OSR2 odd-skipped related transciption factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSR2provided by HGNC
Official Full Name: odd-skipped related transciption factor 2provided by HGNC
Primary source: HGNC:HGNC:15830
See related: Ensembl:ENSG00000164920 MIM:611297; AllianceGenome:HGNC:15830
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in endometrium (RPKM 68.5), ovary (RPKM 33.5) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (98944442..98952100)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (100069165..100076821)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (99956670..99964328)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A comprehensive molecular characterization of the 8q22.2 region reveals the prognostic relevance of OSR2 mRNA in muscle invasive bladder cancer.
Title: A comprehensive molecular characterization of the 8q22.2 region reveals the prognostic relevance of OSR2 mRNA in muscle invasive bladder cancer.
Results found that OSR2, VAV3, and PPFIA3 were significantly hypermethylated in gastric cancer (GC) patients offering a good alternative in a simple, promising, and noninvasive detection of GC.
Title: Detection of OSR2, VAV3, and PPFIA3 Methylation in the Serum of Patients with Gastric Cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo development	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryo development ending in birth or egg hatching	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic digit morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic forelimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic hindlimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal joint development	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal joint morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal limb joint morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal system morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in eyelid development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in head development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesonephros development	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
involved_in middle ear morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in odontogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in roof of mouth development	ISS Inferred from Sequence or Structural Similarity more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in urogenital system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein odd-skipped-related 2

Names: odd-skipped related 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142462.3 → NP_001135934.1 protein odd-skipped-related 2 isoform a

See identical proteins and their annotated locations for NP_001135934.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (a) with a shorter N-terminus, compared to isoform c.

Source sequence(s)

AC016877, AK074518

Consensus CDS

CCDS47901.1

UniProtKB/Swiss-Prot

A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7

Related

ENSP00000297565.4, ENST00000297565.9

Conserved Domains (3) summary

COG5048
Location:172 → 307

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:174 → 194

ZF_C2H2; C2H2 Zn finger [structural motif]

cl14876
Location:18 → 124

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
NM_001286841.2 → NP_001273770.1 protein odd-skipped-related 2 isoform c

See identical proteins and their annotated locations for NP_001273770.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes to the longest isoform (c).

Source sequence(s)

AK074518, AK304654, BX101198

Consensus CDS

CCDS69520.1

UniProtKB/Swiss-Prot

Q8N2R0

Related

ENSP00000414657.2, ENST00000457907.3

Conserved Domains (4) summary

COG5048
Location:293 → 428

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:295 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:377 → 399

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:307 → 332

zf-H2C2_2; Zinc-finger double domain
NM_001394683.1 → NP_001381612.1 protein odd-skipped-related 2 isoform d

Status: VALIDATED

Source sequence(s)

AC016877

Conserved Domains (4) summary

PHA00733
Location:116 → 170

PHA00733; hypothetical protein

COG5048
Location:148 → 204

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:126 → 146

ZF_C2H2; C2H2 Zn finger [structural motif]

cl14876
Location:36 → 76

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
NM_053001.4 → NP_443727.2 protein odd-skipped-related 2 isoform b

See identical proteins and their annotated locations for NP_443727.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform b) has a shorter N-terminus and a distinct C-terminus compared to isoform c

Source sequence(s)

BC016936, BX101198

Consensus CDS

CCDS47902.1

UniProtKB/Swiss-Prot

Q8N2R0

Related

ENSP00000402862.2, ENST00000435298.6

Conserved Domains (4) summary

sd00017
Location:174 → 194

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:172 → 194

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:186 → 211

zf-H2C2_2; Zinc-finger double domain

cl14876
Location:18 → 124

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

98944442..98952100

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250778.5 → XP_005250835.1 protein odd-skipped-related 2 isoform X1

Conserved Domains (4) summary

COG5048
Location:317 → 373

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:295 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:293 → 315

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:307 → 332

zf-H2C2_2; Zinc-finger double domain
XM_011516825.3 → XP_011515127.1 protein odd-skipped-related 2 isoform X2

Conserved Domains (4) summary

COG5048
Location:229 → 364

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:231 → 251

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:313 → 335

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:243 → 268

zf-H2C2_2; Zinc-finger double domain
XM_047421327.1 → XP_047277283.1 protein odd-skipped-related 2 isoform X5

UniProtKB/Swiss-Prot

A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7

Related

ENSP00000430780.1, ENST00000522510.5
XM_047421326.1 → XP_047277282.1 protein odd-skipped-related 2 isoform X4
XM_011516826.2 → XP_011515128.1 protein odd-skipped-related 2 isoform X3

Conserved Domains (4) summary

COG5048
Location:225 → 360

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:227 → 247

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:309 → 331

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:239 → 264

zf-H2C2_2; Zinc-finger double domain
XM_011516827.3 → XP_011515129.1 protein odd-skipped-related 2 isoform X5

See identical proteins and their annotated locations for XP_011515129.1

UniProtKB/Swiss-Prot

A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7

Conserved Domains (3) summary

COG5048
Location:172 → 307

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:174 → 194

ZF_C2H2; C2H2 Zn finger [structural motif]

cl14876
Location:18 → 124

Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42