Ofd1 (OFD1, centriole and centriolar satellite protein) - Rat Genome Database

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Gene: Ofd1 (OFD1, centriole and centriolar satellite protein) Mus musculus
Analyze
Symbol: Ofd1
Name: OFD1, centriole and centriolar satellite protein
RGD ID: 1558019
MGI Page MGI
Description: Enables alpha-tubulin binding activity and gamma-tubulin binding activity. Involved in several processes, including embryonic body morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; and negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation. Acts upstream of or within axoneme assembly. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including brain; forelimb; limb bud; reproductive system; and sensory organ. Used to study orofaciodigital syndrome I. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: centriole and centriolar satellite protein OFD1; Cxorf5; DXGgc7e; open reading frame 2; oral-facial-digital syndrome 1 gene homolog; oral-facial-digital syndrome 1 gene homolog (human); oral-facial-digital syndrome 1 protein homolog; ORF2
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: Gm13615  
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X165,171,503 - 165,223,704 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX165,173,029 - 165,223,700 (-)EnsemblGRCm39 Ensembl
GRCm38X166,386,573 - 166,440,704 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX166,390,033 - 166,440,704 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X162,827,965 - 162,878,636 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X161,735,041 - 161,784,660 (-)NCBIMGSCv36mm8
CeleraX149,569,705 - 149,620,495 (-)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX77.28NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Bisschoff IJ, etal., Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
2. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Budny B, etal., Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.
3. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Coene KL, etal., Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.
4. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. Diz P, etal., Oral Dis. 2011 Sep;17(6):610-4. doi: 10.1111/j.1601-0825.2011.01823.x. Epub 2011 Jul 6.
5. MGDs mouse GO annotations MGD data from the GO Consortium
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. Rakkolainen A, etal., J Med Genet. 2002 Apr;39(4):292-6.
8. Mouse MP Annotation Import Pipeline RGD automated import pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. Romero M, etal., Cleft Palate Craniofac J. 2007 Nov;44(6):660-6. doi: 10.1597/06-225.1.
12. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. Thauvin-Robinet C, etal., J Med Genet. 2006 Jan;43(1):54-61.
13. OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models. Wang J, etal., PLoS One. 2016 May 19;11(5):e0155860. doi: 10.1371/journal.pone.0155860. eCollection 2016.
14. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Webb TR, etal., Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.
Additional References at PubMed
PMID:8889548   PMID:9722947   PMID:10349636   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11179005   PMID:11217851   PMID:12466851   PMID:12477932   PMID:12520002   PMID:12782125  
PMID:14610273   PMID:15466260   PMID:15489334   PMID:16141072   PMID:16141073   PMID:16311594   PMID:16602821   PMID:17251353   PMID:18287559   PMID:19783798   PMID:20230748   PMID:20444807  
PMID:20843830   PMID:20873986   PMID:20920500   PMID:21677750   PMID:21873635   PMID:23300826   PMID:23537390   PMID:23806618   PMID:24089205   PMID:24469809   PMID:24691443   PMID:27591083  
PMID:28450740   PMID:29372668   PMID:29487109   PMID:31719045   PMID:32325033   PMID:37196079  


Genomics

Comparative Map Data
Ofd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X165,171,503 - 165,223,704 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX165,173,029 - 165,223,700 (-)EnsemblGRCm39 Ensembl
GRCm38X166,386,573 - 166,440,704 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX166,390,033 - 166,440,704 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X162,827,965 - 162,878,636 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X161,735,041 - 161,784,660 (-)NCBIMGSCv36mm8
CeleraX149,569,705 - 149,620,495 (-)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX77.28NCBI
OFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X13,714,505 - 13,773,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX13,734,743 - 13,777,955 (+)EnsemblGRCh38hg38GRCh38
GRCh37X13,752,867 - 13,787,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X13,662,801 - 13,697,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X13,512,536 - 13,547,127NCBI
CeleraX17,869,913 - 17,904,562 (+)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX11,510,937 - 11,544,940 (+)NCBIHuRef
CHM1_1X13,783,650 - 13,818,298 (+)NCBICHM1_1
T2T-CHM13v2.0X13,295,911 - 13,355,418 (+)NCBIT2T-CHM13v2.0
Ofd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X31,647,000 - 31,687,768 (+)NCBIGRCr8
mRatBN7.2X28,015,347 - 28,056,115 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX28,015,347 - 28,056,110 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX29,049,925 - 29,090,559 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X32,485,025 - 32,525,793 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X28,664,565 - 28,705,199 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X29,562,165 - 29,602,934 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX29,562,165 - 29,602,925 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X29,955,456 - 29,996,224 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X48,701,675 - 48,742,443 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX28,388,104 - 28,428,825 (+)NCBICelera
Cytogenetic MapXq13NCBI
Ofd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555194,433,855 - 4,471,070 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555194,433,747 - 4,470,842 (-)NCBIChiLan1.0ChiLan1.0
OFD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X15,468,675 - 15,552,455 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X15,472,486 - 15,552,078 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X6,296,597 - 6,376,197 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X13,630,006 - 13,669,285 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX13,611,304 - 13,664,512 (+)Ensemblpanpan1.1panPan2
OFD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X10,140,439 - 10,194,478 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX10,140,067 - 10,194,472 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX10,114,679 - 10,168,786 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X10,098,262 - 10,152,653 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX10,092,106 - 10,152,605 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X10,166,885 - 10,220,990 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X10,158,225 - 10,212,581 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X10,184,578 - 10,238,702 (+)NCBIUU_Cfam_GSD_1.0
Ofd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X3,292,935 - 3,331,915 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364703,292,249 - 3,331,800 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364703,292,961 - 3,331,915 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OFD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X10,361,403 - 10,415,502 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X11,314,606 - 11,369,244 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OFD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X12,222,396 - 12,256,802 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX12,222,760 - 12,256,557 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605614,039,780 - 14,076,648 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ofd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624882376,556 - 416,509 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624882376,447 - 417,066 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ofd1
1469 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:320
Count of miRNA genes:253
Interacting mature miRNAs:278
Transcripts:ENSMUST00000049501
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10401118Pgia39_mproteoglycan induced arthritis 39 (mouse)Not determinedX144474380169476592Mouse
1558900Bw3_mbody weight QTL 3 (mouse)Not determinedX133540040165298595Mouse
1302000Pgia25_mproteoglycan induced arthritis 2 (mouse)Not determinedX144474380169476592Mouse

Markers in Region
UniSTS:238109  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X166,406,025 - 166,406,233UniSTSGRCm38
MGSCv37X162,843,957 - 162,844,165UniSTSGRCm37
CeleraX149,585,718 - 149,585,926UniSTS
Cytogenetic MapXF5UniSTS
cM MapX72.0UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000049501   ⟹   ENSMUSP00000041744
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX165,173,029 - 165,223,700 (-)Ensembl
GRCm38.p6 EnsemblX166,390,033 - 166,440,704 (-)Ensembl
RefSeq Acc Id: NM_001423447   ⟹   NP_001410376
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X165,173,025 - 165,223,704 (-)NCBI
RefSeq Acc Id: NM_177429   ⟹   NP_803178
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X165,173,025 - 165,223,704 (-)NCBI
GRCm38X166,390,033 - 166,440,704 (-)NCBI
MGSCv37X162,827,965 - 162,878,636 (-)RGD
CeleraX149,569,705 - 149,620,495 (-)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006528839   ⟹   XP_006528902
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X165,171,565 - 165,223,692 (-)NCBI
GRCm38X166,386,573 - 166,440,644 (-)NCBI
Sequence:
RefSeq Acc Id: XM_036161946   ⟹   XP_036017839
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X165,171,565 - 165,209,989 (-)NCBI
Sequence:
RefSeq Acc Id: XM_036161947   ⟹   XP_036017840
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X165,171,565 - 165,209,989 (-)NCBI
Sequence:
RefSeq Acc Id: XR_004940336
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X165,171,503 - 165,223,692 (-)NCBI
Sequence:
RefSeq Acc Id: NP_803178   ⟸   NM_177429
- Peptide Label: isoform 1
- UniProtKB: Q80Z25 (UniProtKB/Swiss-Prot),   A2AEG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006528902   ⟸   XM_006528839
- Peptide Label: isoform X1
- UniProtKB: A2AEG2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000041744   ⟸   ENSMUST00000049501
RefSeq Acc Id: XP_036017840   ⟸   XM_036161947
- Peptide Label: isoform X3
RefSeq Acc Id: XP_036017839   ⟸   XM_036161946
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001410376   ⟸   NM_001423447
- Peptide Label: isoform 2
- UniProtKB: A2AEG2 (UniProtKB/TrEMBL)
Protein Domains
LisH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q80Z25-F1-model_v2 AlphaFold Q80Z25 1-1017 view protein structure

Promoters
RGD ID:6846049
Promoter ID:MM_KWN:62718
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_177429
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X162,878,221 - 162,879,617 (-)MPROMDB
RGD ID:13681838
Promoter ID:EPDNEW_M25068
Type:initiation region
Name:Ofd1_1
Description:Mus musculus OFD1, centriole and centriolar satellite protein, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X166,440,708 - 166,440,768EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1350328 AgrOrtholog
Ensembl Genes ENSMUSG00000040586 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000049501 ENTREZGENE
  ENSMUST00000049501.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OFD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:237222 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1350328 ENTREZGENE
NCBI Gene Ofd1 ENTREZGENE
PANTHER LISH DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORAL-FACIAL-DIGITAL SYNDROME 1 PROTEIN HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LisH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Ofd1 PhenoGen
PROSITE LISH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2AEG2 ENTREZGENE, UniProtKB/TrEMBL
  OFD1_MOUSE UniProtKB/Swiss-Prot
  Q3URP3_MOUSE UniProtKB/TrEMBL
  Q80Z25 ENTREZGENE
  Q99JH6_MOUSE UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-09-25 Ofd1  OFD1, centriole and centriolar satellite protein  Ofd1  oral-facial-digital syndrome 1 gene homolog (human)  Symbol and/or name change 5135510 APPROVED
2024-08-21 Ofd1  oral-facial-digital syndrome 1 gene homolog (human)  ORF2  open reading frame 2  Symbol and/or name change 5135510 APPROVED
2024-08-21 ORF2  open reading frame 2  Ofd1  OFD1, centriole and centriolar satellite protein  Symbol and/or name change 5135510 APPROVED
2017-03-21 Ofd1  OFD1, centriole and centriolar satellite protein    oral-facial-digital syndrome 1 gene homolog (human)  Symbol and/or name change 5135510 APPROVED