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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RNF112 Gene

protein-coding GIFtS: 46
GCID: GC17P019314

ring finger protein 112

(Previous name: zinc finger protein 179 )
(Previous symbol: ZNF179)

Explore 11 diseases affiliated with
RNF112 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
Ring Finger Protein 112¹ ²
BFP¹ ² ³ ⁵
ZNF179¹ ² ³ ⁵
Zinc Finger Protein 179¹ ² ³
Brain Finger Protein² ³

External Ids:	HGNC: 12968¹	Entrez Gene: 7732²	Ensembl: ENSG00000128482⁷	OMIM: 601237⁵	UniProtKB: Q9ULX5³

Export aliases for RNF112 gene to outside databases

Previous GC identifers: GC17P019257 GC17P018694

(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 RNF112:

This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily

expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. (provided by

RefSeq, Jul 2008)

(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_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RNF112 gene promoter:
AhR HOXA9B HOXA9 SRF Bach2 SRF (504 AA) Tal-1beta Meis-1b ITF-2 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RNF112 promoter sequence

Search SABiosciences Chromatin IP Primers for RNF112

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNF112

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

Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2

RNF112 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF112 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P019314: view genomic region (about GC identifiers)

Start:	19,314,438 bp from pter	End:	19,320,589 bp from pter
Size:	6,152 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: RN112_HUMAN, Q9ULX5 (See protein sequence)

Recommended Name: RING finger protein 112

Size: 631 amino acids; 68298 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Secondary accessions: O60633 Q7Z5V9

Alternative splicing: 2 isoforms: Q9ULX5-1 Q9ULX5-2

Explore the universe of human proteins at neXtProt for RNF112: NX_Q9ULX5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9ULX5

RNF112 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_009079.2

ENSEMBL proteins:

ENSP00000464134 ENSP00000454919 ENSP00000457295

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0016021	integral to membrane	IEA	--

RNF112 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

RNF112 for domains About GeneDecksing

4 InterPro domains/families:

IPR001841 Znf_RING

IPR015894 Guanylate-bd_N

IPR018957 Znf_C3HC4_RING-type

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry Q9ULX5

ProtoNet protein and cluster: Q9ULX5

1 Blocks protein family: IPB001841 Zn-finger

UniProtKB/Swiss-Prot: RN112_HUMAN, Q9ULX5

Similarity: Contains 1 RING-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

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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:0003924	GTPase activity	IEA	--
GO:0005525	GTP binding	IEA	--
GO:0008270	zinc ion binding	NAS	8660987

RNF112 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for RNF112:

Downregulation of NF-kappaB pa

(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 RNF112

(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 RNF112
Search CenterWatch for drugs/clinical trials and news about RNF112 / RN112

(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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About This Section

REFSEQ mRNAs for RNF112 gene:

NM_007148.4

Unigene Cluster for RNF112:

Ring finger protein 112

Hs.189482 [show with all ESTs]

Unigene Representative Sequence: NM_007148

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

ENST00000575165 ENST00000574149(uc010vyu.2) ENST00000461366(uc010vyw.2 uc021tsa.1)

ENST00000580109 ENST00000574782 ENST00000453070(uc010vyx.1)

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Additional cDNA sequence:

AB026054.1 AK226052.1 AK293508.1 AK313844.1 BC038896.1 BC053989.1

2 DOTS entries:

DT.40198862 DT.75116798

24/53 AceView cDNA sequences (see all 53):

AW005893 BM931830 BM669827 NM_007148 AB026054 BM716143 AW136856 BM930108

AI589846 AI810765 BU631924 BC038896 BX116914 BF514637 BE466003 AI631700

BC053989 AL157643 BI772359 CO247988 BF527927 BE297851 AA776578 BG911552

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

RNF112 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTCTGTGA

About this image

RNF112 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)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

Genevestigator expression for RNF112

SOURCE GeneReport for Unigene cluster: Hs.189482

UniProtKB/Swiss-Prot: RN112_HUMAN, Q9ULX5

Tissue specificity: Predominantly expressed in brain

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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 animals.

Orthologs for RNF112 gene from 2/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	RNF112⁶	--	35(a)	1 ↔ 1	GL343287.1(1724258-1737027)
worm (Caenorhabditis elegans)	Secernentea	Y41E3.3⁶	--	19(a)	1 ↔ 1	IV(14981577-14996284)

ENSEMBL Gene Tree for RNF112 (if available)
TreeFam Gene Tree for RNF112 (if available)

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

Paralogs for RNF112 gene

ATL3² ATL2² ATL1²

7 SIMAP similar genes for RNF112 using alignment to 3 protein entries: RN112_HUMAN (see all proteins):

TRIM39 ATL1 TRIM17 TRIM26 BFAR TRIM5

TRIM60

RNF112 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
				--	--	--		--	--
rs148745329^1,2		--	19312621(+)	`CCTTTG/TTTCCC`	1	--	us2k¹		0	--	--	--	--
rs189564568^1,2		--	19312705(+)	`ACCTCC/TTTGCT`	1	--	us2k¹		0	--	--	--	--
rs142595886^1,2		--	19312727(+)	`CCTGAC/TACCCC`	1	--	us2k¹		0	--	--	--	--
rs146491024^1,2		--	19312744(+)	`CCCTCA/CCCGCA`	1	--	us2k¹		0	--	--	--	--
rs180803833^1,2		--	19312789(+)	`TAATTG/TTCCAG`	1	--	us2k¹		0	--	--	--	--
rs115157693^1,2	C,	--	19312950(+)	`GGAAGC/TTCAGA`	1	--	us2k¹		0	--	--	--	--
rs186484512^1,2		--	19313217(+)	`TTCTCC/TGAATC`	1	--	us2k¹		0	--	--	--	--
rs79047589^1,2	F,	--	19313266(+)	`CCAAAA/GTGAAC`	1	--	us2k¹		1		EA	120
rs189357821^1,2		--	19313328(+)	`GCTGAA/TCTTTT`	1	--	us2k¹		0	--	--	--	--
rs73307916^1,2	C,	--	19313336(+)	`TTTCTC/AGGTTC`	1	--	us2k¹		1		WA	2

HapMap Linkage Disequilibrium report for RNF112 (19314438 - 19320589 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RNF112: --

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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

RNF112 for disorders           About GeneDecksing

OMIM gene information: 601237    OMIM disorders: --

11 diseases for RNF112:    About MalaCards

smith-magenis syndrome accommodative esotropia suppression amblyopia facial paralysis

esotropia amblyopia sneddon syndrome paralysis

fanconi's anemia diarrhea anemia

2 diseases from the University of Copenhagen DISEASES database for RNF112:

Syphilis Diarrhea

Export disorders for RNF112 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 RNF112 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RNF112)

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

Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. (PubMed id 8660987)^{1, 2, 3, 9} Matsuda Y....Hori T. (1996)
Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome. (PubMed id 9806830)^{1, 3, 9} Orimo A....Muramatsu M. (1998)
cDNA cloning of a human brain finger protein, BFP/ZNF179, a member of the RING finger protein family. (PubMed id 10574464)^{1, 2} Seki N.... Saito T. (1999)
TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)¹ Vanderwerf S.M....Bagby G.C. (2009)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (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)
The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. (PubMed id 9096764)¹ Kimura T....Inazawa J. (1997)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 7732	HGNC: 12968	AceView: ZNF179	Ensembl:ENSG00000128482	euGenes: HUgn7732
ECgene: RNF112	H-InvDB: RNF112

(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 RNF112	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RNF112 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RNF112 gene:
Search GeneIP for patents involving RNF112

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),
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About This Section


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GeneCards Homepage - Last full update: 18 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 RNF112 gene at Home site.

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RNF112 Gene

ring finger protein 112

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RNF112 Gene

ring finger protein 112

Aliasesfor RNF112 gene

Summariesfor RNF112 gene

Genomic Viewsfor RNF112 gene

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Protein Domains /Familiesfor RNF112 gene

Functionfor RNF112 gene

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for RNF112 gene

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for RNF112 gene

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for RNF112 gene

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for RNF112 gene

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for RNF112 gene

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for RNF112 gene

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for RNF112 gene

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for RNF112 gene

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