ADIG

Summary

ADIG (adipogenin, HGNC:28606) is a protein-coding gene on chromosome 20q11.23, encoding Adipogenin (Q0VDE8). Plays a role in stimulating adipocyte differentiation and development.

ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).

Source: NCBI Gene 149685 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 12 total
• MANE Select transcript: NM_001393816

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28606
Approved symbol	ADIG
Name	adipogenin
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	MGC39724, SMAF1, RP5-1100H13.2
Ensembl gene	ENSG00000182035
Ensembl biotype	protein_coding
OMIM	611396
Entrez	149685

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000373348, ENST00000416116, ENST00000470147, ENST00000537425

RefSeq mRNA: 2 — MANE Select: NM_001393816 NM_001393816, NM_001393817

CCDS: CCDS54461, CCDS93039

Canonical transcript exons

ENST00000537425 — 3 exons

Exon	Start	End
ENSE00003629135	38588101	38588463
ENSE00003927725	38581197	38581374
ENSE00003935814	38586029	38586161

Expression profiles

Bgee: expression breadth broad, 72 present calls, max score 96.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0249 / max 24.8097, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184576	0.0249	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.26	gold quality
right testis	UBERON:0004534	93.11	gold quality
left testis	UBERON:0004533	92.57	gold quality
testis	UBERON:0000473	89.89	gold quality
sperm	CL:0000019	84.31	gold quality
endothelial cell	CL:0000115	83.69	silver quality
myocardium	UBERON:0002349	82.97	silver quality
buccal mucosa cell	CL:0002336	78.66	silver quality
tendon of biceps brachii	UBERON:0008188	76.79	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.19	gold quality
tibia	UBERON:0000979	71.41	gold quality
superficial temporal artery	UBERON:0001614	70.93	gold quality
esophagus squamous epithelium	UBERON:0006920	69.32	silver quality
amniotic fluid	UBERON:0000173	68.99	silver quality
parotid gland	UBERON:0001831	68.89	gold quality
substantia nigra pars reticulata	UBERON:0001966	68.42	silver quality
gingival epithelium	UBERON:0001949	68.10	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	67.59	gold quality
vena cava	UBERON:0004087	66.49	silver quality
vastus lateralis	UBERON:0001379	66.11	gold quality
quadriceps femoris	UBERON:0001377	66.04	gold quality
cerebellar vermis	UBERON:0004720	65.62	silver quality
germinal epithelium of ovary	UBERON:0001304	65.30	gold quality
mammary duct	UBERON:0001765	65.12	gold quality
pharyngeal mucosa	UBERON:0000355	64.81	silver quality
adult organism	UBERON:0007023	64.69	gold quality
layer of synovial tissue	UBERON:0007616	64.42	silver quality
heart right ventricle	UBERON:0002080	63.96	gold quality
nipple	UBERON:0002030	63.95	gold quality
thymus	UBERON:0002370	63.87	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting ADIG, 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-4492	99.87	68.25	3611
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-5583-3P	99.06	65.68	1018
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-618	97.62	67.46	861
HSA-MIR-3187-3P	97.38	65.80	904
HSA-MIR-3173-5P	97.35	65.82	1282
HSA-MIR-6799-3P	97.35	65.60	1302
HSA-MIR-3667-5P	97.16	64.87	591
HSA-MIR-4701-5P	96.45	68.41	1121
HSA-MIR-588	96.45	68.36	1127
HSA-MIR-6840-5P	88.69	60.91	68

Literature-anchored findings (GeneRIF, showing 1)

• Studies in mouse indicate the 80 aa SMAF1 protein is involved in adipocyte tissue function or regulation. (PMID:15567149)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Adig	ENSMUSG00000044405
rattus_norvegicus	Adig	ENSRNOG00000065916

Protein

Protein identifiers

Adipogenin — Q0VDE8 (reviewed: Q0VDE8)

All UniProt accessions (4): Q0VDE8, A0A158RFT8, A2A2E7, H0Y829

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in stimulating adipocyte differentiation and development.

Subcellular location. Membrane. Nucleus.

Similarity. Belongs to the adipogenin family.

RefSeq proteins (2): NP_001380745, NP_001380746 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027938	Adipogenin	Family

Pfam: PF15202

UniProt features (2 total): chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VDE8-F1	68.94	0.17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 54 (showing top): GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_GROWTH, GOBP_WHITE_FAT_CELL_DIFFERENTIATION, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_MULTICELLULAR_ORGANISM_GROWTH, GOBP_BROWN_FAT_CELL_DIFFERENTIATION, E4F1_Q6, GOBP_SECRETION, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, chr20q11

GO Biological Process (5): spermatogenesis (GO:0007283), positive regulation of fat cell differentiation (GO:0045600), white fat cell differentiation (GO:0050872), brown fat cell differentiation (GO:0050873), fat cell differentiation (GO:0045444)

GO Molecular Function (0):

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), lipid droplet (GO:0005811), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fat cell differentiation	3
cellular anatomical structure	2
developmental process involved in reproduction	1
male gamete generation	1
positive regulation of cell differentiation	1
regulation of fat cell differentiation	1
cell differentiation	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADIG	PPARG	P37231	625
ADIG	RALGAPB	Q86X10	473
ADIG	CIDEC	Q96AQ7	408
ADIG	TNF	P01375	364
ADIG	PLIN4	Q96Q06	352
ADIG	PPP1R16B	Q96T49	349
ADIG	LEP	P41159	336
ADIG	SLC32A1	Q9H598	323
ADIG	ADIPOQ	Q15848	323
ADIG	FABP4	P15090	309
ADIG	NR0B2	Q15466	303
ADIG	MEDAG	Q5VYS4	298
ADIG	CEBPA	P49715	259
ADIG	SPEM1	Q8N4L4	250
ADIG	ACAD9	Q9H845	243

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRN3, A0T0A3, A0T0U2, A4IHD1, A5GIB0, B2JA13, B7K6Q5, C9JBD0, E9Q9R3, O64242, O70337, O70903, P04601, P0C420, P0C421, P0C422, P10302, P19052, P30637, P35091, P49473, P86994, Q05268, Q06FN9, Q06J11, Q0IDJ7, Q0VDE8, Q16517, Q3AN56, Q3J8F4, Q3KPU7, Q3M4N8, Q4G3C2, Q61979, Q6B8K4, Q6ENE5, Q6JL78, Q7U9P9, Q86Y28, Q8C5Y2

Diamond homologs: Q0VDE8, Q2EMW0, Q30C86, Q8R400

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

285 predictions. Top by Δscore:

Variant	Effect	Δscore
20:38588099:AGTTT:A	acceptor_gain	0.9700
20:38588100:GTTT:G	acceptor_gain	0.9700
20:38588100:GTTTG:G	acceptor_gain	0.9700
20:38581371:CAAGG:C	donor_loss	0.9500
20:38581372:AAG:A	donor_loss	0.9500
20:38581374:GGTG:G	donor_loss	0.9500
20:38581376:T:A	donor_loss	0.9500
20:38588099:A:AG	acceptor_gain	0.9500
20:38588100:G:GG	acceptor_gain	0.9500
20:38581253:G:GT	donor_gain	0.9400
20:38586027:A:AG	acceptor_gain	0.8700
20:38586028:G:GG	acceptor_gain	0.8700
20:38588100:GT:G	acceptor_gain	0.8500
20:38586023:CCACA:C	acceptor_loss	0.8200
20:38586024:CACA:C	acceptor_loss	0.8200
20:38586025:ACAG:A	acceptor_loss	0.8200
20:38586026:CA:C	acceptor_loss	0.8200
20:38586027:AG:A	acceptor_loss	0.8200
20:38581279:A:G	donor_gain	0.8100
20:38588100:GTT:G	acceptor_gain	0.8100
20:38588103:T:TA	acceptor_gain	0.8100
20:38585926:C:T	donor_gain	0.8000
20:38581375:G:GG	donor_gain	0.7800
20:38586020:T:G	acceptor_loss	0.7800
20:38581377:GA:G	donor_loss	0.7600
20:38588092:T:TA	acceptor_loss	0.7500
20:38588096:TCTA:T	acceptor_loss	0.7500
20:38588098:TA:T	acceptor_loss	0.7500
20:38581278:AAC:A	donor_gain	0.7400
20:38586157:GCCAG:G	donor_loss	0.7400

AlphaMissense

526 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:38581350:T:A	W34R	0.897
20:38581350:T:C	W34R	0.897
20:38581326:G:C	G26R	0.889
20:38581314:T:C	C22R	0.851
20:38581321:C:G	P24R	0.851
20:38581321:C:A	P24H	0.808
20:38581318:T:A	L23H	0.798
20:38581333:T:G	L28R	0.790
20:38581327:G:A	G26D	0.783
20:38581318:T:G	L23R	0.772
20:38581354:T:C	L35P	0.760
20:38586066:G:C	W54C	0.748
20:38586066:G:T	W54C	0.748
20:38581359:T:C	F37L	0.709
20:38581361:C:A	F37L	0.709
20:38581361:C:G	F37L	0.709
20:38581333:T:A	L28Q	0.689
20:38581290:T:C	F14L	0.677
20:38581292:T:A	F14L	0.677
20:38581292:T:G	F14L	0.677
20:38581333:T:C	L28P	0.660
20:38581308:T:A	W20R	0.656
20:38581308:T:C	W20R	0.656
20:38581318:T:C	L23P	0.652
20:38581363:T:C	L38S	0.651
20:38581296:T:C	F16L	0.642
20:38581298:C:A	F16L	0.642
20:38581298:C:G	F16L	0.642
20:38586094:T:C	F64L	0.640
20:38586096:T:A	F64L	0.640

dbSNP variants (sampled 300 via entrez): RS1000540364 (20:38584031 C>T), RS1001472540 (20:38584444 C>T), RS1001652478 (20:38580311 CAGAT>C), RS1001808115 (20:38583025 C>T), RS1002041950 (20:38581851 G>A), RS1003388699 (20:38581831 A>G), RS1003580037 (20:38588380 T>C), RS1003741826 (20:38584832 CA>C), RS1004107373 (20:38581509 G>A), RS1004364996 (20:38582646 A>G), RS1004664664 (20:38581494 G>A,C,T), RS1004882918 (20:38588828 G>A), RS1005029666 (20:38586909 G>A), RS1005160391 (20:38585776 C>A,T), RS1006023645 (20:38585890 T>C)

Disease associations

OMIM: gene MIM:611396 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1

Clinical trials (associated diseases)

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