INAFM2

Summary

INAFM2 (InaF motif containing 2, HGNC:35165) is a protein-coding gene on chromosome 15q15.1, encoding Putative transmembrane protein INAFM2 (P0DMQ5).

Predicted to be located in membrane.

Source: NCBI Gene 100505573 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• MANE Select transcript: NM_001301268

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35165
Approved symbol	INAFM2
Name	InaF motif containing 2
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Aliases	OGU1
Ensembl gene	ENSG00000259330
Ensembl biotype	protein_coding
Entrez	100505573

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000560415, ENST00000638170

RefSeq mRNA: 1 — MANE Select: NM_001301268 NM_001301268

CCDS: CCDS86448

Canonical transcript exons

ENST00000638170 — 1 exons

Exon	Start	End
ENSE00003807691	40323692	40326715

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 96.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5507 / max 112.9415, expressed in 1680 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146091	4.4533	1536
146090	1.1950	614
207473	0.9023	580

Top tissues by expression

250 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	96.33	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.39	gold quality
monocyte	CL:0000576	94.23	gold quality
leukocyte	CL:0000738	93.93	gold quality
popliteal artery	UBERON:0002250	93.89	gold quality
tibial artery	UBERON:0007610	93.89	gold quality
left coronary artery	UBERON:0001626	93.53	gold quality
descending thoracic aorta	UBERON:0002345	93.43	gold quality
aorta	UBERON:0000947	93.41	gold quality
coronary artery	UBERON:0001621	93.15	gold quality
thoracic aorta	UBERON:0001515	92.89	gold quality
ascending aorta	UBERON:0001496	92.85	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.59	silver quality
mucosa of stomach	UBERON:0001199	92.51	gold quality
right atrium auricular region	UBERON:0006631	91.78	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.55	gold quality
cardiac atrium	UBERON:0002081	91.51	gold quality
left uterine tube	UBERON:0001303	91.44	gold quality
left ventricle myocardium	UBERON:0006566	90.91	silver quality
lower esophagus muscularis layer	UBERON:0035833	90.58	gold quality
lower esophagus	UBERON:0013473	90.55	gold quality
right testis	UBERON:0004534	90.33	gold quality
left lobe of thyroid gland	UBERON:0001120	90.03	gold quality
heart	UBERON:0000948	89.92	gold quality
left testis	UBERON:0004533	89.89	gold quality
endothelial cell	CL:0000115	89.68	silver quality
heart left ventricle	UBERON:0002084	89.68	gold quality
right lobe of thyroid gland	UBERON:0001119	89.45	gold quality
tibialis anterior	UBERON:0001385	89.43	silver quality
myocardium	UBERON:0002349	89.37	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting INAFM2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-126-5P	100.00	72.71	3180
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-1275	99.47	67.90	2749

Literature-anchored findings (GeneRIF, showing 1)

• Interactive associations of the INAFM2 rs67839313 variant and egg consumption with type 2 diabetes mellitus and fasting blood glucose in a Chinese population: A family-based study. (PMID:33333222)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Inafm2	ENSMUSG00000074918
rattus_norvegicus	Inafm2	ENSRNOG00000066025

Protein

Protein identifiers

Putative transmembrane protein INAFM2 — P0DMQ5 (reviewed: P0DMQ5)

Alternative names: InaF-motif-containing protein 2, Osteogenesis up-regulated transcript 1

All UniProt accessions (1): P0DMQ5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001288197* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029162	InaF-motif	Conserved_site

Pfam: PF15018

UniProt features (7 total): compositionally biased region 3, region of interest 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DMQ5-F1	59.30	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): TRAYNOR_RETT_SYNDROM_DN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GAVIN_FOXP3_TARGETS_CLUSTER_P7, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, WHITFIELD_CELL_CYCLE_G1_S, LI_INDUCED_T_TO_NATURAL_KILLER_DN, MIR5582_3P, MIR126_5P, MIR4261, MIR205_3P, MIR147B_5P, MIR212_3P, MIR132_3P, MIR593_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

68 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
INAFM2	NTN5	Q8WTR8	398
INAFM2	CCDC85A	Q96PX6	398
INAFM2	DISP2	A7MBM2	378
INAFM2	SINHCAF	Q9NP50	375
INAFM2	C12orf75	Q8TAD7	371
INAFM2	ATP8B2	P98198	370
INAFM2	ASB3	Q9Y575	365
INAFM2	NTN3	O00634	350
INAFM2	CORO2A	Q92828	310
INAFM2	PLEKHG7	Q6ZR37	305
INAFM2	ARAP1	Q96P48	272
INAFM2	KANSL1	Q7Z3B3	268
INAFM2	FOXN3	O00409	254
INAFM2	GRK4	P32298	245
INAFM2	PDS5B	Q9NTI5	217

IntAct

0 interactions, top by confidence:

BioGRID (1): INAFM2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GUA5, A0A1B0GVQ0, A0A286YF18, A0JNN8, A2VDX9, A5PK62, A6NGB7, A9CBA0, O09800, P04488, P06480, P06764, P07646, P0C171, P0DJK0, P0DJK1, P0DMQ5, P13291, P22389, P36342, P46695, P98162, Q08102, Q1RMT9, Q2HJ59, Q3TYP4, Q5BIR3, Q5EAA5, Q5JTB6, Q5NRQ0, Q6F5E0, Q6VUC0, Q6VUP9, Q703F0, Q765Z5, Q867A9, Q867D0, Q89448, Q8MJW9, Q8TEF2

Diamond homologs: C9JVW0, P0DMQ5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

951 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:40324177:C:A	A41D	1.000
15:40324213:T:A	L53H	1.000
15:40324152:T:A	W33R	0.999
15:40324152:T:C	W33R	0.999
15:40324154:G:C	W33C	0.999
15:40324154:G:T	W33C	0.999
15:40324165:C:A	A37D	0.999
15:40324179:T:C	Y42H	0.999
15:40324201:C:A	A49D	0.999
15:40324204:C:A	A50D	0.999
15:40324238:G:C	W61C	0.999
15:40324238:G:T	W61C	0.999
15:40324162:T:A	L36H	0.998
15:40324186:T:C	L44P	0.998
15:40324191:G:A	V46M	0.998
15:40324192:T:A	V46E	0.998
15:40324198:T:C	L48P	0.998
15:40324213:T:C	L53P	0.998
15:40324216:C:A	A54D	0.998
15:40324162:T:C	L36P	0.997
15:40324170:G:A	V39M	0.997
15:40324186:T:A	L44H	0.997
15:40324203:G:C	A50P	0.997
15:40324207:T:A	I51N	0.997
15:40324213:T:G	L53R	0.997
15:40324224:T:C	Y57H	0.997
15:40324227:A:C	S58R	0.997
15:40324229:C:A	S58R	0.997
15:40324229:C:G	S58R	0.997
15:40324236:T:A	W61R	0.997

dbSNP variants (sampled 300 via entrez): RS1000261708 (15:40324461 C>T), RS1000469695 (15:40324643 A>G), RS1001042099 (15:40325876 C>T), RS1001056028 (15:40322417 A>C), RS1001261185 (15:40325671 T>G), RS1002263677 (15:40326818 G>C,T), RS1003447197 (15:40323931 G>A,T), RS1003499520 (15:40323723 G>T), RS1003554589 (15:40321709 C>A,T), RS1004004631 (15:40323944 GGGGCCGCCGGGAACCGAGGGCGCC>G), RS1004152747 (15:40323179 G>C), RS1004419405 (15:40322956 C>G), RS1004510482 (15:40324330 C>T), RS1004561386 (15:40324161 C>G,T), RS1005020129 (15:40324972 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003400_19	Type 2 diabetes	2.000000e-08
GCST003400_56	Type 2 diabetes	2.000000e-10
GCST007847_9	Type 2 diabetes	4.000000e-14
GCST010118_103	Type 2 diabetes	2.000000e-20

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	4
Phenylmercuric Acetate	affects cotreatment, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Cadmium	decreases expression	1
Doxorubicin	affects expression	1
Triclosan	decreases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.