OTP orthopedia homeobox [Homo sapiens (human)] - Gene

Summary

Official Symbol: OTPprovided by HGNC
Official Full Name: orthopedia homeoboxprovided by HGNC
Primary source: HGNC:HGNC:8518
See related: Ensembl:ENSG00000171540 MIM:604529; AllianceGenome:HGNC:8518
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (77628712..77638713, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (78111295..78121295, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (76924537..76934538, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Orthopedia protein (OTP) is specific for lung carcinoids because well-differentiated nonlung neuroendocrine tumors are negative for OTP. OTP preferentially stains typical carcinoids over atypical carcinoids
Title: Orthopedia homeobox is preferentially expressed in typical carcinoids of the lung.
Half of the pulmonary TC tumors expressed OTP.
Title: Immunohistochemical analysis of OTP and NKX6.1 in neuroendocrine tumors of the lung and pancreas.
We tested the functional consequences of the novel human OTP mutations and Q83K as well as the mouse R108W mutant; all affect residues that are highly conserved across species. On a single site response element, wild-type OTP was found to act as a repressor; both R108W and Q153R abolished this repression
Title: Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Our results suggest that OTP may serve as a useful diagnostic marker for lung carcinoid tumors.
Title: Diagnostic Utility of Orthopedia Homeobox (OTP) in Pulmonary Carcinoid Tumors.
Data indicate that low mRNA expression levels of CD44 and orthopedia homeobox (OTP) and high levels of RET, were strongly associated with a low 20-year survival of carcinoid patients.
Title: CD44 and OTP are strong prognostic markers for pulmonary carcinoids.
we successfully identified a novel gene OTP frequently methylated in breast cancer by genome-wide screening. Our results suggest that the OTP gene may play a crucial role in breast carcinogenesis.
Title: Genome-wide identification of OTP gene as a novel methylation marker of breast cancer.

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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Markers

NoName (e-PCR)
- UniSTS:493921

RH98803 (e-PCR)
- UniSTS:88427

NoName (e-PCR)
- UniSTS:482667

bnlg1246b (e-PCR), detects polymorphism
- UniSTS:472187

RH102344 (e-PCR)
- UniSTS:96678

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in forebrain neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neurohypophysis development	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: homeobox protein orthopedia

Names: orthopedia homolog

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.