Ofd1
Gene Detail

Symbol Name ID

Ofd1 oral-facial-digital syndrome 1 gene homolog (human) MGI:1350328

Synonyms

DXGgc7e, ORF2

Feature Type

protein coding gene

Genetic Map

Chromosome X

77.28 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

ChrX:166390033-166440704 bp, - strand From VEGA annotation of GRCm38   50672 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2677  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ofd1

Human homologs

Human Homolog		OFD1, oral-facial-digital syndrome 1
NCBI Gene ID		8481
neXtProt AC		NX_O75665
Human Synonyms		71-7A, CXorf5, JBTS10, RP23, SGBS2
Human Chr (Location)		Xp22; chrX:13752832-13787480 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human OFD1

Alleles and phenotypes

All alleles(10) : Targeted(6) Gene trapped(4)
 

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.

 
Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	cell projection organization, cilium axoneme assembly, ...
Component	cell projection, centriole, ...
Function	alpha-tubulin binding, gamma-tubulin binding

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (72)    Tissues (64)    Images (4)
Theiler Stages: 20, 21, 22, 24, 26, 28

Assay Type	Results
RNA in situ	70
RT-PCR	2

cDNA source data(29)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000019549 (Evidence)
Ensembl Gene Model	ENSMUSG00000040586 (Evidence)
Entrez Gene	237222 (Evidence)
UniGene	247480
DFCI	TC1581213, TC1709340
NIA Mouse Gene Index	U039862
Consensus CDS Project	CCDS53248.1
International Mouse Knockout Project Status	Ofd1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019549	VEGA Gene Model | MGI Sequence Detail	50672	C57BL/6J
transcript	OTTMUST00000046686	VEGA | MGI Sequence Detail	4453	Not Applicable
polypeptide	OTTMUSP00000021090	VEGA | MGI Sequence Detail	1019	Not Applicable

All sequences(27) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(180 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006594	LisH dimerisation motif
Protein Ontology	PR:000011611	oral-facial-digital syndrome 1 protein

References

(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:195725 D'Angelo A, et al., Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development. PLoS One. 2012;7(12):e52937
All references(40)

Other accession IDs

MGI:1096319