OC90 otoconin 90 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OC90provided by HGNC
Official Full Name: otoconin 90provided by HGNC
Primary source: HGNC:HGNC:8100
See related: Ensembl:ENSG00000253117 MIM:601658; AllianceGenome:HGNC:8100
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
Also known as: PLA2L
Summary: Predicted to enable calcium ion binding activity and structural molecule activity. Predicted to be involved in otolith mineralization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.22

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (132024216..132059382, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (133147149..133182286, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (133036463..133071629, complement)

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?

calcium carbonate crystal growth data demonstrate that Otolin-1 and OC90 modulate in vitro calcite crystal morphology but neither protein is sufficient to produce the shape of otoconia
Title: In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90.

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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

EBI GWAS Catalog

Description
Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-148026 (e-PCR)
- UniSTS:176162

SHGC-82157 (e-PCR)
- UniSTS:103070

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium-dependent phospholipase A2 activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in arachidonic acid secretion	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in otolith mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylcholine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in phospholipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: otoconin-90

Names: phospholipase A2 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.

mRNA and Protein(s)

NM_001080399.3 → NP_001073868.2 otoconin-90 precursor

Status: VALIDATED

Source sequence(s)

AC092817, AC100868, AK297911

Consensus CDS

CCDS47919.1

UniProtKB/Swiss-Prot

B4DNG8, Q02509

Related

ENSP00000254627.3, ENST00000254627.4

Conserved Domains (1) summary

cd04707
Location:307 → 423

otoconin_90; otoconin_90: Phospholipase A2-like domains present in otoconin-90 and otoconin-95, mammal proteins that are principal matrix proteins of calcitic otoconia. Interactions involving otoconin-90 may trigger or constitute key events in otoconia formation. The ...