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Sptan1 Gene Detail
Summary
  • Symbol
    Sptan1
  • Name
    spectrin alpha, non-erythrocytic 1
  • Synonyms
    2610027H02Rik, alpha-fodrin, alphaII-spectrin, Spna-2, Spna2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98386
    NCBI Gene: 20740
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:29855572-29921463 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 20.93 cM, cytoband B
  • Mapping Data
    29 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1232 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98386
 protein coding gene Chr2:29855572-29921463 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025549
 protein coding gene Chr2:28152212-28225341 (+)
A/J MGP_AJ_G0025527
 protein coding gene Chr2:27039899-27106372 (+)
AKR/J MGP_AKRJ_G0025496
 protein coding gene Chr2:27962440-28028886 (+)
BALB/cJ MGP_BALBcJ_G0025522
 protein coding gene Chr2:27171060-27236741 (+)
C3H/HeJ MGP_C3HHeJ_G0025284
 protein coding gene Chr2:27886927-27955504 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025967
 protein coding gene Chr2:29055677-29131401 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023376
 protein coding gene Chr2:25832550-25901932 (+)
CAST/EiJ MGP_CASTEiJ_G0024747
 protein coding gene Chr2:27774287-27840399 (+)
CBA/J MGP_CBAJ_G0025261
 protein coding gene Chr2:30065944-30133879 (+)
DBA/2J MGP_DBA2J_G0025394
 protein coding gene Chr2:26835497-26901365 (+)
FVB/NJ MGP_FVBNJ_G0025357
 protein coding gene Chr2:26640612-26707745 (+)
LP/J MGP_LPJ_G0025480
 protein coding gene Chr2:28069788-28139706 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025387
 protein coding gene Chr2:29990202-30057459 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026026
 protein coding gene Chr2:27879047-27950031 (+)
PWK/PhJ MGP_PWKPhJ_G0024493
 protein coding gene Chr2:26664705-26731884 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024293
 protein coding gene Chr2:27955547-28022907 (+)
WSB/EiJ MGP_WSBEiJ_G0024815
 protein coding gene Chr2:27994606-28062982 (+)



Homology
more
  • Human Ortholog
    SPTAN1, spectrin alpha, non-erythrocytic 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPTAN1, spectrin alpha, non-erythrocytic 1
  • Synonyms
    DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2
  • Links
    NCBI Gene ID: 6709
    neXtProt AC: NX_Q13813
    UniProt: Q13813

  • Chr Location
    9q34.11; chr9:128552558-128633662 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human SPTAN1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 3 alleles in 4 genetic backgrounds
    18 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.
Homozygous deletion of the exons encoding the CCC region are normal. Mice homozygous for a gene trap allele exhibit embryonic lethality and abnormal nervous system, heart and craniofacial morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    15
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
    884
  • Tissues
    34
  • cDNA Data
    430
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20740 NCBI Gene Model | MGI Sequence Detail 65892 C57BL/6J ±  kb
    transcript NM_001309460 RefSeq | MGI Sequence Detail 8102 ZRU/MplStud  
    polypeptide P16546 UniProt | EBI | MGI Sequence Detail 2472 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 434
      cDNA 433
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14536, MGD-MRK-14538, MGI:1923606
    References
    more
    • Summaries
      All 118
      Developmental Gene Expression 23
      Gene Ontology 15
      Phenotypes 18
    • Earliest
      J:32042 Birkenmeier CS, et al., Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5671-5
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory