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Scfd2 Sec1 family domain containing 2 [ Mus musculus (house mouse) ]

Gene ID: 212986, updated on 11-Apr-2024

Summary

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Official Symbol
Scfd2provided by MGI
Official Full Name
Sec1 family domain containing 2provided by MGI
Primary source
MGI:MGI:2443446
See related
Ensembl:ENSMUSG00000062110 AllianceGenome:MGI:2443446
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
STXBP1L1; E430013M20Rik
Summary
Predicted to enable syntaxin binding activity. Predicted to be involved in intracellular protein transport and vesicle docking involved in exocytosis. Predicted to act upstream of or within protein transport. Predicted to be active in plasma membrane and secretory granule. Orthologous to human SCFD2 (sec1 family domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 2.3), genital fat pad adult (RPKM 2.1) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Scfd2 in Genome Data Viewer
Location:
5 C3.3; 5 39.44 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (74365477..74692436, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (74204816..74531742, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32002 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:74596657-74596859 Neighboring gene RAS-like, family 11, member B Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:74656347-74656530 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:74656616-74656725 Neighboring gene STARR-seq mESC enhancer starr_13406 Neighboring gene predicted gene, 32064 Neighboring gene VISTA enhancer mm139 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:74762842-74763025 Neighboring gene STARR-seq mESC enhancer starr_13407 Neighboring gene STARR-positive B cell enhancer ABC_E2746 Neighboring gene STARR-positive B cell enhancer ABC_E6339 Neighboring gene factor interacting with PAPOLA and CPSF1 Neighboring gene ligand of numb-protein X 1 Neighboring gene predicted gene, 32304

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
  2. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
  3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
  5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

General gene information

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Markers

Homology

Clone Names

  • 9330137G15

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
sec1 family domain-containing protein 2
Names
neuronal Sec1
syntaxin-binding protein 1-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001114660.2 → NP_001108132.1  sec1 family domain-containing protein 2 isoform a

    See identical proteins and their annotated locations for NP_001108132.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (a) encodes the longest isoform (a).
    Source sequence(s)
    AC115823, AI850693, AK140246
    Consensus CDS
    CCDS51519.1
    UniProtKB/Swiss-Prot
    Q3USN5, Q8BFV9, Q8BKU5, Q8BKZ0, Q8BTP6, Q8BTQ9, Q8BTY8, Q8BXI1, Q8BXS0, Q8BZ58
    UniProtKB/TrEMBL
    Q3UPD0
    Related
    ENSMUSP00000072636.7, ENSMUST00000072857.13
    Conserved Domains (1) summary
    cl15415
    Location:625 → 665
    Sec1; Sec1 family

  2. NM_001286437.1 → NP_001273366.1  sec1 family domain-containing protein 2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (c) lacks an alternate in-frame exon in the 3' coding region, compared to variant a. It encodes isoform c, which is shorter than isoform a.
    Source sequence(s)
    AC115823, AI850693, AK135666, AK140246
    Consensus CDS
    CCDS71603.1
    UniProtKB/TrEMBL
    Q3UPD0
    Related
    ENSMUSP00000109170.3, ENSMUST00000113542.9

  3. NM_178672.7 → NP_848787.2  sec1 family domain-containing protein 2 isoform b

    See identical proteins and their annotated locations for NP_848787.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (b) lacks several exons and includes an alternate 3' terminal exon, compared to variant a. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK034000, AK140246, AK163028
    Consensus CDS
    CCDS19345.1
    UniProtKB/TrEMBL
    Q3TR67
    Related
    ENSMUSP00000121098.2, ENSMUST00000151474.3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    74365477..74692436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164982.1 → XP_036020875.1  sec1 family domain-containing protein 2 isoform X1

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BTY8.1 GenPept UniProtKB/Swiss-Prot:Q8BTY8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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