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Scfd2 Gene Detail
Summary
  • Symbol
    Scfd2
  • Name
    Sec1 family domain containing 2
  • Synonyms
    E430013M20Rik, STXBP1L1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443446
    NCBI Gene: 212986
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:74365477-74692420 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 39.44 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    9093 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443446
 protein coding gene Chr5:74365477-74692436 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029632
 protein coding gene Chr5:74271904-74620306 (-)
A/J MGP_AJ_G0029600
 protein coding gene Chr5:71463022-71788202 (-)
AKR/J MGP_AKRJ_G0029548
 protein coding gene Chr5:73795225-74137414 (-)
BALB/cJ MGP_BALBcJ_G0029609
 protein coding gene Chr5:72175672-72500417 (-)
C3H/HeJ MGP_C3HHeJ_G0029332
 protein coding gene Chr5:74179077-74517576 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030063
 protein coding gene Chr5:77309154-77641513 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027303
 protein coding gene Chr5:67130243-67453575 (-)
CAST/EiJ MGP_CASTEiJ_G0028740
 protein coding gene Chr5:73274955-73610763 (-)
CBA/J MGP_CBAJ_G0029301
 protein coding gene Chr5:79830703-80217814 (-)
DBA/2J MGP_DBA2J_G0029446
 protein coding gene Chr5:71532843-71867771 (-)
FVB/NJ MGP_FVBNJ_G0029407
 protein coding gene Chr5:70687666-71021129 (-)
LP/J MGP_LPJ_G0029532
 protein coding gene Chr5:74700604-75054977 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029434
 protein coding gene Chr5:83095744-83443561 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030096
 protein coding gene Chr5:73326872-73659060 (-)
PWK/PhJ MGP_PWKPhJ_G0028463
 protein coding gene Chr5:70513240-70837772 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028298
 protein coding gene Chr5:72681916-73016839 (-)
WSB/EiJ MGP_WSBEiJ_G0028820
 protein coding gene Chr5:73619380-73951653 (-)



Homology
more
  • Human Ortholog
    SCFD2, sec1 family domain containing 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SCFD2, sec1 family domain containing 2
  • Synonyms
    STXBP1L1
  • Links
    NCBI Gene ID: 152579
    neXtProt AC: NX_Q8WU76
    UniProt: Q8WU76

  • Chr Location
    4q12; chr4:52872982-53366066 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    363 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    4
  • GO References
    3
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000062110 Ensembl Gene Model | MGI Sequence Detail 326944 C57BL/6J ±  kb
    transcript ENSMUST00000072857 Ensembl | MGI Sequence Detail 3672 Not Applicable  
    polypeptide ENSMUSP00000072636 Ensembl | MGI Sequence Detail 684 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 18

      Microarray probesets 5
    References
    more
    • Summaries
      All 383
      Diseases 1
      Gene Ontology 3
      Phenotypes 363
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:353367 Taketomi Y, et al., Lipid-orchestrated paracrine circuit coordinates mast cell maturation and anaphylaxis through functional interaction with fibroblasts. Immunity. 2024 Aug 13;57(8):1828-1847.e11
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory