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Chml Gene Detail
Summary
  • Symbol
    Chml
  • Name
    choroideremia-like
  • Synonyms
    E030003F13Rik, Rep2
  • Feature Type
    protein coding gene
  • IDs
    MGI:101913
    NCBI Gene: 12663
  • Alliance
    gene page
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
    18
  • 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 MGP_129S1SvImJ_G0016839
 protein coding gene Chr1:181783728-181789835 (-)
A/J MGP_AJ_G0016818
 protein coding gene Chr1:174459873-174465989 (-)
AKR/J MGP_AKRJ_G0016784
 protein coding gene Chr1:179672518-179678634 (-)
BALB/cJ MGP_BALBcJ_G0016776
 protein coding gene Chr1:174993314-174999421 (-)
C3H/HeJ MGP_C3HHeJ_G0016601
 protein coding gene Chr1:180281481-180287588 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017241
 protein coding gene Chr1:187783895-187790011 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014946
 protein coding gene Chr1:165774315-165780419 (-)
CAST/EiJ MGP_CASTEiJ_G0016182
 protein coding gene Chr1:179651223-179661527 (-)
CBA/J MGP_CBAJ_G0016575
 protein coding gene Chr1:194637929-194644045 (-)
DBA/2J MGP_DBA2J_G0016680
 protein coding gene Chr1:173313339-173319567 (-)
FVB/NJ MGP_FVBNJ_G0016677
 protein coding gene Chr1:171438699-171444815 (-)
LP/J MGP_LPJ_G0016756
 protein coding gene Chr1:182977269-182983851 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016709
 protein coding gene Chr1:201879745-201886179 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017276
 protein coding gene Chr1:179446918-179453071 (-)
PWK/PhJ MGP_PWKPhJ_G0015969
 protein coding gene Chr1:172402941-172413255 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015746
 protein coding gene Chr1:178483087-178489169 (-)
WSB/EiJ MGP_WSBEiJ_G0016244
 protein coding gene Chr1:179642714-179652858 (-)



Homology
more
  • Human Ortholog
    CHML, CHM like Rab escort protein
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHML, CHM like Rab escort protein
  • Synonyms
    REP2
  • Links
    NCBI Gene ID: 1122
    neXtProt AC: NX_P26374
    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
    2 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    6
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
    718
  • 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
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000005431 Rab proteins geranylgeranyltransferase component A 2
    (term hierarchy)
  • InterPro Domains
    IPR036188 FAD/NAD(P)-binding domain superfamily
    IPR018203 GDP dissociation inhibitor
    IPR017452 GPCR, rhodopsin-like, 7TM
    IPR050125 G-protein coupled receptor opsins
    IPR000276 G protein-coupled receptor, rhodopsin-like
    IPR001738 Rab protein geranylgeranyltransferase component A
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 35
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 2
  • 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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
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