SCFD2 (sec1 family domain containing 2)

Gene

• Entrez ID: 152579
• Gene name: Sec1 family domain containing 2
• Gene symbol: SCFD2
• Synonyms (NCBI Gene): STXBP1L1
• Chromosome: 4
• Chromosome location: 4q12

miRNA

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
MIRT2618308	hsa-miR-4309	CLIP-seq
MIRT2618309	hsa-miR-4752	CLIP-seq
MIRT2618310	hsa-miR-496	CLIP-seq
MIRT2618311	hsa-miR-548ae	CLIP-seq
MIRT2618312	hsa-miR-548aj	CLIP-seq
MIRT2618313	hsa-miR-548am	CLIP-seq
MIRT2618314	hsa-miR-548x	CLIP-seq
MIRT2618315	hsa-miR-765	CLIP-seq
MIRT2618316	hsa-miR-873	CLIP-seq
MIRT2618305	hsa-miR-122	CLIP-seq
MIRT2618306	hsa-miR-3198	CLIP-seq
MIRT2618307	hsa-miR-323b-5p	CLIP-seq
MIRT2618308	hsa-miR-4309	CLIP-seq
MIRT2618309	hsa-miR-4752	CLIP-seq
MIRT2618310	hsa-miR-496	CLIP-seq
MIRT2618315	hsa-miR-765	CLIP-seq

Gene ontology (GO)

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

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism, susceptiblity to	Likely pathogenic	rs192499281	RCV003313024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	35681031	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	21685187		★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	30194396		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★☆☆☆☆ Found in Text Mining only
Sleep Initiation and Maintenance Disorders	Sleep Disorders	GWASCAT_DG	28604731		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	30194396		★☆☆☆☆ Found in Text Mining only