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Ofd1 Gene Detail
Summary
  • Symbol
    Ofd1
  • Name
    oral-facial-digital syndrome 1 gene homolog (human)
  • Synonyms
    DXGgc7e, ORF2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1350328
    NCBI Gene: 237222
  • Gene Overview
    MyGene.info: OFD1
Location & Maps
more
  • Sequence Map
    ChrX:166390033-166440704 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50672 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    OFD1, oral-facial-digital syndrome 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    OFD1, oral-facial-digital syndrome 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    71-7A, CXorf5, JBTS10, RP23, SGBS2
  • Links
    NCBI Gene ID: 8481
    neXtProt AC: NX_O75665

  • Chr Location
    Xp22; chrX:13715423-13771402 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 2677
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: OFD1
  • Gene Tree
Human Diseases
more
  • Diseases
    4 with human OFD1 associations

Human Disease Mouse Models
       Joubert Syndrome 10; JBTS10   OMIM: 300804
Orofaciodigital Syndrome I; OFD1   OMIM: 311200 View 2 models
Retinitis Pigmentosa 23; RP23   OMIM: 300424
Simpson-Golabi-Behmel Syndrome, Type 2; SGBS2   OMIM: 300209
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
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 2 genetic backgrounds
    23 phenotypes from multigenic genotypes
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Gene trapped
    4
  • Targeted
    6
  • Incidental Mutations
Hemizygous conditional deletion of this gene results in embryonic lethality during organogenesis, impaired left-right axis patterning, and malformation of Henson's node cells. Heterozygous conditional deletion of this gene results in neonatal lethality, cystic kidneys, polydactyly, and cleft palate.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019549 VEGA Gene Model | MGI Sequence Detail 50672 C57BL/6J ±  kb
transcript OTTMUST00000046686 VEGA | MGI Sequence Detail 4453 Not Applicable  
polypeptide OTTMUSP00000021090 VEGA | MGI Sequence Detail 1019 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    184 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000011611 oral-facial-digital syndrome 1 protein
  • InterPro Domains
    IPR006594 LIS1 homology motif
Molecular
Reagents
less
  • All nucleic 30
    cDNA 29
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1096319
References
more
  • Summaries
    All 42
    Developmental Gene Expression 7
    Diseases 1
    Gene Ontology 8
    Phenotypes 11
  • Earliest
    J:49565 de Conciliis L, et al., Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 1998 Jul 15;51(2):243-50
  • Latest
    J:212768 Liu YP, et al., Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest. 2014 May 1;124(5):2059-70

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory