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Aliases for SNX10 Gene

Aliases for SNX10 Gene

  • Sorting Nexin 10 2 3 5
  • Sorting Nexin-10 3
  • OPTB8 3

External Ids for SNX10 Gene

Previous GeneCards Identifiers for SNX10 Gene

  • GC07P025975
  • GC07P026073
  • GC07P026104
  • GC07P026298
  • GC07P026331
  • GC07P026213

Summaries for SNX10 Gene

Entrez Gene Summary for SNX10 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. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

GeneCards Summary for SNX10 Gene

SNX10 (Sorting Nexin 10) is a Protein Coding gene. Diseases associated with SNX10 include Osteopetrosis, Autosomal Recessive 8 and Autosomal Recessive Malignant Osteopetrosis. GO annotations related to this gene include phosphatidylinositol binding and 1-phosphatidylinositol binding. An important paralog of this gene is SNX11.

UniProtKB/Swiss-Prot for SNX10 Gene

  • Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.

Additional gene information for SNX10 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNX10 Gene

Genomics for SNX10 Gene

Regulatory Elements for SNX10 Gene

Enhancers for SNX10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H026328 1.6 FANTOM5 Ensembl ENCODE dbSUPER 38.5 +38.1 38134 2 HDGF CTCF FOXA2 MAX EBF1 BATF POLR2A EED FOS RUNX3 SNX10 CBX3 HNRNPA2B1 LOC105375304
GH07H026304 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +14.6 14623 4 HDAC1 ELF3 ARID4B RAD21 RARA FOS CREM THAP11 CEBPB REST SNX10 CBX3 HNRNPA2B1 LOC105375304
GH07H026291 1.7 FANTOM5 ENCODE dbSUPER 22.5 +1.6 1611 4 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF766 GLIS2 ELK1 ZNF143 SNX10 C7orf71 CBX3 LOC105375304
GH07H026099 1.4 FANTOM5 Ensembl ENCODE 24.9 -190.1 -190060 4 ELF3 ZFP64 MAX TEAD3 POLR2A ZSCAN5C NR2F6 ZBTB20 EZH2 ZNF687 SNX10 HNRNPA2B1 LOC105375198 LOC105375199
GH07H026313 1.4 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +22.4 22429 1 ZNF217 IKZF1 RUNX3 IKZF2 ZNF592 SPI1 SNX10 CBX3 HNRNPA2B1 LOC105375304
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNX10 on UCSC Golden Path with GeneCards custom track

Promoters for SNX10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209755 205 1401 MLX ARNT ZFP64 ARID4B ZNF766 GLIS2 ELK1 ZNF143 RUNX3 SP3

Genomic Location for SNX10 Gene

Chromosome:
7
Start:
26,291,895 bp from pter
End:
26,374,383 bp from pter
Size:
82,489 bases
Orientation:
Plus strand

Genomic View for SNX10 Gene

Genes around SNX10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNX10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNX10 Gene

Proteins for SNX10 Gene

  • Protein details for SNX10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5X0-SNX10_HUMAN
    Recommended name:
    Sorting nexin-10
    Protein Accession:
    Q9Y5X0
    Secondary Accessions:
    • E9PFH5
    • Q8IYT5

    Protein attributes for SNX10 Gene

    Size:
    201 amino acids
    Molecular mass:
    23598 Da
    Quaternary structure:
    • Interacts with ATP6V1D; may play a role in ciliogenesis.

    Three dimensional structures from OCA and Proteopedia for SNX10 Gene

    Alternative splice isoforms for SNX10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNX10 Gene

Post-translational modifications for SNX10 Gene

  • Ubiquitination at isoforms=79 and Lys148
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SNX10
  • Santa Cruz Biotechnology (SCBT) Antibodies for SNX10

No data available for DME Specific Peptides for SNX10 Gene

Domains & Families for SNX10 Gene

Gene Families for SNX10 Gene

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

Protein Domains for SNX10 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SNX10 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5X0

UniProtKB/Swiss-Prot:

SNX10_HUMAN :
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.
  • Belongs to the sorting nexin family.
Domain:
  • The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.
Family:
  • Belongs to the sorting nexin family.
genes like me logo Genes that share domains with SNX10: view

Function for SNX10 Gene

Molecular function for SNX10 Gene

UniProtKB/Swiss-Prot Function:
Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.

Phenotypes From GWAS Catalog for SNX10 Gene

Gene Ontology (GO) - Molecular Function for SNX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005545 1-phosphatidylinositol binding IMP 17012226
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding IEA --
GO:0051117 ATPase binding IPI 21844891
genes like me logo Genes that share ontologies with SNX10: view
genes like me logo Genes that share phenotypes with SNX10: view

Human Phenotype Ontology for SNX10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNX10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SNX10 Gene

Localization for SNX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNX10 Gene

Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=May also localize to nucleus and endoplasmic reticulum.

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 SNX10 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
endoplasmic reticulum 5
endosome 5
cytosol 3
extracellular 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22174188
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 22174188
GO:0005813 colocalizes_with centrosome IDA 21844891
genes like me logo Genes that share ontologies with SNX10: view

Pathways & Interactions for SNX10 Gene

SuperPathways for SNX10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IBA --
GO:0007032 endosome organization IMP 17012226
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with SNX10: view

No data available for Pathways by source and SIGNOR curated interactions for SNX10 Gene

Drugs & Compounds for SNX10 Gene

No Compound Related Data Available

Transcripts for SNX10 Gene

Unigene Clusters for SNX10 Gene

Sorting nexin 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNX10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SNX10 Gene

No ASD Table

Relevant External Links for SNX10 Gene

GeneLoc Exon Structure for
SNX10
ECgene alternative splicing isoforms for
SNX10

Expression for SNX10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNX10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNX10 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x5.7) and Brain - Frontal Cortex (BA9) (x5.5).

Protein differential expression in normal tissues from HIPED for SNX10 Gene

This gene is overexpressed in Placenta (46.4) and Retina (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SNX10 Gene



Protein tissue co-expression partners for SNX10 Gene

NURSA nuclear receptor signaling pathways regulating expression of SNX10 Gene:

SNX10

SOURCE GeneReport for Unigene cluster for SNX10 Gene:

Hs.741316

Evidence on tissue expression from TISSUES for SNX10 Gene

  • Nervous system(4.8)
  • Kidney(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNX10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SNX10: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SNX10 Gene

Orthologs for SNX10 Gene

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

Orthologs for SNX10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNX10 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia SNX10 33 34
  • 92.83 (n)
dog
(Canis familiaris)
Mammalia SNX10 33 34
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Snx10 33 16 34
  • 88.23 (n)
rat
(Rattus norvegicus)
Mammalia Snx10 33
  • 87.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SNX10 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNX10 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNX10 33 34
  • 75 (n)
lizard
(Anolis carolinensis)
Reptilia SNX10 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snx10 33
  • 67.29 (n)
zebrafish
(Danio rerio)
Actinopterygii snx10a 33 34
  • 64.26 (n)
snx10b 34
  • 54 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNX3 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
OneToMany
Species where no ortholog for SNX10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 SNX10 Gene

ENSEMBL:
Gene Tree for SNX10 (if available)
TreeFam:
Gene Tree for SNX10 (if available)

Paralogs for SNX10 Gene

Paralogs for SNX10 Gene

(4) SIMAP similar genes for SNX10 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SNX10: view

Variants for SNX10 Gene

Sequence variations from dbSNP and Humsavar for SNX10 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs398123011 Pathogenic, Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] 26,364,575(+) TGTAC(A/G)AAGAA intron-variant, reference, missense
rs771038257 Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] 26,361,045(+) TGACT(A/C)TGAGA reference, missense, utr-variant-5-prime
rs779298714 Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085] 26,360,997(+) GGTTC(A/G/T)AGATC reference, missense, utr-variant-5-prime
VAR_069301 Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]
rs587777490 Pathogenic 26,360,996(+) GGGTT(C/T)GAGAT reference, stop-gained, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SNX10 Gene

Variant ID Type Subtype PubMed ID
esv2631761 CNV insertion 19546169
esv2761313 CNV gain 21179565
esv3307493 CNV mobile element insertion 20981092
esv3441454 CNV insertion 20981092
esv3612634 CNV gain 21293372
esv3612636 CNV loss 21293372
nsv1018352 CNV loss 25217958
nsv366364 CNV deletion 16902084
nsv7393 OTHER inversion 18451855

Variation tolerance for SNX10 Gene

Residual Variation Intolerance Score: 28.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNX10 Gene

Human Gene Mutation Database (HGMD)
SNX10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNX10 Gene

Disorders for SNX10 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SNX10 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 8
  • autosomal recessive osteopetrosis 8
autosomal recessive malignant osteopetrosis
  • infantile malignant osteopetrosis
snx10-related autosomal recessive osteopetrosis
  • optb8, osteopetrosis, autosomal recessive 8
osteopetrosis
  • albers-schonberg osteopetrosis
hyperostosis, endosteal
  • osteosclerosis
- elite association - COSMIC cancer census association via MalaCards
Search SNX10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SNX10_HUMAN
  • Osteopetrosis, autosomal recessive 8 (OPTB8) [MIM:615085]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired. {ECO:0000269 PubMed:22499339, ECO:0000269 PubMed:23123320, ECO:0000269 PubMed:23280965}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SNX10

Genetic Association Database (GAD)
SNX10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNX10
genes like me logo Genes that share disorders with SNX10: view

No data available for Genatlas for SNX10 Gene

Publications for SNX10 Gene

  1. Sorting nexin 10 induces giant vacuoles in mammalian cells. (PMID: 17012226) Qin B … Pei D (The Journal of biological chemistry 2006) 2 3 4 22 60
  2. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (PMID: 23280965) Pangrazio A … Sobacchi C (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2013) 3 4 60
  3. An SNX10 mutation causes malignant osteopetrosis of infancy. (PMID: 22499339) Aker M … Elpeleg O (Journal of medical genetics 2012) 3 4 60
  4. SNX10 is required for osteoclast formation and resorption activity. (PMID: 22174188) Zhu CH … Battaglino RA (Journal of cellular biochemistry 2012) 3 4 60
  5. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. (PMID: 21844891) Chen Y … Pei D (Cell research 2012) 3 4 60

Products for SNX10 Gene

Sources for SNX10 Gene

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