HMG20B

Summary

HMG20B (high mobility group 20B, HGNC:5002) is a protein-coding gene on chromosome 19p13.3, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related (Q9P0W2). Required for correct progression through G2 phase of the cell cycle and entry into mitosis.

Predicted to enable DNA binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of protein sumoylation; positive regulation of neuron differentiation; and skeletal muscle cell differentiation. Located in nuclear body.

Source: NCBI Gene 10362 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_006339

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5002
Approved symbol	HMG20B
Name	high mobility group 20B
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2
Ensembl gene	ENSG00000064961
Ensembl biotype	protein_coding
OMIM	605535
Entrez	10362

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 21 protein_coding, 8 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000262949, ENST00000333651, ENST00000416526, ENST00000417382, ENST00000435022, ENST00000453933, ENST00000461099, ENST00000464304, ENST00000470356, ENST00000483417, ENST00000486028, ENST00000487894, ENST00000488973, ENST00000493191, ENST00000585741, ENST00000585900, ENST00000888790, ENST00000888791, ENST00000888792, ENST00000888793, ENST00000888794, ENST00000888795, ENST00000888796, ENST00000888797, ENST00000888798, ENST00000888799, ENST00000888800, ENST00000921392, ENST00000963613, ENST00000963614, ENST00000963615

RefSeq mRNA: 1 — MANE Select: NM_006339 NM_006339

CCDS: CCDS45919

Canonical transcript exons

ENST00000333651 — 10 exons

Exon	Start	End
ENSE00001210387	3572944	3572994
ENSE00001363248	3574383	3574586
ENSE00001637496	3573692	3573800
ENSE00003466179	3573292	3573347
ENSE00003491481	3577981	3578113
ENSE00003505593	3576553	3576625
ENSE00003539781	3575540	3575660
ENSE00003608630	3578509	3579083
ENSE00003671235	3576261	3576307
ENSE00003788373	3576892	3577107

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 96.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.9642 / max 548.9486, expressed in 1823 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173215	31.0842	1822
173218	1.8367	254
173214	0.8142	555
173217	0.7685	120
173219	0.5342	76
173216	0.4179	175
173225	0.3993	101
173226	0.3674	106
173213	0.2458	100
173221	0.1357	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus	UBERON:0013473	96.70	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.70	gold quality
lower esophagus mucosa	UBERON:0035834	96.44	gold quality
metanephros cortex	UBERON:0010533	96.22	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.15	gold quality
sural nerve	UBERON:0015488	96.14	gold quality
stromal cell of endometrium	CL:0002255	95.89	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.76	gold quality
skin of leg	UBERON:0001511	95.72	gold quality
endocervix	UBERON:0000458	95.65	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.65	gold quality
popliteal artery	UBERON:0002250	95.62	gold quality
tibial artery	UBERON:0007610	95.62	gold quality
skin of abdomen	UBERON:0001416	95.61	gold quality
right uterine tube	UBERON:0001302	95.50	gold quality
tibial nerve	UBERON:0001323	95.49	gold quality
thoracic aorta	UBERON:0001515	95.49	gold quality
aorta	UBERON:0000947	95.47	gold quality
descending thoracic aorta	UBERON:0002345	95.47	gold quality
ascending aorta	UBERON:0001496	95.46	gold quality
transverse colon	UBERON:0001157	95.41	gold quality
ectocervix	UBERON:0012249	95.41	gold quality
mucosa of transverse colon	UBERON:0004991	95.34	gold quality
minor salivary gland	UBERON:0001830	95.29	gold quality
body of uterus	UBERON:0009853	95.25	gold quality
body of stomach	UBERON:0001161	95.21	gold quality
left coronary artery	UBERON:0001626	95.03	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.02	gold quality
mucosa of stomach	UBERON:0001199	95.00	gold quality
granulocyte	CL:0000094	94.93	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	23.52
E-GEOD-125970	yes	9.63
E-ANND-3	yes	9.25

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
BRCA2	Unknown

miRNA regulators (miRDB)

24 targeting HMG20B, 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-4455	100.00	65.48	1587
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-6757-5P	98.08	65.50	724
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-5699-5P	97.36	67.03	1014
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-644A	96.02	66.52	786
HSA-MIR-3943	95.87	64.57	523
HSA-MIR-3174	94.63	63.64	577
HSA-MIR-1538	85.86	60.08	75
HSA-MIR-4745-3P	83.50	60.58	126

Literature-anchored findings (GeneRIF, showing 11)

• molecular cloning, nucleotide and amino acid sequencing (PMID:11997092)
• complex containing histone deacetylase complex containing histone deacetylase mediates repression of neuronal-specific genes. (PMID:12032298)
• molecular Cloning of BRAF25, an alternatively spliced protein of BRAF35 (PMID:12083779)
• Results demonstrating association of BRAF35 with KIF4 through the interaction of their respective alpha-helical coiled-coil domains is unique so far in mammals. (PMID:12809554)
• we have examined Sox gene expression in 60 human primary gliomas. Transcripts from each of the six group E and group D genes were expressed in gliomas of various types and malignancy grades (PMID:17961134)
• beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35 (PMID:20530487)
• a novel function for HMG20b in cytokinesis is regulated by its interaction with the BRC repeats of BRCA2 (PMID:21399666)
• HMG20B/BRAF35 forms heterodimers with HMG20A/iBRAF. Heterodimerization impairs HMG20B/BRAF35 sumoylation and interaction with the LSD1-CoREST complex. (PMID:22570500)
• Fresh insight into the mechanism by which the HMG20b-BRCA2 complex controls mitotic cell division, and implicate heterozygous HMG20b mutations affecting cytokinesis regulation in the genesis of human cancers. (PMID:25486196)
• Our data reveal a novel role for MID1 and for atypical ubiquitination in balancing BRAF35 presence, and likely its activity, within nuclear and cytoplasmic compartments (PMID:28760657)
• HMG20B stabilizes association of LSD1 with GFI1 on chromatin to confer transcription repression and leukemia cell differentiation block. (PMID:36171271)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hmg20b	ENSDARG00000042045
mus_musculus	Hmg20b	ENSMUSG00000020232
rattus_norvegicus	Hmg20b	ENSRNOG00000020601
caenorhabditis_elegans	hmg-3	WBGENE00001973
caenorhabditis_elegans		WBGENE00001974

Paralogs (20): HMGB3 (ENSG00000029993), SP100 (ENSG00000067066), SMARCE1 (ENSG00000073584), SP140 (ENSG00000079263), TOX4 (ENSG00000092203), HMGXB4 (ENSG00000100281), TOX3 (ENSG00000103460), TFAM (ENSG00000108064), UBTF (ENSG00000108312), HMGB1P1 (ENSG00000124097), TOX2 (ENSG00000124191), SP110 (ENSG00000135899), HMG20A (ENSG00000140382), SSRP1 (ENSG00000149136), HMGB2 (ENSG00000164104), HMGB4 (ENSG00000176256), SP140L (ENSG00000185404), HMGB1 (ENSG00000189403), TOX (ENSG00000198846), UBTFL1 (ENSG00000255009)

Protein

Protein identifiers

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related — Q9P0W2 (reviewed: Q9P0W2)

Alternative names: BRCA2-associated factor 35, HMG box-containing protein 20B, HMG domain-containing protein 2, HMG domain-containing protein HMGX2, Sox-like transcriptional factor, Structural DNA-binding protein BRAF35

All UniProt accessions (7): Q9P0W2, B5MDG7, C9J8X5, C9JQA7, C9K049, F8WES5, K7EJR8

UniProt curated annotations — full annotation on UniProt →

Function. Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters.

Subunit / interactions. Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with the BRCA2 tumor suppressor protein. Interacts with DTNB.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Ubiquitously expressed in adult tissues.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9P0W2-1	1	yes
Q9P0W2-2	2
Q9P0W2-3	3

RefSeq proteins (1): NP_006330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR051965	ChromReg_NeuronalGeneExpr	Family

Pfam: PF00505

UniProt features (16 total): sequence conflict 4, compositionally biased region 3, splice variant 2, chain 1, DNA-binding region 1, mutagenesis site 1, region of interest 1, coiled-coil region 1, modified residue 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P0W2-F1	79.06	0.51

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 (2): 160, 31

Mutagenesis-validated functional residues (1):

Position	Phenotype
116	loss of dna binding activity of the bhc histone deacetylase complex.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3214815	HDACs deacetylate histones
R-HSA-9679191	Potential therapeutics for SARS
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 161 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_REGULATION_OF_PROTEIN_SUMOYLATION, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_NEUROGENESIS, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, BLALOCK_ALZHEIMERS_DISEASE_UP, FISCHER_G2_M_CELL_CYCLE, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (6): chromatin organization (GO:0006325), regulation of gene expression (GO:0010468), protein sumoylation (GO:0016925), negative regulation of protein sumoylation (GO:0033234), skeletal muscle cell differentiation (GO:0035914), positive regulation of neuron differentiation (GO:0045666)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nuclear body (GO:0016604)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Chromatin modifying enzymes	1
SARS-CoV Infections	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
cellular component organization	1
gene expression	1
regulation of macromolecule biosynthetic process	1
peptidyl-lysine modification	1
protein modification by small protein conjugation	1
protein sumoylation	1
regulation of protein sumoylation	1
negative regulation of protein modification by small protein conjugation or removal	1
skeletal muscle tissue development	1
cell differentiation	1
neuron differentiation	1
positive regulation of cell differentiation	1
regulation of neuron differentiation	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1

Protein interactions and networks

STRING

1422 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HMG20B	PHF21A	Q96BD5	998
HMG20B	RCOR1	Q9UKL0	994
HMG20B	HDAC1	Q13547	988
HMG20B	KDM1A	O60341	976
HMG20B	ZNF217	O75362	963
HMG20B	HDAC2	Q92769	960
HMG20B	GSE1	Q14687	853
HMG20B	CTBP1	Q13363	844
HMG20B	ZMYM2	Q9UBW7	831
HMG20B	BRCA2	P51587	791
HMG20B	ZMYM3	Q14202	570
HMG20B	GFI1B	Q5VTD9	551
HMG20B	RCOR3	Q9P2K3	537
HMG20B	H3-3A	P06351	514
HMG20B	H3C14	Q71DI3	513

IntAct

149 interactions, top by confidence:

A	B	Type	Score
BRCA2	RAD51	psi-mi:“MI:0914”(association)	0.980
HDAC1	KDM1A	psi-mi:“MI:0914”(association)	0.910
KDM1A	HDAC1	psi-mi:“MI:0914”(association)	0.910
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
SNAI1	KDM1A	psi-mi:“MI:0914”(association)	0.830
HMG20A	HMG20B	psi-mi:“MI:0915”(physical association)	0.740
HMG20A	KDM1A	psi-mi:“MI:0914”(association)	0.730
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
CCDC102B	HMG20B	psi-mi:“MI:0915”(physical association)	0.720
HMG20B	CCDC102B	psi-mi:“MI:0915”(physical association)	0.720
HMG20B	KRT38	psi-mi:“MI:0915”(physical association)	0.700
KRT38	HMG20B	psi-mi:“MI:0915”(physical association)	0.700
CRYAA	HMG20B	psi-mi:“MI:0915”(physical association)	0.670
BRCA2	HMG20B	psi-mi:“MI:0915”(physical association)	0.580

BioGRID (217): HMG20B (Two-hybrid), HMG20B (Two-hybrid), TFIP11 (Two-hybrid), CCDC136 (Two-hybrid), CCDC102B (Two-hybrid), SYCE1 (Two-hybrid), HMG20B (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), KDM1A (Affinity Capture-MS), GSE1 (Affinity Capture-MS), PHF21A (Affinity Capture-MS), RCOR2 (Affinity Capture-MS), RCOR3 (Affinity Capture-MS), RCOR1 (Affinity Capture-MS)

ESM2 similar proteins: A0A088MLT8, A2AQ19, A4FV29, A4IFK9, B3KU38, O14795, O70166, O93388, O95983, P21818, P31395, P50751, P54227, P55821, P63042, P63043, Q09001, Q09002, Q09004, Q09006, Q2KJ58, Q32L68, Q4KUS2, Q4R4N5, Q5F3L9, Q5FVJ5, Q5PSV4, Q5R4C5, Q5R562, Q5R8C6, Q5RAD5, Q62768, Q6GQB5, Q8IVM0, Q8IW50, Q8TBN0, Q8VDV3, Q90987, Q92541, Q93045

Diamond homologs: A9RA84, B0CM99, B1MTB0, B2RPK0, F1LYL9, O04235, O15347, O49596, O49597, O54879, O94842, P07156, P07746, P09429, P10103, P11632, P11633, P12682, P17741, P23497, P26583, P26584, P26585, P26586, P27347, P30681, P36395, P40618, P40619, P40620, P40621, P40622, P40632, P40644, P40650, P40673, P48434, P52925, P63158, P63159

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
HMG20B	“form complex”	“BHC complex”	binding
MID1	“down-regulates quantity by destabilization”	HMG20B	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 85 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
Regulation of PTEN gene transcription	5	16.2×	3e-03
Negative Regulation of CDH1 Gene Transcription	5	10.9×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of transforming growth factor beta receptor signaling pathway	5	11.1×	3e-03
anatomical structure morphogenesis	5	8.9×	5e-03
central nervous system development	6	8.9×	2e-03
transcription by RNA polymerase II	9	8.1×	2e-04
negative regulation of gene expression	8	7.1×	1e-03
chromatin remodeling	7	6.5×	3e-03
positive regulation of gene expression	12	6.0×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1203 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3573343:GCCGC:G	donor_gain	1.0000
19:3573346:GC:G	donor_gain	1.0000
19:3573690:A:AG	acceptor_gain	1.0000
19:3573690:AGGCC:A	acceptor_gain	1.0000
19:3573691:G:GG	acceptor_gain	1.0000
19:3573691:GGCC:G	acceptor_gain	1.0000
19:3573691:GGCCG:G	acceptor_gain	1.0000
19:3574578:G:GT	donor_gain	1.0000
19:3574582:AGCAG:A	donor_loss	1.0000
19:3574583:GCAG:G	donor_gain	1.0000
19:3574584:C:T	donor_gain	1.0000
19:3574585:AGG:A	donor_loss	1.0000
19:3574586:GG:G	donor_loss	1.0000
19:3574587:GT:G	donor_loss	1.0000
19:3574588:T:A	donor_loss	1.0000
19:3575538:A:AG	acceptor_gain	1.0000
19:3575538:AGC:A	acceptor_gain	1.0000
19:3575539:G:GG	acceptor_gain	1.0000
19:3575539:GC:G	acceptor_gain	1.0000
19:3575539:GCG:G	acceptor_gain	1.0000
19:3575539:GCGGT:G	acceptor_gain	1.0000
19:3575656:GAAAG:G	donor_gain	1.0000
19:3576255:C:CA	acceptor_gain	1.0000
19:3576259:A:AG	acceptor_gain	1.0000
19:3576260:G:GG	acceptor_gain	1.0000
19:3576260:GA:G	acceptor_gain	1.0000
19:3576260:GAA:G	acceptor_gain	1.0000
19:3576260:GAAGA:G	acceptor_gain	1.0000
19:3576545:C:CA	acceptor_gain	1.0000
19:3576549:TTA:T	acceptor_loss	1.0000

AlphaMissense

2071 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3574401:T:A	W56R	1.000
19:3574401:T:C	W56R	1.000
19:3574403:G:C	W56C	1.000
19:3574403:G:T	W56C	1.000
19:3574409:G:C	K58N	1.000
19:3574409:G:T	K58N	1.000
19:3574441:G:A	G69E	1.000
19:3574443:C:T	P70S	1.000
19:3574444:C:A	P70H	1.000
19:3574453:C:A	P73Q	1.000
19:3574461:G:C	G76R	1.000
19:3574462:G:A	G76D	1.000
19:3574464:T:A	Y77N	1.000
19:3574464:T:C	Y77H	1.000
19:3574464:T:G	Y77D	1.000
19:3574465:A:C	Y77S	1.000
19:3574465:A:G	Y77C	1.000
19:3574468:T:A	V78E	1.000
19:3574473:T:A	F80I	1.000
19:3574473:T:C	F80L	1.000
19:3574473:T:G	F80V	1.000
19:3574474:T:C	F80S	1.000
19:3574474:T:G	F80C	1.000
19:3574475:C:A	F80L	1.000
19:3574475:C:G	F80L	1.000
19:3574477:T:C	L81P	1.000
19:3574486:G:C	R84P	1.000
19:3574488:C:A	R85S	1.000
19:3574524:T:C	F97L	1.000
19:3574525:T:C	F97S	1.000

dbSNP variants (sampled 300 via entrez): RS1000181581 (19:3576751 C>A,T), RS1000213489 (19:3574349 GC>G,GCC), RS1001049857 (19:3572445 T>C), RS1001393431 (19:3571084 GATA>G), RS1001437146 (19:3572623 C>T), RS1001626569 (19:3575770 T>A,C), RS1002034846 (19:3571440 T>C), RS1002283171 (19:3571974 G>A), RS1002448003 (19:3571321 C>T), RS1003188918 (19:3576800 A>G), RS1003279992 (19:3572961 C>T), RS1003395919 (19:3573167 G>A), RS1003543514 (19:3574019 C>G), RS1003553500 (19:3573885 T>G), RS1003609384 (19:3579450 A>G)

Disease associations

OMIM: gene MIM:605535 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90000025_667	Appendicular lean mass	3.000000e-17

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	5
Tetrachlorodibenzodioxin	increases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
geraniol	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
ICG 001	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
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Etoposide	affects response to substance	1
Fluorouracil	decreases expression	1
Mitoxantrone	affects response to substance	1
Smoke	decreases expression	1
Urethane	increases expression	1
Zinc	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases methylation	1
Mitomycin	affects response to substance	1
Cadmium Chloride	increases abundance, increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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