PAM16

Summary

PAM16 (presequence translocase associated motor 16, HGNC:29679) is a protein-coding gene on chromosome 16p13.3, encoding Mitochondrial import inner membrane translocase subunit TIM16 (Q9Y3D7). Regulates ATP-dependent protein translocation into the mitochondrial matrix. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities.

Source: NCBI Gene 51025 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal recessive spondylometaphyseal dysplasia, Megarbane type (Strong, GenCC)
• GWAS associations: 9
• Clinical variants (ClinVar): 4 total
• Phenotypes (HPO): 44
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_016069

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29679
Approved symbol	PAM16
Name	presequence translocase associated motor 16
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Magmas, Tim16, TIMM16
Ensembl gene	ENSG00000217930
Ensembl biotype	protein_coding
OMIM	614336
Entrez	51025

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 15 protein_coding, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000318059, ENST00000571178, ENST00000571819, ENST00000571941, ENST00000571986, ENST00000573236, ENST00000573450, ENST00000573553, ENST00000573614, ENST00000575636, ENST00000575848, ENST00000575884, ENST00000575942, ENST00000576217, ENST00000577031, ENST00000911828, ENST00000911829, ENST00000911830, ENST00000911831, ENST00000911832, ENST00000911833, ENST00000911834, ENST00000911835, ENST00000911836

RefSeq mRNA: 1 — MANE Select: NM_016069 NM_016069

CCDS: CCDS10512

Canonical transcript exons

ENST00000318059 — 5 exons

Exon	Start	End
ENSE00001118953	4351232	4351321
ENSE00003490920	4341368	4341504
ENSE00003498419	4343207	4343291
ENSE00003619588	4340920	4340985
ENSE00003664221	4340251	4340405

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.1492 / max 141.0162, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156082	20.0005	1793
156081	7.9989	1763
156080	0.1498	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	96.63	gold quality
right lobe of liver	UBERON:0001114	96.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.46	gold quality
apex of heart	UBERON:0002098	96.09	gold quality
heart left ventricle	UBERON:0002084	96.03	gold quality
muscle of leg	UBERON:0001383	95.84	gold quality
putamen	UBERON:0001874	95.42	gold quality
nucleus accumbens	UBERON:0001882	95.18	gold quality
right adrenal gland	UBERON:0001233	95.12	gold quality
right atrium auricular region	UBERON:0006631	95.11	gold quality
skeletal muscle tissue	UBERON:0001134	95.07	gold quality
mucosa of transverse colon	UBERON:0004991	95.03	gold quality
left adrenal gland cortex	UBERON:0035825	94.99	gold quality
caudate nucleus	UBERON:0001873	94.95	gold quality
right testis	UBERON:0004534	94.95	gold quality
left adrenal gland	UBERON:0001234	94.93	gold quality
Ammon’s horn	UBERON:0001954	94.89	gold quality
hypothalamus	UBERON:0001898	94.88	gold quality
lower esophagus mucosa	UBERON:0035834	94.88	gold quality
right uterine tube	UBERON:0001302	94.85	gold quality
substantia nigra	UBERON:0002038	94.83	gold quality
body of pancreas	UBERON:0001150	94.82	gold quality
left testis	UBERON:0004533	94.79	gold quality
amygdala	UBERON:0001876	94.76	gold quality
heart	UBERON:0000948	94.74	gold quality
temporal lobe	UBERON:0001871	94.72	gold quality
pituitary gland	UBERON:0000007	94.54	gold quality
right adrenal gland cortex	UBERON:0035827	94.47	gold quality
prefrontal cortex	UBERON:0000451	94.32	gold quality
adenohypophysis	UBERON:0002196	94.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.56

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

• Magmas expression in prostate cancer. (PMID:15704001)
• Magmas protects pituitary cells from apoptosis, suggesting its possible involvement in neoplastic transformation. (PMID:20719856)
• finding of deleterious MAGMAS mutations in an early lethal skeletal dysplasia supports a key role for this mitochondrial protein in the ossification process (PMID:24786642)
• A novel essential role of Magmas is a ‘ROS regulatory protein’ in the maintenance of cellular redox homeostasis and imparting cytoprotection under oxidative stress. (PMID:25165880)
• Both DnaJC15 and DnaJC19 formed two distinct subcomplexes with Magmas at the import channel. (PMID:27330077)
• Findings demonstrate that Magmas is overexpressed in tissue sections from glioma patients and xenografts. In vivo studies showed that a novel Magmas small molecule inhibitor, BT#9, could cross the BBB in mice. In vitro studies revealed that BT#9 significantly decreased cell proliferation, induced apoptosis, and blocked migration and invasion. (PMID:30414099)
• Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import. (PMID:34715125)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	pam16	ENSDARG00000102822
mus_musculus	Pam16	ENSMUSG00000014301
mus_musculus	Pam16l	ENSMUSG00000045886
rattus_norvegicus	Pam16	ENSRNOG00000004608
rattus_norvegicus	AABR07030524.1	ENSRNOG00000028427
drosophila_melanogaster	CG1409	FBGN0029964
drosophila_melanogaster	blp	FBGN0038387
caenorhabditis_elegans		WBGENE00009734

Protein

Protein identifiers

Mitochondrial import inner membrane translocase subunit TIM16 — Q9Y3D7 (reviewed: Q9Y3D7)

Alternative names: Mitochondria-associated granulocyte macrophage CSF-signaling molecule, Presequence translocated-associated motor subunit PAM16

All UniProt accessions (7): A0A0B4J298, Q9Y3D7, I3L0X9, I3L1K9, I3L1U7, I3L3G8, I3L3T0

UniProt curated annotations — full annotation on UniProt →

Function. Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.

Subunit / interactions. Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19. Interacts with DNAJC19. Directly interacts with DNAJC15; this interaction counteracts DNAJC15-dependent stimulation of HSPA9 ATPase activity. Associates with the TIM23 complex. Associates with the TIM23 complex.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Ubiquitously expressed.

Disease relevance. Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) [MIM:613320] An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The J-like region, although related to the J domain does not have co-chaperone activity.

Induction. By CSF2/GM-CSF.

Similarity. Belongs to the TIM16/PAM16 family.

RefSeq proteins (1): NP_057153* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005341	Tim16	Family
IPR036869	J_dom_sf	Homologous_superfamily

Pfam: PF03656

UniProt features (12 total): mutagenesis site 6, sequence variant 2, chain 1, region of interest 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3D7-F1	89.52	0.59

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 (1): 69

Mutagenesis-validated functional residues (6):

Position	Phenotype
94	substantial loss of protein translocation into mitochondria in a heterologous system. substantial loss of dnajc19-bindin
62	substantial loss of protein translocation into mitochondria in a heterologous system.
85–87	no effect on protein translocation into mitochondria in a heterologous system.
92	partial loss of protein translocation into mitochondria in a heterologous system. substantial loss of protein translocat
93	partial loss of protein translocation into mitochondria in a heterologous system. substantial loss of protein translocat
94	no effect on protein translocation into mitochondria in a heterologous system.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import

MSigDB gene sets: 207 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MARTINEZ_RB1_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_OSSIFICATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_ATP_DEPENDENT_ACTIVITY, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_PROTEIN_IMPORT_INTO_MITOCHONDRIAL_MATRIX, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (5): ossification (GO:0001503), intracellular protein transport (GO:0006886), protein import into mitochondrial matrix (GO:0030150), negative regulation of ATP-dependent activity (GO:0032780), protein transport (GO:0015031)

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

GO Cellular Component (8): PAM complex, Tim23 associated import motor (GO:0001405), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), TIM23 mitochondrial import inner membrane translocase complex (GO:0005744), mitochondrial matrix (GO:0005759), protein-containing complex (GO:0032991), membrane (GO:0016020), matrix side of mitochondrial inner membrane (GO:0099617)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular protein localization	2
inner mitochondrial membrane protein complex	2
multicellular organismal process	1
protein transport	1
intracellular transport	1
protein transmembrane import into intracellular organelle	1
protein localization to mitochondrion	1
import into the mitochondrion	1
mitochondrial protein import pathway	1
regulation of ATP-dependent activity	1
negative regulation of molecular function	1
ATP-dependent activity	1
transport	1
establishment of protein localization	1
binding	1
TIM23 mitochondrial import inner membrane translocase complex	1
mitochondrial matrix	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
intracellular organelle lumen	1
cellular_component	1
cellular anatomical structure	1
mitochondrial inner membrane	1
lumenal side of membrane	1

Protein interactions and networks

STRING

772 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAM16	DNAJC19	Q96DA6	995
PAM16	TIMM44	O43615	981
PAM16	HSPA9	P30036	940
PAM16	TIMM17A	Q99595	932
PAM16	TIMM50	Q3ZCQ8	880
PAM16	TIMM21	Q9BVV7	879
PAM16	DNAJC15	Q9Y5T4	810
PAM16	GRPEL1	Q9HAV7	769
PAM16	TIMM17B	O60830	709
PAM16	TOMM22	Q9NS69	677
PAM16	TOMM70	O94826	646
PAM16	TIMM23	O14925	639
PAM16	TOMM40	O96008	633
PAM16	HSPA4	P34932	628
PAM16	TIMM9	Q9Y5J7	607

IntAct

57 interactions, top by confidence:

A	B	Type	Score
DNAJC15	PAM16	psi-mi:“MI:0915”(physical association)	0.710
TIMM17B	TIMM23	psi-mi:“MI:0914”(association)	0.670
RANBP6	SLC27A2	psi-mi:“MI:0914”(association)	0.640
PAM16	ARL6IP1	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP1	PAM16	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	PAM16	psi-mi:“MI:0915”(physical association)	0.560
FEZ1	PAM16	psi-mi:“MI:0915”(physical association)	0.550
MME	TMEM223	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
	HSPA9	psi-mi:“MI:0882”(atpase reaction)	0.440
	DENR	psi-mi:“MI:0915”(physical association)	0.400
BLOC1S2	PAM16	psi-mi:“MI:0915”(physical association)	0.370
PAM16	CEP70	psi-mi:“MI:0915”(physical association)	0.370
DNMT3B	PAM16	psi-mi:“MI:0915”(physical association)	0.370
PAM16	GPM6A	psi-mi:“MI:0915”(physical association)	0.370
MRFAP1	PAM16	psi-mi:“MI:0915”(physical association)	0.370
PGRMC1	PAM16	psi-mi:“MI:0915”(physical association)	0.370
DNAJC15	TIMM17B	psi-mi:“MI:0914”(association)	0.350
PCDHA12	KLRG2	psi-mi:“MI:0914”(association)	0.350
MIX23	TAMM41	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
MIX23	ALDH1L1	psi-mi:“MI:0914”(association)	0.350

BioGRID (146): PAM16 (Two-hybrid), DNAJC15 (Affinity Capture-Western), PAM16 (Affinity Capture-Western), PAM16 (Affinity Capture-Western), PAM16 (Affinity Capture-Western), TIMM17A (Affinity Capture-Western), TIMM17B (Affinity Capture-Western), PAM16 (Affinity Capture-MS), PAM16 (Affinity Capture-MS), PAM16 (Affinity Capture-MS), PAM16 (Affinity Capture-MS), TIMM44 (Affinity Capture-Western), PAM16 (Co-fractionation), PAM16 (Co-fractionation), PAM16 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3S9V6, A6NH52, A6QPI6, B1AZA5, B1H3B1, D3ZXD8, E1BD52, E1BWM5, F1N5S9, Q08DM5, Q0VCK9, Q0X0A5, Q29S14, Q3KNM2, Q3SZB3, Q3ZBL5, Q3ZC24, Q4R3C7, Q4RY26, Q58EA0, Q5BJS4, Q5R9I4, Q5R9K4, Q5RAJ8, Q5XIA8, Q5ZJ41, Q5ZJB7, Q6DH87, Q6GM44, Q6NYY9, Q6P4H8, Q75Q41, Q8IVP5, Q91VC9, Q91ZQ0, Q96GC9, Q99KU0, Q9BUV8, Q9CPQ3, Q9CQT9

Diamond homologs: O62250, P42949, Q4I375, Q59ZW9, Q5B187, Q5M995, Q5XGJ0, Q60RS2, Q6BXP3, Q6C331, Q6CK35, Q6EIX2, Q6FT88, Q6NTU3, Q6PBL0, Q754J4, Q7S6S4, Q93VV9, Q9C1W5, Q9CQV1, Q9VF08, Q9Y3D7, Q93W66, Q6BH37, Q78YY6, Q4I7T5, Q4WI88, Q54SV6, Q5B4H1, Q6PBT7, Q7RX75, Q59SI2, Q6CNW2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PAM16	“form complex”	“TIM23 complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

2286 predictions. Top by Δscore:

Variant	Effect	Δscore
16:4332314:C:G	donor_gain	1.0000
16:4332394:G:GT	donor_gain	1.0000
16:4332448:CTCAG:C	donor_loss	1.0000
16:4332449:TCAGG:T	donor_loss	1.0000
16:4332450:CAGG:C	donor_loss	1.0000
16:4332451:AGGT:A	donor_loss	1.0000
16:4332452:GG:G	donor_loss	1.0000
16:4332453:G:C	donor_loss	1.0000
16:4332454:T:G	donor_loss	1.0000
16:4333342:CTCA:C	acceptor_loss	1.0000
16:4333343:TCAG:T	acceptor_loss	1.0000
16:4333344:CA:C	acceptor_loss	1.0000
16:4333345:A:AG	acceptor_gain	1.0000
16:4333345:AG:A	acceptor_gain	1.0000
16:4333346:G:GA	acceptor_gain	1.0000
16:4333346:GG:G	acceptor_gain	1.0000
16:4333346:GGC:G	acceptor_gain	1.0000
16:4333346:GGCT:G	acceptor_gain	1.0000
16:4333346:GGCTT:G	acceptor_gain	1.0000
16:4333520:G:A	donor_loss	1.0000
16:4333520:G:GG	donor_gain	1.0000
16:4334796:CCCA:C	acceptor_loss	1.0000
16:4334797:CCA:C	acceptor_loss	1.0000
16:4334799:A:AG	acceptor_gain	1.0000
16:4334799:AG:A	acceptor_gain	1.0000
16:4334800:G:GG	acceptor_gain	1.0000
16:4334800:GG:G	acceptor_gain	1.0000
16:4334975:AAGGT:A	donor_loss	1.0000
16:4334976:AGG:A	donor_loss	1.0000
16:4334978:G:GA	donor_loss	1.0000

AlphaMissense

806 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:4340920:C:A	K97N	0.999
16:4340920:C:G	K97N	0.999
16:4341418:C:G	A59P	0.997
16:4340925:A:G	S96P	0.996
16:4343261:C:G	G12R	0.996
16:4340386:C:G	R104P	0.995
16:4341405:A:G	L63P	0.995
16:4343245:C:T	G17D	0.995
16:4343260:C:T	G12D	0.995
16:4341405:A:T	L63H	0.994
16:4341408:A:G	I62T	0.994
16:4340396:C:G	A101P	0.993
16:4340398:C:G	R100P	0.992
16:4340922:T:C	K97E	0.992
16:4341408:A:C	I62S	0.992
16:4340930:A:G	L94P	0.991
16:4341408:A:T	I62N	0.991
16:4343278:G:T	A6D	0.991
16:4340395:G:T	A101E	0.990
16:4340940:A:G	S91P	0.990
16:4343215:T:A	E27V	0.990
16:4343246:C:G	G17R	0.990
16:4340383:A:G	L105P	0.989
16:4340926:C:A	Q95H	0.989
16:4340926:C:G	Q95H	0.989
16:4340934:A:C	Y93D	0.989
16:4340959:A:C	N84K	0.989
16:4340959:A:T	N84K	0.989
16:4340972:A:G	L80S	0.988
16:4341417:G:T	A59E	0.988

dbSNP variants (sampled 300 via entrez): RS1000072235 (16:4344003 C>A,T), RS1000088603 (16:4348904 A>G), RS1000145224 (16:4349075 C>T), RS1000159135 (16:4340000 C>T), RS1000230839 (16:4339853 G>A), RS1000390120 (16:4350904 T>C), RS1000425036 (16:4344173 T>C,G), RS1000540370 (16:4340766 G>A), RS1000599520 (16:4340556 G>A,C), RS1001119267 (16:4350068 G>A,C), RS1001275558 (16:4341895 C>G,T), RS1001349519 (16:4348611 C>G,T), RS1001417354 (16:4352863 G>C), RS1001475353 (16:4352736 G>A), RS1001543993 (16:4343832 T>A)

Disease associations

OMIM: gene MIM:614336 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal recessive spondylometaphyseal dysplasia, Megarbane type	Strong	Autosomal recessive

Mondo (1): autosomal recessive spondylometaphyseal dysplasia, Megarbane type (MONDO:0013223)

Orphanet (0):

HPO phenotypes

44 total (30 of 44 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000239	Large fontanelles
HP:0000311	Round face
HP:0000369	Low-set ears
HP:0000445	Wide nose
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000773	Short ribs
HP:0000774	Narrow chest
HP:0000822	Hypertension
HP:0001263	Global developmental delay
HP:0001518	Small for gestational age
HP:0001522	Death in infancy
HP:0001591	Bell-shaped thorax
HP:0001640	Cardiomegaly
HP:0002002	Deep philtrum
HP:0002007	Frontal bossing
HP:0002092	Pulmonary arterial hypertension
HP:0002375	Hypokinesia
HP:0002617	Vascular dilatation
HP:0002645	Wormian bones
HP:0002657	Spondylometaphyseal dysplasia
HP:0002663	Delayed epiphyseal ossification
HP:0002750	Delayed skeletal maturation
HP:0002789	Tachypnea
HP:0002983	Micromelia
HP:0003021	Metaphyseal cupping
HP:0003026	Short long bone
HP:0003175	Hypoplastic ischia
HP:0003177	Squared iliac bones

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST006956_6	Erectile dysfunction	2.000000e-06
GCST012227_373	Hip circumference adjusted for BMI	3.000000e-11
GCST012227_374	Hip circumference adjusted for BMI	2.000000e-09
GCST012227_375	Hip circumference adjusted for BMI	3.000000e-16
GCST012229_176	Hip index	3.000000e-08
GCST012229_177	Hip index	1.000000e-08
GCST90020025_138	Waist-to-hip ratio adjusted for BMI	4.000000e-08
GCST90020025_139	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST90020027_651	Waist-hip index	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567644	Chondrodysplasia, Megarbane-Dagher-Melki Type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
Smoke	decreases expression, increases abundance	2
methylmercuric chloride	increases expression	1
bisphenol A	affects expression	1
deoxynivalenol	increases expression	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects expression, affects response to substance	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
ICG 001	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Ethanol	increases expression, affects cotreatment, increases abundance	1
Arsenic	decreases methylation, increases abundance	1
Atrazine	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Ozone	affects expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	increases abundance, increases expression, affects cotreatment	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	increases expression	1
Metals, Heavy	decreases methylation, increases abundance	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases abundance, increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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