ZFPM2 (zinc finger protein, FOG family member 2)

Gene

• Entrez ID: 23414
• Gene name: Zinc finger protein, FOG family member 2
• Gene symbol: ZFPM2
• Synonyms: DIH3, FOG2, SRXY9, ZC2HC11B, ZNF89B, hFOG-2
• Chromosome: 8
• Chromosome location: 8q23.1
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603693
• HGNC: 16700
• e!Ensembl: 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

• Sequence:

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

• Sequence length: 1151

Pathways

KEGG:

MicroRNAs in cancer

Reactome:

Factors involved in megakaryocyte development and platelet production

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215	25813279, 24549039
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21790008
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	23453885
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	30940143
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591	21525063
Conotruncal heart defect	CONOTRUNCAL HEART MALFORMATIONS (disorder)	rs267606914, rs587777422	20807224
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, 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, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	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, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	23453885, 30285260
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288	20807224, 16103912, 24702427, 14517948

Unknown
Disease name	Disease term	dbSNP ID	References
Ambiguous genitalia	Ambiguous Genitalia	rs782562963
Bipolar disorder	Bipolar Disorder		23453885
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cardiovascular diseases	Cardiovascular Diseases		30595370
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Congenital malrotation of intestine	Congenital malrotation of intestine
Development disorder	Child Development Disorders, Pervasive		23453885
Dolichocephaly	Long narrow head
Gonadal dysgenesis	Gonadal Dysgenesis, Gonadal Dysgenesis, 46,XY		16103912
Gynecomastia	Gynecomastia
Hypertrophy of clitoris	Hypertrophy of clitoris
Hypogonadism	Primary hypogonadism
Hypoplasia of vagina	Hypoplasia of vagina
Hypospadias	Hypospadias
Low tension glaucoma	Low Tension Glaucoma		26752265
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	23453885
Ovarian gonadoblastoma	Ovarian gonadoblastoma
Penis agenesis	Penis agenesis
Physiologic amenorrhea	Primary physiologic amenorrhea
Proptosis	Exophthalmos
Streak ovary	Streak ovary
Testicular gonadoblastoma	Testicular gonadoblastoma
Testicular regression syndrome	Testicular regression syndrome