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This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been descr... See more...
Aliases for SYNRG Gene
Aliases for SYNRG Gene
External Ids for SYNRG Gene
- HGNC: 557
- NCBI Entrez Gene: 11276
- Ensembl: ENSG00000275066
- OMIM®: 607291
- UniProtKB/Swiss-Prot: Q9UMZ2
Previous HGNC Symbols for SYNRG Gene
- AP1GBP1
Previous GeneCards Identifiers for SYNRG Gene
- GC17M032953
- GC17M035874
- GC17M031812
Summaries for SYNRG Gene
-
This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SYNRG Gene
SYNRG (Synergin Gamma) is a Protein Coding gene. Diseases associated with SYNRG include Deafness, Autosomal Recessive 84A and Chromosome 17Q12 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
UniProtKB/Swiss-Prot Summary for SYNRG Gene
-
May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins.
Additional gene information for SYNRG Gene
- HGNC (557)
- NCBI Entrez Gene (11276)
- Ensembl (ENSG00000275066)
- OMIM® (607291)
- UniProtKB/Swiss-Prot (Q9UMZ2)
- Open Targets Platform(ENSG00000275066)
- Monarch Initiative
- Search for SYNRG at DataMed
- Search for SYNRG at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYNRG Gene
Genomics for SYNRG Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SYNRG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SYNRG on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNRG
Genomic Locations for SYNRG Gene
Latest Assembly
- chr17:37,514,807-37,609,496
- (GRCh38/hg38)
- Size:
- 94,690 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:35,874,910-35,969,466
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 94,557 bases
- Orientation:
- Minus strand
Genomic View for SYNRG Gene
Genes around SYNRG on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
SYNRG 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
RefSeq DNA sequence for SYNRG Gene
Proteins for SYNRG Gene
-
Protein details for SYNRG Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UMZ2-SYNRG_HUMAN
- Recommended name:
- Synergin gamma
- Protein Accession:
- Q9UMZ2
- A8MWU4
- B7ZKZ2
- B7ZKZ3
- Q17RI2
- Q5BKU5
- Q6ZT17
Protein attributes for SYNRG Gene
- Size:
- 1314 amino acids
- Molecular mass:
- 140654 Da
- Quaternary structure:
-
- Interacts with SCAMP1 via its EH-domain (By similarity). Interacts with GGA1, GGA2 and GGA3. Interacts with the AP1G1 and AP1G2 subunits of the adapter protein complexes AP-1.
- SequenceCaution:
-
- Sequence=AK126988; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
Protein Expression for SYNRG Gene
Post-translational modifications for SYNRG Gene
Other Protein References for SYNRG Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005257037.1
- XP_016879565.1
- XP_016879566.1
- XP_016879567.1
- XP_016879568.1
- XP_016879570.1
- XP_016879571.1
- XP_016879572.1
- XP_016879573.1
- XP_016879574.1
- XP_016879575.1
- XP_016879576.1
- XP_016879577.1
- XP_016879578.1
- XP_016879579.1
- XP_016879580.1
- XP_016879581.1
- XP_016879582.1
- XP_016879583.1
- XP_016879584.1
- XP_016879585.1
- XP_016879586.1
- XP_016879587.1
- XP_016879588.1
- XP_016879589.1
- XP_016879590.1
- XP_016879591.1
- XP_016879592.1
- XP_016879593.1
- XP_016879594.1
- XP_016879595.1
- NP_001157016.1
- NP_001157017.1
- NP_001157018.1
- NP_001157019.1
- NP_009178.3
- NP_542117.3
- NP_942583.1
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SYNRG
- Novus Biologicals Antibodies for SYNRG
- Invitrogen Antibodies for SYNRG (AFLGC-SYNRG)
- antibodies-online: Show 9 available SYNRG Antibodies ranked by validation data
- Compare Top SYNRG Antibodies
-
Quality Products:
Protein products for research
-
OriGene Purified Proteins for SYNRG
- Search Origene for MassSpec and Protein Over-expression Lysates for SYNRG
- Origene Custom Protein Services for SYNRG
- antibodies-online: Show 4 available SYNRG Proteins ranked by validation data
- Compare Top SYNRG Proteins
-
Quality Products:
Assay products for research
No data available for DME Specific Peptides for SYNRG Gene
Domains & Families for SYNRG Gene
Gene Families for SYNRG Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for SYNRG Gene
- InterPro:
- Blocks:
-
- EPS15 homology (EH)
- ProtoNet:
Suggested Antigen Peptide Sequences for SYNRG Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ61496, highly similar to AP1 subunit gamma-binding protein 1 (A8MYE0_HUMAN)
- AP1GBP1 protein (B7ZKZ2_HUMAN)
- Gamma-synergin (SYNRG_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UMZ2UniProtKB/Swiss-Prot:
SYNRG_HUMAN :- The DFXDF motifs mediate the interaction with gamma-appendage subunits AP1G1 and AP1G2.
- Domain:
-
- The DFXDF motifs mediate the interaction with gamma-appendage subunits AP1G1 and AP1G2.
Function for SYNRG Gene
Molecular function for SYNRG Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins.
Phenotypes From GWAS Catalog for SYNRG Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for SYNRG Gene
- MGI mutant phenotypes for SYNRG:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SYNRG:
-
- no effect
- Decreased viability
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased caspase 3/7 activity
Animal Models for SYNRG Gene
- MGI Knock Outs for SYNRG:
-
- Synrg Synrg<tm1b(EUCOMM)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SYNRG - Starting at $85 >
- * SYNRG CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SYNRG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SYNRG
-
Santa Cruz Biotechnology (SCBT) CRISPR for SYNRG
miRNA for SYNRG Gene
- miRTarBase miRNAs that target SYNRG
-
- hsa-miR-1180-3p (MIRT035910)
- hsa-miR-1304-3p (MIRT369517)
- mmu-miR-3097-3p (MIRT597114)
- mmu-miR-717 (MIRT597115)
- mmu-miR-362-3p (MIRT597116)
- mmu-miR-329-3p (MIRT597117)
- mmu-miR-544-5p (MIRT597118)
- mmu-miR-3473d (MIRT605423)
- mmu-miR-674-5p (MIRT605424)
- mmu-miR-1896 (MIRT605426)
- mmu-miR-1954 (MIRT605427)
- mmu-miR-682 (MIRT605428)
- hsa-miR-3191-5p (MIRT627451)
- hsa-miR-4284 (MIRT627452)
- hsa-miR-29b-1-5p (MIRT627453)
- hsa-miR-4772-3p (MIRT627454)
- hsa-miR-6824-3p (MIRT627455)
- hsa-miR-6764-3p (MIRT627456)
- hsa-miR-330-5p (MIRT627457)
- hsa-miR-326 (MIRT627458)
- hsa-miR-518c-5p (MIRT627459)
- hsa-miR-6817-3p (MIRT627460)
- hsa-miR-4638-5p (MIRT627461)
- hsa-miR-1307-3p (MIRT627462)
- hsa-miR-6741-3p (MIRT627463)
- hsa-miR-6769b-3p (MIRT627464)
- hsa-miR-4723-3p (MIRT627465)
- hsa-miR-3183 (MIRT627466)
- hsa-miR-4485-5p (MIRT627467)
- hsa-miR-6890-3p (MIRT627468)
- hsa-miR-498 (MIRT665985)
- hsa-miR-24-3p (MIRT670442)
- hsa-miR-4783-3p (MIRT670443)
- hsa-miR-5693 (MIRT670444)
- hsa-miR-466 (MIRT725112)
- hsa-miR-4672 (MIRT725113)
- hsa-miR-3941 (MIRT725114)
- hsa-miR-603 (MIRT725115)
- hsa-miR-362-3p (MIRT725116)
- hsa-miR-329-3p (MIRT725117)
- hsa-miR-8485 (MIRT725118)
- hsa-miR-6875-3p (MIRT725119)
- hsa-miR-22-5p (MIRT725120)
- hsa-miR-1184 (MIRT725121)
- hsa-miR-5584-3p (MIRT725122)
- hsa-miR-5694 (MIRT725123)
- hsa-miR-383-5p (MIRT725124)
- hsa-miR-148a-5p (MIRT725125)
- hsa-miR-103a-3p (MIRT725126)
- hsa-miR-107 (MIRT725127)
- hsa-miR-195-5p (MIRT725128)
- hsa-miR-6838-5p (MIRT725129)
- hsa-miR-15a-5p (MIRT725130)
- hsa-miR-497-5p (MIRT725131)
- hsa-miR-424-5p (MIRT725132)
- hsa-miR-15b-5p (MIRT725133)
- hsa-miR-16-5p (MIRT725134)
- hsa-miR-193b-3p (MIRT728333)
- hsa-miR-193a-3p (MIRT728334)
- mmu-miR-466f-3p (MIRT791449)
- mmu-miR-466i-3p (MIRT791490)
- mmu-miR-466q (MIRT791593)
- mmu-miR-467f (MIRT791732)
- mmu-miR-669c-3p (MIRT791901)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SYNRG
- Browse OriGene Inhibitory RNA Products For SYNRG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNRG
Clone products for research
- Applied Biological Materials (abm): Clones for SYNRG - Starting at $45 >
- * SYNRG as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211695
- MG224023
- MR211695
- MR224023
- RC224534
- RC224534L3
- RC224534L4
- RC224585
- RC224585L3
- RC224585L4
- RC228650
- RC228650L3
- RC228650L4
- RC228659
- RC228659L3
- RC228659L4
- RC229063
- RC229063L3
- RC229063L4
- RC229068
- RC229068L3
- RC229068L4
- RC229069
- RC229069L3
- RC229069L4
- RG224534
- RG224585
- RG228650
- RG228659
- RG229063
- RG229068
- RG229069
- RR209031
- RC224534L3V
- RC224534L4V
- RC224585L3V
- RC224585L4V
- RC228650L3V
- RC228650L4V
- RC228659L3V
- RC228659L4V
- RC229063L3V
- RC229063L4V
- RC229068L3V
- RC229068L4V
- RC229069L3V
- RC229069L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SYNRG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SYNRG
Cell Lines for research
-
Horizon Cell Lines for SYNRG
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYNRG Gene
Localization for SYNRG Gene
Subcellular locations from UniProtKB/Swiss-Prot for SYNRG Gene
- Cytoplasm. Golgi apparatus, trans-Golgi network membrane. Peripheral membrane protein. Note=Associates with membranes via the adapter protein complex AP-1. Colocalizes with AP1G1 (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| golgi apparatus | 4 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | TAS | 10477754 |
| GO:0005794 | Golgi apparatus | TAS | 10477754 |
| GO:0016020 | membrane | IEA | -- |
| GO:0030121 | AP-1 adaptor complex | TAS | 10477754 |
| GO:0030130 | clathrin coat of trans-Golgi network vesicle | IBA | 21873635 |
Pathways & Interactions for SYNRG Gene
Interacting Proteins for SYNRG Gene
Selected Interacting proteins:
Q9UMZ2-SYNRG_HUMAN
ENSP00000483453
for SYNRG Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SYNRG
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | TAS | 10477754 |
| GO:0006897 | endocytosis | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SYNRG Gene
Transcripts for SYNRG Gene
mRNA/cDNA for SYNRG Gene
- 7 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000611910 1769 nts (view in UCSC)
- ENST00000612223 8141 nts (view in UCSC)
- ENST00000612641 280 nts (view in UCSC)
- ENST00000612770 527 nts (view in UCSC)
- ENST00000614000 4234 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SYNRG - Starting at $85 >
- * SYNRG CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SYNRG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SYNRG
-
Santa Cruz Biotechnology (SCBT) CRISPR for SYNRG
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SYNRG
- Browse OriGene Inhibitory RNA Products For SYNRG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNRG
Clone products for research
- Applied Biological Materials (abm): Clones for SYNRG - Starting at $45 >
- * SYNRG as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211695
- MG224023
- MR211695
- MR224023
- RC224534
- RC224534L3
- RC224534L4
- RC224585
- RC224585L3
- RC224585L4
- RC228650
- RC228650L3
- RC228650L4
- RC228659
- RC228659L3
- RC228659L4
- RC229063
- RC229063L3
- RC229063L4
- RC229068
- RC229068L3
- RC229068L4
- RC229069
- RC229069L3
- RC229069L4
- RG224534
- RG224585
- RG228650
- RG228659
- RG229063
- RG229068
- RG229069
- RR209031
- RC224534L3V
- RC224534L4V
- RC224585L3V
- RC224585L4V
- RC228650L3V
- RC228650L4V
- RC228659L3V
- RC228659L4V
- RC229063L3V
- RC229063L4V
- RC229068L3V
- RC229068L4V
- RC229069L3V
- RC229069L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SYNRG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SYNRG
Relevant External Links for SYNRG Gene
- GeneLoc Exon Structure for
- SYNRG
Expression for SYNRG Gene
This gene is overexpressed in Adrenal (23.6) and Peripheral blood mononuclear cells (11.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SYNRG Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNRG
SOURCE GeneReport for Unigene cluster for SYNRG Gene:
Hs.594647Evidence on tissue expression from TISSUES for SYNRG Gene
- Nervous system(4.8)
- Blood(4.3)
- Liver(4.3)
- Lung(2.6)
Primer products for research
-
OriGene qPCR primer pairs for SYNRG
-
OriGene qPCR primer pairs and template standards for SYNRG
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNRG Gene
Orthologs for SYNRG Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SYNRG 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | SYNRG 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | SYNRG 30 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Synrg 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Synrg 30 17 |
|
||
| Chicken (Gallus gallus) |
Aves | SYNRG 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | synrg 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | synrg 30 |
|
- Species where no ortholog for SYNRG 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)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for SYNRG Gene
- ENSEMBL:
- Gene Tree for SYNRG (if available)
- TreeFam:
- Gene Tree for SYNRG (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SYNRG: view image
Paralogs for SYNRG Gene
No data available for Paralogs for SYNRG Gene
Variants for SYNRG Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNRG Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 872716 | Uncertain Significance: not provided | 37,520,174(-) |
C/T NM_007247.6(SYNRG):c.3813+5G>A |
INTRON | |
| 872717 | Uncertain Significance: not provided | 37,542,361(-) |
T/C NM_007247.6(SYNRG):c.2813A>G (p.Asn938Ser) |
MISSENSE | |
| rs12602536 | - |
p.Thr222Ala |
|||
| rs12944821 | - |
p.Ala40Gly |
|||
| rs370465279 | - |
p.Arg1183His |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2657174 | CNV | deletion | 23128226 |
| esv3307133 | CNV | mobile element insertion | 20981092 |
| esv3310127 | CNV | mobile element insertion | 20981092 |
| esv3373858 | CNV | insertion | 20981092 |
| esv3374090 | CNV | insertion | 20981092 |
| esv3399729 | CNV | insertion | 20981092 |
| esv3640494 | CNV | gain | 21293372 |
| esv3640500 | CNV | loss | 21293372 |
| nsv827979 | CNV | loss | 20364138 |
| nsv833431 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.83;
89.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SYNRG Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SYNRG
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNRG Gene
Disorders for SYNRG Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 84a |
|
|
| chromosome 17q12 deletion syndrome |
|
|
| meningococcal meningitis |
|
|
Search SYNRG in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SYNRG
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SYNRG Gene
Publications for SYNRG Gene
- EpsinR: an AP1/clathrin interacting protein involved in vesicle trafficking. (PMID: 12538641) Mills IG … McMahon HT (The Journal of cell biology 2003) 3 4 23
- Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. (PMID: 10477754) Page LJ … Robinson MS (The Journal of cell biology 1999) 2 3 4
- Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells. (PMID: 18815278) Lui-Roberts WW … Cutler DF (Molecular biology of the cell 2008) 3 23
- The aftiphilin/p200/gamma-synergin complex. (PMID: 15758025) Hirst J … Robinson MS (Molecular biology of the cell 2005) 3 23
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
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Sources for SYNRG Gene
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