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

Gene Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	90355
Gene name Gene Name - the full gene name approved by the HGNC.	Macrophage immunometabolism regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MACIR
Synonyms (NCBI Gene) Gene synonyms aliases	C5orf30
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserve

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22085962, 25416956, 28514442, 32296183, 32814053, 33961781, 36931259
GO:0005737	Component	Cytoplasm	IDA	22085962, 30659109
GO:0005737	Component	Cytoplasm	IEA
GO:0005929	Component	Cilium	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0010631	Process	Epithelial cell migration	IEA
GO:0010633	Process	Negative regulation of epithelial cell migration	IEA
GO:0010761	Process	Fibroblast migration	IEA
GO:0010764	Process	Negative regulation of fibroblast migration	IBA
GO:0010764	Process	Negative regulation of fibroblast migration	IEA
GO:0015031	Process	Protein transport	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035869	Component	Ciliary transition zone	IDA	22085962
GO:0042995	Component	Cell projection	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	30659109
GO:0060271	Process	Cilium assembly	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IBA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA

MIM	HGNC	e!Ensembl
616608	25052	ENSG00000181751

Protein

UniProt ID

Q96GV9

Protein name

Macrophage immunometabolism regulator

Protein function

Regulates the macrophage function, by enhancing the resolution of inflammation and wound repair functions mediated by M2 macrophages (PubMed:30659109). The regulation of macrophage function is, due at least in part, to its ability to inhibit gly

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15435	UNC119_bdg	3 → 200	UNC119-binding protein C5orf30 homologue	Family

Tissue specificity

TISSUE SPECIFICITY: High expression in normal macrophages, monocytes, and cultured rheumatoid arthritis synovial fibroblasts (RASFs), with lower expression in B- and T-cells, and little to no expression in other tissues and cell lines. {ECO:0000269|PubMed

Sequence

MEVDINGESRSTLTTLPFPGAEANSPGKAEAEKPRCSSTPCSPMRRTVSGYQILHMDSNY
LVGFTTGEELLKLAQKCTGGEESKAEAMPSLRSKQLDAGLARSSRLYKTRSRYYQPYEIP
AVNGRRRRRMPSSGDKCTKSLPYEPYKALHGPLPLCLLKGKRAHSKSLDYLNLDKMIKEP
ADTEVLQYQLQHLTLRGDRVFARNNT

Sequence length

206

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23)	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

MACIR (macrophage immunometabolism regulator)