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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPIC Gene

protein-coding GIFtS: 46
GCID: GC12P101870

Spi-C Transcription Factor (Spi-1/PU.1 Related)

3 related diseases
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
Spi-C Transcription Factor (Spi-1/PU.1 Related)¹ ²
SPI-C²
Transcription Factor Spi-C²

External Ids:	HGNC: 29549¹	Entrez Gene: 121599²	Ensembl: ENSG00000166211⁷	OMIM: 612568⁵	UniProtKB: Q8N5J4³

Export aliases for SPIC gene to outside databases

Previous GC identifers: GC12P101853 GC12P100371 GC12P100393 GC12P098930

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

GeneCards Summary for SPIC Gene:

SPIC (Spi-C transcription factor (Spi-1/PU.1 related)) is a protein-coding gene. Diseases associated with SPIC include wolman disease, and lipomatosis. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SPIB.

UniProtKB/Swiss-Prot: SPIC_HUMAN, Q8N5J4

Function: Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis.

Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a

lymphoid-specific enhancer. Regulates VCAM1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NT_029419.12 NC_018923.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPIC gene promoter:
STAT5B Elk-1 MEF-2 CREB MEF-2A POU2F1 deltaCREB POU2F1a aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPIC promoter sequence

Search SABiosciences Chromatin IP Primers for SPIC

Epigenetics:

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

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

Entrez Gene cytogenetic band: 12q23.2 Ensembl cytogenetic band: 12q23.2 HGNC cytogenetic band: 12q23

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

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P101870: view genomic region (about GC identifiers)

Start:	101,869,199 bp from pter	End:	101,880,775 bp from pter
Size:	11,577 bases	Orientation:	plus 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: SPIC_HUMAN, Q8N5J4 (See protein sequence)

Recommended Name: Transcription factor Spi-C

Size: 248 amino acids; 29180 Da

Subunit: Binds DNA as a monomer

Subcellular location: Nucleus (Probable)

Explore the universe of human proteins at neXtProt for SPIC: NX_Q8N5J4

Explore proteomics data for SPIC at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8N5J4

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

REFSEQ proteins: NP_689536.1

ENSEMBL proteins:

ENSP00000448580 ENSP00000299272

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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	IEA	--

SPIC 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

2 InterPro protein domains:

IPR011991 WHTH_DNA-bd_dom

IPR000418 Ets_dom

Graphical View of Domain Structure for InterPro Entry Q8N5J4

ProtoNet protein and cluster: Q8N5J4

UniProtKB/Swiss-Prot: SPIC_HUMAN, Q8N5J4

Similarity: Belongs to the ETS family

Similarity: Contains 1 ETS DNA-binding domain

SPIC 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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: SPIC_HUMAN, Q8N5J4

Function: Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis.

Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a

lymphoid-specific enhancer. Regulates VCAM1 gene expression (By similarity)

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:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

SPIC for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SPIC:

Increased S DNA content, incre

4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Spic):

hematopoietic system

homeostasis/metabolism

immune system

mortality/aging

SPIC for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Spic^tm1.1Kmm for SPIC

inGenious Targeting Laboratory - Custom generated mouse model solutions for SPIC

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPIC

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPIC

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

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

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001824	blastocyst development	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	--

SPIC 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, IUPHAR, 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 SPIC

Search CenterWatch for drugs/clinical trials and news about SPIC

(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 SPIC gene:

NM_152323.1

Unigene Cluster for SPIC:

Spi-C transcription factor (Spi-1/PU.1 related)

Hs.577097 [show with all ESTs]

Unigene Representative Sequence: AF518404

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

ENST00000551346(uc001tid.3 uc010svp.2 uc009zua.3 uc021rcq.1)

ENST00000299272

miRNA Products:
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPIC

Additional mRNA sequence:

AF518404.1 BC032317.1

1 DOTS entry:

DT.100015091

7 AceView cDNA sequences:

BC032317 NM_152323 AF518404 BI838200 BI770622 BG567207 R10669

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

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

About this image

SPIC expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/5 selected tissues (see all 5) fully expand


Heart (Cardiovascular System)
Mature Cardiac Fibroblasts Myocardium

Liver (Hepatobiliary System)
Liver Lobule

Inner Cell Mass (Early Embryo)
Blimp1- mVenus and stella-ECFP genetically modified stem cells

Spinal Cord (Nervous System)

Neural Tube (Nervous System)

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

SOURCE GeneReport for Unigene cluster: Hs.577097

UniProtKB/Swiss-Prot: SPIC_HUMAN, Q8N5J4

Tissue specificity: Preferentially detected in fetal and adult spleen, lymph nodes and at lower levels in bone marrow

and fetal liver

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPIC

(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 SPIC gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spic^{1 , 5}	Spi-C transcription factor (Spi-1/PU.1 related)^{1, 5}	77.78(n)¹ 68.35(a)¹		10 (44.14 cM)⁵ 20728¹ NM_011461.3¹ NP_035591.3¹ 88674772⁵
chicken (Gallus gallus)	Aves	SPIC¹	Spi-C transcription factor (Spi-1/PU.1 related)	69.86(n) 65.83(a)		427915 XM_425488.2 XP_425488.2
lizard (Anolis carolinensis)	Reptilia	SPIC⁶	Spi-C transcription factor (Spi-1/PU.1 related)	58(a)	1 ↔ 1	5(17189308-17198320)
zebrafish (Danio rerio)	Actinopterygii	spic¹	Spi-C transcription factor (Spi-1/PU.1 related)	52.43(n) 50(a)		447882 NM_001004621.1 NP_001004621.1

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

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

Paralogs for SPIC gene

SPIB² SPI1²

3 SIMAP similar genes for SPIC using alignment to 1 protein entry: SPIC_HUMAN:

SPI1 ELF5 SPIB

SPIC for paralogs About GeneDecksing

5 Pseudogenes.org Pseudogenes for SPIC
PGOHUM00000242206 PGOHUM00000236914 PGOHUM00000237363 PGOHUM00000245808 PGOHUM00000235494

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79321567^1,2	C,F	--	101868727(+)	`AGACCG/AATTTG`	1	--	us2k¹		2		WA EA	238
rs182342217^1,2		--	101868795(+)	`GAATTC/GGGAGA`	1	--	us2k¹		0	--	--	--	--
rs7309447^1,2	C,F,A,H	--	101868843(+)	`GTTGCA/CTGGGT`	1	--	us2k¹		19		NA NS EA WA CSA	906
rs35264029^1,2	C,F	--	101868895(+)	`CCTAAG/ATTGGG`	1	--	us2k¹		9		NA WA CSA	252
rs114922626^1,2	C,F	--	101868899(+)	`AGTTGG/AGCGGG`	1	--	us2k¹		1		WA	118
rs186695246^1,2		--	101869075(+)	`TCCTTA/CAAAAC`	1	--	us2k¹		0	--	--	--	--
rs7310163^1,2	C,F,H	--	101869220(+)	`CTACCG/ATTGAA`	1	--	us2k¹ ese³		4		NS EA	420
rs115725226^1,2	F	--	101869279(+)	`CTTCCC/TGGTAA`	1	--	us2k¹		1		WA	118
rs139275704^1,2	C	--	101869324(+)	`TCACTA/GTTCAT`	1	--	us2k¹		0	--	--	--	--
rs189930279^1,2		--	101869452(+)	`CTTGTA/CATAGC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPIC (101869199 - 101880775 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for SPIC: About this table

Variant ID	Type	Subtype	PubMed ID
nsv507669	CNV	Insertion	20534489

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPIC

DNA2.0 Custom Variant and Variant Library Synthesis for SPIC

(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

SPIC for disorders           About GeneDecksing

OMIM gene information: 612568    OMIM disorders: --

3 diseases for SPIC:    About MalaCards

wolman disease lipomatosis dilated cardiomyopathy

3 diseases from the University of Copenhagen DISEASES database for SPIC:

Wolman disease Dilated cardiomyopathy Lipomatosis

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

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

Genomic structure of mouse SPI-C and genomic structure and expression pattern of human SPI-C. (PubMed id 12459275)^{1, 2, 3} Carlsson R.... Leanderson T. (2002)
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)
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)
SPI-C and STAT6 can cooperate to stimulate IgE germline transcription. (PubMed id 16647686)¹ Carlsson R....Leanderson T. (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: 121599	HGNC: 29549	AceView: SPIC	Ensembl:ENSG00000166211	euGenes: HUgn121599
ECgene: SPIC	H-InvDB: SPIC

(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 SPIC	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section


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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPIC
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	GenScript Custom Purified and Recombinant Proteins Services for SPIC		GenScript cDNA clones with any tag delivered in your preferred vector for SPIC
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Search for Antibodies & Assays

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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPIC

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ThermoFisher Antibodies for SPIC

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LSBio Antibodies in human, mouse, rat for SPIC

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

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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 SPIC gene at Home site.

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SPIC Gene

Spi-C Transcription Factor (Spi-1/PU.1 Related)

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SPIC Gene

Spi-C Transcription Factor (Spi-1/PU.1 Related)

Aliasesfor SPIC gene

Summariesfor SPIC gene

Genomic Viewsfor SPIC gene

Proteinsfor SPIC gene

Protein Domains /Familiesfor SPIC gene

Functionfor SPIC gene

Pathways & Interactionsfor SPIC gene

Drugs & Compoundsfor SPIC gene

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Expression for SPIC gene

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for SPIC gene

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for SPIC gene

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for SPIC gene

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for SPIC gene

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for SPIC gene

Drugs & Compounds
for SPIC gene

Transcripts
for SPIC gene

Expression
for SPIC gene

Orthologs
for SPIC gene

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for SPIC gene

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for SPIC gene

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for SPIC gene

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for SPIC gene

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