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Reep6 Gene Detail
Summary
  • Symbol
    Reep6
  • Name
    receptor accessory protein 6
  • Synonyms
    Dp1l1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917585
    NCBI Gene: 70335
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:80165831-80172275 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    169 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917585
 protein coding gene Chr10:80165787-80172275 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017497
 protein coding gene Chr10:80930718-80937201 (+)
A/J MGP_AJ_G0017475
 protein coding gene Chr10:78096270-78103139 (+)
AKR/J MGP_AKRJ_G0017436
 protein coding gene Chr10:80233155-80239643 (+)
BALB/cJ MGP_BALBcJ_G0017437
 protein coding gene Chr10:78325861-78332349 (+)
C3H/HeJ MGP_C3HHeJ_G0017260
 protein coding gene Chr10:80327532-80334020 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017891
 protein coding gene Chr10:83733776-83740265 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015579
 protein coding gene Chr10:74317025-74323609 (+)
CAST/EiJ MGP_CASTEiJ_G0016827
 protein coding gene Chr10:80534619-80541087 (+)
CBA/J MGP_CBAJ_G0017232
 protein coding gene Chr10:86966984-86973472 (+)
DBA/2J MGP_DBA2J_G0017338
 protein coding gene Chr10:77314607-77321104 (+)
FVB/NJ MGP_FVBNJ_G0017332
 protein coding gene Chr10:76505679-76512166 (+)
LP/J MGP_LPJ_G0017409
 protein coding gene Chr10:81400841-81407329 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017358
 protein coding gene Chr10:88906282-88913650 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017932
 protein coding gene Chr10:80220816-80227304 (+)
PWK/PhJ MGP_PWKPhJ_G0016608
 protein coding gene Chr10:77185158-77191636 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016397
 protein coding gene Chr10:79193624-79200077 (+)
WSB/EiJ MGP_WSBEiJ_G0016887
 protein coding gene Chr10:80253821-80260307 (+)



Homology
more
  • Human Ortholog
    REEP6, receptor accessory protein 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    REEP6, receptor accessory protein 6
  • Synonyms
    C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB1, TB2L1, Yip2f
  • Links
    NCBI Gene ID: 92840
    neXtProt AC: NX_Q96HR9
    UniProt: Q96HR9

  • Chr Location
    19p13.3; chr19:1491166-1497927 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Reep6 mouse models; 1 with human REEP6 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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 null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    7
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
    798
  • Tissues
    25
  • cDNA Data
    108
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 70335 NCBI Gene Model | MGI Sequence Detail 6445 C57BL/6J ±  kb
    transcript NM_139292 RefSeq | MGI Sequence Detail 2036 C57BL/6  
    polypeptide Q9JM62 UniProt | EBI | MGI Sequence Detail 201 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR004345 TB2/DP1/HVA22-related protein
    • GlyGen
      Q9JM62 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 113
      cDNA 109
      Primer pair 4

      Microarray probesets 2
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 7
      Phenotypes 14
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:322326 Liang Q, et al., Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021 Oct 13;30(21):1907-1918
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory