ADIRF

Summary

ADIRF (adipogenesis regulatory factor, HGNC:24043) is a protein-coding gene on chromosome 10q23.2, encoding Adipogenesis regulatory factor (Q15847). Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation.

APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown.

Source: NCBI Gene 10974 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 33 total — 17 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_006829

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24043
Approved symbol	ADIRF
Name	adipogenesis regulatory factor
Location	10q23.2
Locus type	gene with protein product
Status	Approved
Aliases	APM2, AFRO
Ensembl gene	ENSG00000148671
Ensembl biotype	protein_coding
OMIM	621163
Entrez	10974

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000372013, ENST00000416348, ENST00000561504, ENST00000715805, ENST00000953690

RefSeq mRNA: 1 — MANE Select: NM_006829 NM_006829

CCDS: CCDS7381

Canonical transcript exons

ENST00000372013 — 3 exons

Exon	Start	End
ENSE00000986492	86968482	86968605
ENSE00003698394	86970476	86970915
ENSE00003702292	86970200	86970262

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 99.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 100.1080 / max 7843.9664, expressed in 1080 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106009	100.1080	1080

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
popliteal artery	UBERON:0002250	99.85	gold quality
tibial artery	UBERON:0007610	99.84	gold quality
left coronary artery	UBERON:0001626	99.77	gold quality
aorta	UBERON:0000947	99.76	gold quality
coronary artery	UBERON:0001621	99.76	gold quality
right coronary artery	UBERON:0001625	99.74	gold quality
descending thoracic aorta	UBERON:0002345	99.73	gold quality
adipose tissue	UBERON:0001013	99.69	gold quality
blood vessel layer	UBERON:0004797	99.69	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.68	gold quality
omental fat pad	UBERON:0010414	99.67	gold quality
ascending aorta	UBERON:0001496	99.66	gold quality
thoracic aorta	UBERON:0001515	99.66	gold quality
peritoneum	UBERON:0002358	99.66	gold quality
tibial nerve	UBERON:0001323	99.61	gold quality
subcutaneous adipose tissue	UBERON:0002190	99.59	gold quality
mucosa of stomach	UBERON:0001199	99.50	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.47	gold quality
cranial nerve II	UBERON:0000941	99.42	gold quality
tendon of biceps brachii	UBERON:0008188	99.35	gold quality
connective tissue	UBERON:0002384	99.29	gold quality
prostate gland	UBERON:0002367	99.28	gold quality
left uterine tube	UBERON:0001303	99.27	gold quality
jejunal mucosa	UBERON:0000399	99.25	gold quality
endocervix	UBERON:0000458	99.21	gold quality
synovial joint	UBERON:0002217	99.21	gold quality
buccal mucosa cell	CL:0002336	99.12	gold quality
ectocervix	UBERON:0012249	99.10	gold quality
left ovary	UBERON:0002119	99.09	gold quality
right ovary	UBERON:0002118	99.04	gold quality

Single-cell (SCXA)

Detected in 37 experiment(s), a significant marker in 35.

Experiment	Marker?	Max mean expression
E-MTAB-8381	yes	15883.34
E-CURD-126	yes	8073.77
E-MTAB-8322	yes	7997.55
E-MTAB-8410	yes	7610.24
E-HCAD-11	yes	7366.24
E-GEOD-125970	yes	6903.17
E-CURD-46	yes	6464.51
E-MTAB-10287	yes	6338.37
E-GEOD-124263	yes	6182.58
E-HCAD-36	yes	6032.20
E-HCAD-1	yes	5084.55
E-HCAD-38	yes	4642.10
E-GEOD-134144	yes	4541.90
E-MTAB-10885	yes	4461.17
E-MTAB-6653	yes	3690.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting ADIRF, 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-590-3P	99.96	74.34	6478
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-876-5P	97.99	68.49	1345
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-4737	89.94	65.03	82

Literature-anchored findings (GeneRIF, showing 5)

• Overexpression of APM2 promote cisplatin resistance in cancer. (PMID:19444912)
• Over-expressed in omental tissues from obese patients, C10orf16 manifested the characteristics of an adipocyte lineage-specific nuclear factor that can modulate the master adipogenesis transcription factors early during differentiation. (PMID:23239344)
• C10orf116 loss was associated with higher pathological stage, higher clinical stage, and lymph node metastasis in prostate cancer. (PMID:29084195)
• Adipose most abundant 2 protein is a predictive marker for cisplatin sensitivity in cancers. (PMID:33737617)
• Hypermethylation of the ADIRF promoter regulates its expression level and is involved in NNK-induced malignant transformation of lung bronchial epithelial cells. (PMID:37777989)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Adipogenesis regulatory factor — Q15847 (reviewed: Q15847)

Alternative names: Adipogenesis factor rich in obesity, Adipose most abundant gene transcript 2 protein, Adipose-specific protein 2

All UniProt accessions (3): Q15847, Q5TBU2, Q5TBU5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin.

Subcellular location. Nucleus.

Tissue specificity. Expressed in adipose tissue (at protein level). Highly expressed in omental and subcutaneous adipose tissues. Expressed in heart, cornea, liver, kidney and spleen.

Induction. Up-regulated during pre-adipocyte differentiation. Up-regulated following DNA damage induced by UV irradiation.

RefSeq proteins (1): NP_006820* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR034450	ADIRF	Family

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15847-F1	74.15	0.11

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation
R-HSA-1266738	Developmental Biology
R-HSA-9843745	Adipogenesis

MSigDB gene sets: 143 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, CHANDRAN_METASTASIS_DN, MODULE_66, CAIRO_HEPATOBLASTOMA_CLASSES_DN, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, MCLACHLAN_DENTAL_CARIES_DN, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, WU_ALZHEIMER_DISEASE_DN, MODULE_213, VANHARANTA_UTERINE_FIBROID_DN, GOZGIT_ESR1_TARGETS_UP

GO Biological Process (3): cell differentiation (GO:0030154), positive regulation of fat cell differentiation (GO:0045600), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Adipogenesis	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cellular developmental process	1
fat cell differentiation	1
positive regulation of cell differentiation	1
regulation of fat cell differentiation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
extracellular vesicle	1

Protein interactions and networks

STRING

574 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADIRF	TMEM256	Q8N2U0	430
ADIRF	PCDHB2	Q9Y5E7	427
ADIRF	FAM25A	B3EWG3	343
ADIRF	TAF1D	Q9H5J8	335
ADIRF	SYF2	O95926	320
ADIRF	IP6K2	Q9UHH9	316
ADIRF	SPTSSB	Q8NFR3	316
ADIRF	NUDT10	Q8NFP7	311
ADIRF	LAMTOR1	Q6IAA8	310
ADIRF	LMNA	P02545	307
ADIRF	ATP6V0C	P27449	303
ADIRF	RNF123	Q5XPI4	297
ADIRF	CLEC3A	O75596	294
ADIRF	LZTS1	Q9Y250	293
ADIRF	PLPPR5	Q32ZL2	291

IntAct

7 interactions, top by confidence:

A	B	Type	Score
IL18	ADIRF	psi-mi:“MI:0915”(physical association)	0.560
GSK3B	ADIRF	psi-mi:“MI:0915”(physical association)	0.370
RPS6KA6	ADIRF	psi-mi:“MI:0915”(physical association)	0.370
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
IL18	ADIRF	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): IL18 (Two-hybrid), ADIRF (Co-fractionation), ADIRF (Co-fractionation), ADIRF (Co-fractionation), ADIRF (Co-fractionation), ADIRF (Co-fractionation), ADIRF (Affinity Capture-RNA), ADIRF (Proximity Label-MS), ADIRF (Protein-peptide), ADIRF (Proximity Label-MS), ADIRF (Proximity Label-MS), ADIRF (Two-hybrid), ADIRF (Two-hybrid)

ESM2 similar proteins: A0A0E4AVP3, A2XG55, A3AHG5, O36029, O55042, O76070, O94724, P01094, P0CU49, P16547, P22943, P23283, P33567, P37377, P37379, P37840, P53707, P61138, P61139, P61140, P61141, P61142, P61143, P61144, P61145, P61146, P61147, Q15847, Q16143, Q2PFW6, Q39846, Q3I5G7, Q3T0G8, Q42512, Q5XF06, Q63544, Q63754, Q6TMJ3, Q8LFD5, Q91448

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	1
Uncertain significance	14
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (18)

Variant ID	HGVS	Classification
1068879	NC_000010.10:g.(?88683123)(89725321_?)del	Pathogenic
1340291	GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1	Pathogenic
147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	Pathogenic
153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	Pathogenic
155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	Pathogenic
1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	Pathogenic
2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	Pathogenic
441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	Pathogenic
442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	Pathogenic
442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	Pathogenic
583733	NC_000010.10:g.(?88649809)(89725239_?)del	Pathogenic
58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	Pathogenic
58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	Pathogenic
58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	Pathogenic
59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	Pathogenic
815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	Pathogenic
979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	Pathogenic
563738	GRCh37/hg19 10q23.2(chr10:88615516-88980546)x1	Likely pathogenic

SpliceAI

583 predictions. Top by Δscore:

Variant	Effect	Δscore
10:86970474:A:AG	acceptor_gain	1.0000
10:86970475:G:GG	acceptor_gain	1.0000
10:86970475:GCC:G	acceptor_gain	1.0000
10:86970475:GCCAT:G	acceptor_gain	1.0000
10:86968599:G:GT	donor_gain	0.9900
10:86969110:G:GT	donor_gain	0.9900
10:86970198:A:AG	acceptor_gain	0.9900
10:86970199:G:GG	acceptor_gain	0.9900
10:86970281:G:T	donor_gain	0.9900
10:86970473:CA:C	acceptor_loss	0.9900
10:86970474:A:AC	acceptor_loss	0.9900
10:86970475:G:GT	acceptor_loss	0.9900
10:86970475:GC:G	acceptor_gain	0.9900
10:86968602:GCCG:G	donor_gain	0.9800
10:86968862:G:GT	donor_gain	0.9800
10:86968903:A:T	donor_gain	0.9800
10:86970199:GT:G	acceptor_gain	0.9800
10:86970231:G:GA	donor_gain	0.9800
10:86970280:G:GT	donor_gain	0.9800
10:86970475:GCCA:G	acceptor_gain	0.9800
10:86969026:G:GG	donor_gain	0.9700
10:86969044:T:G	donor_gain	0.9700
10:86969044:T:TG	donor_gain	0.9700
10:86970251:C:T	donor_gain	0.9700
10:86970260:AAG:A	donor_loss	0.9700
10:86970261:AG:A	donor_loss	0.9700
10:86970262:G:GC	donor_loss	0.9700
10:86970263:G:GG	donor_loss	0.9700
10:86970264:T:G	donor_loss	0.9700
10:86968549:C:T	donor_gain	0.9600

AlphaMissense

490 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:86970241:G:C	A35P	0.978
10:86970533:C:A	A61D	0.975
10:86970532:G:C	A61P	0.970
10:86970242:C:A	A35D	0.964
10:86968594:C:A	A17D	0.945
10:86970253:G:T	G39W	0.938
10:86970523:G:C	A58P	0.936
10:86970488:T:C	L46P	0.935
10:86970221:C:A	A28D	0.933
10:86970512:T:A	I54N	0.929
10:86970209:C:A	A24D	0.927
10:86970578:A:T	K76I	0.918
10:86970253:G:A	G39R	0.917
10:86970253:G:C	G39R	0.917
10:86968602:G:C	A20P	0.914
10:86968574:G:C	K10N	0.896
10:86968574:G:T	K10N	0.896
10:86968593:G:C	A17P	0.889
10:86970262:G:C	A42P	0.888
10:86970220:G:C	A28P	0.885
10:86970254:G:A	G39E	0.884
10:86968603:C:A	A20D	0.879
10:86970250:G:C	A38P	0.877
10:86970488:T:G	L46R	0.875
10:86970476:C:A	A42D	0.874
10:86968582:T:A	V13E	0.872
10:86968570:T:C	L9P	0.860
10:86970208:G:C	A24P	0.852
10:86970524:C:A	A58D	0.847
10:86970217:G:C	A27P	0.818

dbSNP variants (sampled 300 via entrez): RS1000350462 (10:86970264 T>C,G), RS1000405007 (10:86968267 T>C), RS1000736340 (10:86967239 C>T), RS1000768864 (10:86967447 G>A,C), RS1001188440 (10:86967986 C>T), RS1002481579 (10:86968889 C>A,T), RS1002863423 (10:86967036 T>A,C), RS1002894608 (10:86967199 G>A), RS1003745151 (10:86970973 C>A,G), RS1004223339 (10:86971135 G>A), RS1004363263 (10:86968704 C>T), RS1004426384 (10:86966705 G>A), RS1004497195 (10:86968385 A>G), RS1004607057 (10:86970899 G>A,T), RS1004693460 (10:86970112 C>T)

Disease associations

OMIM: gene MIM:621163 | disease phenotypes: MIM:174900, MIM:612242

GenCC curated gene-disease

Mondo (3): juvenile polyposis syndrome (MONDO:0017380), chromosome 10q23 deletion syndrome (MONDO:0012830), generalized juvenile polyposis/juvenile polyposis coli (MONDO:0008276)

Orphanet (3): Juvenile polyposis syndrome (Orphanet:2929), 10q22.3q23.3 microdeletion syndrome (Orphanet:276413), Generalized juvenile polyposis/juvenile polyposis coli (Orphanet:329971)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567385	Chromosome 10q23 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, affects cotreatment	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Progesterone	affects cotreatment, decreases expression	2
TL8-506	affects cotreatment, increases expression	1
bisphenol A	increases expression	1
deoxynivalenol	decreases expression	1
sodium arsenate	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sulforaphane	decreases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
cyanoginosin LR	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Bexarotene	increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Doxorubicin	increases expression	1
Fluorouracil	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lead	increases expression	1
Methotrexate	affects response to substance	1
Polycyclic Aromatic Hydrocarbons	increases abundance, increases expression, affects cotreatment	1
Rotenone	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05421312	PHASE4	UNKNOWN	Periarticular Penetration of Cefazolin and Clindamycin in Second Stage Revision Arthroplasty of the Hip
NCT00633607	Not specified	COMPLETED	Hereditary Colorectal and Associated Tumor Registry Study
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05254145	Not specified	UNKNOWN	Joint Microbiome Study for the Knee
NCT05320354	Not specified	UNKNOWN	Diagnosis and Bacterial Identification of Periprosthetic Joint Infection With Microbial-ID
NCT06153446	Not specified	COMPLETED	Infection Consortium Study#1
NCT06666023	Not specified	RECRUITING	Paper-based Electrochemical Point-of-care Device in Diagnostic of Orthopedic Infections
NCT06784414	Not specified	COMPLETED	Analysis of Risk Factors for Recurrence of Periprosthetic Infection in Megaprostheses Implanted for Sarcoma of Bone
NCT06806449	Not specified	COMPLETED	Results of Silver-coated Resection Prostheses in the Treatment of Periprosthetic Knee Infections with Bone Deficiency
NCT07398742	Not specified	COMPLETED	Incidence and Microbial Profiles of Periprosthetic Joint Infection After Total Knee Arthroplasty in Obese vs Non-Obese Patients
NCT07453329	Not specified	COMPLETED	Assessment of Functional Outcomes of Custom-made Articulating Spacers in Two Stage Arthroplasty for Treatment of Infected Hip Joint