden J.A. (2009)
Sizn1 is a novel protein that functions as a transcriptional coactivator of bone morphogenic protein signaling. (PubMed id 18160706)¹ Cho G....Golden J.A. (2008)

(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: 170261	HGNC: 27273	AceView: ZCCHC12	Ensembl:ENSG00000174460	euGenes: HUgn170261
ECgene: ZCCHC12	H-InvDB: ZCCHC12

(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 ZCCHC12	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZCCHC12 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ZCCHC12 gene:
Search GeneIP for patents involving ZCCHC12

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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	Browse OriGene Antibodies		OriGene shRNA RFP for ZCCHC12
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ZCCHC12
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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 ZCCHC12 gene at Home site.

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ZCCHC12 Gene

zinc finger, CCHC domain containing 12

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ZCCHC12 Gene

zinc finger, CCHC domain containing 12

Aliasesfor ZCCHC12 gene

Summariesfor ZCCHC12 gene

Genomic Viewsfor ZCCHC12 gene

Proteinsfor ZCCHC12 gene

Protein Domains /Familiesfor ZCCHC12 gene

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