MELTF

Summary

MELTF (melanotransferrin, HGNC:7037) is a protein-coding gene on chromosome 3q29, encoding Melanotransferrin (P08582). Involved in iron cellular uptake.

The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants.

Source: NCBI Gene 4241 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total — 1 pathogenic
• MANE Select transcript: NM_005929

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7037
Approved symbol	MELTF
Name	melanotransferrin
Location	3q29
Locus type	gene with protein product
Status	Approved
Aliases	CD228, FLJ38863, MAP97, MGC4856, MTF1, MTf
Ensembl gene	ENSG00000163975
Ensembl biotype	protein_coding
OMIM	155750
Entrez	4241

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 5 retained_intron

ENST00000296350, ENST00000296351, ENST00000439320, ENST00000445739, ENST00000469783, ENST00000473501, ENST00000489445, ENST00000491399, ENST00000696016, ENST00000937761, ENST00000937762, ENST00000937763, ENST00000955417

RefSeq mRNA: 2 — MANE Select: NM_005929 NM_005929, NM_033316

CCDS: CCDS3325, CCDS3326

Canonical transcript exons

ENST00000296350 — 16 exons

Exon	Start	End
ENSE00001080194	197010698	197010794
ENSE00001080196	197024303	197024485
ENSE00001080199	197015365	197015516
ENSE00001080200	197026660	197026759
ENSE00001080201	197021404	197021471
ENSE00001080202	197009618	197009812
ENSE00001080203	197006549	197006736
ENSE00001080204	197003901	197004099
ENSE00001080205	197017103	197017290
ENSE00001080206	197001740	197003451
ENSE00001080207	197016189	197016369
ENSE00001080208	197008657	197008724
ENSE00001080209	197022957	197023113
ENSE00001080210	197008809	197008965
ENSE00001490002	197029654	197029817
ENSE00001758013	197027756	197027910

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 99.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2821 / max 169.5304, expressed in 1467 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46400	7.6237	1377
46395	0.5108	219
46396	0.0653	24
46397	0.0504	19
46398	0.0166	8
46399	0.0153	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	99.25	gold quality
parotid gland	UBERON:0001831	97.76	gold quality
decidua	UBERON:0002450	95.53	gold quality
tendon of biceps brachii	UBERON:0008188	95.48	gold quality
renal medulla	UBERON:0000362	95.03	gold quality
parietal pleura	UBERON:0002400	92.75	gold quality
cartilage tissue	UBERON:0002418	91.53	gold quality
endothelial cell	CL:0000115	90.84	gold quality
amniotic fluid	UBERON:0000173	88.91	gold quality
germinal epithelium of ovary	UBERON:0001304	88.46	gold quality
upper leg skin	UBERON:0004262	88.26	gold quality
sperm	CL:0000019	87.11	gold quality
pleura	UBERON:0000977	85.49	gold quality
saliva-secreting gland	UBERON:0001044	85.05	gold quality
seminal vesicle	UBERON:0000998	84.31	gold quality
nipple	UBERON:0002030	84.06	gold quality
male germ cell	CL:0000015	83.95	gold quality
skin of leg	UBERON:0001511	83.03	gold quality
left uterine tube	UBERON:0001303	82.68	gold quality
pericardium	UBERON:0002407	82.01	gold quality
skin of abdomen	UBERON:0001416	81.97	gold quality
zone of skin	UBERON:0000014	81.90	gold quality
skin of hip	UBERON:0001554	81.88	gold quality
minor salivary gland	UBERON:0001830	81.88	gold quality
metanephros cortex	UBERON:0010533	81.60	gold quality
mammary duct	UBERON:0001765	81.26	gold quality
trachea	UBERON:0003126	81.25	gold quality
synovial joint	UBERON:0002217	80.93	gold quality
mouth mucosa	UBERON:0003729	80.74	gold quality
mammary gland	UBERON:0001911	80.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.15

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, FOS, JUN, MYC

miRNA regulators (miRDB)

44 targeting MELTF, 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-4534	99.99	66.58	1907
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3960	99.41	66.11	96
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-4685-3P	97.55	67.35	1255
HSA-MIR-6787-5P	97.54	63.85	457
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-10398-5P	97.12	64.94	1051
HSA-MIR-10400-5P	96.91	66.00	56

Literature-anchored findings (GeneRIF, showing 22)

• The human genome contains a second melanotransferrin gene (MTf2). There are two isoforms of melanotransferrin. (PMID:11852110)
• its ability to donate 59Fe to SK-Mel-28 melanoma cells and other cell types (PMID:12230555)
• This melanoma-associated marker was detected in melanoma cell lines. (PMID:12710945)
• membrane-bound and soluble p97 affect the migration capacity of endothelial and melanoma cells and suggest that p97 could be involved in the regulation of plasminogen activation by interacting with pro-uPA and plasminogen. (PMID:12750156)
• Serum melanotransferrin exists in various conformations depending on the binding of bivalent cations or following post-translational modification; serum melanotransferrin levels are unchanged in subjects with Alzheimer’s disease. (PMID:12809550)
• The distribution of MTf and its splice variants may provide clues to their possible biological roles in melanoma and other tumors. (PMID:15716025)
• melanotransferrin has a role in cell proliferation and tumorigenesis (PMID:16704991)
• Anti-angiogenic properties of soluble melanotransferrin may result from local overstimulation of plasminogen activation by tissue plasminogen activator, thus leading to subsequent degradation of the fibronectin matrix and endothelial cell detachment. (PMID:16713448)
• Altogether, these findings strongly suggest that MTf overexpression in melanoma cells contributes to tumor progression by stimulating plasmin generation as well as cell migration and invasion. (PMID:17196552)
• HMB-45 (melanoma-associated antigen p97) and Melan-A combined were positive in 100% of the renal angiomyolipomas (PMID:17227112)
• Novel molecular targets directly or indirectly regulated by MTf and the potential pathways involved in its function, including modulation of proliferation. (PMID:17449903)
• this review discusses the studies that have demonstrated that melanotransferrin is not involved in iron metabolism, but plays a vital role in melanoma cell proliferation and tumorigenesis. (PMID:17452986)
• results suggest a Plg-mediated internalization mechanism for the clearance of sMTf via annexin II and LRP (PMID:17570828)
• Biochemical and spectroscopic studies of MTF1 are reported. (PMID:18691669)
• PC3 tumors are sustained by a small number of tumor-initiating cells with stem-like characteristics, including strong self-renewal and pro-angiogenic capability and marked by the expression pattern FAM65Bhigh/MFI2low/LEF1low. (PMID:21190562)
• Melanotransferrin is a serological marker of colorectal cancer by secretome analysis and quantitative proteomics. (PMID:25216327)
• High MELTF mRNA expression was associated with Gastric Cancer. (PMID:31704840)
• The Role of Melanotransferrin (CD228) in the regulation of the differentiation of Human Bone Marrow-Derived Mesenchymal Stem Cells (hBM-MSC). (PMID:33746574)
• The hypoxia sensitive metal transcription factor MTF-1 activates NCX1 brain promoter and participates in remote postconditioning neuroprotection in stroke. (PMID:33931586)
• MELTF Might Regulate Ferroptosis, Pyroptosis, and Autophagy in Platelet-Rich Plasma-Mediated Endometrial Epithelium Regeneration. (PMID:36303086)
• The E2F1/MELTF axis fosters the progression of lung adenocarcinoma by regulating the Notch signaling pathway. (PMID:37820570)
• Characterizing ATP processing by the AAA+ protein p97 at the atomic level. (PMID:38326645)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	meltf	ENSDARG00000075159
mus_musculus	Meltf	ENSMUSG00000022780
rattus_norvegicus	Meltf	ENSRNOG00000001739

Paralogs (3): LTF (ENSG00000012223), TF (ENSG00000091513), SRPRB (ENSG00000144867)

Protein

Protein identifiers

Melanotransferrin — P08582 (reviewed: P08582)

Alternative names: Melanoma-associated antigen p97

All UniProt accessions (4): A0A8Q3WLY9, C9JVN1, P08582, Q53XS6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc.

Subcellular location. Cell membrane.

Tissue specificity. Found predominantly in human melanomas and in certain fetal tissues; also found in liver, epithelium, umbilical chord, placenta and sweat gland ducts.

Similarity. Belongs to the transferrin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P08582-1	1	yes
P08582-2	2

RefSeq proteins (2): NP_005920, NP_201573 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001156	Transferrin-like_dom	Domain
IPR016357	Transferrin	Family
IPR018195	Transferrin_Fe_BS	Binding_site

Pfam: PF00405

UniProt features (101 total): strand 34, helix 27, binding site 12, disulfide bond 6, turn 6, glycosylation site 3, splice variant 2, domain 2, sequence variant 2, signal peptide 1, chain 1, modified residue 1, lipid moiety-binding region 1, propeptide 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6XR0	X-RAY DIFFRACTION	3.06

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P08582-F1	89.80	0.79

Antibody-complex structures (SAbDab): 1 — 6XR0

Functional residue map

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

Ligand- & substrate-binding residues (12): 138; 139; 210; 279; 421; 451; 556; 625; 78; 107; 132; 136

Post-translational modifications (2): 462, 709

Disulfide bonds (6): 26–63, 36–54, 130–216, 172–189, 186–199, 257–271

Glycosylation sites (3): 38, 135, 515

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 475 (showing top): GOBP_POSITIVE_REGULATION_OF_PROTEIN_MATURATION, GOBP_RESPONSE_TO_ZINC_ION, YAGI_AML_WITH_INV_16_TRANSLOCATION, GGGNRMNNYCAT_UNKNOWN, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_GROWTH, GOCC_CELL_SURFACE, IVANOVA_HEMATOPOIESIS_MATURE_CELL, BROWNE_HCMV_INFECTION_12HR_UP, GGGTGGRR_PAX4_03, GOBP_IRON_ION_TRANSPORT, GOBP_REGULATION_OF_EXTRACELLULAR_MATRIX_ORGANIZATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_RESPONSE_TO_METAL_ION, GOBP_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION

GO Biological Process (5): iron ion transport (GO:0006826), positive regulation of plasminogen activation (GO:0010756), positive regulation of extracellular matrix disassembly (GO:0090091), negative regulation of substrate adhesion-dependent cell spreading (GO:1900025), monoatomic ion transport (GO:0006811)

GO Molecular Function (3): iron ion binding (GO:0005506), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (10): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), early endosome (GO:0005769), endoplasmic reticulum lumen (GO:0005788), plasma membrane (GO:0005886), cell surface (GO:0009986), recycling endosome (GO:0055037), extracellular exosome (GO:0070062), side of membrane (GO:0098552), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	2
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
endosome	2
membrane	2
transition metal ion transport	1
regulation of plasminogen activation	1
positive regulation of protein processing	1
plasminogen activation	1
regulation of extracellular matrix disassembly	1
extracellular matrix disassembly	1
positive regulation of extracellular matrix organization	1
negative regulation of cell-substrate adhesion	1
substrate adhesion-dependent cell spreading	1
regulation of substrate adhesion-dependent cell spreading	1
transport	1
transition metal ion binding	1
binding	1
cation binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cell periphery	1
extracellular vesicle	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

860 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MELTF	PLG	P00747	857
MELTF	TFRC	P02786	775
MELTF	LRP2	P98164	590
MELTF	THTPA	Q9BU02	464
MELTF	WDR53	Q7Z5U6	464
MELTF	PIGZ	Q86VD9	454
MELTF	H3BSS0	H3BSS0	448
MELTF	VTN	P01141	426
MELTF	SLC11A2	P49281	419
MELTF	C2orf78	A6NCI8	415
MELTF	IGFBP1	P08833	407
MELTF	SMCO1	Q147U7	405
MELTF	IL6	P05231	401
MELTF	AHSG	P02765	382
MELTF	FGG	P02679	375

IntAct

47 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	MELTF	psi-mi:“MI:0915”(physical association)	0.550
PAEP	PROS1	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
MELTF	PDIA3	psi-mi:“MI:0408”(disulfide bond)	0.440
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
MELTF	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.370
MELTF	HPGDS	psi-mi:“MI:0915”(physical association)	0.370
RBCK1	UMAD1	psi-mi:“MI:0914”(association)	0.350
NFE2L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
NFE2L2	MYO1D	psi-mi:“MI:0914”(association)	0.350
PIK3CA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	MANBA	psi-mi:“MI:0914”(association)	0.350
MELTF	TUBA4A	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LYPD4	POTEF	psi-mi:“MI:0914”(association)	0.350
EDN3	POTEF	psi-mi:“MI:0914”(association)	0.350
ELSPBP1	QSOX1	psi-mi:“MI:0914”(association)	0.350
PRG2	QSOX1	psi-mi:“MI:0914”(association)	0.350
SDF2L1	MANBA	psi-mi:“MI:0914”(association)	0.350
TRGV3	MANBA	psi-mi:“MI:0914”(association)	0.350
GGH	MANBA	psi-mi:“MI:0914”(association)	0.350
CBLN4	AGRN	psi-mi:“MI:0914”(association)	0.350
NXPH3	ACACB	psi-mi:“MI:0914”(association)	0.350

BioGRID (81): HPGDS (Two-hybrid), NOTCH2NL (Two-hybrid), MFI2 (Affinity Capture-MS), MFI2 (Affinity Capture-MS), MFI2 (Affinity Capture-MS), MFI2 (Synthetic Lethality), MFI2 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP1-1 (Two-hybrid), CYSRT1 (Two-hybrid), NOTCH2NL (Two-hybrid), NBPF19 (Two-hybrid), MFI2 (Affinity Capture-MS), MFI2 (Affinity Capture-MS), MFI2 (Proximity Label-MS)

ESM2 similar proteins: A2A863, A5A6I6, A5Z1X6, B0FYY4, E7E2N8, K9IMD0, O77698, O77811, O93429, O97490, P02787, P02788, P02789, P07228, P08071, P08582, P09571, P12346, P12606, P12607, P14632, P19134, P20233, P22297, P24627, P27425, P31226, P53712, P54996, P56410, P79815, P79819, P80426, P80429, Q02942, Q26643, Q27874, Q29443, Q29477, Q29492

Diamond homologs: A5A6I6, K9IMD0, O77698, O77811, O93429, O97490, P02787, P02788, P02789, P08071, P08582, P09571, P12346, P14632, P19134, P20233, P24627, P27425, P31226, P56410, P79815, P79819, P80426, P80429, Q02942, Q0VIL3, Q29443, Q29477, Q29545, Q501K5, Q6PGT3, Q92079, Q921I1, Q9DBD0, Q9IBF7, Q9R0R1, Q9TUM0, Q9VTZ5, P22297, Q26643

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
267260	GRCh37/hg19 3q29(chr3:195756054-197344665)x1	Pathogenic

SpliceAI

5451 predictions. Top by Δscore:

Variant	Effect	Δscore
1:37823705:CAAA:C	donor_loss	1.0000
1:37823706:AAAC:A	donor_loss	1.0000
1:37823707:AAC:A	donor_loss	1.0000
1:37823708:AC:A	donor_loss	1.0000
1:37823709:C:CT	donor_loss	1.0000
1:37823709:CCTGT:C	donor_gain	1.0000
1:37823727:T:TA	donor_gain	1.0000
1:37823811:GT:G	acceptor_gain	1.0000
1:37823813:C:CC	acceptor_gain	1.0000
1:37832243:A:AC	donor_gain	1.0000
1:37832244:C:CC	donor_gain	1.0000
1:37832244:CCGTA:C	donor_gain	1.0000
1:37832323:C:CC	acceptor_gain	1.0000
1:37832323:CT:C	acceptor_loss	1.0000
1:37832324:T:A	acceptor_loss	1.0000
1:37835076:CACC:C	donor_loss	1.0000
1:37835077:ACCTC:A	donor_loss	1.0000
1:37835078:C:CT	donor_loss	1.0000
1:37835078:CCT:C	donor_gain	1.0000
1:37835212:TCAC:T	acceptor_gain	1.0000
1:37835213:CAC:C	acceptor_gain	1.0000
1:37835213:CACC:C	acceptor_gain	1.0000
1:37835214:AC:A	acceptor_gain	1.0000
1:37835214:ACCTG:A	acceptor_loss	1.0000
1:37835215:CC:C	acceptor_gain	1.0000
1:37835216:C:CC	acceptor_gain	1.0000
1:37835216:CTG:C	acceptor_loss	1.0000
1:37835217:T:A	acceptor_loss	1.0000
1:37835664:AACTC:A	donor_loss	1.0000
1:37835665:ACTCA:A	donor_loss	1.0000

AlphaMissense

4791 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:197024372:A:G	W140R	0.997
3:197024372:A:T	W140R	0.997
3:197017191:C:G	C271S	0.996
3:197017192:A:T	C271S	0.996
3:197024370:C:A	W140C	0.996
3:197024370:C:G	W140C	0.996
3:197024401:C:G	C130S	0.996
3:197024402:A:T	C130S	0.996
3:197021439:A:C	F226C	0.995
3:197024400:G:C	C130W	0.995
3:197024402:A:G	C130R	0.995
3:197015408:C:G	C397S	0.994
3:197015409:A:T	C397S	0.994
3:197015462:C:G	C379S	0.994
3:197015463:A:T	C379S	0.994
3:197017239:A:G	L255P	0.994
3:197021469:C:G	C216S	0.994
3:197021470:A:T	C216S	0.994
3:197023086:C:G	C172S	0.994
3:197023087:A:T	C172S	0.994
3:197024401:C:T	C130Y	0.994
3:197024458:G:T	A111D	0.994
3:197023035:C:G	C189S	0.993
3:197023036:A:T	C189S	0.993
3:197023085:G:C	C172W	0.993
3:197023086:C:T	C172Y	0.993
3:197017192:A:G	C271R	0.992
3:197017233:C:G	C257S	0.992
3:197017234:A:T	C257S	0.992
3:197021470:A:G	C216R	0.992

dbSNP variants (sampled 300 via entrez): RS1000022723 (3:197006800 C>T), RS1000036512 (3:197013201 A>G), RS1000054898 (3:197014950 A>G), RS1000108195 (3:197013479 G>A,T), RS1000190221 (3:197031566 C>A), RS1000230056 (3:197009590 G>A), RS1000305724 (3:197018341 T>A,C), RS1000382853 (3:197003934 C>G), RS1000480512 (3:197029988 G>A,C), RS1000561282 (3:197030194 C>A,G), RS1000663341 (3:197022752 A>T), RS1000688237 (3:197025899 G>A), RS1000707945 (3:197009150 G>A), RS1001133279 (3:197012967 G>A,C), RS1001329235 (3:197001887 C>T)

Disease associations

OMIM: gene MIM:155750 | disease phenotypes: MIM:609425

GenCC curated gene-disease

Mondo (1): chromosome 3q29 microdeletion syndrome (MONDO:0012269)

Orphanet (1): 3q29 microdeletion syndrome (Orphanet:65286)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003542_204	Night sleep phenotypes	9.000000e-06
GCST010725_2	Malaria	8.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567184	Chromosome 3q29 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
sodium arsenite	decreases expression, increases abundance, increases expression, affects methylation	4
trichostatin A	increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Calcitriol	increases expression	2
Doxorubicin	decreases expression, increases expression	2
Formaldehyde	decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Smoke	decreases expression, increases abundance	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	increases expression	1
beta-lapachone	increases expression	1
nickel sulfate	decreases expression	1
paricalcitol	affects cotreatment, increases expression	1
entinostat	increases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	increases expression, affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Benzene	increases expression	1
Cisplatin	decreases expression	1

Cellosaurus cell lines

4 cell lines: 2 spontaneously immortalized cell line, 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_6504	MTKP 97-12	Spontaneously immortalized cell line	Male
CVCL_E6R5	Genomeditech CHO-K1 H_MELTF(CD228)	Spontaneously immortalized cell line	Female
CVCL_E6UI	Genomeditech HEK-293 H_MELTF(CD228)	Transformed cell line	Female
CVCL_E8SQ	A-375 Human CD228	Cancer cell line	Female

Clinical trials (associated diseases)

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