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

Gene ID: 157869, updated on 5-Aug-2022

Summary

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

See SBSPON in Genome Data Viewer
Location:
8q21.11
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (73064543..73093172, complement)
110 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 RNA, U6 small nuclear 285, pseudogene Neighboring gene telomeric repeat binding factor 1 Neighboring gene uncharacterized LOC107986891 Neighboring gene Sharpr-MPRA regulatory region 10056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74096970-74097470

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40021

General protein information

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_153225.4NP_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
    Q8IVN8, Q96J64
    Related
    ENSP00000297354.6, ENST00000297354.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047421408.1XP_047277364.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X1

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

  3. XM_024447081.2XP_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)