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STOX2 storkhead box 2 [ Homo sapiens (human) ]

Gene ID: 56977, updated on 21-Dec-2019

Summary

Official Symbol
STOX2provided by HGNC
Official Full Name
storkhead box 2provided by HGNC
Primary source
HGNC:HGNC:25450
See related
Ensembl:ENSG00000173320 MIM:617359
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression
Broad expression in brain (RPKM 5.4), thyroid (RPKM 2.4) and 22 other tissues See more
Orthologs

Genomic context

See STOX2 in Genome Data Viewer
Location:
4q35.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (183796331..184023530)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (184826509..184944679)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex 11 Neighboring gene RNA, U6 small nuclear 1053, pseudogene Neighboring gene uncharacterized LOC105377581 Neighboring gene uncharacterized LOC107986330 Neighboring gene very low density lipoprotein receptor 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp762K222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
embryo development ending in birth or egg hatching IEP
Inferred from Expression Pattern
more info
PubMed 
maternal placenta development IEP
Inferred from Expression Pattern
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

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_020225.3NP_064610.1  storkhead-box protein 2

    See identical proteins and their annotated locations for NP_064610.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AB037813, AC074194, R42234
    Consensus CDS
    CCDS47167.1
    UniProtKB/Swiss-Prot
    Q9P2F5
    Related
    ENSP00000311257.4, ENST00000308497.9
    Conserved Domains (1) summary
    pfam10264
    Location:64140
    Stork_head; Winged helix Storkhead-box1 domain

RNA

  1. NR_132761.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' most exon and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC074194, AW205334, R42234

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    183796331..184023530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532130.1XP_011530432.1  storkhead-box protein 2 isoform X2

    Conserved Domains (1) summary
    pfam10264
    Location:130206
    Stork_head; Winged helix Storkhead-box1 domain
  2. XM_011532129.1XP_011530431.1  storkhead-box protein 2 isoform X1

    Conserved Domains (1) summary
    pfam10264
    Location:130206
    Stork_head; Winged helix Storkhead-box1 domain
  3. XM_017008466.1XP_016863955.1  storkhead-box protein 2 isoform X3

  4. XM_024454156.1XP_024309924.1  storkhead-box protein 2 isoform X6

    Conserved Domains (1) summary
    pfam10264
    Location:278
    Stork_head; Winged helix Storkhead-box1 domain
  5. XM_024454157.1XP_024309925.1  storkhead-box protein 2 isoform X6

    Conserved Domains (1) summary
    pfam10264
    Location:278
    Stork_head; Winged helix Storkhead-box1 domain
  6. XM_011532131.1XP_011530433.1  storkhead-box protein 2 isoform X4

    Conserved Domains (1) summary
    pfam10264
    Location:1894
    Stork_head; Winged helix Storkhead-box1 domain
  7. XM_017008467.1XP_016863956.1  storkhead-box protein 2 isoform X5

    Conserved Domains (1) summary
    pfam10264
    Location:1793
    Stork_head; Winged helix Storkhead-box1 domain
  8. XM_024454155.1XP_024309923.1  storkhead-box protein 2 isoform X6

    Conserved Domains (1) summary
    pfam10264
    Location:278
    Stork_head; Winged helix Storkhead-box1 domain

RNA

  1. XR_938767.1 RNA Sequence

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