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Chml Gene Detail
Summary
  • Symbol
    Chml
  • Name
    choroideremia-like
  • Synonyms
    E030003F13Rik, Rep2
Location &
Maps
more
  • Sequence Map
    Chr1:175509803-175520198 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 81.70 cM, cytoband H5-H6
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    321 from dbSNP Build 142
  • Strain Annotations
    20
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101913
 protein coding gene Chr1:175509803-175520467 (-)
129S1/SvImJ ENSMUSG00200021975
 protein coding gene Chr1:173267616-173278023 (-)
A/J ENSMUSGG00195055131
 protein coding gene Chr1:172685921-172687005 (-)
A/J ENSMUSG00195041999
 protein coding gene Chr1:172681802-172692194 (-)
AKR/J ENSMUSG00220030022
 protein coding gene Chr1:172266424-172276817 (-)
AKR/J ENSMUSGG00220054514
 protein coding gene Chr1:172270543-172271627 (-)
BALB/cJ ENSMUSG00180042883
 protein coding gene Chr1:172918525-172928932 (-)
C3H/HeJ ENSMUSG00175039690
 protein coding gene Chr1:173094694-173105100 (-)
C57BL/6NJ ENSMUSG00215042705
 protein coding gene Chr1:172470600-172480993 (-)
C57BL/6NJ ENSMUSGG00215055368
 protein coding gene Chr1:172474719-172475803 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014946
 protein coding gene Chr1:165774315-165780419 (-)
CAST/EiJ no annotation
CBA/J ENSMUSG00210039233
 protein coding gene Chr1:172727853-172738246 (-)
CBA/J ENSMUSGG00210054716
 protein coding gene Chr1:172731972-172733056 (-)
DBA/2J ENSMUSG00185028333
 protein coding gene Chr1:177340632-177351025 (-)
DBA/2J ENSMUSGG00185057468
 protein coding gene Chr1:177344751-177345835 (-)
FVB/NJ ENSMUSG00205026812
 protein coding gene Chr1:171843934-171854329 (-)
FVB/NJ ENSMUSGG00205054101
 protein coding gene Chr1:171848054-171849138 (-)
JF1/MsJ no annotation
LP/J ENSMUSG00230031316
 protein coding gene Chr1:176933770-176944176 (-)
NOD/ShiLtJ ENSMUSG00190029780
 protein coding gene Chr1:172769256-172779662 (-)
NZO/HlLtJ ENSMUSG00225004051
 protein coding gene Chr1:180514996-180521668 (-)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    CHML, CHM like Rab escort protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHML, CHM like Rab escort protein
  • Synonyms
    REP2
  • Links
    NCBI Gene ID: 1122
    UniProt: P26374

  • Chr Location
    1q43; chr1:241628851-241640369 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CHML associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    5
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
    609
  • Tissues
    6
  • cDNA Data
    8
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 12663 NCBI Gene Model | MGI Sequence Detail 10396 C57BL/6J ±  kb
transcript NM_021350 RefSeq | MGI Sequence Detail 6907 ZRU/MplStud  
polypeptide Q9QZD5 UniProt | EBI | MGI Sequence Detail 621 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    Genomic 1
    cDNA 9

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-18742, MGI:2138252
References
more
  • Summaries
    All 38
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 4
  • Earliest
    J:16347 Cremers FP, et al., An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Hum Mol Genet. 1992 May;1(2):71-5
  • Latest
    J:366524 Xing Z, et al., Genetic Analysis of Choroideremia-Related Rab Escort Proteins. Int J Mol Sci. 2025 Apr 11;26(8)
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
09/08/2026
MGI 6.24 		The Jackson Laboratory