SCFD2 (sec1 family domain containing 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152579
Gene name Gene Name - the full gene name approved by the HGNC.
Sec1 family domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCFD2
Synonyms (NCBI Gene) Gene synonyms aliases
STXBP1L1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
RLLKPLNIPELLFATDRLHPDLGF
Sequence length 684
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Cataract Cataract N/A N/A GWAS
Colorectal Cancer Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event) N/A N/A GWAS
Insomnia Insomnia in episodic migraine, Insomnia complaints N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35681031