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

Gene ID: 157869, updated on 13-Mar-2020

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
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
Expression
Broad expression in urinary bladder (RPKM 8.0), prostate (RPKM 7.0) and 19 other tissues See more
Orthologs

Genomic context

See SBSPON in Genome Data Viewer
Location:
8q21.11
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (73063077..73093178, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (73976778..74005507, 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 RNA, U6 small nuclear 285, pseudogene Neighboring gene telomeric repeat binding factor 1 Neighboring gene uncharacterized LOC107986891 Neighboring gene heat shock protein 90kDa alpha family class B member 1 pseudogene

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

NHGRI GWAS Catalog

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

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
    Related
    ENSP00000297354.6, ENST00000297354.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    73063077..73093178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013145.1XP_016868634.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X1

  2. XM_024447081.1XP_024302849.1  somatomedin-B and thrombospondin type-1 domain-containing protein isoform X2

RNA

  1. XR_928762.2 RNA Sequence

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