1. Gene
  2. OSR2 - odd-skipped related transciption factor 2 Gene

OSR2 - odd-skipped related transciption factor 2 Gene

Homo sapiens
Gene ID: 116039 | Gene type: protein coding

About OSR2

Cytogenetic location: 8q22.2 Genomic coordinates (GRCh38): 8:98,944,442-98,952,100 (from NCBI)

This gene has 10 transcripts (splice variants), 197 orthologues and 1 paralogue. Biased expression in endometrium (RPKM 68.5), ovary (RPKM 33.5) and 8 other tissues.

Summary

OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]

OSR2 Products(4)

mRNA Protein Name
NM_001142462.3 NP_001135934.1 protein odd-skipped-related 2 isoform a
NM_001286841.2 NP_001273770.1 protein odd-skipped-related 2 isoform c
NM_001394683.1 NP_001381612.1 protein odd-skipped-related 2 isoform d
NM_053001.4 NP_443727.2 protein odd-skipped-related 2 isoform b
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OSR2 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (186 - 210)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (214 - 237)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (256 - 278)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (284 - 306)

  • 0
  • 100
  • 200
  • 312 a.a.
Protein Preferred Names Protein Names

protein odd-skipped-related 2

odd-skipped related 2

Related Diseases

Diseases Alias
Cleft Soft Palate

Cleft Velum

Cleft Velum Palatinum

Soft Cleft Palate

Soft Palate Perforation

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome

BPES

Blepharophimosis Syndrome

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Bpes With Duane Retraction Syndrome

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2

Bpes Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus

3q23 Microdeletion Syndrome

Bpes Plus

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1

Bpes Type 1

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure

Blepharophimosis, Ptosis, Epicanthus Inversus

Autosomal Dominant Bpes Type I

Autosomal Recessive Bpes Type I

Bpes Type I

Bpes Type Ii

Bpes Without Ovarian Failure

Bpes With Ovarian Failure

Blepharophimosis Syndrome Type 1

Blepharophimosis Syndrome Type 2

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Peptic Ulcer Perforation

Perforated Peptic Ulcer

Acute Peptic Ulcer With Perforation

Peptic Ulcer With Perforation

Cleft Palate With Or Without Ankyloglossia, X-Linked

Cleft Palate With Ankyloglossia

CPX

X-Linked Cleft Palate And Ankyloglossia

X-Linked Cleft Palate With Or Without Ankyloglossia

X-Linked Cleft Palate

X-Linked Cleft Palate With Ankyloglossia

Cleft Palate, With/Without Ankyloglossia, X-Linked

Orofacial Cleft

Cleft, Orofacial

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta OSR2 VGNC VGNC:84097
Rattus norvegicus OSR2 RGD RGD:1305812
Canis familiaris OSR2 VGNC VGNC:44169
Bos taurus OSR2 VGNC VGNC:32477
Felis catus OSR2 VGNC VGNC:63990
Mus musculus OSR2 MGD MGI:1930813