SUPT7L

Summary

SUPT7L (SPT7 like, STAGA complex subunit gamma, HGNC:30632) is a protein-coding gene on chromosome 2p23.3, encoding STAGA complex 65 subunit gamma (O94864).

SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).

Source: NCBI Gene 9913 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lipodystrophy (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 67 total — 2 pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_014860

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30632
Approved symbol	SUPT7L
Name	SPT7 like, STAGA complex subunit gamma
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	STAF65gamma, KIAA0764, SPT7L, STAF65
Ensembl gene	ENSG00000119760
Ensembl biotype	protein_coding
OMIM	612762
Entrez	9913

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000337768, ENST00000404798, ENST00000405491, ENST00000406540, ENST00000464789, ENST00000897270, ENST00000897271, ENST00000897272, ENST00000897273, ENST00000971044

RefSeq mRNA: 5 — MANE Select: NM_014860 NM_001282729, NM_001282730, NM_001282731, NM_001282732, NM_014860

CCDS: CCDS42667, CCDS62885, CCDS62886

Canonical transcript exons

ENST00000337768 — 6 exons

Exon	Start	End
ENSE00000735395	27655365	27655602
ENSE00000735396	27657345	27657669
ENSE00001410625	27663329	27663614
ENSE00001420253	27660984	27661388
ENSE00003491405	27662179	27662281
ENSE00003847575	27650809	27653747

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 93.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 64.3828 / max 2298.3439, expressed in 1823 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27530	48.6861	1822
27528	4.9136	1686
27523	3.1858	1438
27526	2.2731	1277
27531	1.6085	796
27527	1.0671	667
27522	0.9085	595
27524	0.6260	338
27532	0.5175	208
27525	0.4861	171

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	93.96	gold quality
right uterine tube	UBERON:0001302	93.89	gold quality
adenohypophysis	UBERON:0002196	93.26	gold quality
pituitary gland	UBERON:0000007	93.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.16	gold quality
cerebellar hemisphere	UBERON:0002245	92.70	gold quality
cerebellar cortex	UBERON:0002129	92.58	gold quality
left ovary	UBERON:0002119	92.49	gold quality
apex of heart	UBERON:0002098	92.43	gold quality
right ovary	UBERON:0002118	92.38	gold quality
granulocyte	CL:0000094	92.12	gold quality
right lobe of thyroid gland	UBERON:0001119	92.10	gold quality
right frontal lobe	UBERON:0002810	92.08	gold quality
right atrium auricular region	UBERON:0006631	92.03	gold quality
right adrenal gland cortex	UBERON:0035827	91.83	gold quality
body of uterus	UBERON:0009853	91.78	gold quality
left lobe of thyroid gland	UBERON:0001120	91.73	gold quality
right adrenal gland	UBERON:0001233	91.73	gold quality
left adrenal gland	UBERON:0001234	91.57	gold quality
left adrenal gland cortex	UBERON:0035825	91.53	gold quality
cardiac atrium	UBERON:0002081	91.48	gold quality
descending thoracic aorta	UBERON:0002345	91.48	gold quality
left coronary artery	UBERON:0001626	91.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.41	gold quality
cerebellum	UBERON:0002037	91.37	gold quality
adrenal cortex	UBERON:0001235	91.27	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.21	gold quality
thoracic aorta	UBERON:0001515	91.19	gold quality
ascending aorta	UBERON:0001496	91.17	gold quality
thyroid gland	UBERON:0002046	91.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ASCL1, ATF2, CEBPB, CEBPD, CEBPG, EOMES, ESR1, FOXA2, FOXM1, GATA1, HAND1, HAND2, ID1, IFI16, IKZF1, IRF1, JUN, KLF11, KLF13, MYC, NCOR2, NFATC1, NFATC2, NFE2L2, NFKB1, NFKB, NFKBIA, NOTO, PAX3, PAX6, POU2F1, PPARA, REL, RELA, RFX1, RORA, RXRB, SOX6, SP1

miRNA regulators (miRDB)

154 targeting SUPT7L, 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-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-651-3P	99.94	73.48	5177

Literature-anchored findings (GeneRIF, showing 3)

• A novel peptide ligand recognized by tumor-specific CD4+ T regulatory (Treg) cells is a dominant peptide derived from the mutated ARTC1 gene. ARTC1 peptide-activated CD4+ Treg cells suppress proliferation and IL-2 secretion of melanoma-reactive T cells. (PMID:15728473)
• optimal binding of STAGA to p53 involves interactions of STAGA subunits TAF9, GCN5, and ADA2b, respectively (PMID:18250150)
• Our findings reveal a distinct role of STAF65gamma in nuclear import, transcriptional repression, and cell cycle regulation at high levels of expression, which is associated with poor clinical outcomes of lung adenocarcinoma. (PMID:24852358)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	supt7l	ENSDARG00000013461
mus_musculus	Supt7l	ENSMUSG00000053134
rattus_norvegicus	Supt7l	ENSRNOG00000004927

Protein

Protein identifiers

STAGA complex 65 subunit gamma — O94864 (reviewed: O94864)

Alternative names: Adenocarcinoma antigen ART1, SPTF-associated factor 65 gamma, Suppressor of Ty 7-like

All UniProt accessions (1): O94864

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, SUPT7L, GCN5L2, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12 and TAF9.

Subcellular location. Nucleus.

Tissue specificity. Expressed at high levels in adenocarcinomas and gliomas and low in esophageal cancers and malignant hematological disease. Also expressed at high level in the thymus, low in peripheral blood mononuclear cells, and lowest in the stomach, small intestine, and skeletal muscle.

Post-translational modifications. Sumoylated.

Disease relevance. Fischer-Zirnsak progeroid syndrome (FZPS) [MIM:621130] An autosomal recessive syndrome characterized by intrauterine growth retardation, congenital generalized lipodystrophy, and a progeroid appearance. Additional features include cataracts and a neonatal tooth. The disease may be caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
O94864-1	1	yes
O94864-2	2
O94864-4	3

RefSeq proteins (5): NP_001269658, NP_001269659, NP_001269660, NP_001269661, NP_055675* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006565	BTP	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR039460	SUPT7L/Spt7	Family

Pfam: PF07524

UniProt features (20 total): helix 8, modified residue 3, region of interest 2, strand 2, splice variant 2, chain 1, compositionally biased region 1, cross-link 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
9RDK	ELECTRON MICROSCOPY	2.41
7KTR	ELECTRON MICROSCOPY	2.93
8H7G	ELECTRON MICROSCOPY	3.7
7KTS	ELECTRON MICROSCOPY	19.09

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94864-F1	65.84	0.33

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 108, 323, 334, 271

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization

MSigDB gene sets: 0 (showing top):

GO Biological Process (4): regulation of DNA repair (GO:0006282), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), maintenance of protein location in nucleus (GO:0051457)

GO Molecular Function (3): transcription coactivator activity (GO:0003713), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (3): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Chromatin organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA repair	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
RNA splicing	1
regulation of gene expression	1
regulation of primary metabolic process	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
nucleus	1
protein localization to nucleus	1
maintenance of protein localization in organelle	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
protein dimerization activity	1
binding	1
SAGA-type complex	1
DUBm complex	1
peptidase complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1140 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUPT7L	TAF8	Q7Z7C8	939
SUPT7L	SUPT20H	Q8NEM7	933
SUPT7L	TAF10	Q12962	925
SUPT7L	TRRAP	Q9Y4A5	873
SUPT7L	TAF9	Q16594	862
SUPT7L	KAT2A	Q92830	831
SUPT7L	SUPT3H	O75486	819
SUPT7L	TAF6L	Q9Y6J9	781
SUPT7L	TADA2B	Q86TJ2	775
SUPT7L	TAF5L	O75529	757
SUPT7L	VCF1	Q969W3	733
SUPT7L	TADA3	O75528	718
SUPT7L	CCDC127	Q96BQ5	714
SUPT7L	TAF12	Q16514	702
SUPT7L	ZZZ3	Q8IYH5	655

IntAct

56 interactions, top by confidence:

A	B	Type	Score
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TRRAP	ATXN7	psi-mi:“MI:0914”(association)	0.740
TADA3	TADA2A	psi-mi:“MI:0914”(association)	0.740
ATXN7L3	USP27X	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
TADA1	TAF5L	psi-mi:“MI:0914”(association)	0.640
TADA1	TADA3	psi-mi:“MI:0914”(association)	0.640
SUPT20H	ATXN7	psi-mi:“MI:0914”(association)	0.530
TAF6L	ATXN7	psi-mi:“MI:0914”(association)	0.530
TADA2B	SUPT3H	psi-mi:“MI:0914”(association)	0.530
TAF6L	SUPT3H	psi-mi:“MI:0914”(association)	0.530
SUPT20H	TAF5L	psi-mi:“MI:0914”(association)	0.530
SUPT7L	iglC2	psi-mi:“MI:0915”(physical association)	0.370
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
USP22	CNOT1	psi-mi:“MI:0914”(association)	0.350
ATXN7	SUPT3H	psi-mi:“MI:0914”(association)	0.350
SGF29	USP27X	psi-mi:“MI:0914”(association)	0.350
ENY2	EIF3CL	psi-mi:“MI:0914”(association)	0.350
SF3B3	ATXN7	psi-mi:“MI:0914”(association)	0.350
SF3B5	SUPT3H	psi-mi:“MI:0914”(association)	0.350
TAF12	ATL3	psi-mi:“MI:0914”(association)	0.350
TBP	BDP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (135): SUPT7L (Affinity Capture-MS), SUPT7L (Biochemical Activity), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS), SUPT7L (Affinity Capture-MS)

ESM2 similar proteins: A0A088MLT8, A4IIM9, A5A6N3, A9ZLX4, B3KU38, E2IUK4, E2RSQ2, F4HRV8, O54828, O75143, O75916, O94864, P0DPB3, P0DPB4, P17863, P49140, P49805, P85299, P97432, Q08DY8, Q15047, Q2KIY6, Q3B7M3, Q3UD82, Q4R8B9, Q4V7B1, Q5F3L9, Q5FVG6, Q5M7C8, Q5RE28, Q5VT97, Q5ZM71, Q6GQL0, Q6P2K3, Q6ZNC4, Q76CY8, Q7SYE0, Q80U62, Q812A5, Q86X24

Diamond homologs: O94864, Q9CZV5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SUPT7L	“form complex”	“SAGA complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
HATs acetylate histones	14	28.5×	4e-15
Chromatin organization	13	27.2×	6e-14
Chromatin modifying enzymes	13	24.1×	2e-13
Epigenetic regulation of gene expression	5	9.2×	6e-03
Ub-specific processing proteases	6	8.2×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	17	75.8×	6e-26
regulation of RNA splicing	16	56.5×	3e-22
RNA polymerase II preinitiation complex assembly	5	21.9×	2e-04
chromatin remodeling	6	7.1×	5e-03
transcription by RNA polymerase II	6	6.8×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	50
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3770135	NM_014860.3(SUPT7L):c.255_258dup (p.Asn87fs)	Pathogenic
3770136	NM_014860.3(SUPT7L):c.80G>A (p.Arg27Gln)	Pathogenic

SpliceAI

903 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27655363:A:AC	donor_gain	1.0000
2:27655364:C:CC	donor_gain	1.0000
2:27655433:C:CA	donor_gain	1.0000
2:27655598:CTAAT:C	acceptor_gain	1.0000
2:27657670:C:CC	acceptor_gain	1.0000
2:27661394:CATTT:C	acceptor_gain	1.0000
2:27661395:A:C	acceptor_gain	1.0000
2:27661398:T:C	acceptor_gain	1.0000
2:27661398:T:TC	acceptor_gain	1.0000
2:27662174:CTCA:C	donor_loss	1.0000
2:27662175:TCA:T	donor_loss	1.0000
2:27662176:CACCT:C	donor_loss	1.0000
2:27662177:A:AT	donor_gain	1.0000
2:27662278:TGCC:T	acceptor_gain	1.0000
2:27662280:CC:C	acceptor_gain	1.0000
2:27662281:CC:C	acceptor_gain	1.0000
2:27662281:CCTG:C	acceptor_loss	1.0000
2:27662282:C:A	acceptor_loss	1.0000
2:27662282:C:CC	acceptor_gain	1.0000
2:27662283:T:A	acceptor_loss	1.0000
2:27662287:G:C	acceptor_gain	1.0000
2:27662287:G:GC	acceptor_gain	1.0000
2:27663317:C:A	donor_gain	1.0000
2:27663322:A:AC	donor_gain	1.0000
2:27663323:C:CC	donor_gain	1.0000
2:27663323:CTTTA:C	donor_gain	1.0000
2:27663389:T:TA	donor_gain	1.0000
2:27653748:C:CA	acceptor_loss	0.9900
2:27653748:C:CC	acceptor_gain	0.9900
2:27653756:A:T	acceptor_gain	0.9900

AlphaMissense

2742 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27661176:A:G	L76P	0.997
2:27655578:A:C	Y257D	0.996
2:27657499:A:G	L197P	0.996
2:27657544:A:G	L182P	0.996
2:27657625:C:G	R155P	0.996
2:27661382:C:A	W7C	0.996
2:27661382:C:G	W7C	0.996
2:27661384:A:G	W7R	0.996
2:27661384:A:T	W7R	0.996
2:27657601:G:T	A163D	0.995
2:27661381:C:G	G8R	0.995
2:27661381:C:T	G8R	0.995
2:27655589:A:G	L253P	0.994
2:27657376:C:G	R238P	0.994
2:27657386:A:G	W235R	0.994
2:27657386:A:T	W235R	0.994
2:27661206:G:T	T66K	0.994
2:27657619:A:G	L157P	0.993
2:27661380:C:T	G8E	0.993
2:27657589:G:T	A167D	0.992
2:27660989:A:C	F138L	0.992
2:27660989:A:T	F138L	0.992
2:27660991:A:G	F138L	0.992
2:27657408:A:C	S227R	0.991
2:27657408:A:T	S227R	0.991
2:27657410:T:G	S227R	0.991
2:27657496:C:G	R198P	0.991
2:27653721:A:G	W337R	0.990
2:27653721:A:T	W337R	0.990
2:27657397:A:G	L231P	0.990

dbSNP variants (sampled 300 via entrez): RS1000102090 (2:27660354 G>A,T), RS1000183570 (2:27661651 C>G,T), RS1000299420 (2:27661289 G>A), RS1000354894 (2:27652902 C>T), RS1000555549 (2:27647033 A>C), RS1000672937 (2:27654530 G>A), RS1000691367 (2:27646669 G>T), RS1000815716 (2:27647749 A>C,G), RS1001197714 (2:27654079 G>A), RS1001401184 (2:27646368 T>C), RS1001474477 (2:27654232 T>G), RS1001645402 (2:27660428 T>G), RS1001679532 (2:27652331 T>C), RS1001745455 (2:27645422 C>G,T), RS1001767591 (2:27646594 G>A)

Disease associations

OMIM: gene MIM:612762 | disease phenotypes: MIM:621130

GenCC curated gene-disease

Disease	Classification	Inheritance
lipodystrophy	Limited	Autosomal recessive

Mondo (2): Fischer-Zirnsak progeroid syndrome (MONDO:0700301), lipodystrophy (MONDO:0006573)

Orphanet (0):

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000260	Wide anterior fontanel
HP:0000316	Hypertelorism
HP:0000325	Triangular face
HP:0000369	Low-set ears
HP:0000494	Downslanted palpebral fissures
HP:0000519	Developmental cataract
HP:0000695	Natal tooth
HP:0000821	Hypothyroidism
HP:0001270	Motor delay
HP:0001276	Hypertonia
HP:0001344	Absent speech
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001698	Pericardial effusion
HP:0001873	Thrombocytopenia
HP:0001974	Increased total leukocyte count
HP:0002155	Hypertriglyceridemia
HP:0002240	Hepatomegaly
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0005484	Secondary microcephaly
HP:0008070	Sparse hair
HP:0009064	Generalized lipodystrophy
HP:0010648	Dermal translucency
HP:0011220	Prominent forehead
HP:0011344	Severe global developmental delay
HP:0012385	Camptodactyly
HP:0034197	Third trimester onset
HP:0040081	Abnormal circulating creatine kinase concentration

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003048_130	Schizophrenia	4.000000e-08
GCST008103_38	Bipolar disorder	1.000000e-07

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008060	Lipodystrophy	C17.800.849.391; C18.452.584.625; C18.452.880.391

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
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Acetaminophen	increases expression	1
Caffeine	increases phosphorylation	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Selenium	decreases expression	1
Urethane	increases expression	1
Valproic Acid	affects expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00005764	PHASE4	COMPLETED	A Study of Increased Lactic Acid and Abnormal Fat Distribution in HIV-Positive Patients
NCT00006190	PHASE4	COMPLETED	A Study to Determine How and Why HIV-Infected Subjects on Anti-viral Treatment Develop Lipodystrophy
NCT00119769	PHASE4	COMPLETED	The Effect of Low-Dose Human Growth Hormone Therapy in HIV Infected Patients
NCT00192621	PHASE4	COMPLETED	Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects
NCT00202228	PHASE4	COMPLETED	Lactate Metabolism Study in HIV Infected Persons
NCT00227500	PHASE4	COMPLETED	Pravastatin for Hyperlipidaemia in HIV.
NCT00360139	PHASE4	WITHDRAWN	Clinical Trial to Determine the Efficacy of Sculptra™ Dermal Filler for the Correction of Contour Deformities Caused by Lipoatrophy
NCT00426296	PHASE4	UNKNOWN	SHARE: Simple HAART With Abacavir, Reyataz, and Epivir
NCT00865007	PHASE4	COMPLETED	Lopinavir/r Monotherapy Versus Abacavir/Lamivudine and Lopinavir/r for Limb Fat Recovery in Persons With Lipoatrophy
NCT01612858	PHASE4	COMPLETED	Metabolic Abnormalities in HIV-infected Persons
NCT00006412	PHASE3	COMPLETED	Safety and Effectiveness of Fenofibrate and Pravastatin in HIV-Positive Patients With Abnormal Blood Lipids
NCT00082628	PHASE3	COMPLETED	Treatment of Abnormal Adipose Tissue Accumulation in Human Immunodeficiency Virus (HIV) Patients
NCT00123253	PHASE3	COMPLETED	TH9507 in Patients With HIV-Associated Lipodystrophy
NCT00608023	PHASE3	COMPLETED	TH9507 Extension Study in Patients With HIV-Associated Lipodystrophy
NCT02262832	PHASE3	ACTIVE_NOT_RECRUITING	Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy
NCT04860063	PHASE3	UNKNOWN	Effect of Berberine on Metabolic Syndrome, Efficacy and Safety in Combination With Antiretroviral Therapy in PLWH.
NCT00005905	PHASE2	COMPLETED	Leptin to Treat Lipodystrophy
NCT00021463	PHASE2	COMPLETED	Changing to Nonprotease Inhibitor Treatment to Improve Side Effects
NCT00025883	PHASE2	COMPLETED	Leptin to Treat Lipodystrophy
NCT00119379	PHASE2	COMPLETED	Effectiveness of Nucleoside Supplementation or Switch to Tenofovir in Reversing Fat Loss in HIV Infected Adults
NCT00461552	PHASE2	COMPLETED	Therapeutic Approaches to HAART-Induced Lipodystrophy
NCT00647946	PHASE2	COMPLETED	Study to Evaluate Changes in Limb Fat When Switching From a Thymidine Analogue
NCT00656175	PHASE2	COMPLETED	Raltegravir Therapy for Women With HIV and Fat Accumulation
NCT01679197	PHASE2	COMPLETED	Clinical Protocol to Investigate the Efficacy of Recombinant Human Leptin (Metreleptin) in Nonalcoholic Steatohepatitis (NASH) or Nonalcoholic Fatty Liver Disease (NAFLD) Associated With Lipodystrophy
NCT01778556	PHASE2	COMPLETED	Short-term Effects of Leptin in People With Lipodystrophy
NCT02262806	PHASE2	ACTIVE_NOT_RECRUITING	Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy
NCT02639286	PHASE2	COMPLETED	Efficacy, Safety and Tolerability of ISIS 304801 in People With Partial Lipodystrophy With an Open-Label Extension
NCT07313787	PHASE2	NOT_YET_RECRUITING	Effects of Meal Macronutrients on Postprandial Lipids
NCT00006185	PHASE1	COMPLETED	Underlying Abnormalities in Fat and Muscle Leading to Lipodystrophy Syndrome
NCT00017758	PHASE1	COMPLETED	The Effect of Efavirenz and Nelfinavir on the Blood Levels of Certain Lipid-Lowering Drugs
NCT00715546	PHASE1	UNKNOWN	Autologous Adipose-Derived Stem Cell Transplantation in Patients With Lipodystrophy
NCT02034786	PHASE1	UNKNOWN	Safety Study of Filler Agent Composed of Autologous Mesenchymal Stem Cells and Hyaluronic Acid
NCT02647853	PHASE1	COMPLETED	Phase 1 Study to Assess the Safety and Tolerability of TAT4 Gel in Healthy Volunteers
NCT00910936	PHASE2/PHASE3	UNKNOWN	Exercise for Patients With HIV Infections
NCT00001142	Not specified	COMPLETED	Metabolism and Body Shape of Healthy Children and Children With Chronic Infections
NCT00004329	Not specified	COMPLETED	Study of Alpha-2 Adrenergic Receptor Dysfunction in Regional Lipoatrophy
NCT00006064	Not specified	COMPLETED	The Effect of Anti-HIV Treatment on Body Characteristics of HIV-Infected Children
NCT00006290	Not specified	COMPLETED	Perceived Changes in Body Build and Image in Patients Who Are Now Taking or Recently Have Stopped Taking Anti-HIV Drugs
NCT00015691	Not specified	COMPLETED	Metformin and Rosiglitazone, Alone or in Combination, in HIV-Infected Patients With Insulin and Fat Abnormalities
NCT00028314	Not specified	COMPLETED	Effects of Treatment Changes on Fat Wasting in the Arms and Legs of HIV Patients