Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79135
Gene name	Apolipoprotein O
Gene symbol	APOO
Synonyms (NCBI Gene)	FAM121BMIC26MICOS26Mic23My025
Chromosome	X
Chromosome location	Xp22.11
Summary	This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glyco

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029755	hsa-miR-26b-5p	Microarray	19088304
MIRT790464	hsa-miR-1265	CLIP-seq
MIRT790465	hsa-miR-1273e	CLIP-seq
MIRT790466	hsa-miR-2392	CLIP-seq
MIRT790467	hsa-miR-27a	CLIP-seq
MIRT790468	hsa-miR-27b	CLIP-seq
MIRT790469	hsa-miR-3920	CLIP-seq
MIRT790470	hsa-miR-4426	CLIP-seq
MIRT790471	hsa-miR-4647	CLIP-seq
MIRT790472	hsa-miR-4653-3p	CLIP-seq
MIRT790473	hsa-miR-4662b	CLIP-seq
MIRT790474	hsa-miR-513a-5p	CLIP-seq
MIRT2173348	hsa-miR-1200	CLIP-seq
MIRT790464	hsa-miR-1265	CLIP-seq
MIRT790465	hsa-miR-1273e	CLIP-seq
MIRT790466	hsa-miR-2392	CLIP-seq
MIRT2173349	hsa-miR-3074-5p	CLIP-seq
MIRT2173350	hsa-miR-3140-5p	CLIP-seq
MIRT2173351	hsa-miR-3185	CLIP-seq
MIRT790464	hsa-miR-1265	CLIP-seq
MIRT790466	hsa-miR-2392	CLIP-seq
MIRT790467	hsa-miR-27a	CLIP-seq
MIRT790468	hsa-miR-27b	CLIP-seq
MIRT790474	hsa-miR-513a-5p	CLIP-seq
MIRT2476897	hsa-miR-200b	CLIP-seq
MIRT2476898	hsa-miR-200c	CLIP-seq
MIRT2476899	hsa-miR-3137	CLIP-seq
MIRT2476900	hsa-miR-3686	CLIP-seq
MIRT2476901	hsa-miR-429	CLIP-seq
MIRT2476902	hsa-miR-4652-3p	CLIP-seq
MIRT790472	hsa-miR-4653-3p	CLIP-seq
MIRT2476903	hsa-miR-4802-5p	CLIP-seq
MIRT2476904	hsa-miR-617	CLIP-seq
MIRT2476897	hsa-miR-200b	CLIP-seq
MIRT2476898	hsa-miR-200c	CLIP-seq
MIRT2476899	hsa-miR-3137	CLIP-seq
MIRT2476900	hsa-miR-3686	CLIP-seq
MIRT2476901	hsa-miR-429	CLIP-seq
MIRT2476902	hsa-miR-4652-3p	CLIP-seq
MIRT790472	hsa-miR-4653-3p	CLIP-seq
MIRT2476903	hsa-miR-4802-5p	CLIP-seq
MIRT2476904	hsa-miR-617	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	25764979
GO:0000139	Component	Golgi membrane	IEA
GO:0001401	Component	SAM complex	HDA	26477565
GO:0005515	Function	Protein binding	IPI	25764979
GO:0005576	Component	Extracellular region	IDA	25764979
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	ISS	22261194
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	24743151, 25781180
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	25764979
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	25997101
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	25764979
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006869	Process	Lipid transport	IEA
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0016020	Component	Membrane	IEA
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0042407	Process	Cristae formation	IBA
GO:0042407	Process	Cristae formation	IEA
GO:0042407	Process	Cristae formation	IMP	25764979
GO:0042407	Process	Cristae formation	NAS	25997101
GO:0044284	Component	Mitochondrial crista junction	NAS	25997101
GO:0061617	Component	MICOS complex	HDA	26477565
GO:0061617	Component	MICOS complex	IBA
GO:0061617	Component	MICOS complex	IDA	25764979, 25781180, 25997101
GO:0061617	Component	MICOS complex	IEA
GO:0061617	Component	MICOS complex	NAS	25997101
GO:0140275	Component	MIB complex	HDA	26477565

MIM	HGNC	e!Ensembl
300753	28727	ENSG00000184831

Q9BUR5

Protein name

MICOS complex subunit MIC26 (Apolipoprotein O) (MICOS complex subunit MIC23) (Protein FAM121B)

Protein function

Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09769	ApoO	31 → 177	Apolipoprotein O	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined. Up-regulated in diabetic heart. {ECO:0000269|PubMed:16956892}.

Sequence

MFKVIQRSVGPASLSLLTFKVYAAPKKDSPPKNSVKVDELSLYSVPEGQSKYVEEARSQL
EESISQLRHYCEPYTTWCQETYSQTKPKMQSLVQWGLDSYDYLQNAPPGFFPRLGVIGFA
GLIGLLLARGSKIKKLVYPPGFMGLAASLYYPQQAIVFAQVSGERLYDWGLRGYIVIEDL
WKENFQKPGNVKNSPGTK

Sequence length

198

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cognitive impairment and autistic features	Pathogenic	rs1925449605	RCV001254025	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lactic acidosis	Pathogenic	rs1925449605	RCV001254025	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Pathogenic	rs1925449605	RCV001254025	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
APOO-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	22693255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39558346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24341743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24743151, 28647361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24341743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29432786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24743151		★★★★★ ★☆☆☆☆ Found in Text Mining only

APOO (apolipoprotein O)