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.	23414
Gene name Gene Name - the full gene name approved by the HGNC.	Zinc finger protein, FOG family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ZFPM2
Synonyms (NCBI Gene) Gene synonyms aliases	DIH3, FOG2, SRXY9, ZC2HC11B, ZNF89B, hFOG-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DIH3, SRXY9
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in ma

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908601	A>C,G	Likely-benign, benign, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs121908602	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant

Show/Hide all(88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004621	hsa-miR-141-3p	Luciferase reporter assay, Western blot	20005803
MIRT004621	hsa-miR-141-3p	Luciferase reporter assay, Western blot	20005803
MIRT004621	hsa-miR-141-3p	Luciferase reporter assay, Western blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assay, Western blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assay, Western blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assay, Western blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assay, Western blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assay, Western blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assay, Western blot	20005803
MIRT004625	hsa-miR-429	Reporter assay	20005803
MIRT004622	hsa-miR-200a-3p	Reporter assay	20005803
MIRT004624	hsa-miR-200c-3p	Reporter assay	20005803
MIRT004621	hsa-miR-141-3p	Reporter assay	20005803
MIRT004623	hsa-miR-200b-3p	Reporter assay	20005803
MIRT028872	hsa-miR-26b-5p	Microarray	19088304
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assay, Western blot	24412919
MIRT1511988	hsa-miR-1269	CLIP-seq
MIRT1511989	hsa-miR-1269b	CLIP-seq
MIRT1511990	hsa-miR-1288	CLIP-seq
MIRT1511991	hsa-miR-1299	CLIP-seq
MIRT1511992	hsa-miR-138	CLIP-seq
MIRT1511993	hsa-miR-140-3p	CLIP-seq
MIRT1511994	hsa-miR-200b	CLIP-seq
MIRT1511995	hsa-miR-200c	CLIP-seq
MIRT1511996	hsa-miR-3140-3p	CLIP-seq
MIRT1511997	hsa-miR-3662	CLIP-seq
MIRT1511998	hsa-miR-3686	CLIP-seq
MIRT1511999	hsa-miR-378	CLIP-seq
MIRT1512000	hsa-miR-378b	CLIP-seq
MIRT1512001	hsa-miR-378c	CLIP-seq
MIRT1512002	hsa-miR-378d	CLIP-seq
MIRT1512003	hsa-miR-378e	CLIP-seq
MIRT1512004	hsa-miR-378f	CLIP-seq
MIRT1512005	hsa-miR-378h	CLIP-seq
MIRT1512006	hsa-miR-378i	CLIP-seq
MIRT1512007	hsa-miR-422a	CLIP-seq
MIRT1512008	hsa-miR-4263	CLIP-seq
MIRT1512009	hsa-miR-4515	CLIP-seq
MIRT1512010	hsa-miR-4638-3p	CLIP-seq
MIRT1512011	hsa-miR-4652-3p	CLIP-seq
MIRT1512012	hsa-miR-4740-5p	CLIP-seq
MIRT1512013	hsa-miR-4773	CLIP-seq
MIRT1512014	hsa-miR-4782-5p	CLIP-seq
MIRT1512015	hsa-miR-4799-5p	CLIP-seq
MIRT1512016	hsa-miR-516b	CLIP-seq
MIRT1512017	hsa-miR-576-5p	CLIP-seq
MIRT2154144	hsa-miR-3120-3p	CLIP-seq
MIRT2154145	hsa-miR-3157-5p	CLIP-seq
MIRT2154146	hsa-miR-4691-3p	CLIP-seq
MIRT2154147	hsa-miR-512-5p	CLIP-seq
MIRT2154148	hsa-miR-545	CLIP-seq
MIRT2666896	hsa-miR-106a	CLIP-seq
MIRT2666897	hsa-miR-106b	CLIP-seq
MIRT2666898	hsa-miR-1284	CLIP-seq
MIRT2666899	hsa-miR-130a	CLIP-seq
MIRT2666900	hsa-miR-130b	CLIP-seq
MIRT2666901	hsa-miR-142-5p	CLIP-seq
MIRT2666902	hsa-miR-17	CLIP-seq
MIRT2666903	hsa-miR-19a	CLIP-seq
MIRT2666904	hsa-miR-19b	CLIP-seq
MIRT2666905	hsa-miR-20a	CLIP-seq
MIRT2666906	hsa-miR-20b	CLIP-seq
MIRT2666907	hsa-miR-301a	CLIP-seq
MIRT2666908	hsa-miR-301b	CLIP-seq
MIRT2666909	hsa-miR-340	CLIP-seq
MIRT2666910	hsa-miR-3609	CLIP-seq
MIRT2666911	hsa-miR-3666	CLIP-seq
MIRT2666912	hsa-miR-3920	CLIP-seq
MIRT2666913	hsa-miR-4293	CLIP-seq
MIRT2666914	hsa-miR-4295	CLIP-seq
MIRT2666915	hsa-miR-454	CLIP-seq
MIRT2666916	hsa-miR-4686	CLIP-seq
MIRT2666917	hsa-miR-4796-3p	CLIP-seq
MIRT2666918	hsa-miR-519a	CLIP-seq
MIRT2666919	hsa-miR-519b-3p	CLIP-seq
MIRT2666920	hsa-miR-519c-3p	CLIP-seq
MIRT2666921	hsa-miR-519d	CLIP-seq
MIRT2666922	hsa-miR-548ah	CLIP-seq
MIRT2666923	hsa-miR-93	CLIP-seq
MIRT2666901	hsa-miR-142-5p	CLIP-seq
MIRT2666909	hsa-miR-340	CLIP-seq
MIRT2666916	hsa-miR-4686	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10438528
GO:0000785	Component	Chromatin	ISA
GO:0001085	Function	RNA polymerase II transcription factor binding	IBA	21873635
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IMP	20807224
GO:0003221	Process	Right ventricular cardiac muscle tissue morphogenesis	IMP	20807224
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	10438528
GO:0003714	Function	Transcription corepressor activity	IDA	10438528
GO:0005515	Function	Protein binding	IPI	10438528, 19723756, 20705609, 21220346, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0007506	Process	Gonadal mesoderm development	IEA
GO:0007507	Process	Heart development	IBA	21873635
GO:0007596	Process	Blood coagulation	TAS
GO:0008134	Function	Transcription factor binding	IPI	10438528
GO:0008270	Function	Zinc ion binding	NAS	10438528
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030324	Process	Lung development	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IMP	20705609
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	20206639
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10438528
GO:0048568	Process	Embryonic organ development	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IMP	20807224
GO:0060548	Process	Negative regulation of cell death	IEA
GO:2000020	Process	Positive regulation of male gonad development	IEA
GO:2000195	Process	Negative regulation of female gonad development	IEA

MIM	HGNC	e!Ensembl
603693	16700	ENSG00000169946

Protein

UniProt ID

Q8WW38

Protein name

Zinc finger protein ZFPM2 (Friend of GATA protein 2) (FOG-2) (Friend of GATA 2) (hFOG-2) (Zinc finger protein 89B) (Zinc finger protein multitype 2)

Protein function

Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a hetero

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12874	zf-met	1119 → 1139		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low level. {ECO:0000269|PubMed:10438528}.

Sequence

MSRRKQSKPRQIKRPLEDAIEDEEEECPSEETDIISKGDFPLEESFSTEFGPENLSCEEV
EYFCNKGDDEGIQETAESDGDTQSEKPGQPGVETDDWDGPGELEVFQKDGERKIQSRQQL
PVGTTWGPFPGKMDLNNNSLKTKAQVPMVLTAGPKWLLDVTWQGVEDNKNNCIVYSKGGQ
LWCTTTKAISEGEELIAFVVDFDSRLQAASQMTLTEGMYPARLLDSIQLLPQQAAMASIL
PTAIVNKDIFPCKSCGIWYRSERNLQAHLMYYCSGRQREAAPVSEENEDSAHQISSLCPF
PQCTKSFSNARALEMHLNSHSGVKMEEFLPPGASLKCTVCSYTADSVINFHQHLFSHLTQ
AAFRCNHCHFGFQTQRELLQHQELHVPSGKLPRESDMEHSPSATEDSLQPATDLLTRSEL
PQSQKAMQTKDASSDTELDKCEKKTQLFLTNQRPEIQPTTNKQSFSYTKIKSEPSSPRLA
SSPVQPNIGPSFPVGPFLSQFSFPQDITMVPQASEILAKMSELVHRRLRHGSSSYPPVIY
SPLMPKGATCFECNITFNNLDNYLVHKKHYCSSRWQQMAKSPEFPSVSEKMPEALSPNTG
QTSINLLNPAAHSADPENPLLQTSCINSSTVLDLIGPNGKGHDKDFSTQTKKLSTSSNND
DKINGKPVDVKNPSVPLVDGESDPNKTTCEACNITFSRHETYMVHKQYYCATRHDPPLKR
SASNKVPAMQRTMRTRKRRKMYEMCLPEQEQRPPLVQQRFLDVANLNNPCTSTQEPTEGL
GECYHPRCDIFPGIVSKHLETSLTINKCVPVSKCDTTHSSVSCLEMDVPIDLSKKCLSQS
ERTTTSPKRLLDYHECTVCKISFNKVENYLAHKQNFCPVTAHQRNDLGQLDGKVFPNPES
ERNSPDVSYERSIIKCEKNGNLKQPSPNGNLFSSHLATLQGLKVFSEAAQLIATKEENRH
LFLPQCLYPGAIKKAKGADQLSPYYGIKPSDYISGSLVIHNTDIEQSRNAENESPKGQAS
SNGCAALKKDSLPLLPKNRGMVIVNGGLKQDERPAANPQQENISQNPQHEDDHKSPSWIS
ENPLAANENVSPGIPSAEEQLSSIAKGVNGSSQAPTSGKYCRLCDIQFNNLSNFITHKKF
YCSSHAAEHVK

Sequence length

1151

Interactions

View interactions

	KEGG		Reactome
	MicroRNAs in cancer		Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (17)

Disease term	Disease name	dbSNP ID	References
Causal
46, xy partial gonadal dysgenesis	46,XY partial gonadal dysgenesis	rs193922688	24549039
46, xy sex reversal	46,XY SEX REVERSAL 9	rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969 View all (54 more)	25813279, 24549039
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019	23453885
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591	21525063
Conotruncal heart defect	CONOTRUNCAL HEART MALFORMATIONS (disorder)	rs267606914, rs587777422	20807224
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Double outlet right ventricle	Double Outlet Right Ventricle	rs397514520, rs397514521
Glaucoma	Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)	22570617
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910 View all (152 more)
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	23453885, 30285260
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)	20807224, 16103912, 24702427, 14517948

Show/Hide Unknown Diseases (17)

Disease term	Disease name	Evidence	References	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia			ClinVar
Asthma	Asthma		21790008	ClinVar
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		30940143	ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Mental depression	Major Depressive Disorder		23453885	ClinVar
Tetralogy of Fallot	tetralogy of fallot			GenCC
46, XY Sex Reversal	46,XY sex reversal 9			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Myocardial Infarction	Myocardial Infarction			GWAS
Diabetes	Diabetes			GWAS
Takayasu Arteritis	Takayasu Arteritis			GWAS
Hypertension	Hypertension			GWAS
Mental Depression	Mental Depression			GWAS
Brugada Syndrome	Brugada Syndrome			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Heart Failure	Heart Failure			GWAS

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text Mining
46 XY female	Associate	31962012
Alzheimer Disease	Associate	35347084, 35669784
Astrocytoma	Associate	26207917
Atrioventricular Septal Defect	Associate	25996639
Axenfeld Rieger syndrome	Associate	25813279
Azoospermia Nonobstructive	Associate	36017582
Breast Neoplasms	Associate	30822522, 33215431
Carcinogenesis	Associate	31298319
Carcinoma Hepatocellular	Associate	32744687, 33102579, 34603293, 36524359, 39202457
Carcinoma Renal Cell	Associate	31298319, 35258173
Cardiac Output Low	Associate	35119225
Colorectal Neoplasms	Associate	31796117
Colorectal Neoplasms	Stimulate	33300060
Conotruncal cardiac defects	Associate	25025186
Coronary Artery Disease	Associate	31679650
Cryptorchidism	Associate	27899089
Diabetes Mellitus Type 2	Associate	31679650
DiGeorge Syndrome	Associate	25981510
Disorder of Sex Development 46 XY	Associate	31962012, 33202802
Disorders of Sex Development	Associate	31962012, 33202802, 37413951
Esophageal Squamous Cell Carcinoma	Associate	32065218
Fatty Liver	Associate	39202457
Fibrosis	Associate	39202457
Genetic Diseases Inborn	Associate	29241932
Glaucoma Open Angle	Associate	25414181
Glioma	Associate	26207917
Gonadal Dysgenesis 46 XY	Associate	25813279
Granulosa Cell Tumor	Associate	23029311
Heart Defects Congenital	Associate	25981510, 35119225
Heredodegenerative Disorders Nervous System	Associate	35347084
Hernias Diaphragmatic Congenital	Associate	21525063, 35119225
Hypercholesterolemia	Associate	31405227
Infertility Male	Associate	27899089
Liver Cirrhosis	Associate	28691020
Liver Diseases	Associate	39202457
Liver Failure	Associate	39202457
Lung Neoplasms	Associate	26314828, 32561925
Lymphatic Metastasis	Associate	31298319, 35258173
Lymphatic Metastasis	Stimulate	33215431, 33300060
Metabolic Syndrome	Associate	31405227
Nasopharyngeal Carcinoma	Associate	32633364
Neoplasm Metastasis	Stimulate	31298319, 32561925, 32744687, 33215431
Neoplasm Metastasis	Associate	35258173
Neoplasms	Associate	30347759, 31298319, 32065218, 33215431
Neoplasms	Stimulate	33300060, 36524359
Neural Tube Defects	Associate	15705784
Neuroblastoma	Inhibit	19707195
Neuroblastoma	Associate	26207917
Obesity	Associate	28373160, 34638758
Obesity Metabolically Benign	Associate	34638758
Osteoporosis	Associate	33778083
Osteoporotic Fractures	Associate	33778083
Ovarian Neoplasms	Associate	23029311, 26207917
Pallister Killian syndrome	Associate	25329894
Retinoblastoma	Stimulate	32561925
Retinoblastoma	Associate	34989314
Sertoli Leydig Cell Tumor	Associate	23029311
Sex Cord Gonadal Stromal Tumors	Associate	23029311
Tetralogy of Fallot	Associate	25025186, 25981510
Thecoma	Associate	23029311
Thyroiditis Autoimmune	Associate	26955881
Triple Negative Breast Neoplasms	Associate	34326372
Uterine Cervical Neoplasms	Associate	33300060
Venous Thromboembolism	Associate	28373160

ZFPM2 (zinc finger protein, FOG family member 2)