Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56776
Gene name	Formin 2
Gene symbol	FMN2
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1q43
Summary	This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs146681532	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs201538863	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant
rs727502860	->C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs727502861	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs757511770	A>C,G,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs762281932	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant
rs886041659	TT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT530089	hsa-miR-4282	PAR-CLIP	22012620
MIRT530088	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT530087	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT734415	hsa-miR-1238-3p	Immunohistochemistry (IHC)Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	32526477
MIRT737057	hsa-miR-1182	Luciferase reporter assayWestern blottingMicroarrayImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCR	31738400
MIRT530089	hsa-miR-4282	PAR-CLIP	22012620
MIRT530088	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT530087	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT999503	hsa-miR-101	CLIP-seq
MIRT999504	hsa-miR-144	CLIP-seq
MIRT999505	hsa-miR-25	CLIP-seq
MIRT999506	hsa-miR-32	CLIP-seq
MIRT999507	hsa-miR-363	CLIP-seq
MIRT999508	hsa-miR-367	CLIP-seq
MIRT999509	hsa-miR-4679	CLIP-seq
MIRT999510	hsa-miR-4696	CLIP-seq
MIRT999511	hsa-miR-4799-5p	CLIP-seq
MIRT999512	hsa-miR-491-3p	CLIP-seq
MIRT999513	hsa-miR-654-3p	CLIP-seq
MIRT999514	hsa-miR-92a	CLIP-seq
MIRT999515	hsa-miR-92b	CLIP-seq
MIRT1996260	hsa-miR-3127-3p	CLIP-seq
MIRT1996261	hsa-miR-4719	CLIP-seq
MIRT1996262	hsa-miR-513b	CLIP-seq
MIRT2230198	hsa-miR-329	CLIP-seq
MIRT2230199	hsa-miR-362-3p	CLIP-seq
MIRT2230200	hsa-miR-3941	CLIP-seq
MIRT2230201	hsa-miR-4789-5p	CLIP-seq
MIRT2230202	hsa-miR-603	CLIP-seq
MIRT2533999	hsa-miR-3143	CLIP-seq
MIRT2534000	hsa-miR-543	CLIP-seq

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Transcription factor	Regulation	Reference
E2F1	Unknown	23839046

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0003779	Function	Actin binding	IDA	20082305
GO:0003779	Function	Actin binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26287480
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	23375502
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA	20082305
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0005938	Component	Cell cortex	ISS
GO:0006974	Process	DNA damage response	IDA	26287480
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	23375502
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	IDA	20082305
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016344	Process	Meiotic chromosome movement towards spindle pole	IEA
GO:0016477	Process	Cell migration	IMP	24223803
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IMP	24223803
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0040038	Process	Polar body extrusion after meiotic divisions	IEA
GO:0040038	Process	Polar body extrusion after meiotic divisions	ISS
GO:0042177	Process	Negative regulation of protein catabolic process	IMP	23375502
GO:0043066	Process	Negative regulation of apoptotic process	IMP	23375502
GO:0046907	Process	Intracellular transport	IEA
GO:0046907	Process	Intracellular transport	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051295	Process	Establishment of meiotic spindle localization	IEA
GO:0051295	Process	Establishment of meiotic spindle localization	ISS
GO:0051758	Process	Homologous chromosome movement towards spindle pole in meiosis I anaphase	IEA
GO:0051758	Process	Homologous chromosome movement towards spindle pole in meiosis I anaphase	ISS
GO:0070649	Process	Formin-nucleated actin cable assembly	IBA
GO:0070649	Process	Formin-nucleated actin cable assembly	IDA	26287480
GO:0070649	Process	Formin-nucleated actin cable assembly	IEA
GO:0070649	Process	Formin-nucleated actin cable assembly	ISS
GO:0071456	Process	Cellular response to hypoxia	IMP	23375502
GO:0071944	Component	Cell periphery	IEA
GO:2000781	Process	Positive regulation of double-strand break repair	IDA	26287480

MIM	HGNC	e!Ensembl
606373	14074	ENSG00000155816

Q9NZ56

Protein name

Formin-2

Protein function

Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:21730168, PubMed:22330775). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:2173

PDB

2YLE , 3R7G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02181	FH2	1283 → 1673	Formin Homology 2 Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed almost exclusively in the developing and mature central nervous system. {ECO:0000269|PubMed:10781961}.

Sequence

MGNQDGKLKRSAGDALHEGGGGAEDALGPRDVEATKKGSGGKKALGKHGKGGGGGGGGGE
SGKKKSKSDSRASVFSNLRIRKNLSKGKGAGGSREDVLDSQALQTGELDSAHSLLTKTPD
LSLSADEAGLSDTECADPFEVTGPGGPGPAEARVGGRPIAEDVETAAGAQDGQRTSSGSD
TDIYSFHSATEQEDLLSDIQQAIRLQQQQQQQLQLQLQQQQQQQQLQGAEEPAAPPTAVS
PQPGAFLGLDRFLLGPSGGAGEAPGSPDTEQALSALSDLPESLAAEPREPQQPPSPGGLP
VSEAPSLPAAQPAAKDSPSSTAFPFPEAGPGEEAAGAPVRGAGDTDEEGEEDAFEDAPRG
SPGEEWAPEVGEDAPQRLGEEPEEEAQGPDAPAAASLPGSPAPSQRCFKPYPLITPCYIK
TTTRQLSSPNHSPSQSPNQSPRIKRRPEPSLSRGSRTALASVAAPAKKHRADGGLAAGLS
RSADWTEELGARTPRVGGSAHLLERGVASDSGGGVSPALAAKASGAPAAADGFQNVFTGR
TLLEKLFSQQENGPPEEAEKFCSRIIAMGLLLPFSDCFREPCNQNAQTNAASFDQDQLYT
WAAVSQPTHSLDYSEGQFPRRVPSMGPPSKPPDEEHRLEDAETESQSAVSETPQKRSDAV
QKEVVDMKSEGQATVIQQLEQTIEDLRTKIAELERQYPALDTEVASGHQGLENGVTASGD
VCLEALRLEEKEVRHHRILEAKSIQTSPTEEGGVLTLPPVDGLPGRPPCPPGAESGPQTK
FCSEISLIVSPRRISVQLDSHQPTQSISQPPPPPSLLWSAGQGQPGSQPPHSISTEFQTS
HEHSVSSAFKNSCNIPSPPPLPCTESSSSMPGLGMVPPPPPPLPGMTVPTLPSTAIPQPP
PLQGTEMLPPPPPPLPGAGIPPPPPLPGAGILPLPPLPGAGIPPPPPLPGAAIPPPPPLP
GAGIPLPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIP
PPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGIPPPPPL
PGAGIPPPPPLPGAGIPPPPPLPGVGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGAGI
PPPPPLPRVGIPPPPPLPGAGIPPPPPLPGAGIPPPPPLPGVGIPPPPPLPGVGIPPPPP
LPGAGIPPPPPLPGMGIPPAPAPPLPPPGTGIPPPPLLPVSGPPLLPQVGSSTLPTPQVC
GFLPPPLPSGLFGLGMNQDKGSRKQPIEPCRPMKPLYWTRIQLHSKRDSSTSLIWEKIEE
PSIDCHEFEELFSKTAVKERKKPISDTISKTKAKQVVKLLSNKRSQAVGILMSSLHLDMK
DIQHAVVNLDNSVVDLETLQALYENRAQSDELEKIEKHGRSSKDKENAKSLDKPEQFLYE
LSLIPNFSERVFCILFQSTFSESICSIRRKLELLQKLCETLKNGPGVMQVLGLVLAFGNY
MNGGNKTRGQADGFGLDILPKLKDVKSSDNSRSLLSYIVSYYLRNFDEDAGKEQCLFPLP
EPQDLFQASQMKFEDFQKDLRKLKKDLKACEVEAGKVYQVSSKEHMQPFKENMEQFIIQA
KIDQEAEENSLTETHKCFLETTAYFFMKPKLGEKEVSPNAFFSIWHEFSSDFKDFWKKEN
KLLLQERVKEAEEVCRQKKGKSLYKIKPRHDSGIKAKISMKT

Sequence length

1722

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

206

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability, autosomal recessive 47	Likely pathogenic; Pathogenic	rs1390970926, rs1247510585, rs1426355851, rs727502860, rs727502861, rs1393310059, rs2527036464, rs757511770	RCV001329727 RCV001329728 RCV001781125 RCV000150035 RCV000150036 RCV003493230 RCV003989163 RCV000678303

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs140392779	RCV005932915
Aganglionic megacolon	Conflicting classifications of pathogenicity	rs1572736047	RCV000984779
Colon adenocarcinoma	Benign; Likely benign	rs146874723	RCV005901069
Familial cancer of breast	Benign; Likely benign	rs146874723	RCV005901068
FMN2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs200984130, rs369474345, rs778804893, rs773602444, rs373533409, rs200418654, rs201199944, rs780903069, rs372592302, rs201741828, rs200975594, rs142335257, rs997168836, rs71646894, rs200022577 View all (117 more)	RCV003931162 RCV003931163 RCV003948576 RCV003910976 RCV003968564 RCV003916384 RCV003916385 RCV003971213 RCV003943413 RCV003927870 RCV003937772 RCV003936685 RCV004731517 RCV003936728 RCV003946466 RCV003901007 RCV003928974 RCV003946496 RCV003936762 RCV003906720 RCV003906721 RCV003966344 RCV003906722 RCV003954110 RCV003929019 RCV003901031 RCV003954111 RCV003980866 RCV003929020 RCV003906723 RCV003919085 RCV003966345 RCV003901032 RCV003919086 RCV003929021 RCV003954112 RCV003919087 RCV003938898 RCV003966346 RCV003938899 RCV003919088 RCV003938900 RCV003901033 RCV003966347 RCV003946513 RCV003954108 RCV003946511 RCV003901030 RCV003946512 RCV003954109 RCV003909216 RCV003896483 RCV003896632 RCV003896754 RCV003896901 RCV003897036 RCV003897049 RCV003897132 RCV003907228 RCV003921425 RCV003921431 RCV003921445 RCV003921632 RCV003921690 RCV003921729 RCV003904740 RCV003923844 RCV003923892 RCV003929581 RCV003929680 RCV003929715 RCV003964596 RCV003981620 RCV003981726 RCV003893999 RCV003902135 RCV003902138 RCV003902327 RCV003904312 RCV003982435 RCV003901697 RCV003899799 RCV003914264 RCV003911432 RCV003911669 RCV003913831 RCV003913865 RCV003913937 RCV003933983 RCV003941860 RCV003927370 RCV003959586 RCV003959598 RCV003931803 RCV003927038 RCV003927057 RCV003943836 RCV003949632 RCV003951863 RCV003924385 RCV003917398 RCV003924452 RCV003949326 RCV003959058 RCV003922312 RCV003926778 RCV003926873 RCV003931924 RCV003931989 RCV003932072 RCV003932216 RCV003942285 RCV003956709 RCV003956757 RCV003954545 RCV003979063 RCV003979162 RCV003979291 RCV003968929 RCV003962256 RCV003902772 RCV003925460 RCV003925461 RCV003942634 RCV003960165 RCV003915373 RCV003979890 RCV003962379 RCV003902773 RCV003935288 RCV003905286 RCV003940428 RCV003970389 RCV003950836 RCV003960718 RCV003953377 RCV003961849 RCV003898079
Gastric cancer	Benign	rs115215815	RCV005911693
Intellectual disability	Likely benign	rs1666378082, rs140911005, rs781097988, rs1672248858	RCV001252503 RCV001251754 RCV001251752 RCV001251753
Malignant tumor of esophagus	Benign	rs115215815	RCV005911691
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity; Likely benign	rs150801382, rs901699283	RCV001264630 RCV001264629
Ovarian serous cystadenocarcinoma	Likely benign	rs200036152	RCV005939485
Sarcoma	Benign	rs115215815	RCV005911692

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	30510376
Carcinoma Pancreatic Ductal	Associate	34061869
Carcinoma Renal Cell	Associate	29463849
Colorectal Neoplasms	Associate	30510376, 33836681
Developmental Disabilities	Associate	29801487
Glomerulosclerosis Focal Segmental	Associate	30126379
Hypoxia	Stimulate	23375502
Intellectual Disability	Associate	25480035
Kidney Diseases	Associate	27974406
Learning Disabilities	Associate	25480035
Lymphatic Metastasis	Associate	30510376
Lymphoma Follicular	Associate	27750045
Muscle Neoplasms	Associate	40056411
Neoplasm Invasiveness	Associate	24887297
Neoplasms	Associate	24223803, 30510376, 40340749
Pancreatic Neoplasms	Associate	33253517
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27750045
Primary Ovarian Insufficiency	Associate	27301361, 35227295
Schizophrenia	Associate	34969953
Sensation Disorders	Associate	29801487
Thrombotic Microangiopathies	Associate	27974406
Wilms Tumor	Associate	40340749

FMN2 (formin 2)