MACF1

Summary

MACF1 (microtubule actin crosslinking factor 1, HGNC:13664) is a protein-coding gene on chromosome 1p34.3, encoding Microtubule-actin cross-linking factor 1, isoforms 6/7 (O94854).

This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined.

Source: NCBI Gene 23499 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lissencephaly 9 with complex brainstem malformation (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 39
• Clinical variants (ClinVar): 1,957 total — 4 pathogenic, 12 likely-pathogenic
• Phenotypes (HPO): 49
• MANE Select transcript: NM_001394062

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13664
Approved symbol	MACF1
Name	microtubule actin crosslinking factor 1
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776, Lnc-PMIF
Ensembl gene	ENSG00000127603
Ensembl biotype	protein_coding
OMIM	608271
Entrez	23499

Gene structure

Transcript identifiers

Ensembl transcripts: 58 — 24 retained_intron, 20 protein_coding, 10 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000289893, ENST00000360115, ENST00000361689, ENST00000372915, ENST00000372925, ENST00000422234, ENST00000442046, ENST00000446276, ENST00000462103, ENST00000462496, ENST00000467673, ENST00000469366, ENST00000469490, ENST00000472385, ENST00000473843, ENST00000476350, ENST00000480624, ENST00000484393, ENST00000484793, ENST00000485063, ENST00000494012, ENST00000496360, ENST00000496804, ENST00000497807, ENST00000497964, ENST00000524432, ENST00000528611, ENST00000530262, ENST00000530275, ENST00000564288, ENST00000567887, ENST00000602421, ENST00000602528, ENST00000671089, ENST00000672812, ENST00000673706, ENST00000673926, ENST00000673980, ENST00000683517, ENST00000686067, ENST00000686260, ENST00000686657, ENST00000686687, ENST00000686941, ENST00000687271, ENST00000687885, ENST00000687997, ENST00000688212, ENST00000688426, ENST00000688822, ENST00000689726, ENST00000689911, ENST00000690080, ENST00000690939, ENST00000691623, ENST00000693209, ENST00000693392, ENST00000693546

RefSeq mRNA: 3 — MANE Select: NM_001394062 NM_001394062, NM_001397473, NM_012090

CCDS: CCDS435, CCDS90919

Canonical transcript exons

ENST00000564288 — 101 exons

Exon	Start	End
ENSE00001041407	39437777	39438008
ENSE00001079475	39340804	39340953
ENSE00001079482	39340502	39340717
ENSE00001079485	39346977	39347210
ENSE00001079498	39337182	39337331
ENSE00001217237	39297620	39297745
ENSE00001218134	39300210	39300362
ENSE00001458939	39469547	39469615
ENSE00001594816	39442714	39442911
ENSE00001595626	39447692	39447898
ENSE00001599247	39435558	39435761
ENSE00001599839	39387187	39388658
ENSE00001612539	39378461	39378523
ENSE00001615446	39432535	39432654
ENSE00001621722	39292766	39292843
ENSE00001623366	39458370	39458490
ENSE00001632309	39434414	39434632
ENSE00001633058	39283189	39283301
ENSE00001633755	39459086	39459249
ENSE00001641956	39285604	39285758
ENSE00001643168	39380244	39380373
ENSE00001651040	39442412	39442567
ENSE00001651128	39451052	39451211
ENSE00001651972	39430702	39430908
ENSE00001654662	39291910	39292038
ENSE00001669455	39442147	39442320
ENSE00001673140	39447432	39447587
ENSE00001679208	39295787	39295882
ENSE00001691519	39284066	39284185
ENSE00001693302	39372479	39372596
ENSE00001712868	39433048	39433155
ENSE00001713164	39285297	39285390
ENSE00001722236	39452156	39452350
ENSE00001727162	39381953	39382152
ENSE00001727666	39448594	39448763
ENSE00001734332	39385434	39385929
ENSE00001736392	39429242	39429326
ENSE00001738534	39444662	39444835
ENSE00001741989	39484601	39484730
ENSE00001743647	39454909	39455097
ENSE00001751465	39443446	39443574
ENSE00001755069	39429827	39430068
ENSE00001756285	39427455	39427614
ENSE00001760927	39287286	39287562
ENSE00001761406	39427961	39428287
ENSE00001765360	39295046	39295150
ENSE00001769328	39422730	39422900
ENSE00001771617	39293458	39293619
ENSE00001774048	39448033	39448152
ENSE00001779669	39424028	39424194
ENSE00001780166	39452684	39452812
ENSE00001784267	39422374	39422535
ENSE00001788884	39453707	39453850
ENSE00001793652	39465095	39465112
ENSE00001805045	39379203	39379444
ENSE00001896138	39204695	39205131
ENSE00002156630	39331203	39336653
ENSE00002273289	39282208	39282374
ENSE00002607506	39251846	39251941
ENSE00002708865	39284333	39284428
ENSE00003461801	39285083	39285210
ENSE00003462003	39368148	39368314
ENSE00003466663	39250014	39250103
ENSE00003474074	39310245	39310428
ENSE00003484227	39309570	39309696
ENSE00003492120	39460632	39460794
ENSE00003499725	39319664	39319747
ENSE00003499885	39315513	39315691
ENSE00003518683	39441224	39441325
ENSE00003520092	39316391	39316529
ENSE00003526687	39360793	39361001
ENSE00003527187	39353007	39353231
ENSE00003531753	39441952	39442053
ENSE00003535713	39361360	39361677
ENSE00003537745	39439274	39439500
ENSE00003546381	39479798	39480009
ENSE00003568504	39461883	39462037
ENSE00003584786	39231182	39231243
ENSE00003591734	39310831	39311000
ENSE00003601779	39463612	39463686
ENSE00003602769	39257936	39258028
ENSE00003605315	39327218	39327353
ENSE00003615518	39370030	39370186
ENSE00003616751	39441003	39441125
ENSE00003621022	39359141	39359264
ENSE00003625153	39480920	39481030
ENSE00003639143	39283409	39283515
ENSE00003649450	39317214	39317407
ENSE00003649898	39324646	39324734
ENSE00003670995	39468615	39468732
ENSE00003674352	39318453	39318615
ENSE00003674754	39357375	39357893
ENSE00003678072	39358697	39358873
ENSE00003679603	39322608	39322715
ENSE00003683045	39350785	39351018
ENSE00003684463	39324193	39324345
ENSE00003688828	39349478	39349627
ENSE00003690465	39302924	39303078
ENSE00003784046	39322910	39323008
ENSE00003790687	39254298	39254375
ENSE00003926642	39485538	39487138

Expression profiles

Bgee: expression breadth ubiquitous, 303 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.9487 / max 645.2489, expressed in 1820 samples.

FANTOM5 promoters (31 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2269	20.4258	1772
2312	10.3162	1519
2290	6.1927	461
2311	3.9540	1365
2295	3.3227	590
2281	3.2726	1051
2275	2.9799	459
2280	2.8016	1034
2279	2.6197	855
2289	2.4391	423

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior olivary complex	UBERON:0002127	99.37	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.36	gold quality
right lung	UBERON:0002167	99.32	gold quality
calcaneal tendon	UBERON:0003701	99.29	gold quality
colonic epithelium	UBERON:0000397	99.25	gold quality
corpus callosum	UBERON:0002336	99.18	gold quality
middle temporal gyrus	UBERON:0002771	99.03	gold quality
saphenous vein	UBERON:0007318	99.02	gold quality
upper lobe of left lung	UBERON:0008952	98.99	gold quality
ventricular zone	UBERON:0003053	98.95	gold quality
upper lobe of lung	UBERON:0008948	98.93	gold quality
right coronary artery	UBERON:0001625	98.89	gold quality
lateral globus pallidus	UBERON:0002476	98.86	gold quality
body of uterus	UBERON:0009853	98.84	gold quality
skin of leg	UBERON:0001511	98.83	gold quality
lung	UBERON:0002048	98.78	gold quality
myometrium	UBERON:0001296	98.75	gold quality
skin of abdomen	UBERON:0001416	98.74	gold quality
cortical plate	UBERON:0005343	98.74	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.69	gold quality
lower esophagus	UBERON:0013473	98.68	gold quality
visceral pleura	UBERON:0002401	98.65	gold quality
popliteal artery	UBERON:0002250	98.63	gold quality
tibial artery	UBERON:0007610	98.63	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.62	gold quality
skin of hip	UBERON:0001554	98.61	gold quality
artery	UBERON:0001637	98.61	gold quality
left uterine tube	UBERON:0001303	98.60	gold quality
endothelial cell	CL:0000115	98.59	gold quality
aorta	UBERON:0000947	98.59	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	4485.36
E-HCAD-35	yes	3742.45
E-CURD-126	yes	2233.54
E-GEOD-135922	yes	33.13
E-CURD-122	yes	24.03
E-HCAD-25	yes	21.34
E-CURD-112	yes	20.27
E-GEOD-84465	yes	10.81
E-GEOD-137537	yes	5.36
E-GEOD-150728	no	2297.54
E-HCAD-6	no	716.49
E-CURD-55	no	577.08
E-MTAB-7606	no	413.95
E-CURD-97	no	279.24
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 28)

• p230, through its interaction with MACF1, provides the molecular link for transport of GPI-anchored proteins along the microtubule and actin cytoskeleton from the TGN to the cell periphery. (PMID:15265687)
• In two lung cell lines, MACF1b was chiefly localized to the Golgi complex. The domain of MACF1b that targets it to the Golgi was found at the N-terminal part of the region that contains the plakin repeats. (PMID:16076900)
• This protein has been found differentially expressed in the Wernicke’s Area from patients with schizophrenia. (PMID:19405953)
• ACF7 targeting to the plasma membrane is both required and sufficient for microtubule capture downstream of ErbB2. (PMID:20937854)
• uncovered a role for ELMO in the recruitment of ACF7 to the membrane to promote microtubule capture and stability (PMID:23184944)
• Duplication in the microtubule-actin cross-linking factor 1 gene causes neuromuscular diseases. (PMID:24899269)
• MACF1b may contribute to the genetic etiology and mechanistic causation of Parkinson’s disease. (PMID:27021023)
• ACF7, a member of the spectraplakin family of cytoskeletal crosslinking proteins, interacts with Nezha (also called CAMSAP3) at the minus ends of noncentrosomal microtubules and anchors them to actin filaments. (PMID:27693509)
• in mammalian intestinal epithelial cells, the spectraplakin ACF7 (also known as MACF1) specifically binds to CAMSAP3 and is required for the apical localization of CAMSAP3-decorated microtubule minus ends. (PMID:27802168)
• the present study represents the first investigation on the functional role of MACF1 in tumor cell biology, as well as demonstrates its potential as a unique biomarker that can be targeted synergistically with TMZ as part of a combinatorial therapeutic approach for the treatment of genetically multifarious glioblastomas (PMID:27959385)
• Loss of ACF7 leads to aberrant microtubule organization, tight junction stabilization and impaired wound closure in vitro. ACF7 level is also correlated with development and progression of ulcerative colitis (UC) in patients. (PMID:28541346)
• Study summarized the physiological role of MACF1 as well as its pathological one in various cancers. MACF1 comprises different isoforms, and is broadly expressed in brain, spinal cord, lung, kidney, heart, bone and skeletal muscles tissues. It plays a crucial role in cell proliferation, migration and cell signaling, and is also closely associated with many cancer. (PMID:28782898)
• MACF1 overexpression triggered a drastic increase in osteogenic gene expression, alkaline phosphatase activity, and matrix mineralization in vitro. Mouse calvarial thickness, mineral apposition rate, and osteogenic marker protein expression were significantly enhanced by local transfection. In addition, MACF1 overexpression promoted beta-catenin expression and signaling. (PMID:29334773)
• Three de novo variants in MACF1 have been observed in large schizophrenia cohorts. (PMID:30471716)
• In this study, uncontrolled Diabetes mellitus (DM) had a remote impact on different components of the platelet transcriptome. Increased expression of MACF1, together with supporting predicted mRNA-miRNA interactions as well as reduced expression of RNYs in platelets, may reflect subclinical platelet activation in uncontrolled DM. (PMID:30519591)
• Missense mutation in the MACF1 gene is associated with congenital myasthenia. (PMID:30842214)
• MACF1 might lose the control of the whole cytoskeleton system, synapse might change and Alzheimer’s disease might develop (PMID:31383338)
• Mesenchymal MACF1 Facilitates SMAD7 Nuclear Translocation to Drive Bone Formation. (PMID:32143362)
• New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. (PMID:33036707)
• Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1. (PMID:33511591)
• Expression and Clinical Significance of Microtubule-Actin Cross-Linking Factor 1 in Serous Ovarian Cancer. (PMID:33573562)
• Deubiquitylation and stabilization of Acf7 by ubiquitin carboxylterminal hydrolase 14 (USP14) is critical for NSCLC migration. (PMID:33737492)
• The role of MACF1 on acute myeloid leukemia cell proliferation is involved in Runx2-targeted PI3K/Akt signaling. (PMID:35857251)
• THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes. (PMID:36672824)
• Role of microtubule actin crosslinking factor 1 (MACF1) in bipolar disorder pathophysiology and potential in lithium therapeutic mechanism. (PMID:37353479)
• CircMACF1 alleviates myocardial fibrosis after acute myocardial infarction by suppressing cardiac fibroblast activation via the miR-16-5p/SMAD7 axis. (PMID:37713818)
• LRRC1 knockdown downregulates MACF1 to inhibit the malignant progression of acute myeloid leukemia by inactivating beta-catenin/c-Myc signaling. (PMID:38165568)
• Exosomal circMACF1 drives PI3K/AKT/mTOR-mediated autophagy suppression in laryngeal squamous cell carcinoma. (PMID:38372097)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Macf1	ENSMUSG00000028649
rattus_norvegicus	Macf1	ENSRNOG00000016047

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Microtubule-actin cross-linking factor 1, isoforms 6/7 — O94854 (reviewed: O94854, Q9UPN3)

Alternative names: Uncharacterized protein KIAA0754

All UniProt accessions (23): Q9UPN3, A0A0A6YYJ5, A0A590UJG2, A0A5F9ZGX0, A0A669KB06, A0A669KB76, A0A669KB84, A0A669KBB0, A0A7P0MQR8, A0A804HL78, A0A8I5KY71, B4DQX9, E9PLY0, E9PLY5, E9PNZ4, E9PS75, H0Y314, H0Y390, H0Y4F5, H0Y6T5, H0Y7I1, H3BPE1, H3BQK9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton.

Isoforms (7)

UniProt ID	Names	Canonical?
O94854-3	6	yes
O94854-4	7
Q9UPN3-1	1, Macf1b
Q9UPN3-2	2, Macf1a
Q9UPN3-3	3
Q9UPN3-4	5
Q9UPN3-5	4

RefSeq proteins (3): NP_001380991, NP_001384402, NP_036222 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002017	Spectrin_repeat	Repeat
IPR002048	EF_hand_dom	Domain
IPR003108	GAR_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018159	Spectrin/alpha-actinin	Repeat
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR036534	GAR_dom_sf	Homologous_superfamily
IPR037727	MCAF1-like	Family
IPR001101	Plectin_repeat	Repeat
IPR001452	SH3_domain	Domain
IPR001589	Actinin_actin-bd_CS	Conserved_site
IPR001715	CH_dom	Domain
IPR035915	Plakin_repeat_sf	Homologous_superfamily
IPR036872	CH_dom_sf	Homologous_superfamily
IPR041573	Desmoplakin_Spectrin-like	Domain
IPR041615	Desmoplakin_SH3	Domain
IPR043197	Plakin	Family
IPR049538	PCN-like_spectrin-like_rpt	Repeat

Pfam: PF00307, PF00435, PF00681, PF02187, PF13499, PF17902, PF18373, PF21019, PF21020, PF21097

UniProt features (243 total): repeat 65, modified residue 29, helix 25, compositionally biased region 21, region of interest 20, binding site 20, sequence variant 17, sequence conflict 12, strand 11, domain 9, splice variant 8, turn 4, chain 2

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5X57	X-RAY DIFFRACTION	1.45
4Z6G	X-RAY DIFFRACTION	2.65
5VE9	X-RAY DIFFRACTION	2.79

Predicted structure (AlphaFold)

No AlphaFold model available for O94854 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

No AlphaFold model available for Q9UPN3 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

O94854 (canonical)

Ligand- & substrate-binding residues (10): 3181; 3183; 3185; 3187; 3192; 3217; 3219; 3221; 3223; 3228

Q9UPN3

Ligand- & substrate-binding residues (10): 7054; 7056; 7058; 7060; 7065; 7090; 7092; 7094; 7096; 7101

Post-translational modifications (29): 2077, 3122, 3331, 3927, 4495, 4496, 4521, 4836, 4962, 5435, 5808, 6032, 6210, 6967, 7254, 7279, 7292, 7330, 7333, 4 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 445 (showing top): FXR_IR1_Q6, GCM_MAP4K4, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOZGIT_ESR1_TARGETS_DN, GOBP_FOCAL_ADHESION_ASSEMBLY, GEORGES_CELL_CYCLE_MIR192_TARGETS, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOBP_GROWTH, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY

GO Biological Process (15): regulation of epithelial cell migration (GO:0010632), Wnt signaling pathway (GO:0016055), positive regulation of Wnt signaling pathway (GO:0030177), regulation of cell migration (GO:0030334), regulation of microtubule-based process (GO:0032886), wound healing (GO:0042060), Golgi to plasma membrane protein transport (GO:0043001), intermediate filament cytoskeleton organization (GO:0045104), positive regulation of axon extension (GO:0045773), regulation of focal adhesion assembly (GO:0051893), regulation of neuron projection arborization (GO:0150011), regulation of anatomical structure morphogenesis (GO:0022603), regulation of cell projection organization (GO:0031344), regulation of multicellular organismal process (GO:0051239), establishment of protein localization to membrane (GO:0090150)

GO Molecular Function (10): calcium ion binding (GO:0005509), microtubule binding (GO:0008017), RNA binding (GO:0003723), actin binding (GO:0003779), structural molecule activity (GO:0005198), cadherin binding (GO:0045296), microtubule minus-end binding (GO:0051011), actin filament binding (GO:0051015), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (14): cytoskeleton (GO:0005856), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), microtubule (GO:0005874), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), membrane (GO:0016020), ruffle membrane (GO:0032587), intermediate filament (GO:0005882), cell junction (GO:0030054), cell leading edge (GO:0031252), ciliary basal body (GO:0036064), cell projection (GO:0042995), organelle (GO:0043226)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
polymeric cytoskeletal fiber	2
epithelial cell migration	1
regulation of cell migration	1
regulation of multicellular organismal process	1
cell surface receptor signaling pathway	1
positive regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
cell migration	1
regulation of cell motility	1
microtubule-based process	1
regulation of cellular process	1
response to wounding	1
tissue regeneration	1
Golgi to plasma membrane transport	1
protein transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
cytoskeleton organization	1
intermediate filament-based process	1
positive regulation of cell growth	1
regulation of axon extension	1
positive regulation of developmental growth	1
axon extension	1
positive regulation of axonogenesis	1
regulation of cell-matrix adhesion	1
focal adhesion assembly	1
regulation of cell-substrate junction assembly	1
regulation of cell morphogenesis	1
regulation of cell projection organization	1
neuron projection arborization	1
anatomical structure morphogenesis	1
regulation of developmental process	1
cell projection organization	1
regulation of cellular component organization	1
multicellular organismal process	1
regulation of biological process	1
establishment of protein localization	1
localization within membrane	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

31 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
MACF1	RPL14	psi-mi:“MI:0915”(physical association)	0.400
CEP170P1	PCYT1A	psi-mi:“MI:0914”(association)	0.350
Immt	GOSR1	psi-mi:“MI:0914”(association)	0.350
APOA1	CNMD	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
CLASP1	KIF2A	psi-mi:“MI:0914”(association)	0.350
CSNK2A1	RPS3A	psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
RBM14	TBKBP1	psi-mi:“MI:0914”(association)	0.350
SNRPB	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPC	DDX39A	psi-mi:“MI:0914”(association)	0.350
YWHAB	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
AGGF1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
BUD13	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
DGCR8	VWA8	psi-mi:“MI:2364”(proximity)	0.270
RBM15	ILVBL	psi-mi:“MI:2364”(proximity)	0.270
RPS11	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
RPS3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
SF3B4	MED19	psi-mi:“MI:2364”(proximity)	0.270
UTP3	NACA	psi-mi:“MI:2364”(proximity)	0.270
ZRANB2	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
EIF3G	SBNO1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (44): KIAA0754 (Affinity Capture-RNA), KIAA0754 (Affinity Capture-RNA), KIAA0754 (Affinity Capture-RNA), KIAA0754 (Affinity Capture-MS), KIAA0754 (Affinity Capture-MS), KIAA0754 (Affinity Capture-RNA), KIAA0754 (Proximity Label-MS), KIAA0754 (Proximity Label-MS), KIAA0754 (Affinity Capture-MS), RPL14 (Proximity Label-MS), KIAA0754 (Proximity Label-MS), KIAA0754 (Affinity Capture-MS), KIAA0754 (Proximity Label-MS), KIAA0754 (Proximity Label-MS), KIAA0754 (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GUW6, A1EGX6, A4FU49, A6NJ88, A6QP92, E9PAV3, E9Q0C6, F1QU13, O94854, P18583, P24587, P27546, P27816, P36225, P43597, P70670, Q08DY0, Q2T9N0, Q32L62, Q4R729, Q4V7A4, Q5H9T9, Q5M7W5, Q5SWP3, Q5XHX6, Q5XPK0, Q659K0, Q68DN1, Q68FX6, Q69ZZ9, Q6AZ54, Q6P6B1, Q6ZRG5, Q70KF4, Q710D7, Q810T2, Q8K4E0, Q8N3K9, Q8TCU4, Q8WWL7

Diamond homologs: A0A1L8H8C0, A0A1L8HFX9, D3ZHV2, D3ZUE1, O43903, O94854, P11862, Q03001, Q3UWW6, Q5SSG4, Q69ZZ9, Q86XJ1, Q8JZP9, Q8NHY3, Q91ZU6, Q99501, Q9QXZ0, Q9UPN3, Q9W3Y4, A0A8M2BID5, A5D7D1, D3ZEN0, D3ZHA0, D3ZQL6, E9Q557, F1LMV6, F1QH17, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369, O76329, O88990, O97592, P05094, P05095

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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
RAF activation	5	45.4×	3e-06
Signaling by high-kinase activity BRAF mutants	5	42.9×	4e-06
MAP2K and MAPK activation	5	38.6×	6e-06
Signaling by RAF1 mutants	5	37.6×	6e-06
Negative regulation of MAPK pathway	5	35.9×	6e-06
Signaling by moderate kinase activity BRAF mutants	5	34.3×	6e-06
Paradoxical activation of RAF signaling by kinase inactive BRAF	5	34.3×	6e-06
Signaling downstream of RAS mutants	5	34.3×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	5	21.0×	1e-03
MAPK cascade	5	17.4×	1e-03
mRNA splicing, via spliceosome	6	12.5×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1957 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	12
Uncertain significance	890
Likely benign	603
Benign	200

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1068756	NM_001394062.1(MACF1):c.21878A>T (p.Asp7293Val)	Pathogenic
1685933	NM_001394062.1(MACF1):c.12265C>T (p.Gln4089Ter)	Pathogenic
3767317	NM_001394062.1(MACF1):c.8892del (p.Gln2964fs)	Pathogenic
586948	NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)	Pathogenic
1676542	NM_001394062.1(MACF1):c.1957C>T (p.Leu653Phe)	Likely pathogenic
1694447	NM_001394062.1(MACF1):c.21717G>T (p.Arg7239Ser)	Likely pathogenic
1699453	NM_001394062.1(MACF1):c.21803G>A (p.Arg7268His)	Likely pathogenic
2431958	NM_001394062.1(MACF1):c.7129dup (p.Arg2377fs)	Likely pathogenic
2441775	NM_001394062.1(MACF1):c.21820G>A (p.Val7274Met)	Likely pathogenic
2499569	NM_001394062.1(MACF1):c.21752G>C (p.Arg7251Pro)	Likely pathogenic
3024134	NM_001394062.1(MACF1):c.21679-2A>G	Likely pathogenic
3065758	NM_001394062.1(MACF1):c.16804-2A>G	Likely pathogenic
3898866	NM_001394062.1(MACF1):c.21443T>C (p.Met7148Thr)	Likely pathogenic
4291812	NM_001394062.1(MACF1):c.16149+1G>T	Likely pathogenic
4813443	NM_001394062.1(MACF1):c.20288T>G (p.Phe6763Cys)	Likely pathogenic
599523	NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)	Likely pathogenic

SpliceAI

14189 predictions. Top by Δscore:

Variant	Effect	Δscore
1:39084435:GCTG:G	donor_gain	1.0000
1:39084439:G:GG	donor_gain	1.0000
1:39231176:TTACA:T	acceptor_loss	1.0000
1:39231179:CA:C	acceptor_loss	1.0000
1:39231180:A:AG	acceptor_gain	1.0000
1:39231180:A:G	acceptor_loss	1.0000
1:39231181:G:GA	acceptor_gain	1.0000
1:39231181:GAT:G	acceptor_gain	1.0000
1:39231242:AGG:A	donor_loss	1.0000
1:39231244:GTA:G	donor_loss	1.0000
1:39231245:T:A	donor_loss	1.0000
1:39250006:A:AG	acceptor_gain	1.0000
1:39250007:T:G	acceptor_gain	1.0000
1:39250100:ACTGG:A	donor_loss	1.0000
1:39250102:TGG:T	donor_loss	1.0000
1:39250104:G:GC	donor_loss	1.0000
1:39250104:G:GG	donor_gain	1.0000
1:39250105:TGAG:T	donor_loss	1.0000
1:39250106:GAGCT:G	donor_loss	1.0000
1:39251939:GTA:G	donor_gain	1.0000
1:39254289:T:A	acceptor_gain	1.0000
1:39254293:T:TA	acceptor_gain	1.0000
1:39254293:TGCA:T	acceptor_loss	1.0000
1:39254295:CAG:C	acceptor_loss	1.0000
1:39254296:A:AG	acceptor_gain	1.0000
1:39254297:G:GG	acceptor_gain	1.0000
1:39254297:GC:G	acceptor_gain	1.0000
1:39254297:GCC:G	acceptor_gain	1.0000
1:39254297:GCCC:G	acceptor_gain	1.0000
1:39254297:GCCCC:G	acceptor_gain	1.0000

AlphaMissense

49882 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:39231201:G:C	Q80H	1.000
1:39231201:G:T	Q80H	1.000
1:39231204:G:C	K81N	1.000
1:39231204:G:T	K81N	1.000
1:39231211:T:C	F84L	1.000
1:39231212:T:C	F84S	1.000
1:39231212:T:G	F84C	1.000
1:39231213:C:A	F84L	1.000
1:39231213:C:G	F84L	1.000
1:39231220:T:A	W87R	1.000
1:39231220:T:C	W87R	1.000
1:39231222:G:C	W87C	1.000
1:39231222:G:T	W87C	1.000
1:39231224:T:A	V88D	1.000
1:39250048:T:A	L106Q	1.000
1:39250048:T:C	L106P	1.000
1:39250051:G:C	R107P	1.000
1:39250056:G:C	G109R	1.000
1:39250056:G:T	G109C	1.000
1:39250057:G:A	G109D	1.000
1:39250057:G:T	G109V	1.000
1:39250066:T:A	L112Q	1.000
1:39250066:T:C	L112P	1.000
1:39250075:T:C	L115P	1.000
1:39250078:T:C	L116S	1.000
1:39250078:T:G	L116W	1.000
1:39250087:T:C	L119P	1.000
1:39254322:T:C	F133L	1.000
1:39254323:T:C	F133S	1.000
1:39254324:T:A	F133L	1.000

dbSNP variants (sampled 300 via entrez): RS1000004922 (1:39106878 G>C), RS1000008491 (1:39125029 C>T), RS1000028640 (1:39223629 C>T), RS1000028671 (1:39294129 C>A,T), RS1000029686 (1:39270424 A>G,T), RS1000045158 (1:39474643 G>A,C), RS1000046028 (1:39426844 T>G), RS1000059838 (1:39293901 T>G), RS1000061938 (1:39261264 CT>C), RS1000065095 (1:39115041 A>T), RS1000074861 (1:39259783 C>T), RS1000077717 (1:39170995 T>C), RS1000086648 (1:39263402 T>G), RS1000087748 (1:39216074 T>A), RS1000092915 (1:39119675 G>A)

Disease associations

OMIM: gene MIM:608271 | disease phenotypes: MIM:618325, MIM:100200, MIM:607432, MIM:213000

GenCC curated gene-disease

Disease	Classification	Inheritance
lissencephaly 9 with complex brainstem malformation	Strong	Autosomal dominant
autosomal dominant nonsyndromic hearing loss	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
lissencephaly spectrum disorder with complex brainstem malformation	Moderate	AD

Mondo (11): lissencephaly 9 with complex brainstem malformation (MONDO:0032677), skeletal dysplasia (MONDO:0018230), prostate cancer (MONDO:0008315), cleft palate (MONDO:0016064), abducens nerve palsy (MONDO:0007033), epilepsy (MONDO:0005027), intellectual disability (MONDO:0001071), lissencephaly spectrum disorders (MONDO:0018838), isolated cerebellar hypoplasia/agenesis (MONDO:0008939), isolated unilateral hemispheric cerebellar hypoplasia (MONDO:0017112), autosomal dominant nonsyndromic hearing loss (MONDO:0019587)

Orphanet (9): Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (Orphanet:572013), Primary bone dysplasia (Orphanet:364526), Familial prostate cancer (Orphanet:1331), Cleft palate (Orphanet:2014), Lissencephaly (Orphanet:48471), Isolated cerebellar agenesis (Orphanet:1398), Cerebellar hypoplasia-tapetoretinal degeneration syndrome (Orphanet:2246), Isolated unilateral hemispheric cerebellar hypoplasia (Orphanet:269218), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000011	Neurogenic bladder
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000369	Low-set ears
HP:0000486	Strabismus
HP:0000609	Optic nerve hypoplasia
HP:0000733	Motor stereotypy
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001302	Pachygyria
HP:0001320	Cerebellar vermis hypoplasia
HP:0001339	Lissencephaly
HP:0001344	Absent speech
HP:0001629	Ventricular septal defect
HP:0002015	Dysphagia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002079	Hypoplasia of the corpus callosum
HP:0002365	Hypoplasia of the brainstem
HP:0002384	Focal impaired awareness seizure
HP:0002827	Hip dislocation
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0004305	Involuntary movements
HP:0004322	Short stature
HP:0005280	Depressed nasal bridge

GWAS associations

39 associations (top):

Study	Trait	p-value
GCST000755_20	HDL cholesterol	4.000000e-10
GCST002899_32	HDL cholesterol	8.000000e-10
GCST003420_1	Colorectal cancer	3.000000e-07
GCST003475_2	Beard thickness	8.000000e-06
GCST003619_8	Type 2 diabetes	2.000000e-09
GCST003773_11	Loneliness (multivariate analysis)	5.000000e-06
GCST004482_47	Peripheral arterial disease (traffic-related air pollution interaction)	1.000000e-06
GCST004482_78	Peripheral arterial disease (traffic-related air pollution interaction)	1.000000e-06
GCST004605_54	Mean corpuscular hemoglobin concentration	2.000000e-10
GCST004894_33	Type 2 diabetes	6.000000e-07
GCST004894_90	Type 2 diabetes	3.000000e-06
GCST005162_3	Glucagon levels in response to oral glucose tolerance test (fasting)	2.000000e-06
GCST005337_28	Headache	4.000000e-08
GCST005413_12	Type 2 diabetes	9.000000e-09
GCST006867_1	Type 2 diabetes	8.000000e-14
GCST006979_873	Heel bone mineral density	2.000000e-11
GCST007515_17	Type 2 diabetes	7.000000e-16
GCST007516_20	Type 2 diabetes (adjusted for BMI)	7.000000e-09
GCST007517_1	Type 2 diabetes	9.000000e-11
GCST007518_3	Type 2 diabetes (adjusted for BMI)	9.000000e-09
GCST007611_13	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	7.000000e-09
GCST007656_12	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	3.000000e-11
GCST008129_3	Body mass index	4.000000e-11
GCST009379_26	Type 2 diabetes	3.000000e-26
GCST009462_17	Optic disc size	1.000000e-08
GCST010118_2	Type 2 diabetes	3.000000e-11
GCST010173_83	Triglyceride levels	4.000000e-13
GCST010321_97	PR interval	4.000000e-14
GCST010696_14	Cortical thickness (min-P)	9.000000e-12
GCST010697_24	Cortical surface area (min-P)	2.000000e-08

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007865	loneliness measurement
EFO:0007908	traffic air pollution measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004307	glucose tolerance test
EFO:0008463	glucagon measurement
EFO:0009270	heel bone mineral density
EFO:0004340	body mass index
EFO:0004530	triglyceride measurement
EFO:0004462	PR interval
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0006935	thalamus volume
EFO:0007984	platelet component distribution width

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D004827	Epilepsy	C10.228.140.490
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D054082	Lissencephaly	C10.500.507.450.499; C16.131.666.507.450.499
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C562568	Cerebellar Hypoplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression, increases expression	4
Estradiol	affects expression, increases expression, increases reaction	3
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Aflatoxin B1	decreases methylation, affects expression	3
bisphenol A	decreases expression, affects cotreatment, affects methylation, decreases methylation	2
trichostatin A	affects cotreatment, decreases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
bisphenol S	affects methylation, affects cotreatment, increases methylation, decreases expression	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression, decreases methylation	2
Cisplatin	affects cotreatment, increases expression, affects response to substance	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Tretinoin	affects expression, increases expression	2
FR900359	affects phosphorylation, increases phosphorylation	1
dicrotophos	increases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
lead acetate	affects cotreatment, increases expression	1
titanium dioxide	decreases methylation	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization, increases expression	1
decabromobiphenyl ether	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc protoporphyrin	affects cotreatment, increases expression	1
sodium arsenite	increases stability	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	increases expression, affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer