U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SBE2 SHH brain enhancer 2 [ Homo sapiens (human) ]

Gene ID: 106049960, updated on 13-Mar-2024

Summary

Go to the top of the page Help
Gene symbol
SBE2
Gene description
SHH brain enhancer 2
Gene type
biological region
Feature type(s)
protein_bind
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region contains a brain enhancer that likely regulates expression of the sonic hedgehog (SHH) gene, located approximately 460 kb downstream. A mutation in this sequence disrupts binding by homeobox protein SIX3 and causes holoprosencephaly (HPE). [provided by RefSeq, Sep 2015]
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (156268357..156269154)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (157455731..157456528)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156061051..156061848)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901790 Neighboring gene uncharacterized LOC124901791 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:156194364-156194864 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:156194865-156195365 Neighboring gene uncharacterized LOC105375599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156232950-156233824 Neighboring gene uncharacterized LOC285889

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Gregory LC, et al. Clin Endocrinol (Oxf), 2015 May. PMID 25327282
  2. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Roessler E, et al. Hum Genet, 1997 Aug. PMID 9254845
  3. A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Jeong Y, et al. Development, 2006 Feb. PMID 16407397
  4. Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Jeong Y, et al. Nat Genet, 2008 Nov. PMID 18836447, Free PMC Article
  5. Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia. Zhao L, et al. Dev Cell, 2012 Mar 13. PMID 22421044, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Homology

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

  1. NG_042251.1 

    Range
    101..898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    156268357..156269154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    157455731..157456528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases