This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A relate... See more...

Aliases for SNX7 Gene

Aliases for SNX7 Gene

  • Sorting Nexin 7 2 3 5
  • Sorting Nexin-7 3 4
  • SNX7 5

External Ids for SNX7 Gene

Previous GeneCards Identifiers for SNX7 Gene

  • GC01P099924
  • GC01P098252
  • GC01P098418
  • GC01P098839
  • GC01P099127
  • GC01P097250

Summaries for SNX7 Gene

Entrez Gene Summary for SNX7 Gene

  • This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]

GeneCards Summary for SNX7 Gene

SNX7 (Sorting Nexin 7) is a Protein Coding gene. Diseases associated with SNX7 include Spastic Paraplegia 29, Autosomal Dominant and Hereditary Spastic Paraplegia. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding. An important paralog of this gene is SNX30.

UniProtKB/Swiss-Prot Summary for SNX7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNX7 Gene

Genomics for SNX7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNX7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J098660 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 615.7 +1.1 1149 3.7 ZNF629 REST ZNF692 ZNF7 LARP7 PRDM1 RBFOX2 RXRB PATZ1 IRF2 SNX7 ENSG00000280040 piR-32427 lnc-PLPPR5-7 piR-60146-009 PLPPR5
GH01J098704 Enhancer 0.6 Ensembl ENCODE 23.7 +43.9 43945 2.1 RFX5 RFX1 YY1 BMI1 NFIL3 HLF SNX7 piR-32810-004 piR-60146-009 PLPPR5
GH01J099004 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 4.6 +343.2 343164 2.5 TEAD4 ZIC2 EZH2 ZFHX2 CTCF TBP BACH1 L3MBTL2 EGR1 ENSG00000232825 LOC100129620 PLPPR5 lnc-FRRS1-5 SNX7
GH01J098674 Enhancer 0.5 Ensembl 13.6 +13.1 13116 0.4 PRDM10 ZNF629 ZBTB17 ZNF366 HLF SNX7 piR-60146-009 lnc-PLPPR5-7 PLPPR5
GH01J098677 Enhancer 0.4 Ensembl ENCODE 13.5 +16.2 16217 1 JUND piR-60146-009 SNX7 lnc-PLPPR5-7 PLPPR5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNX7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNX7

Top Transcription factor binding sites by QIAGEN in the SNX7 gene promoter:
  • aMEF-2
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • MEF-2A
  • p300
  • SEF-1 (1)
  • Sp1
  • TBP

Genomic Locations for SNX7 Gene

Genomic Locations for SNX7 Gene
chr1:98,661,284-98,760,500
(GRCh38/hg38)
Size:
99,217 bases
Orientation:
Plus strand
chr1:99,127,236-99,226,056
(GRCh37/hg19)
Size:
98,821 bases
Orientation:
Plus strand

Genomic View for SNX7 Gene

Genes around SNX7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX7 Gene

Proteins for SNX7 Gene

  • Protein details for SNX7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNH6-SNX7_HUMAN
    Recommended name:
    Sorting nexin-7
    Protein Accession:
    Q9UNH6
    Secondary Accessions:
    • A8KAF3
    • D3DT50
    • Q53FQ3
    • Q5VT09
    • Q5VT10
    • Q86U82
    • Q8WVD4
    • Q96FW9
    • Q9Y3Z7

    Protein attributes for SNX7 Gene

    Size:
    387 amino acids
    Molecular mass:
    45303 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27830.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD96949.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNX7 Gene

    Alternative splice isoforms for SNX7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX7 Gene

Post-translational modifications for SNX7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SNX7
  • Boster Bio Antibodies for SNX7

No data available for DME Specific Peptides for SNX7 Gene

Domains & Families for SNX7 Gene

Gene Families for SNX7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SNX7 Gene

InterPro:
Blocks:
  • Phox-like
ProtoNet:

Suggested Antigen Peptide Sequences for SNX7 Gene

GenScript: Design optimal peptide antigens:
  • Sorting nexin-7 (SNX7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNH6

UniProtKB/Swiss-Prot:

SNX7_HUMAN :
  • Belongs to the sorting nexin family.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX7: view

Function for SNX7 Gene

Molecular function for SNX7 Gene

UniProtKB/Swiss-Prot Function:
May be involved in several stages of intracellular trafficking.

Phenotypes From GWAS Catalog for SNX7 Gene

Gene Ontology (GO) - Molecular Function for SNX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with SNX7: view
genes like me logo Genes that share phenotypes with SNX7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNX7 Gene

Localization for SNX7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX7 Gene

Cytoplasmic vesicle membrane. Peripheral membrane protein. Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNX7 gene
Compartment Confidence
nucleus 4
cytosol 3
endosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with SNX7: view

Pathways & Interactions for SNX7 Gene

PathCards logo

SuperPathways for SNX7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SNX7: view

No data available for Pathways by source and SIGNOR curated interactions for SNX7 Gene

Drugs & Compounds for SNX7 Gene

No Compound Related Data Available

Transcripts for SNX7 Gene

mRNA/cDNA for SNX7 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNX7

Alternative Splicing Database (ASD) splice patterns (SP) for SNX7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: -

Relevant External Links for SNX7 Gene

GeneLoc Exon Structure for
SNX7

Expression for SNX7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNX7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNX7 Gene

This gene is overexpressed in Adrenal (18.9), Testis (12.8), Plasma (11.8), and Colon (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNX7 Gene



Protein tissue co-expression partners for SNX7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNX7

SOURCE GeneReport for Unigene cluster for SNX7 Gene:

Hs.197015

Evidence on tissue expression from TISSUES for SNX7 Gene

  • Nervous system(4.4)
  • Intestine(4.2)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with SNX7: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX7 Gene

Orthologs for SNX7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNX7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SNX7 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SNX7 30 31
  • 93.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SNX7 30 31
  • 91.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Snx7 30
  • 86.27 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SNX7 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Snx7 30 17 31
  • 84.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SNX7 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SNX7 30 31
  • 76.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNX7 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia snx7 30
  • 70.72 (n)
Str.3486 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6955 30
Zebrafish
(Danio rerio)
Actinopterygii snx7 30 31
  • 64.57 (n)
OneToOne
Dr.13759 30
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX4 31
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9288 31
  • 36 (a)
OneToMany
Species where no ortholog for SNX7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SNX7 Gene

ENSEMBL:
Gene Tree for SNX7 (if available)
TreeFam:
Gene Tree for SNX7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNX7: view image

Paralogs for SNX7 Gene

(2) SIMAP similar genes for SNX7 Gene using alignment to 4 proteins:

  • SNX7_HUMAN
  • B7ZC83_HUMAN
  • E9PLE1_HUMAN
  • E9PNL2_HUMAN

Pseudogenes.org Pseudogenes for SNX7 Gene

genes like me logo Genes that share paralogs with SNX7: view

Variants for SNX7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNX7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
719339 Benign: not provided 98,695,628(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs12033678 - p.Ser278Asn
rs35391040 - p.Phe186Leu

Additional dbSNP identifiers (rs#s) for SNX7 Gene

Structural Variations from Database of Genomic Variants (DGV) for SNX7 Gene

Variant ID Type Subtype PubMed ID
esv2662446 CNV deletion 23128226
esv2670043 CNV deletion 23128226
esv2715240 CNV deletion 23290073
esv2715252 CNV deletion 23290073
esv3566348 CNV deletion 23714750
esv3586905 CNV gain 21293372
esv3586908 CNV loss 21293372
nsv1010934 CNV loss 25217958
nsv2065 CNV deletion 18451855
nsv830747 CNV loss 17160897
nsv830760 CNV gain 17160897

Variation tolerance for SNX7 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNX7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX7 Gene

Disorders for SNX7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNX7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 29, autosomal dominant
  • spg29
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search SNX7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNX7

genes like me logo Genes that share disorders with SNX7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNX7 Gene

Publications for SNX7 Gene

  1. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PMID: 21873549) Strawbridge RJ … Florez JC (Diabetes 2011) 3 41
  2. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. (PMID: 16130112) Orlacchio A … Bernardi G (Annals of neurology 2005) 3 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A large family of endosome-localized proteins related to sorting nexin 1. (PMID: 11485546) Teasdale RD … Gleeson PA (The Biochemical journal 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for SNX7 Gene

Sources for SNX7 Gene