SYPL2 Gene (Protein Coding)

Synaptophysin Like 2

GC01P109466
GIFtS:
36
See more...

Aliases for SYPL2 Gene

Aliases for SYPL2 Gene

  • Synaptophysin Like 2 2 3 5
  • Synaptophysin-Like Protein 2 3 4
  • Synaptophysin-Like 2 2
  • Mitsugumin-29 2
  • Mitsugumin 29 3
  • SYPL2 5
  • MG29 3
  • Mg29 2

External Ids for SYPL2 Gene

Previous GeneCards Identifiers for SYPL2 Gene

  • GC01P109722
  • GC01P110010
  • GC01P107902

Summaries for SYPL2 Gene

GeneCards Summary for SYPL2 Gene

SYPL2 (Synaptophysin Like 2) is a Protein Coding gene. Diseases associated with SYPL2 include Hypophosphatemic Nephrolithiasis/Osteoporosis and T Cell And Nk Cell Immunodeficiency. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is SYNPR.

UniProtKB/Swiss-Prot Summary for SYPL2 Gene

  • Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes.

Additional gene information for SYPL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYPL2 Gene

Genomics for SYPL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SYPL2 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
GH01J109465 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 302.3 +0.7 697 2.8 MXD4 ZIC2 SIN3A VEZF1 SAP130 KLF7 KLF9 ZNF658 SP2 ZFP91 SYPL2 AMIGO1 UBL4B HSALNG0005889 ATXN7L2
GH01J109466 Enhancer 0.6 Ensembl 250.7 -1.0 -977 0.2 PRDM6 HLTF ZNF624 SMARCA4 HDAC2 ZNF189 ZNF407 ZNF362 CBX2 L3MBTL2 SYPL2 UBL4B lnc-SYPL2-2 PSMA5
GH01J109389 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 46.6 -72.1 -72096 10.5 CHD2 TBP SP1 MXD4 FOXA1 MNT IKZF1 SMAD5 IRF2 HES1 SORT1 SYPL2 PRPF38B PSRC1 ENSG00000258634 ENSG00000273373 MYBPHL STRIP1 SARS1 AMIGO1
GH01J109423 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 47.2 -40.8 -40818 4.8 ZSCAN16 TBP ZBTB10 MXD4 SP1 NR2C1 MNT DEK IKZF1 SMAD5 PSMA5 lnc-SYPL2-2 SYPL2 AMIGO1 ENSG00000258634 STRIP1 ATXN7L2 lnc-SYPL2-1 SORT1
GH01J109482 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 41.7 +17.5 17546 2.4 ZSCAN16 TBP ZBTB10 SP1 FEZF1 SIX5 NR2C1 MNT SMAD5 IRF2 ATXN7L2 HSALNG0005891 ENSG00000258634 PRPF38B STRIP1 RPL17P7 SYPL2 ENSG00000273373 RBM15 ENSG00000228665
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYPL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYPL2

Top Transcription factor binding sites by QIAGEN in the SYPL2 gene promoter:
  • ATF6
  • CREB
  • deltaCREB
  • LyF-1
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • RSRFC4

Genomic Locations for SYPL2 Gene

Latest Assembly
chr1:109,466,478-109,482,142
(GRCh38/hg38)
Size:
15,665 bases
Orientation:
Plus strand

Previous Assembly
chr1:110,009,168-110,024,756
(GRCh37/hg19 by Entrez Gene)
Size:
15,589 bases
Orientation:
Plus strand

chr1:110,009,180-110,024,759
(GRCh37/hg19 by Ensembl)
Size:
15,580 bases
Orientation:
Plus strand

Genomic View for SYPL2 Gene

Genes around SYPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYPL2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SYPL2 Gene

Proteins for SYPL2 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SYPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VXT5-SYPL2_HUMAN
    Recommended name:
    Synaptophysin-like protein 2
    Protein Accession:
    Q5VXT5
    Secondary Accessions:
    • A8K0E8
    • A8KAL7
    • I0IT67
    • Q6ZMX1

    Protein attributes for SYPL2 Gene

    Size:
    272 amino acids
    Molecular mass:
    30156 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SYPL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYPL2 Gene

Protein Expression for SYPL2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SYPL2 Gene

  • Glycosylation at Asn213
  • Modification sites at PhosphoSitePlus

Other Protein References for SYPL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SYPL2
  • Boster Bio Antibodies for SYPL2

No data available for DME Specific Peptides for SYPL2 Gene

Domains & Families for SYPL2 Gene

Gene Families for SYPL2 Gene

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

Protein Domains for SYPL2 Gene

InterPro:
Blocks:
  • Marvel
ProtoNet:

Suggested Antigen Peptide Sequences for SYPL2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57854, highly similar to Synaptophysin-like protein 2 (B4DYR7_HUMAN)
  • SYPL2 protein (Q14DL7_HUMAN)
  • Synaptophysin-like protein 2 (SYPL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VXT5

UniProtKB/Swiss-Prot:

SYPL2_HUMAN :
  • Belongs to the synaptophysin/synaptobrevin family.
Family:
  • Belongs to the synaptophysin/synaptobrevin family.
genes like me logo Genes that share domains with SYPL2: view

Function for SYPL2 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SYPL2 Gene

UniProtKB/Swiss-Prot Function:
Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes.

Phenotypes From GWAS Catalog for SYPL2 Gene

Gene Ontology (GO) - Molecular Function for SYPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017075 syntaxin-1 binding IBA 21873635
genes like me logo Genes that share ontologies with SYPL2: view
genes like me logo Genes that share phenotypes with SYPL2: view

Animal Models for SYPL2 Gene

MGI Knock Outs for SYPL2:

Animal Models for research

  • Taconic Biosciences Mouse Models for SYPL2

miRNA for SYPL2 Gene

miRTarBase miRNAs that target SYPL2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYPL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYPL2 Gene

Localization for SYPL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYPL2 Gene

Membrane. Multi-pass membrane protein. Note=Triad junction, the junctional complex between the transverse tubule and the sarcoplasmic reticulum. {ECO:0000250}.

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 SYPL2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030672 synaptic vesicle membrane IBA 21873635
genes like me logo Genes that share ontologies with SYPL2: view

Pathways & Interactions for SYPL2 Gene

PathCards logo

SuperPathways for SYPL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SYPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007507 heart development IEA --
GO:0021762 substantia nigra development HEP 22926577
GO:0033292 T-tubule organization IEA --
genes like me logo Genes that share ontologies with SYPL2: view

No data available for Pathways by source and SIGNOR curated interactions for SYPL2 Gene

Drugs & Compounds for SYPL2 Gene

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  1. Drug products for research

(2) Drugs for SYPL2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SYPL2: view

Transcripts for SYPL2 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for SYPL2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYPL2

Alternative Splicing Database (ASD) splice patterns (SP) for SYPL2 Gene

No ASD Table

Relevant External Links for SYPL2 Gene

GeneLoc Exon Structure for
SYPL2

Expression for SYPL2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYPL2 Gene

mRNA expression in normal human tissues for SYPL2 Gene
mRNA expression by BioGPS for SYPL2 GenemRNA expression by GTEx for SYPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYPL2 Gene

This gene is overexpressed in Muscle - Skeletal (x27.5).

Protein differential expression in normal tissues from HIPED for SYPL2 Gene

This gene is overexpressed in Tonsil (29.7), Oral epithelium (11.5), and Esophagus (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SYPL2 Gene



Protein tissue co-expression partners for SYPL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYPL2

SOURCE GeneReport for Unigene cluster for SYPL2 Gene:

Hs.528366

Evidence on tissue expression from TISSUES for SYPL2 Gene

  • Muscle(4.5)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SYPL2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYPL2 Gene

Orthologs for SYPL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYPL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SYPL2 30 31
  • 99.37 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SYPL2 30 31
  • 92.17 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sypl2 30 17 31
  • 90.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sypl2 30
  • 90.53 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SYPL2 31
  • 90 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SYPL2 30 31
  • 87.57 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SYPL2 31
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SYPL2 30 31
  • 73.72 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SYPL2 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sypl2 30
  • 63.55 (n)
Zebrafish
(Danio rerio)
 Actinopterygii sypl2b 31
  • 48 (a)
 OneToMany
sypl2a 31
  • 44 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea sph-1 31
  • 24 (a)
 OneToMany
Species where no ortholog for SYPL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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 Squirt (Ciona savignyi)
  • 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)

Evolution for SYPL2 Gene

ENSEMBL:
Gene Tree for SYPL2 (if available)
TreeFam:
Gene Tree for SYPL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYPL2: view image

Paralogs for SYPL2 Gene

Paralogs for SYPL2 Gene

(4) SIMAP similar genes for SYPL2 Gene using alignment to 3 proteins:

  • SYPL2_HUMAN
  • B4DYR7_HUMAN
  • Q14DL7_HUMAN
genes like me logo Genes that share paralogs with SYPL2: view

Variants for SYPL2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SYPL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SYPL2 Gene

Variant ID Type Subtype PubMed ID
esv3578079 CNV loss 25503493

Variation tolerance for SYPL2 Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYPL2 Gene

Human Gene Mutation Database (HGMD)
SYPL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYPL2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYPL2 Gene

Disorders for SYPL2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SYPL2 Gene - From: COP

Disorder Aliases PubMed IDs
hypophosphatemic nephrolithiasis/osteoporosis
  • nephrolithiasis/osteoporosis, hypophosphatemic
t cell and nk cell immunodeficiency
immunodeficiency 10
  • imd10
stormorken syndrome
  • strmk
malignant hyperthermia
  • anesthesia related hyperthermia
- elite association - COSMIC cancer census association via MalaCards
Search SYPL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SYPL2

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SYPL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYPL2 Gene

Publications for SYPL2 Gene

  1. Mitsugumin 29 is transcriptionally induced in senile plaque-associated astrocytes. (PMID: 22290180) Satoh K … Yamada T (Brain research 2012) 3 4
  2. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 41
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3

ExternalLinks

View latest publications for SYPL2 gene in Mastermind

Products for SYPL2 Gene

Sources for SYPL2 Gene