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SBSPON somatomedin B and thrombospondin type 1 domain containing [ Homo sapiens (human) ]

Gene ID: 157869, updated on 5-Mar-2024

Summary

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Official Symbol
SBSPONprovided by HGNC
Official Full Name
somatomedin B and thrombospondin type 1 domain containingprovided by HGNC
Primary source
HGNC:HGNC:30362
See related
Ensembl:ENSG00000164764 AllianceGenome:HGNC:30362
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RPESP; C8orf84
Summary
Predicted to be an extracellular matrix structural constituent. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in urinary bladder (RPKM 8.0), prostate (RPKM 7.0) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
8q21.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (73064543..73093172, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (73493598..73522530, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (73976778..74005407, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily B member 2 Neighboring gene uncharacterized LOC101926908 Neighboring gene uncharacterized LOC124901963 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73792913-73793504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73793505-73794095 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:73794231-73795430 Neighboring gene NANOG hESC enhancer GRCh37_chr8:73837632-73838133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:73909312-73909923 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73912784-73913328 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73913329-73913871 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73913872-73914415 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73914416-73914958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:73916046-73916588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:73916589-73917131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19286 Neighboring gene RNA, U6 small nuclear 285, pseudogene Neighboring gene telomeric repeat binding factor 1 Neighboring gene uncharacterized LOC107986891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74085815-74086316 Neighboring gene Sharpr-MPRA regulatory region 10056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74096970-74097470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74097471-74097971 Neighboring gene heat shock protein 90 alpha family class B member 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Mishra A, et al. Invest Ophthalmol Vis Sci, 2012 Oct 11. PMID 22969067, Free PMC Article
  2. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388, Free PMC Article
  3. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
  4. Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. Naba A, et al. BMC Cancer, 2014 Jul 18. PMID 25037231, Free PMC Article
  5. Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Barallobre-Barreiro J, et al. Circulation, 2016 Sep 13. PMID 27559042, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40021

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
somatomedin-B and thrombospondin type-1 domain-containing protein
Names
RPE-spondin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_153225.4 → NP_694957.3  somatomedin-B and thrombospondin type-1 domain-containing protein precursor

    See identical proteins and their annotated locations for NP_694957.3

    Status: VALIDATED

    Source sequence(s)
    AC022893, AI698180, BC042877
    Consensus CDS
    CCDS43747.2
    UniProtKB/Swiss-Prot
    A8KAA5, Q8IVN8, Q96J64
    Related
    ENSP00000297354.6, ENST00000297354.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    73064543..73093172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421408.1 → XP_047277364.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X1

  2. XM_017013145.2 → XP_016868634.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X2

  3. XM_024447081.2 → XP_024302849.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X3

RNA

  1. XR_928762.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    73493598..73522530 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359862.1 → XP_054215837.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X1

  2. XM_054359863.1 → XP_054215838.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X2

  3. XM_054359864.1 → XP_054215839.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X3

RNA

  1. XR_008487816.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IVN8.2 GenPept UniProtKB/Swiss-Prot:Q8IVN8

Gene LinkOut

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