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	192286
Gene name	HIG1 hypoxia inducible domain family member 2A
Gene symbol	HIGD2A
Synonyms (NCBI Gene)	HIG2ARCF1b
Chromosome	5
Chromosome location	5q35.2
Summary	The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholo

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miRTarBase ID	miRNA	Experiments	Reference
MIRT256742	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT256743	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT256744	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT256746	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT1046028	hsa-miR-1273g	CLIP-seq
MIRT1046029	hsa-miR-1296	CLIP-seq
MIRT1046030	hsa-miR-140-5p	CLIP-seq
MIRT1046031	hsa-miR-181a	CLIP-seq
MIRT1046032	hsa-miR-181b	CLIP-seq
MIRT1046033	hsa-miR-181c	CLIP-seq
MIRT1046034	hsa-miR-181d	CLIP-seq
MIRT1046035	hsa-miR-1909	CLIP-seq
MIRT1046036	hsa-miR-194	CLIP-seq
MIRT1046037	hsa-miR-2861	CLIP-seq
MIRT1046038	hsa-miR-3121-3p	CLIP-seq
MIRT1046039	hsa-miR-3143	CLIP-seq
MIRT1046040	hsa-miR-3673	CLIP-seq
MIRT1046041	hsa-miR-371-5p	CLIP-seq
MIRT1046042	hsa-miR-371b-5p	CLIP-seq
MIRT1046043	hsa-miR-380	CLIP-seq
MIRT1046044	hsa-miR-3941	CLIP-seq
MIRT1046045	hsa-miR-4262	CLIP-seq
MIRT1046046	hsa-miR-4292	CLIP-seq
MIRT1046047	hsa-miR-4308	CLIP-seq
MIRT1046048	hsa-miR-4419a	CLIP-seq
MIRT1046049	hsa-miR-4428	CLIP-seq
MIRT1046050	hsa-miR-4477a	CLIP-seq
MIRT1046051	hsa-miR-4495	CLIP-seq
MIRT1046052	hsa-miR-4510	CLIP-seq
MIRT1046053	hsa-miR-4512	CLIP-seq
MIRT1046054	hsa-miR-4640-5p	CLIP-seq
MIRT1046055	hsa-miR-4643	CLIP-seq
MIRT1046056	hsa-miR-466	CLIP-seq
MIRT1046057	hsa-miR-4672	CLIP-seq
MIRT1046058	hsa-miR-4717-3p	CLIP-seq
MIRT1046059	hsa-miR-4719	CLIP-seq
MIRT1046060	hsa-miR-4726-5p	CLIP-seq
MIRT1046061	hsa-miR-4731-3p	CLIP-seq
MIRT1046062	hsa-miR-4757-5p	CLIP-seq
MIRT1046063	hsa-miR-4779	CLIP-seq
MIRT1046064	hsa-miR-4801	CLIP-seq
MIRT1046065	hsa-miR-543	CLIP-seq
MIRT1046066	hsa-miR-582-5p	CLIP-seq
MIRT1046067	hsa-miR-629	CLIP-seq
MIRT1046068	hsa-miR-642b	CLIP-seq
MIRT1046069	hsa-miR-662	CLIP-seq
MIRT1046070	hsa-miR-935	CLIP-seq
MIRT1046028	hsa-miR-1273g	CLIP-seq
MIRT2010229	hsa-miR-1290	CLIP-seq
MIRT1046029	hsa-miR-1296	CLIP-seq
MIRT1046030	hsa-miR-140-5p	CLIP-seq
MIRT1046031	hsa-miR-181a	CLIP-seq
MIRT1046032	hsa-miR-181b	CLIP-seq
MIRT1046033	hsa-miR-181c	CLIP-seq
MIRT1046034	hsa-miR-181d	CLIP-seq
MIRT1046035	hsa-miR-1909	CLIP-seq
MIRT1046036	hsa-miR-194	CLIP-seq
MIRT2010230	hsa-miR-2355-5p	CLIP-seq
MIRT1046037	hsa-miR-2861	CLIP-seq
MIRT1046038	hsa-miR-3121-3p	CLIP-seq
MIRT1046039	hsa-miR-3143	CLIP-seq
MIRT2010231	hsa-miR-3159	CLIP-seq
MIRT1046040	hsa-miR-3673	CLIP-seq
MIRT1046041	hsa-miR-371-5p	CLIP-seq
MIRT1046042	hsa-miR-371b-5p	CLIP-seq
MIRT1046043	hsa-miR-380	CLIP-seq
MIRT2010232	hsa-miR-3922-5p	CLIP-seq
MIRT1046044	hsa-miR-3941	CLIP-seq
MIRT1046045	hsa-miR-4262	CLIP-seq
MIRT1046046	hsa-miR-4292	CLIP-seq
MIRT1046047	hsa-miR-4308	CLIP-seq
MIRT1046048	hsa-miR-4419a	CLIP-seq
MIRT1046049	hsa-miR-4428	CLIP-seq
MIRT1046050	hsa-miR-4477a	CLIP-seq
MIRT1046051	hsa-miR-4495	CLIP-seq
MIRT1046052	hsa-miR-4510	CLIP-seq
MIRT1046053	hsa-miR-4512	CLIP-seq
MIRT1046054	hsa-miR-4640-5p	CLIP-seq
MIRT1046055	hsa-miR-4643	CLIP-seq
MIRT1046056	hsa-miR-466	CLIP-seq
MIRT1046057	hsa-miR-4672	CLIP-seq
MIRT2010233	hsa-miR-4691-5p	CLIP-seq
MIRT1046058	hsa-miR-4717-3p	CLIP-seq
MIRT1046059	hsa-miR-4719	CLIP-seq
MIRT2010234	hsa-miR-4725-5p	CLIP-seq
MIRT1046060	hsa-miR-4726-5p	CLIP-seq
MIRT2010235	hsa-miR-4734	CLIP-seq
MIRT2010236	hsa-miR-4753-5p	CLIP-seq
MIRT1046062	hsa-miR-4757-5p	CLIP-seq
MIRT1046063	hsa-miR-4779	CLIP-seq
MIRT2010237	hsa-miR-498	CLIP-seq
MIRT2010238	hsa-miR-504	CLIP-seq
MIRT1046065	hsa-miR-543	CLIP-seq
MIRT2010239	hsa-miR-544	CLIP-seq
MIRT2010240	hsa-miR-548ae	CLIP-seq
MIRT2010241	hsa-miR-548aj	CLIP-seq
MIRT2010242	hsa-miR-548am	CLIP-seq
MIRT2010243	hsa-miR-548x	CLIP-seq
MIRT1046066	hsa-miR-582-5p	CLIP-seq
MIRT1046067	hsa-miR-629	CLIP-seq
MIRT1046068	hsa-miR-642b	CLIP-seq
MIRT2010244	hsa-miR-658	CLIP-seq
MIRT1046069	hsa-miR-662	CLIP-seq
MIRT1046070	hsa-miR-935	CLIP-seq
MIRT1046028	hsa-miR-1273g	CLIP-seq
MIRT2010229	hsa-miR-1290	CLIP-seq
MIRT1046029	hsa-miR-1296	CLIP-seq
MIRT1046030	hsa-miR-140-5p	CLIP-seq
MIRT1046031	hsa-miR-181a	CLIP-seq
MIRT1046032	hsa-miR-181b	CLIP-seq
MIRT1046033	hsa-miR-181c	CLIP-seq
MIRT1046034	hsa-miR-181d	CLIP-seq
MIRT1046036	hsa-miR-194	CLIP-seq
MIRT2010230	hsa-miR-2355-5p	CLIP-seq
MIRT1046037	hsa-miR-2861	CLIP-seq
MIRT1046038	hsa-miR-3121-3p	CLIP-seq
MIRT1046039	hsa-miR-3143	CLIP-seq
MIRT2010231	hsa-miR-3159	CLIP-seq
MIRT1046040	hsa-miR-3673	CLIP-seq
MIRT1046041	hsa-miR-371-5p	CLIP-seq
MIRT1046042	hsa-miR-371b-5p	CLIP-seq
MIRT1046043	hsa-miR-380	CLIP-seq
MIRT2010232	hsa-miR-3922-5p	CLIP-seq
MIRT1046044	hsa-miR-3941	CLIP-seq
MIRT1046045	hsa-miR-4262	CLIP-seq
MIRT1046046	hsa-miR-4292	CLIP-seq
MIRT1046047	hsa-miR-4308	CLIP-seq
MIRT1046048	hsa-miR-4419a	CLIP-seq
MIRT1046049	hsa-miR-4428	CLIP-seq
MIRT1046051	hsa-miR-4495	CLIP-seq
MIRT1046052	hsa-miR-4510	CLIP-seq
MIRT1046053	hsa-miR-4512	CLIP-seq
MIRT1046054	hsa-miR-4640-5p	CLIP-seq
MIRT1046055	hsa-miR-4643	CLIP-seq
MIRT1046056	hsa-miR-466	CLIP-seq
MIRT1046057	hsa-miR-4672	CLIP-seq
MIRT2010233	hsa-miR-4691-5p	CLIP-seq
MIRT1046058	hsa-miR-4717-3p	CLIP-seq
MIRT2010234	hsa-miR-4725-5p	CLIP-seq
MIRT1046060	hsa-miR-4726-5p	CLIP-seq
MIRT1046061	hsa-miR-4731-3p	CLIP-seq
MIRT2010235	hsa-miR-4734	CLIP-seq
MIRT2010236	hsa-miR-4753-5p	CLIP-seq
MIRT1046062	hsa-miR-4757-5p	CLIP-seq
MIRT1046063	hsa-miR-4779	CLIP-seq
MIRT1046064	hsa-miR-4801	CLIP-seq
MIRT2010237	hsa-miR-498	CLIP-seq
MIRT2010238	hsa-miR-504	CLIP-seq
MIRT1046065	hsa-miR-543	CLIP-seq
MIRT2010239	hsa-miR-544	CLIP-seq
MIRT2010240	hsa-miR-548ae	CLIP-seq
MIRT2010241	hsa-miR-548aj	CLIP-seq
MIRT2010242	hsa-miR-548am	CLIP-seq
MIRT2010243	hsa-miR-548x	CLIP-seq
MIRT1046066	hsa-miR-582-5p	CLIP-seq
MIRT1046067	hsa-miR-629	CLIP-seq
MIRT1046068	hsa-miR-642b	CLIP-seq
MIRT2010244	hsa-miR-658	CLIP-seq
MIRT1046069	hsa-miR-662	CLIP-seq
MIRT1046070	hsa-miR-935	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	21856340
GO:0097250	Process	Mitochondrial respirasome assembly	IBA

MIM	HGNC	e!Ensembl
620788	28311	ENSG00000146066

Q9BW72

Protein name

HIG1 domain family member 2A, mitochondrial (RCF1 homolog B) (RCF1b)

Protein function

Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04588	HIG_1_N	45 → 96	Hypoxia induced protein conserved region	Family

Sequence

MATPGPVIPEVPFEPSKPPVIEGLSPTVYRNPESFKEKFVRKTRENPVVPIGCLATAAAL
TYGLYSFHRGNSQRSQLMMRTRIAAQGFTVAAILLGLAVTAMKSRP

Sequence length

106

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 Unknown Diseases (1)

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.
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	Pubtator	38375886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	32317297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★★★★★ ★☆☆☆☆ Found in Text Mining only

HIGD2A (HIG1 hypoxia inducible domain family member 2A)