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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64423
Gene name Gene Name - the full gene name approved by the HGNC.	Inverted formin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	INF2
Synonyms (NCBI Gene) Gene synonyms aliases	C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that t

Show/Hide all(26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201715539	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs267606877	T>C	Pathogenic	Coding sequence variant, missense variant
rs267606878	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606879	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606880	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607183	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907034	T>C	Pathogenic	Coding sequence variant, missense variant
rs387907035	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs387907036	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387907037	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907038	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs530391015	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs539256832	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs746964937	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs912928648	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1317776692	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555373363	T>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555373368	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555373599	GCCCTGGAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1566777417	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1566777560	G>A	Pathogenic	Missense variant, coding sequence variant
rs1566778512	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566778651	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1566778676	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1595163730	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595166085	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(183)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022208	hsa-miR-124-3p	Microarray	18668037
MIRT031476	hsa-miR-16-5p	Proteomics	18668040
MIRT721771	hsa-miR-4512	HITS-CLIP	19536157
MIRT721770	hsa-miR-3918	HITS-CLIP	19536157
MIRT721769	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT721768	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT721767	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT721766	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT721765	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721764	hsa-miR-6861-3p	HITS-CLIP	19536157
MIRT721763	hsa-miR-492	HITS-CLIP	19536157
MIRT721762	hsa-miR-659-5p	HITS-CLIP	19536157
MIRT721761	hsa-miR-2861	HITS-CLIP	19536157
MIRT721760	hsa-miR-8071	HITS-CLIP	19536157
MIRT721759	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT721758	hsa-miR-5701	HITS-CLIP	19536157
MIRT721757	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT721756	hsa-miR-4535	HITS-CLIP	19536157
MIRT721755	hsa-miR-4433b-5p	HITS-CLIP	19536157
MIRT721754	hsa-miR-4646-3p	HITS-CLIP	19536157
MIRT721771	hsa-miR-4512	HITS-CLIP	19536157
MIRT721770	hsa-miR-3918	HITS-CLIP	19536157
MIRT721769	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT721768	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT721767	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT721766	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT721765	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721764	hsa-miR-6861-3p	HITS-CLIP	19536157
MIRT721763	hsa-miR-492	HITS-CLIP	19536157
MIRT721762	hsa-miR-659-5p	HITS-CLIP	19536157
MIRT721761	hsa-miR-2861	HITS-CLIP	19536157
MIRT721760	hsa-miR-8071	HITS-CLIP	19536157
MIRT721759	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT721758	hsa-miR-5701	HITS-CLIP	19536157
MIRT721757	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT721756	hsa-miR-4535	HITS-CLIP	19536157
MIRT721755	hsa-miR-4433b-5p	HITS-CLIP	19536157
MIRT721754	hsa-miR-4646-3p	HITS-CLIP	19536157
MIRT1066214	hsa-miR-1207-5p	CLIP-seq
MIRT1066215	hsa-miR-4650-5p	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT1066217	hsa-miR-4736	CLIP-seq
MIRT1066218	hsa-miR-4763-3p	CLIP-seq
MIRT1066219	hsa-miR-548q	CLIP-seq
MIRT1066220	hsa-miR-1286	CLIP-seq
MIRT1066221	hsa-miR-139-5p	CLIP-seq
MIRT1066222	hsa-miR-219-5p	CLIP-seq
MIRT1066223	hsa-miR-3150b-3p	CLIP-seq
MIRT1066224	hsa-miR-4689	CLIP-seq
MIRT1066225	hsa-miR-4760-5p	CLIP-seq
MIRT1066226	hsa-miR-4782-3p	CLIP-seq
MIRT1066227	hsa-miR-4784	CLIP-seq
MIRT1066228	hsa-miR-548v	CLIP-seq
MIRT1066220	hsa-miR-1286	CLIP-seq
MIRT1066221	hsa-miR-139-5p	CLIP-seq
MIRT1066228	hsa-miR-548v	CLIP-seq
MIRT2015830	hsa-miR-1205	CLIP-seq
MIRT2015831	hsa-miR-1207-3p	CLIP-seq
MIRT1066214	hsa-miR-1207-5p	CLIP-seq
MIRT2015832	hsa-miR-124	CLIP-seq
MIRT2015833	hsa-miR-1267	CLIP-seq
MIRT2015834	hsa-miR-1291	CLIP-seq
MIRT2015835	hsa-miR-1909	CLIP-seq
MIRT2015836	hsa-miR-2467-3p	CLIP-seq
MIRT2015837	hsa-miR-296-5p	CLIP-seq
MIRT2015838	hsa-miR-3127-5p	CLIP-seq
MIRT2015839	hsa-miR-3145-5p	CLIP-seq
MIRT2015840	hsa-miR-3192	CLIP-seq
MIRT2015841	hsa-miR-328	CLIP-seq
MIRT2015842	hsa-miR-34a	CLIP-seq
MIRT2015843	hsa-miR-34c-5p	CLIP-seq
MIRT2015844	hsa-miR-3622a-5p	CLIP-seq
MIRT2015845	hsa-miR-3652	CLIP-seq
MIRT2015846	hsa-miR-3689a-3p	CLIP-seq
MIRT2015847	hsa-miR-3689c	CLIP-seq
MIRT2015848	hsa-miR-3714	CLIP-seq
MIRT2015849	hsa-miR-3910	CLIP-seq
MIRT2015850	hsa-miR-3926	CLIP-seq
MIRT2015851	hsa-miR-4286	CLIP-seq
MIRT2015852	hsa-miR-4430	CLIP-seq
MIRT2015853	hsa-miR-4436b-3p	CLIP-seq
MIRT2015854	hsa-miR-4455	CLIP-seq
MIRT2015855	hsa-miR-4459	CLIP-seq
MIRT2015856	hsa-miR-4480	CLIP-seq
MIRT2015857	hsa-miR-4492	CLIP-seq
MIRT2015858	hsa-miR-4498	CLIP-seq
MIRT2015859	hsa-miR-449a	CLIP-seq
MIRT2015860	hsa-miR-449b	CLIP-seq
MIRT2015861	hsa-miR-4505	CLIP-seq
MIRT2015862	hsa-miR-4638-3p	CLIP-seq
MIRT2015863	hsa-miR-4640-5p	CLIP-seq
MIRT2015864	hsa-miR-4652-3p	CLIP-seq
MIRT2015865	hsa-miR-4691-3p	CLIP-seq
MIRT2015866	hsa-miR-4707-5p	CLIP-seq
MIRT2015867	hsa-miR-4726-5p	CLIP-seq
MIRT2015868	hsa-miR-4728-5p	CLIP-seq
MIRT1066217	hsa-miR-4736	CLIP-seq
MIRT1066218	hsa-miR-4763-3p	CLIP-seq
MIRT2015869	hsa-miR-4779	CLIP-seq
MIRT2015870	hsa-miR-506	CLIP-seq
MIRT2015871	hsa-miR-545	CLIP-seq
MIRT2015872	hsa-miR-548an	CLIP-seq
MIRT1066219	hsa-miR-548q	CLIP-seq
MIRT2015873	hsa-miR-548s	CLIP-seq
MIRT2015874	hsa-miR-550a	CLIP-seq
MIRT2015875	hsa-miR-555	CLIP-seq
MIRT2015876	hsa-miR-564	CLIP-seq
MIRT2015877	hsa-miR-659	CLIP-seq
MIRT2015878	hsa-miR-665	CLIP-seq
MIRT2015879	hsa-miR-762	CLIP-seq
MIRT2015880	hsa-miR-885-3p	CLIP-seq
MIRT2248323	hsa-miR-1271	CLIP-seq
MIRT2248324	hsa-miR-141	CLIP-seq
MIRT2248325	hsa-miR-182	CLIP-seq
MIRT2248326	hsa-miR-200a	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2248330	hsa-miR-4267	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT2248332	hsa-miR-4670-5p	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2248334	hsa-miR-562	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2248336	hsa-miR-766	CLIP-seq
MIRT2248337	hsa-miR-96	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2551903	hsa-miR-3176	CLIP-seq
MIRT2551904	hsa-miR-3189-3p	CLIP-seq
MIRT2015846	hsa-miR-3689a-3p	CLIP-seq
MIRT2015847	hsa-miR-3689c	CLIP-seq
MIRT2551905	hsa-miR-3922-3p	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2248330	hsa-miR-4267	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2551906	hsa-miR-4300	CLIP-seq
MIRT2015855	hsa-miR-4459	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT2551907	hsa-miR-4716-3p	CLIP-seq
MIRT2551908	hsa-miR-4722-5p	CLIP-seq
MIRT2551909	hsa-miR-4723-5p	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2015869	hsa-miR-4779	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2248336	hsa-miR-766	CLIP-seq
MIRT2551910	hsa-miR-920	CLIP-seq
MIRT2551911	hsa-miR-939	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	33232676
GO:0005737	Component	Cytoplasm	IEA
GO:0005884	Component	Actin filament	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030041	Process	Actin filament polymerization	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20023659
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0090140	Process	Regulation of mitochondrial fission	IMP	23349293

MIM	HGNC	e!Ensembl
610982	23791	ENSG00000203485

Protein

UniProt ID

Q27J81

Protein name

Inverted formin-2 (HBEBP2-binding protein C)

Protein function

Severs actin filaments and accelerates their polymerization and depolymerization.

PDB

8RV2 , 9AZ4 , 9AZP , 9AZQ , 9B03 , 9B0K , 9FJN , 9FJW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06371	Drf_GBD	5 → 152	Diaphanous GTPase-binding Domain	Family
PF06367	Drf_FH3	156 → 341	Diaphanous FH3 Domain	Family
PF02181	FH2	554 → 921	Formin Homology 2 Domain	Family
PF02205	WH2	974 → 991	WH2 motif	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells. {ECO:0000269|PubMed:20023659}.

Sequence

MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGS
DGGWMVQFLEQSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILS
NQGYVRQLSQALDTSNVMVKKQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSI
VMNELSGSDNVPYVVTLLSVINAVILGPEDLRARTQLRNEFIGLQLLDVLARLRDLEDAD
LLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFHKVSCSPVSAQLLSVLQGLLH
LEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRPSPLVKAHKSV
QANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST
PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPL
PGSCEFLPPPPPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVA
QVDHGLGSAWVPSHRRVNPPTLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFS
SIERLFSFPAAKPKEPTMVAPRARKEPKEITFLDAKKSLNLNIFLKQFKCSNEEVAAMIR
AGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLASADHFYLLLLAIPCYQLRIEC
MLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNYGSHTGDADGF
KISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA
SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCED
AQQLSLEDTFSTMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPV
RKGPGKQEEVCVIDALLADIRKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPA
GDPVGSTRCPASEPGLDATTASESRGWDLVDAVTPGPQPTLEQLEEGGPRPLERRSSWYV
DASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQPPAAGSSRQDAKDPTSLLGV
LQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLDKSFSEDAVTD
SSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ

Sequence length

1249

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs530391015, rs1595163851, rs1595164091, rs387907038, rs1566778676, rs912928648, rs1595163736	N/A
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease dominant intermediate E	rs267607183, rs267606878, rs387907035, rs387907036, rs387907037, rs912928648, rs387907038, rs1555373599	N/A
Focal segmental glomerulosclerosis	focal segmental glomerulosclerosis 5	rs1566778651, rs267606878, rs1566777560, rs1595166085, rs267606879, rs1566778676, rs1595163730, rs267606880, rs1317776692, rs912928648, rs267606877, rs267607183	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Kidney Disease	Chronic kidney disease	N/A	N/A	ClinVar
Nephrotic Syndrome	nephrotic syndrome, familial idiopathic steroid-resistant nephrotic syndrome	N/A	N/A	ClinVar, GenCC
proteinuria	Proteinuria	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Charcot Marie Tooth Disease	Associate	22879592, 22971997, 30126379, 38412658, 39609740, 39973457
Charcot Marie Tooth disease Type 2B	Associate	37491439
Chromosome Aberrations	Associate	21866090
Dystonic Disorders	Associate	23515051
Endometrial Neoplasms	Associate	37344480
Endometrial Neoplasms	Stimulate	38233384
Genetic Diseases Inborn	Associate	21866090, 36306014
Glioblastoma	Associate	32727404
Glomerulonephritis	Associate	39609740
Glomerulosclerosis Focal Segmental	Associate	20023659, 21258034, 21866090, 22879592, 22971997, 23014460, 26764407, 26951353, 30126379, 31096240, 37491439, 38412658, 39609740
Heredodegenerative Disorders Nervous System	Associate	29321169
Kidney Diseases	Associate	24196483, 31096240
Kidney Failure Chronic	Associate	22971997, 27733133, 30126379
Mitochondrial Diseases	Associate	37344480
Nephritis Hereditary	Associate	26951353
Nephrosis Lipoid	Associate	30126379
Nephrotic Syndrome	Associate	21415313, 24196483, 26764407, 28921387, 35920919
Nervous System Diseases	Associate	22971997, 37491439
Prion Diseases	Associate	39609740
Prostatic Neoplasms	Associate	28448495
Proteinuria	Associate	27733133, 31937884
Renal Insufficiency Chronic	Associate	30126379
Stomach Neoplasms	Associate	24260584

INF2 (inverted formin 2)