Gene Gene information from NCBI Gene database.
Entrez ID 152579
Gene name Sec1 family domain containing 2
Gene symbol SCFD2
Synonyms (NCBI Gene)
STXBP1L1
Chromosome 4
Chromosome location 4q12
miRNA miRNA information provided by mirtarbase database.
21
miRTarBase ID miRNA Experiments Reference
MIRT1329307 hsa-miR-4778-3p CLIP-seq
MIRT2321886 hsa-miR-3120-3p CLIP-seq
MIRT2618305 hsa-miR-122 CLIP-seq
MIRT2618306 hsa-miR-3198 CLIP-seq
MIRT2618307 hsa-miR-323b-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0006886 Process Intracellular protein transport IBA
GO:0015031 Process Protein transport IEA
GO:0016192 Process Vesicle-mediated transport IBA
GO:0016192 Process Vesicle-mediated transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WU76
Protein name Sec1 family domain-containing protein 2 (Syntaxin-binding protein 1-like 1)
Protein function May be involved in protein transport.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00995 Sec1 316 668 Sec1 family Family
Sequence
MSASGVLSFTQQGWEQVLAKVKRAVVYLDAACAESLHWGCGSTRLLEAVGGPDCHLREFE
PDAIGGGAKQPKAVFVLSCLLKGRTVEILRDIICRSHFQYCVVVTTVSHAVHLTANHVPA
AAAAEMEGQQPVFEQLEEKLCEWMGNMNYTAEVFHVPLLLAPVAPHFALTPAFASLFPLL
PQDVHLLNSARPDKRKLGSLGDVDSTTLTPELLLQIRCLVSGLSSLCEHLGVREECFAVG
SLSQVIAADLANYAPAKNRKKTAAGRASVVFVDRTLDLTGAVGHHGDNLVEKIISALPQL
PGHTNDVMVNMIALTALHTEEENYNVVAPGCLSQSSDTTAKALWEALLNTKHKEAVMEVR
RHLVEAASRENLPIKMSMGRVTPGQLMSYIQLFKNNLKALMNHCGLLQLGLATAQTLKHP
QTAKWDNFLAFERLLLQSIGESAMSVVLNQLLPMIKPVTQRTNEDYSPEELLILLIYIYS
VTGELTVDKDLCEAEEKVKKALAQVFCEESGLSPLLQKITDWDSSINLTFHKSKIAVDEL
FTSLRDIAGARSLLKQFKSVYVPGNHTHQASYKPLLKQVVEEIFHPERPDSVDIEHMSSG
LTDLLKTGFSMFMKVSRPHPSDYPLLILFVVGGVTVSEVKMVKDLVASLKPGTQVIVLST
RLLKPLNI
PELLFATDRLHPDLGF
Sequence length 684
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism, susceptiblity to Likely pathogenic rs192499281 RCV003313024
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35681031