OSR1 (odd-skipped related transcription factor 1)

Gene

• Entrez ID: 130497
• Gene name: Odd-skipped related transcription factor 1
• Gene symbol: OSR1
• Synonyms (NCBI Gene): ODD
• Chromosome: 2
• Chromosome location: 2p24.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028100	hsa-miR-93-5p	Sequencing	20371350
MIRT031058	hsa-miR-21-5p	Microarray	18591254
MIRT438842	hsa-miR-451a	qRT-PCR	23294929
MIRT438839	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT438842	hsa-miR-451a	qRT-PCR	23294929
MIRT438839	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT1206882	hsa-miR-1270	CLIP-seq
MIRT1206883	hsa-miR-185	CLIP-seq
MIRT1206884	hsa-miR-3163	CLIP-seq
MIRT1206885	hsa-miR-3190	CLIP-seq
MIRT1206886	hsa-miR-3202	CLIP-seq
MIRT1206887	hsa-miR-409-3p	CLIP-seq
MIRT1206888	hsa-miR-4306	CLIP-seq
MIRT1206889	hsa-miR-4531	CLIP-seq
MIRT1206890	hsa-miR-4533	CLIP-seq
MIRT1206891	hsa-miR-4644	CLIP-seq
MIRT1206892	hsa-miR-4781-3p	CLIP-seq
MIRT1206893	hsa-miR-620	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001655	Process	Urogenital system development	IBA
GO:0001655	Process	Urogenital system development	IEA
GO:0001655	Process	Urogenital system development	ISS
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001657	Process	Ureteric bud development	ISS
GO:0001823	Process	Mesonephros development	IEA
GO:0001823	Process	Mesonephros development	ISS
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005938	Component	Cell cortex	ISS
GO:0007389	Process	Pattern specification process	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0008406	Process	Gonad development	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	ISS
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0030857	Process	Negative regulation of epithelial cell differentiation	ISS
GO:0034763	Process	Negative regulation of transmembrane transport	IDA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	ISS
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0036023	Process	Embryonic skeletal limb joint morphogenesis	IEA
GO:0036023	Process	Embryonic skeletal limb joint morphogenesis	ISS
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	ISS
GO:0042476	Process	Odontogenesis	IEA
GO:0042476	Process	Odontogenesis	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048389	Process	Intermediate mesoderm development	IEA
GO:0048793	Process	Pronephros development	IBA
GO:0048793	Process	Pronephros development	IMP	21281489
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	ISS
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	ISS
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0072075	Process	Metanephric mesenchyme development	IEA
GO:0072075	Process	Metanephric mesenchyme development	ISS
GO:0072111	Process	Cell proliferation involved in kidney development	IEA
GO:0072111	Process	Cell proliferation involved in kidney development	ISS
GO:0072133	Process	Metanephric mesenchyme morphogenesis	IEA
GO:0072133	Process	Metanephric mesenchyme morphogenesis	ISS
GO:0072143	Process	Mesangial cell development	IEA
GO:0072143	Process	Mesangial cell development	ISS
GO:0072162	Process	Metanephric mesenchymal cell differentiation	IEA
GO:0072162	Process	Metanephric mesenchymal cell differentiation	ISS
GO:0072166	Process	Posterior mesonephric tubule development	IEA
GO:0072166	Process	Posterior mesonephric tubule development	ISS
GO:0072168	Process	Specification of anterior mesonephric tubule identity	IEA
GO:0072168	Process	Specification of anterior mesonephric tubule identity	ISS
GO:0072169	Process	Specification of posterior mesonephric tubule identity	IEA
GO:0072169	Process	Specification of posterior mesonephric tubule identity	ISS
GO:0072180	Process	Mesonephric duct morphogenesis	IEA
GO:0072180	Process	Mesonephric duct morphogenesis	ISS
GO:0072183	Process	Negative regulation of nephron tubule epithelial cell differentiation	IEA
GO:0072183	Process	Negative regulation of nephron tubule epithelial cell differentiation	ISS
GO:0072184	Process	Renal vesicle progenitor cell differentiation	IEA
GO:0072184	Process	Renal vesicle progenitor cell differentiation	ISS
GO:0072190	Process	Ureter urothelium development	IEA
GO:0072190	Process	Ureter urothelium development	ISS
GO:0072207	Process	Metanephric epithelium development	IEA
GO:0072207	Process	Metanephric epithelium development	ISS
GO:0072208	Process	Metanephric smooth muscle tissue development	IEA
GO:0072208	Process	Metanephric smooth muscle tissue development	ISS
GO:0072234	Process	Metanephric nephron tubule development	IEA
GO:0072234	Process	Metanephric nephron tubule development	ISS
GO:0072239	Process	Metanephric glomerulus vasculature development	IEA
GO:0072239	Process	Metanephric glomerulus vasculature development	ISS
GO:0072259	Process	Metanephric interstitial fibroblast development	IEA
GO:0072259	Process	Metanephric interstitial fibroblast development	ISS
GO:0072268	Process	Pattern specification involved in metanephros development	IEA
GO:0072268	Process	Pattern specification involved in metanephros development	ISS
GO:0072498	Process	Embryonic skeletal joint development	IEA
GO:0072498	Process	Embryonic skeletal joint development	ISS
GO:0090094	Process	Metanephric cap mesenchymal cell proliferation involved in metanephros development	IEA
GO:0090094	Process	Metanephric cap mesenchymal cell proliferation involved in metanephros development	ISS
GO:0141110	Function	Transporter inhibitor activity	TAS
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	IDA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000543	Process	Positive regulation of gastrulation	IMP	21281489

Other IDs

• MIM: 608891
• HGNC: 8111
• e!Ensembl: ENSG00000143867

Protein

• UniProt ID: Q8TAX0
• Protein name: Protein odd-skipped-related 1
• Protein function: Transcription factor that plays a role in the regulation of embryonic heart and urogenital development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	175 → 197	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	203 → 225	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	231 → 253	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult colon, small intestine, prostate, testis, and fetal lung. {ECO:0000269|PubMed:12119563}.
• Sequence:

  MGSKTLPAPVPIHPSLQLTNYSFLQAVNGLPTVPSDHLPNLYGFSALHAVHLHQWTLGYP
  AMHLPRSSFSKVPGTVSSLVDARFQLPAFPWFPHVIQPKPEITAGGSVPALKTKPRFDFA
  NLALAATQEDPAKLGRGEGPGSPAGGLGALLDVTKLSPEKKPTRGRLPSKTKKEFVCKFC
  GRHFTKSYNLLIHERTHTDERPYTCDICHKAFRRQDHLRDHRYIHSKEKPFKCQECGKGF
  CQSRTLAVHKTLHSQVKELKTSKIKC

• Sequence length: 266

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27782156		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	9483336		★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	9483336		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30336382		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28527021, 28647007, 30336382		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30524907		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	BEFREE	16669787		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	29224173		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29224173		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	11883729, 28225747, 28437666, 28875352, 29254424, 29362929, 30336382, 30640748, 31533523, 31691449, 31750692, 9483336, 9583234		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29224173, 30680520		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29660200		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28404905	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22143938	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	23386621		★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	24488803		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	11140838, 28647007, 30538308, 30920279		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28404905, 30244004		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26744331		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28338919, 28647007		★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	BEFREE	28983797		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35836279	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive Behavior Disorder	Disruptive Behavior Disorder	BEFREE	24481934		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28254777		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12119563		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12119563		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	11883729, 30537668, 30920279, 9583234		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25822971		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	28724605		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24313290		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16083423, 16669787, 18843116, 28566208, 30328087, 31020807		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	35836279	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disorders	Learning Disorders	BEFREE	28527021, 28983797		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	30149291	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29029515		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29660200	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	31085334		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12119563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29660200		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26696369		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24931004		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29567393		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30524907		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28338919, 28647007		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29254424		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	30538308		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21821672, 24931004, 28404905, 30524907		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	24488803		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30524907		★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	28225747, 28262156, 28338919, 28983797, 29063614, 30336382, 9483336		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	31020807		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26696369		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21795710		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	16669787, 21927811, 24313290, 28414128		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28404905, 30244004		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22143938		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32155325	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30244004		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24931004		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24931004	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	28724605		★☆☆☆☆ Found in Text Mining only