Gene Gene information from NCBI Gene database.
Entrez ID 26984
Gene name SEC22 homolog A, vesicle trafficking protein
Gene symbol SEC22A
Synonyms (NCBI Gene)
SEC22L2
Chromosome 3
Chromosome location 3q21.1
Summary The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]
miRNA miRNA information provided by mirtarbase database.
259
miRTarBase ID miRNA Experiments Reference
MIRT029213 hsa-miR-26b-5p Microarray 19088304
MIRT1332502 hsa-miR-124 CLIP-seq
MIRT1332503 hsa-miR-1245 CLIP-seq
MIRT1332504 hsa-miR-1254 CLIP-seq
MIRT1332505 hsa-miR-1267 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005484 Function SNAP receptor activity ISS
GO:0005515 Function Protein binding IPI 21516116, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612442 20260 ENSG00000121542
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96IW7
Protein name Vesicle-trafficking protein SEC22a (SEC22 vesicle-trafficking protein homolog A) (SEC22 vesicle-trafficking protein-like 2)
Protein function May be involved in vesicle transport between the ER and the Golgi complex.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13774 Longin 37 117 Regulated-SNARE-like domain Domain
Sequence
MSMILSASVIRVRDGLPLSASTDYEQSTGMQECRKYFKMLSRKLAQLPDRCTLKTGHYNI
NFISSLGVSYMMLCTENYPNVLAFSFLDELQKEFITTYNMMKTNTAVRPYCFIEFDN
FIQ
RTKQRYNNPRSLSTKINLSDMQTEIKLRPPYQISMCELGSANGVTSAFSVDCKGAGKISS
AHQRLEPATLSGIVGFILSLLCGALNLIRGFHAIESLLQSDGDDFNYIIAFFLGTAACLY
QCYLLVYYTGWRNVKSFLTFGLICLCNMYLYELRNLWQLFFHVTVGAFVTLQIWLRQAQG
KAPDYDV
Sequence length 307
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Parkinson Disease Parkinson disease BEFREE 30579794
★☆☆☆☆
Found in Text Mining only