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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SBSPON Gene

protein-coding GIFtS: 38
GCID: GC08M073977

somatomedin B and thrombospondin, type 1 domain containing

(Previous name: chromosome 8 open reading frame 84 )
(Previous symbol: C8orf84)

Explore 2 diseases affiliated with
SBSPON 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
Somatomedin B And Thrombospondin, Type 1 Domain Containing¹ ²		Chromosome 8 Open Reading Frame 84¹
C8orf84¹ ² ³		RPE Spondin²
RPESP¹ ² ³		Somatomedin-B And Thrombospondin Type-1 Domain-Containing Protein²
RPE-Spondin¹

External Ids:	HGNC: 30362¹	Entrez Gene: 157869²	Ensembl: ENSG00000164764⁷	UniProtKB: Q8IVN8³

Export aliases for SBSPON gene to outside databases

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

(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_000008.10 NC_018919.1 NT_008183.19

Regulatory elements:

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

SwitchGear Promoter luciferase reporter plasmid: SBSPON promoter sequence

Search SABiosciences Chromatin IP Primers for SBSPON

Epigenetics:

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

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

Entrez Gene cytogenetic band: 8q21.11 Ensembl cytogenetic band: 8q21.11 HGNC cytogenetic band: 8q21.11

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

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M073977: view genomic region (about GC identifiers)

Start:	73,976,775 bp from pter	End:	74,036,323 bp from pter
Size:	59,549 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: SBSPO_HUMAN, Q8IVN8 (See protein sequence)

Recommended Name: Somatomedin-B and thrombospondin type-1 domain-containing protein precursor

Size: 264 amino acids; 29610 Da

Subcellular location: Secreted, extracellular space, extracellular matrix

Sequence caution: Sequence=AAH42877.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAK83466.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAF85659.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: A8KAA5 Q96J64

Explore the universe of human proteins at neXtProt for SBSPON: NX_Q8IVN8

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

REFSEQ proteins: NP_694957.3

ENSEMBL proteins:

ENSP00000297354

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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:0005576	extracellular region	--	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

SBSPON 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

SBSPON for domains About GeneDecksing

2 InterPro domains/families:

IPR000884 Thrombospondin_1_rpt

IPR001212 Somatomedin_B_dom

Graphical View of Domain Structure for InterPro Entry Q8IVN8

ProtoNet protein and cluster: Q8IVN8

UniProtKB/Swiss-Prot: SBSPO_HUMAN, Q8IVN8

Similarity: Belongs to the thrombospondin family

Similarity: Contains 1 SMB (somatomedin-B) domain

Similarity: Contains 1 TSP type-1 domain

(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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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:0005044	scavenger receptor activity	IEA	--
GO:0030247	polysaccharide binding	IEA	--

SBSPON for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for SBSPON:

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

(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 SBSPON

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006955	immune response	IEA	--

SBSPON 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 SBSPON
Search CenterWatch for drugs/clinical trials and news about SBSPON / SBSPO

(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 SBSPON gene:

NM_153225.3

Unigene Cluster for SBSPON:

Somatomedin B and thrombospondin, type 1 domain containing

Hs.439040 [show with all ESTs]

Unigene Representative Sequence: NM_153225

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

ENST00000297354(uc003xzf.3) ENST00000519697

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Additional cDNA sequence:

AF087977.1 AK292970.1 AL080094.1 AY040546.1 BC042877.1

4 DOTS entries:

DT.211522 DT.100778889 DT.100778892 DT.100712381

24/77 AceView cDNA sequences (see all 77):

AA939100 BQ024333 AF087977 CA413403 NM_153225 BC042877 AI217135 BX089861

CR592835 AI565404 BX324902 CR594707 H88831 H88832 BQ182470 BQ448226

AL697631 CR616775 BX344502 AA653203 BX352099 BX344501 AA922441 CB046312

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

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

SBSPON expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Epiphyseal End

Bone

Kidney

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Trophoblast-like cells (Generation of tropho...)

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

SOURCE GeneReport for Unigene cluster: Hs.439040

UniProtKB/Swiss-Prot: SBSPO_HUMAN, Q8IVN8

Tissue specificity: Detected in aorta extracellular matrix (at protein level)

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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 SBSPON gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sbspon⁵ Gm106¹	predicted gene 106^{1, 5}	87.63(n)¹ 89.39(a)¹		1 (4.89 cM)⁵ 226866¹ NM_001033288.3¹ NP_001028460.1¹ 15853862⁵
chicken (Gallus gallus)	Aves	SBSPON¹	somatomedin B and thrombospondin, type 1 domain containing	71.92(n) 67.32(a)		420181 XM_429743.3 XP_429743.3
lizard (Anolis carolinensis)	Reptilia	C8orf84⁶	--	65(a)	1 ↔ 1	4(33393874-33406866)
zebrafish (Danio rerio)	Actinopterygii	LOC100151218¹	RPE-spondin-like	62.18(n) 60.08(a)		100151218 XM_001920112.1 XP_001920147.1
fruit fly (Drosophila melanogaster)	Insecta	CG42339⁶	--	19(a)	1 ↔ 1	X(10861755-10933934)
worm (Caenorhabditis elegans)	Secernentea	R17.3⁶	Protein R17.3	17(a)	1 ↔ 1	III(10834915-10839077)

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

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

Paralogs for SBSPON gene

SBSPON for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SBSPON
PGOHUM00000259647

(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 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs66760382^1,2	C,	--	73976308(+)	`TATGG-/TCTTT TCTTT`	1	--	int¹		2		NA CSA	4
rs201351742^1,2	C	--	73976311(+)	`GGTCTG/TTTCTT`	1	--	int¹		0	--	--	--	--
rs188493697^1,2		--	73976446(+)	`ACCCCA/GTATTA`	1	--	int¹		0	--	--	--	--
rs78865308^1,2	F,	--	73976472(+)	`TTATTC/ATGGTT`	1	--	int¹		1		WA	118
rs74667287^1,2	C,F,	--	73976501(+)	`ATTTGC/GTTTCA`	1	--	int¹		4		NA CSA EA	244
rs58208070^1,2	C,	--	73976509(+)	`TCAATC/AGTAAA`	1	--	int¹		2		WA	120
rs193082698^1,2		--	73976518(+)	`AAAAAA/CATTAT`	1	--	int¹		0	--	--	--	--
rs150262150^1,2		--	73976681(+)	`CTCACA/GGTGCT`	1	--	int¹		0	--	--	--	--
rs138945326^1,2		--	73976712(+)	`CTCAGA/GAGGCC`	1	--	int¹		0	--	--	--	--
rs61328328^1,2	C,	--	73976876(+)	`ACTTTA/TAATTA`	1	--	ut3¹		2		WA	120

HapMap Linkage Disequilibrium report for SBSPON (73976775 - 74036323 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SBSPON: --

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

SBSPON for disorders About GeneDecksing

2 diseases for SBSPON: About MalaCards

choroiditis retinitis

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

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

Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)^{1, 2, 3} Wistow G.... Peterson K. (2002)
Proteomics characterization of extracellular space components in the human aorta. (PubMed id 20551380)^{1, 2} Didangelos A.... Mayr M. (2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)¹ Kenny E.E....Peter I. (2012)
DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)² Nusbaum C....Lander E.S. (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)
Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization. (PubMed id 15218245)⁹ Schulz H.L....Weber B.H.F. (2004)

(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: 157869	HGNC: 30362	AceView: RPESP	Ensembl:ENSG00000164764	euGenes: HUgn157869
ECgene: SBSPON	H-InvDB: SBSPON

(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 SBSPON	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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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	GenScript Custom Purified and Recombinant Proteins Services for SBSPON		GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for SBSPON
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBSPON

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ThermoFisher Antibodies for SBSPON

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SBSPON

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 SBSPON gene at Home site.

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SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

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Export list of displayed genes

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

Aliasesfor SBSPON gene

Summariesfor SBSPON gene

Genomic Viewsfor SBSPON gene

Proteinsfor SBSPON gene

Protein Domains /Familiesfor SBSPON gene

Functionfor SBSPON gene

Pathways & Interactionsfor SBSPON gene

Drugs & Compoundsfor SBSPON gene

Transcriptsfor SBSPON gene

Expression for SBSPON gene

Orthologsfor SBSPON gene

Paralogsfor SBSPON gene

Genomic Variantsfor SBSPON gene

Disorders / Diseasesfor SBSPON gene

Publicationsfor SBSPON gene

External Searches for SBSPON gene

Genome Databases showing SBSPON gene

Other Databases showing SBSPON gene

Specialized Databases showing SBSPON gene

Intellectual Propertyfor SBSPON gene

Productsfor SBSPON gene

View Random Gene

Aliases
for SBSPON gene

Summaries
for SBSPON gene

Genomic Views
for SBSPON gene

Proteins
for SBSPON gene

Protein Domains /
Families
for SBSPON gene

Function
for SBSPON gene

Pathways & Interactions
for SBSPON gene

Drugs & Compounds
for SBSPON gene

Transcripts
for SBSPON gene

Expression
for SBSPON gene

Orthologs
for SBSPON gene

Paralogs
for SBSPON gene

Genomic Variants
for SBSPON gene

Disorders / Diseases
for SBSPON gene

Publications
for SBSPON gene

Intellectual Property
for SBSPON gene

Products
for SBSPON gene