|  Help  |  About  |  Contact Us

Protein Coding Gene : Sptbn4 spectrin beta, non-erythrocytic 4
Primary Identifier  MGI:1890574 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  80297
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables actin binding activity and spectrin binding activity. Involved in protein localization. Acts upstream of or within several processes, including adult walking behavior; neuron development; and regulation of heart contraction. Located in axon; cell body fiber; and intercalated disc. Is active in juxtaparanode region of axon and node of Ranvier. Is expressed in several structures, including liver; neural ectoderm; optic vesicle; spinal cord lateral wall; and spleen. Orthologous to human SPTBN4 (spectrin beta, non-erythrocytic 4).
PHENOTYPE: Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. [provided by MGI curators]
  • synonyms:
  • neuroaxonal dystrophy,
  • nmf379,
  • lnd,
  • neuroscience mutagenesis facility, 261,
  • MGI:97840,
  • MGI:3514294,
  • MGD-MRK-11840,
  • RIKEN cDNA 5830426A08 gene,
  • 5830426A08Rik,
  • nmf261,
  • SpbIV,
  • quivering,
  • neuroscience mutagenesis facility, 379,
  • dyn,
  • Sptbn4,
  • MGI:1922798,
  • ROSA62,
  • MGD-MRK-9265,
  • MGI:3589010,
  • MGD-MRK-13741,
  • spectrin beta 4,
  • MGI:1923290,
  • RIKEN cDNA 1700022P15 gene,
  • spectrin beta, non-erythrocytic 4,
  • Spnb4,
  • qv,
  • 1700022P15Rik,
  • lumbosacral neuroaxonal dystrophy
Paste the following link
Lists
This ProteinCodingGene isn't in any lists. Upload a list.

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

Trail: ProteinCodingGene

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

18 Pathways

Trail: ProteinCodingGene

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom