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Aliases for ENSG00000280893 Gene
External Ids for ENSG00000280893 Gene
- Ensembl: ENSG00000280893
- UniProtKB/TrEMBL: A0A0G2JLL6
Previous GeneCards Identifiers for ENSG00000280893 Gene
- GC16P029858
- GC16P029980
- GC16P029996
- GC16P030012
- GC16P030049
- GC16P029872
- GC16P029881
- GC16P029890
- GC16P029900
- GC16P029909
- GC16P029932
- GC16P029953
- GC16P029966
- GC16P030095
Summaries for ENSG00000280893 Gene
GeneCards Summary for ENSG00000280893 Gene
ENSG00000280893 is a Protein Coding gene. An important paralog of this gene is PRRT2.
Additional gene information for ENSG00000280893 Gene
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENSG00000280893 Gene
Genomics for ENSG00000280893 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ENSG00000280893 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16J029803 | Promoter/Enhancer | 2.5 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | -1.5 | -1519 | 14.9 | ZSCAN16 CHD2 TBP ZBTB10 SP1 BCL11A MXD4 FEZF1 CEBPA SIX5 | PRRT2 ENSG00000280893 LOC112268170 MAZ piR-45320 piR-53734 piR-50884 piR-51020 PAGR1 SRCAP | |
| GH16J029819 | Promoter/Enhancer | 1.9 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 0.4 | +10.3 | 10271 | 8.3 | CEBPA NR2C1 IKZF1 ZNF217 POLR2A CTCF ZIC2 HOMEZ SIN3A RAD51 | MVP ENSG00000238045 ENSG00000261766 SH2B1 ZNF785 DOC2A TAOK2 TMEM219 INO80E HIRIP3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ENSG00000280893 on the GeneHancer Hub at the UCSC Golden Path
Genomic Locations for ENSG00000280893 Gene
Latest Assembly
- chr16:29,812,261-29,820,092
- (GRCh38/hg38)
- Size:
- 7,832 bases
- Orientation:
- Plus strand
Genomic View for ENSG00000280893 Gene
Genes around ENSG00000280893 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Ensembl
ENSG00000280893 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
No data available for RefSeq DNA sequence for ENSG00000280893 Gene
Proteins for ENSG00000280893 Gene
-
Protein details for ENSG00000280893 Gene (UniProtKB/TrEMBL)
- Protein Symbol:
- A0A0G2JLL6-A0A0G2JLL6_HUMAN
- Recommended name:
- Uncharacterized protein
- Protein Accession:
- A0A0G2JLL6
Protein attributes for ENSG00000280893 Gene
- Size:
- 359 amino acids
- Molecular mass:
- 36833 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for ENSG00000280893 Gene
No Post-translational modifications
Other Protein References for ENSG00000280893 Gene
- ENSEMBL proteins:
Antibodies for research
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ENSG00000280893
- Origene Custom Protein Services for ENSG00000280893
Assay products for research
No data available for DME Specific Peptides for ENSG00000280893 Gene
Domains & Families for ENSG00000280893 Gene
Gene Families for ENSG00000280893 Gene
- Unknown:
-
- Belongs to the CD225/Dispanin family.
Protein Domains for ENSG00000280893 Gene
- InterPro:
- ProtoNet:
No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENSG00000280893 Gene
Function for ENSG00000280893 Gene
Phenotypes From GWAS Catalog for ENSG00000280893 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0017075 | syntaxin-1 binding | IEA | -- |
| GO:0017124 | SH3 domain binding | IEA | -- |
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Browse CRISPR knockouts for ENSG00000280893
miRNA products for research
Inhibitory RNAs for research
Clone products for research
No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000280893 Gene
Localization for ENSG00000280893 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0008021 | synaptic vesicle | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031982 | vesicle | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for ENSG00000280893 Gene
Pathways & Interactions for ENSG00000280893 Gene
Interacting Proteins for ENSG00000280893 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031629 | synaptic vesicle fusion to presynaptic active zone membrane | IEA | -- |
| GO:0035544 | negative regulation of SNARE complex assembly | IEA | -- |
| GO:0099502 | calcium-dependent activation of synaptic vesicle fusion | IEA | -- |
| GO:1905513 | negative regulation of short-term synaptic potentiation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ENSG00000280893 Gene
Transcripts for ENSG00000280893 Gene
mRNA/cDNA for ENSG00000280893 Gene
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000609618 2252 nts (view in UCSC)
CRISPR products for research
- Browse CRISPR knockouts for ENSG00000280893
miRNA products for research
Inhibitory RNAs for research
Clone products for research
Relevant External Links for ENSG00000280893 Gene
- GeneLoc Exon Structure for
- ENSG00000280893
Expression for ENSG00000280893 Gene
No Expression Related Data Available
Primer products for research
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000280893 Gene
Orthologs for ENSG00000280893 Gene
No data available for Orthologs for ENSG00000280893 Gene
Paralogs for ENSG00000280893 Gene
Variants for ENSG00000280893 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000280893 Gene
Disorders for ENSG00000280893 Gene
No disorders were found for ENSG00000280893 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000280893 Gene
Publications for ENSG00000280893 Gene
- The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 13
No data available for Mastermind for ENSG00000280893 Gene
Products for ENSG00000280893 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ENSG00000280893
- Origene Custom Protein Services for ENSG00000280893
- Browse OriGene Inhibitory RNA Products For ENSG00000280893
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for ENSG00000280893
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ENSG00000280893
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for ENSG00000280893
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for ENSG00000280893
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ENSG00000280893
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for ENSG00000280893
Sources for ENSG00000280893 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB