ZFPM2 (zinc finger protein, FOG family member 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23414 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Zinc finger protein, FOG family member 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ZFPM2 |
SynonymsGene synonyms aliases
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DIH3, FOG2, SRXY9, ZC2HC11B, ZNF89B, hFOG-2 |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q23.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008] |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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miRTarBase ID |
miRNA |
Experiments |
Reference |
MIRT004621 |
hsa-miR-141-3p |
Luciferase reporter assay, Western blot, Reporter assay |
20005803 |
MIRT004622 |
hsa-miR-200a-3p |
Luciferase reporter assay, Western blot, Reporter assay |
20005803 |
MIRT004623 |
hsa-miR-200b-3p |
Luciferase reporter assay, Western blot, Reporter assay |
20005803 |
MIRT004623 |
hsa-miR-200b-3p |
Luciferase reporter assay, Western blot |
24412919 |
MIRT004624 |
hsa-miR-200c-3p |
Luciferase reporter assay, Western blot, Reporter assay |
20005803 |
MIRT004625 |
hsa-miR-429 |
Luciferase reporter assay, Western blot, Reporter assay |
20005803 |
MIRT028872 |
hsa-miR-26b-5p |
Microarray |
19088304 |
MIRT732745 |
hsa-miR-184 |
Immunoblot, Luciferase reporter assay, qRT-PCR |
27825105 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity). |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12874 |
zf-met |
1119 → 1139 |
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Domain |
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Sequence |
MSRRKQSKPRQIKRPLEDAIEDEEEECPSEETDIISKGDFPLEESFSTEFGPENLSCEEV EYFCNKGDDEGIQETAESDGDTQSEKPGQPGVETDDWDGPGELEVFQKDGERKIQSRQQL PVGTTWGPFPGKMDLNNNSLKTKAQVPMVLTAGPKWLLDVTWQGVEDNKNNCIVYSKGGQ LWCTTTKAISEGEELIAFVVDFDSRLQAASQMTLTEGMYPARLLDSIQLLPQQAAMASIL PTAIVNKDIFPCKSCGIWYRSERNLQAHLMYYCSGRQREAAPVSEENEDSAHQISSLCPF PQCTKSFSNARALEMHLNSHSGVKMEEFLPPGASLKCTVCSYTADSVINFHQHLFSHLTQ AAFRCNHCHFGFQTQRELLQHQELHVPSGKLPRESDMEHSPSATEDSLQPATDLLTRSEL PQSQKAMQTKDASSDTELDKCEKKTQLFLTNQRPEIQPTTNKQSFSYTKIKSEPSSPRLA SSPVQPNIGPSFPVGPFLSQFSFPQDITMVPQASEILAKMSELVHRRLRHGSSSYPPVIY SPLMPKGATCFECNITFNNLDNYLVHKKHYCSSRWQQMAKSPEFPSVSEKMPEALSPNTG QTSINLLNPAAHSADPENPLLQTSCINSSTVLDLIGPNGKGHDKDFSTQTKKLSTSSNND DKINGKPVDVKNPSVPLVDGESDPNKTTCEACNITFSRHETYMVHKQYYCATRHDPPLKR SASNKVPAMQRTMRTRKRRKMYEMCLPEQEQRPPLVQQRFLDVANLNNPCTSTQEPTEGL GECYHPRCDIFPGIVSKHLETSLTINKCVPVSKCDTTHSSVSCLEMDVPIDLSKKCLSQS ERTTTSPKRLLDYHECTVCKISFNKVENYLAHKQNFCPVTAHQRNDLGQLDGKVFPNPES ERNSPDVSYERSIIKCEKNGNLKQPSPNGNLFSSHLATLQGLKVFSEAAQLIATKEENRH LFLPQCLYPGAIKKAKGADQLSPYYGIKPSDYISGSLVIHNTDIEQSRNAENESPKGQAS SNGCAALKKDSLPLLPKNRGMVIVNGGLKQDERPAANPQQENISQNPQHEDDHKSPSWIS ENPLAANENVSPGIPSAEEQLSSIAKGVNGSSQAPTSGKYCRLCDIQFNNLSNFITHKKF YCSSHAAEHVK
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Sequence length |
1151 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Conotruncal heart defect |
CONOTRUNCAL HEART MALFORMATIONS (disorder) |
rs267606914, rs587777422 |
20807224 |
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 |
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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, 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 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, 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 |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
21790008 |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder |
rs120074176, rs786205019 |
23453885 |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
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, rs-1, 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 |
Tetralogy of fallot |
Tetralogy of Fallot |
rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288, rs-1 |
20807224, 16103912, 24702427, 14517948 |
Double outlet right ventricle |
Double Outlet Right Ventricle |
rs397514520, rs397514521 |
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Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591 |
21525063 |
Brachydactyly |
Brachydactyly |
rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs-1, 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 |
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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 |
46, xy partial gonadal dysgenesis |
46,XY partial gonadal dysgenesis |
rs193922688 |
24549039 |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
rs-1 |
30940143 |
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
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Nephroblastoma |
Nephroblastoma |
rs1553551874, rs1555913934, rs769116796 |
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Azoospermia |
Azoospermia |
rs200969445, rs144567652, rs765353898 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
23453885 |
Pulmonary hypoplasia |
Congenital hypoplasia of lung |
rs1569032634 |
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Ambiguous genitalia |
Ambiguous Genitalia |
rs782562963 |
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Bipolar disorder |
Bipolar Disorder |
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23453885 |
Camptodactyly of fingers |
Clinodactyly of the 5th finger |
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Cardiovascular diseases |
Cardiovascular Diseases |
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30595370 |
Congenital malrotation of intestine |
Congenital malrotation of intestine |
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Development disorder |
Child Development Disorders, Pervasive |
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23453885 |
Dolichocephaly |
Long narrow head |
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Gonadal dysgenesis |
Gonadal Dysgenesis, Gonadal Dysgenesis, 46,XY |
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16103912 |
Gynecomastia |
Gynecomastia |
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Hypertrophy of clitoris |
Hypertrophy of clitoris |
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Hypogonadism |
Primary hypogonadism |
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Hypoplasia of vagina |
Hypoplasia of vagina |
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Hypospadias |
Hypospadias |
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Low tension glaucoma |
Low Tension Glaucoma |
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26752265 |
Ovarian gonadoblastoma |
Ovarian gonadoblastoma |
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Penis agenesis |
Penis agenesis |
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Physiologic amenorrhea |
Primary physiologic amenorrhea |
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Proptosis |
Exophthalmos |
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Streak ovary |
Streak ovary |
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Testicular gonadoblastoma |
Testicular gonadoblastoma |
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Testicular regression syndrome |
Testicular regression syndrome |
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