MFAP4

Summary

MFAP4 (microfibril associated protein 4, HGNC:7035) is a protein-coding gene on chromosome 17p11.2, encoding Microfibril-associated glycoprotein 4 (P55083). Could be involved in calcium-dependent cell adhesion or intercellular interactions.

This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 4239 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 44 total — 1 pathogenic
• MANE Select transcript: NM_002404

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7035
Approved symbol	MFAP4
Name	microfibril associated protein 4
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166482
Ensembl biotype	protein_coding
OMIM	600596
Entrez	4239

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000299610, ENST00000395592, ENST00000497081, ENST00000571210, ENST00000574313, ENST00000885623

RefSeq mRNA: 2 — MANE Select: NM_002404 NM_001198695, NM_002404

CCDS: CCDS11208, CCDS56023

Canonical transcript exons

ENST00000299610 — 6 exons

Exon	Start	End
ENSE00000000162	19383445	19384709
ENSE00001221471	19387150	19387190
ENSE00002739221	19385099	19385281
ENSE00002807914	19385358	19385454
ENSE00003582593	19386760	19386838
ENSE00003601204	19386310	19386464

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.5250 / max 1585.8089, expressed in 984 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164870	47.8502	975
164867	0.2146	110
164849	0.1718	94
164869	0.1200	56
164868	0.1148	62
164850	0.0537	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	99.73	gold quality
gall bladder	UBERON:0002110	99.68	gold quality
descending thoracic aorta	UBERON:0002345	99.68	gold quality
ascending aorta	UBERON:0001496	99.64	gold quality
thoracic aorta	UBERON:0001515	99.64	gold quality
left coronary artery	UBERON:0001626	99.50	gold quality
right lung	UBERON:0002167	99.50	gold quality
aorta	UBERON:0000947	99.49	gold quality
coronary artery	UBERON:0001621	99.48	gold quality
popliteal artery	UBERON:0002250	99.39	gold quality
tibial artery	UBERON:0007610	99.38	gold quality
decidua	UBERON:0002450	99.36	gold quality
upper lobe of left lung	UBERON:0008952	99.32	gold quality
saphenous vein	UBERON:0007318	99.25	gold quality
colonic epithelium	UBERON:0000397	99.14	gold quality
body of uterus	UBERON:0009853	98.98	gold quality
mucosa of stomach	UBERON:0001199	98.94	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.94	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.91	gold quality
endocervix	UBERON:0000458	98.90	gold quality
left uterine tube	UBERON:0001303	98.82	gold quality
right ovary	UBERON:0002118	98.80	gold quality
stromal cell of endometrium	CL:0002255	98.78	gold quality
lower esophagus	UBERON:0013473	98.65	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.65	gold quality
left ovary	UBERON:0002119	98.63	gold quality
upper lobe of lung	UBERON:0008948	98.63	gold quality
blood vessel layer	UBERON:0004797	98.57	gold quality
omental fat pad	UBERON:0010414	98.45	gold quality
peritoneum	UBERON:0002358	98.44	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 27.

Experiment	Marker?	Max mean expression
E-MTAB-9906	yes	3211.41
E-GEOD-130473	yes	3206.03
E-MTAB-8221	yes	2738.59
E-MTAB-8142	yes	2042.87
E-GEOD-124472	yes	1287.73
E-MTAB-10485	yes	1285.09
E-MTAB-10885	yes	1214.32
E-HCAD-11	yes	1190.41
E-GEOD-114530	yes	1131.41
E-GEOD-134144	yes	1106.22
E-HCAD-10	yes	1032.67
E-GEOD-109979	yes	837.11
E-GEOD-135922	yes	773.60
E-ANND-5	yes	689.55
E-MTAB-9154	yes	606.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting MFAP4, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-762	99.58	66.61	1994

Literature-anchored findings (GeneRIF, showing 25)

• Microfibrillar associated protein 4 binds pulmonary surfactant protein A (SP-A) and colocalizes with SP-A in the extracellular matrix of the lung. (PMID:16867155)
• skin with enhanced MFAP-4 expression was protected from UVB-induced photodamage/photoaging accompanied by the prevention of ECM degradation and aggravated elasticity (PMID:22355679)
• The findings support the biomarker potential of systemic MFAP4, with elevated levels in the serum reflecting pathological processes involving ECM remodeling and degradation. (PMID:24324779)
• Serum MFAP4 varies in groups of patients with different cardiovascular conditions. (PMID:24349233)
• plasma MFAP4 was significantly increased among patients with a previous diagnosis of liver disease or congestive heart failure compared to patients with other diagnoses. (PMID:26460565)
• MFAP4 regulates integrin alphaVbeta3-induced VSMC proliferation and migration, as well as monocyte chemotaxis, and accelerates neointimal hyperplasia after vascular injury. (PMID:26564819)
• Data suggest that MFAP4 specifically binds tropoelastin and fibrillin-1/-2, as well as elastin cross-linking amino acid desmosine; MFAP4 co-localizes with fibrillin-1-positive fibers; MFAP4 actively promotes tropoelastin self-assembly. (PMID:26601954)
• These studies have identified and validated new factors enriched in juvenile chondrocytes as compared to adult chondrocytes including secreted extracellular matrix factors chordin-like 1 (CHRDL1) and microfibrillar-associated protein 4 (MFAP4). (PMID:26955889)
• the applicability of MFAP4 as a novel serum biomarker for assessment of hepatic fibrosis and identification of high-risk patients with severe fibrosis stages in hepatitis C, is reported. (PMID:27378383)
• No association between pMFAP4 and macrovascular vascular complications was found. However, high levels of pMFAP4 correlated independently with diabetic neuropathy. (PMID:28039584)
• the relationship between serum MFAP4 (sMFAP4) and symptomatic peripheral artery disease outcomes, was investigated. (PMID:29884190)
• MFAP4 was frequently downregulated in the most human cancers and high mRNA expression of MFAP4 significantly correlated with better overall survival in breast cancer. DNA hypermethylation in the promoter of MFAP4 decreased its mRNA expression. MFAP4 strongly associated with pathway in impairment and alteration of the elastic fibers (PMID:30089404)
• MFAP4 was present in synovial biopsies from both rheumatoid arthritis and osteoarthritis patients, particularly prominent in deep arterioles where it colocalized with elastin. The findings may suggest that MFAP4 is involved in adaptive vessel wall remodeling associated with chronic joint disease. (PMID:31233243)
• ResultS suggest that microfibril associated protein 4 (MFAP4) plays a role in the pathogenesis of asthma. (PMID:31251481)
• MFAP4 increases from diagnostic baseline despite intensive treatment but does not associate with synovitis at early or late stages of rheumatoid arthritis (PMID:31498068)
• High plasma microfibrillar-associated protein 4 is associated with reduced surgical repair in abdominal aortic aneurysms. (PMID:31784280)
• Relationship between Microfibrillar-Associated Protein 4 Levels and Subclinical Myocardial Damage in Chronic Kidney Disease. (PMID:32268335)
• The fibrinogen C-terminal domain is seldom C-mannosylated but its C-mannosylation is important for the secretion of microfibril-associated glycoprotein 4. (PMID:32442478)
• Microfibril associated protein 4 (MFAP4) is a carrier of the tumor associated carbohydrate sialyl-Lewis x (sLe(x)) in pancreatic adenocarcinoma. (PMID:33038510)
• Human Microfibrillar-Associated Protein 4 (MFAP4) Gene Promoter: A TATA-Less Promoter That Is Regulated by Retinol and Coenzyme Q10 in Human Fibroblast Cells. (PMID:33182307)
• Exploration of the Important Role of Microfibril-Associated Protein 4 Gene in Oral Squamous Cell Carcinoma. (PMID:34210950)
• Microfibrillar-associated protein 4 in health and disease. (PMID:35644509)
• Tumor-suppressive role of microfibrillar associated protein 4 and its clinical significance as prognostic factor and diagnostic biomarker in hepatocellular carcinoma. (PMID:36647950)
• Presence of microfibril associated glycoprotein 4 and type V collagen and the possible absence of fibrillin-1 in bead-like structures in elastofibroma. (PMID:37880056)
• Microfibril-associated glycoprotein 4 forms octamers that mediate interactions with elastogenic proteins and cells. (PMID:38740766)

Cross-species orthologs

19 orthologs

Organism	Symbol	Gene ID
danio_rerio	mfap4.13	ENSDARG00000038681
danio_rerio	mfap4.4	ENSDARG00000038682
danio_rerio	mfap4.12	ENSDARG00000038683
danio_rerio	mfap4.2	ENSDARG00000088745
danio_rerio	mfap4.3	ENSDARG00000089667
danio_rerio	mfap4.5	ENSDARG00000090557
danio_rerio	mfap4.1	ENSDARG00000090783
danio_rerio	mfap4.7	ENSDARG00000092806
danio_rerio	mfap4.8	ENSDARG00000093877
danio_rerio	mfap4.11	ENSDARG00000094408
danio_rerio	mfap4.6	ENSDARG00000094845
danio_rerio	mfap4.9	ENSDARG00000095746
danio_rerio	mfap4.10	ENSDARG00000096586
danio_rerio		ENSDARG00000110574
danio_rerio	mfap4.14	ENSDARG00000111491
danio_rerio		ENSDARG00000115195
danio_rerio	MFAP4	ENSDARG00000116066
mus_musculus	Mfap4	ENSMUSG00000042436
rattus_norvegicus	Mfap4	ENSRNOG00000045683

Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), FIBCD1 (ENSG00000130720), ANGPTL6 (ENSG00000130812), ANGPTL3 (ENSG00000132855), ANGPTL2 (ENSG00000136859), FCN3 (ENSG00000142748), FNDC7 (ENSG00000143107), ANGPT1 (ENSG00000154188), FCN2 (ENSG00000160339), ANGPTL4 (ENSG00000167772), TNXB (ENSG00000168477), FGG (ENSG00000171557), FGA (ENSG00000171560), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)

Protein

Protein identifiers

Microfibril-associated glycoprotein 4 — P55083 (reviewed: P55083)

All UniProt accessions (2): P55083, K7ES70

UniProt curated annotations — full annotation on UniProt →

Function. Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance.

Subunit / interactions. Homodimer. Can also form higher oligomers. Interacts with FBN1, FBN2 and LOX. Interacts with COL1A1 in a Ca (2+)-dependent manner. Interacts with ELN in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Isoforms (2)

UniProt ID	Names	Canonical?
P55083-1	1	yes
P55083-2	2

RefSeq proteins (2): NP_001185624, NP_002395* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002181	Fibrinogen_a/b/g_C_dom	Domain
IPR014716	Fibrinogen_a/b/g_C_1	Homologous_superfamily
IPR036056	Fibrinogen-like_C	Homologous_superfamily
IPR050373	Fibrinogen_C-term_domain	Family

Pfam: PF00147

UniProt features (36 total): strand 14, helix 7, mutagenesis site 4, turn 2, glycosylation site 2, signal peptide 1, chain 1, sequence conflict 1, domain 1, short sequence motif 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7ZMK	X-RAY DIFFRACTION	3.4
8UN7	ELECTRON MICROSCOPY	3.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55083-F1	91.04	0.86

Antibody-complex structures (SAbDab): 1 — 7ZMK

Functional residue map

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

Glycosylation sites (2): 87, 137

Mutagenesis-validated functional residues (4):

Position	Phenotype
241	significant reduction in its interaction with col1a1 and eln.
203	no effect on its interaction with col1a1 and eln.
203	moderate reduction in its interaction with col1a1. significant reduction in its interaction with eln.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2129379	Molecules associated with elastic fibres
R-HSA-1474244	Extracellular matrix organization
R-HSA-1566948	Elastic fibre formation

MSigDB gene sets: 186 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_EXTRACELLULAR_MATRIX_ASSEMBLY, GOBP_UV_PROTECTION, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, ZHAN_MULTIPLE_MYELOMA_CD1_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, HEN1_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_RESPONSE_TO_UV, GOBP_RESPONSE_TO_RADIATION

GO Biological Process (6): cell adhesion (GO:0007155), UV protection (GO:0009650), regulation of collagen metabolic process (GO:0010712), elastic fiber assembly (GO:0048251), cellular response to UV-B (GO:0071493), supramolecular fiber organization (GO:0097435)

GO Molecular Function (2): extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (5): microfibril (GO:0001527), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), elastic fiber (GO:0071953)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Elastic fibre formation	1
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
supramolecular fiber	2
cellular process	1
response to UV	1
regulation of metabolic process	1
collagen metabolic process	1
extracellular matrix assembly	1
supramolecular fiber organization	1
response to UV-B	1
cellular response to UV	1
cellular component organization	1
structural molecule activity	1
extracellular matrix	1
binding	1
elastic fiber	1
cellular anatomical structure	1
external encapsulating structure	1
non-collagenous component of interstitial matrix	1

Protein interactions and networks

STRING

1376 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MFAP4	ELN	P15502	987
MFAP4	FBN1	P35555	842
MFAP4	COL1A1	P02452	607
MFAP4	LUM	P51884	603
MFAP4	COL14A1	Q05707	576
MFAP4	MPEG1	Q2M385	571
MFAP4	LTBP4	Q8N2S1	553
MFAP4	ZCCHC24	Q8N2G6	543
MFAP4	TIMP1	P01033	537
MFAP4	EFEMP1	Q12805	534
MFAP4	MFAP2	P55001	533
MFAP4	FBLN5	Q9UBX5	528
MFAP4	ADAMTSL2	Q86TH1	492
MFAP4	MMP7	P09237	489
MFAP4	IGF1	P01343	485

IntAct

17 interactions, top by confidence:

A	B	Type	Score
OCLN	DNAJC13	psi-mi:“MI:0914”(association)	0.530
MFAP4	FBN1	psi-mi:“MI:0915”(physical association)	0.490
FBN1	MFAP4	psi-mi:“MI:0915”(physical association)	0.490
TNFSF13B	HEATR1	psi-mi:“MI:0914”(association)	0.350
TEX101	NDUFA4	psi-mi:“MI:0914”(association)	0.350
SHANK3	IGKV3D-15	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
MFAP4	CRLF1	psi-mi:“MI:0914”(association)	0.350
MFAP4	PEX1	psi-mi:“MI:0914”(association)	0.350
MFAP4	QSOX1	psi-mi:“MI:0914”(association)	0.350
MFAP4	PROS1	psi-mi:“MI:0914”(association)	0.350
HTR7	WBP4	psi-mi:“MI:0914”(association)	0.350
MFAP4	glgA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (141): MFAP4 (Affinity Capture-MS), MFAP4 (Affinity Capture-RNA), MFAP4 (Affinity Capture-MS), MFAP4 (Affinity Capture-MS), MFAP4 (Affinity Capture-MS), MFAP4 (Affinity Capture-MS), RDH13 (Affinity Capture-MS), VPS35 (Affinity Capture-MS), CSTF1 (Affinity Capture-MS), GCA (Affinity Capture-MS), MFAP4 (Reconstituted Complex), MFAP4 (Reconstituted Complex), TBC1D5 (Affinity Capture-MS), AES (Affinity Capture-MS), SSBP2 (Affinity Capture-MS)

ESM2 similar proteins: D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, O00602, O43827, O70165, O70497, O95841, P02675, P02679, P02680, P04115, P12799, P12804, P14480, P17634, P19477, P55083, P55918, P57756, P85031, P86239, Q08830, Q0P4P2, Q14314, Q15485, Q1RMR1, Q29041, Q29042, Q29RY7, Q3SZZ7, Q5EA66, Q5I2E5, Q5M8C6, Q5XK91, Q640P2, Q6AX44, Q71KU9

Diamond homologs: A0A8J8, A2AV25, D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, E9PV24, O00602, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O70165, O70497, O75636, O77802, O93526, O95841, P02671, P02675, P02676, P02678, P02679, P02680, P04115, P06399, P10039, P12799, P12804, P14448, P14480, P17634, P19477, P21520, P22105, P24821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	33
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	Pathogenic

SpliceAI

931 predictions. Top by Δscore:

Variant	Effect	Δscore
17:19385093:TTATA:T	donor_loss	1.0000
17:19385094:TATA:T	donor_loss	1.0000
17:19385095:ATACC:A	donor_loss	1.0000
17:19385096:TACCT:T	donor_loss	1.0000
17:19385110:T:TA	donor_gain	1.0000
17:19385115:AAAG:A	donor_gain	1.0000
17:19385143:T:TA	donor_gain	1.0000
17:19385146:T:TA	donor_gain	1.0000
17:19385189:A:AC	donor_gain	1.0000
17:19385190:C:CC	donor_gain	1.0000
17:19385277:CAGCC:C	acceptor_gain	1.0000
17:19385278:AGCC:A	acceptor_gain	1.0000
17:19385279:GCC:G	acceptor_gain	1.0000
17:19385280:CC:C	acceptor_gain	1.0000
17:19385280:CCC:C	acceptor_gain	1.0000
17:19385281:CC:C	acceptor_gain	1.0000
17:19385282:C:CC	acceptor_gain	1.0000
17:19385282:C:T	acceptor_gain	1.0000
17:19385353:CTT:C	donor_loss	1.0000
17:19385354:TTACC:T	donor_loss	1.0000
17:19385356:A:AC	donor_gain	1.0000
17:19385356:A:C	donor_loss	1.0000
17:19385356:AC:A	donor_gain	1.0000
17:19385357:C:CA	donor_loss	1.0000
17:19385357:C:CC	donor_gain	1.0000
17:19385357:CC:C	donor_gain	1.0000
17:19385357:CCCAG:C	donor_gain	1.0000
17:19385360:AG:A	donor_gain	1.0000
17:19385367:A:AC	donor_gain	1.0000
17:19385368:C:CC	donor_gain	1.0000

AlphaMissense

1666 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:19384525:C:A	W235C	0.999
17:19384525:C:G	W235C	0.999
17:19384527:A:G	W235R	0.999
17:19384527:A:T	W235R	0.999
17:19384675:G:C	F185L	0.999
17:19384675:G:T	F185L	0.999
17:19384676:A:G	F185S	0.999
17:19384677:A:G	F185L	0.999
17:19385386:G:C	F103L	0.999
17:19385386:G:T	F103L	0.999
17:19385388:A:G	F103L	0.999
17:19386341:C:G	C70S	0.999
17:19386342:A:T	C70S	0.999
17:19384516:C:A	W238C	0.998
17:19384516:C:G	W238C	0.998
17:19384608:A:G	W208R	0.998
17:19384608:A:T	W208R	0.998
17:19384634:C:G	C199S	0.998
17:19384634:C:T	C199Y	0.998
17:19384635:A:T	C199S	0.998
17:19384676:A:C	F185C	0.998
17:19385233:C:G	R129P	0.998
17:19385236:A:G	L128P	0.998
17:19385364:A:G	W111R	0.998
17:19385364:A:T	W111R	0.998
17:19385407:C:A	W96C	0.998
17:19385407:C:G	W96C	0.998
17:19385419:G:C	F92L	0.998
17:19385419:G:T	F92L	0.998
17:19385421:A:G	F92L	0.998

dbSNP variants (sampled 300 via entrez): RS1000425702 (17:19387726 G>A), RS1001019393 (17:19386576 A>G,T), RS1001508376 (17:19385894 G>A), RS1002007626 (17:19387658 C>T), RS1002704266 (17:19388758 T>C,G), RS1003007490 (17:19386710 C>G), RS1003562087 (17:19388478 A>G,T), RS1004905136 (17:19386475 G>A), RS1005165340 (17:19387396 G>A), RS1005191529 (17:19387713 A>G), RS1005279632 (17:19386208 C>A,T), RS1005432759 (17:19384371 CAGCAGA>C), RS1005793369 (17:19384162 G>C), RS1006359683 (17:19389184 A>G), RS1006746530 (17:19388206 G>A,C)

Disease associations

OMIM: gene MIM:600596 | 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
GCST011011_56	Youthful appearance (self-reported)	8.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, affects cotreatment	3
Valproic Acid	affects expression, decreases expression	3
Doxorubicin	affects expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
kojic acid	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
jinfukang	decreases expression, affects cotreatment	1
incobotulinumtoxinA	increases expression	1
Dasatinib	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arbutin	decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Calcitriol	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects cotreatment, increases expression	1
Cytarabine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methotrexate	decreases expression	1
Nickel	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9K6	Ubigene HEK293 MFAP4 KO	Transformed cell line	Female
CVCL_ZJ80	HT1080-MFAP4 wt-MH	Cancer cell line	Male
CVCL_ZJ81	HT1080-MFAP4 W235F-MH	Cancer cell line	Male

Clinical trials (associated diseases)

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