FEZF1 (FEZ family zinc finger 1)

Gene

• Entrez ID: 389549
• Gene name: FEZ family zinc finger 1
• Gene symbol: FEZF1
• Synonyms: FEZ, HH22, ZNF312B
• Chromosome: 7
• Chromosome location: 7q31.32
• Summary: This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in thi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT995046	hsa-miR-3591-3p	CLIP-seq
MIRT995047	hsa-miR-300	CLIP-seq
MIRT995048	hsa-miR-3163	CLIP-seq
MIRT995049	hsa-miR-338-5p	CLIP-seq
MIRT995050	hsa-miR-381	CLIP-seq
MIRT995051	hsa-miR-4282	CLIP-seq
MIRT995052	hsa-miR-4666-3p	CLIP-seq
MIRT2229121	hsa-miR-128	CLIP-seq
MIRT2229122	hsa-miR-329	CLIP-seq
MIRT2229123	hsa-miR-362-3p	CLIP-seq
MIRT2229124	hsa-miR-3941	CLIP-seq
MIRT2229125	hsa-miR-425	CLIP-seq
MIRT2229126	hsa-miR-603	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007411	Process	Axon guidance	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021797	Process	Forebrain anterior/posterior pattern specification	IEA
GO:0043697	Process	Cell dedifferentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA

Other IDs

• MIM: 613301
• HGNC: 22788
• e!Ensembl: ENSG00000128610

Protein

• UniProt ID: A0PJY2
• Protein name: Fez family zinc finger protein 1 (Zinc finger protein 312B)
• Protein function: Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cel
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	260 → 282	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	288 → 310	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	316 → 338	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	344 → 366	Zinc finger, C2H2 type	Domain
  PF13912	zf-C2H2_6	371 → 397		Domain
  PF00096	zf-C2H2	400 → 423	Zinc finger, C2H2 type	Domain

• Sequence:

  MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGE
  PKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDL
  LNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHP
  VASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEK
  IAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQA
  STLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYK
  NHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVR
  KLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ

• Sequence length: 475

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypogonadotropic hypogonadism with or without anosmia	HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA	rs387906271, rs121918340, rs606231136, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514, rs2146817110, rs137852515, rs2146819139, rs2146919315, rs137852516, rs387906427, rs121918124, rs121918125, rs587777758, rs104893836, rs104893837, rs28933074, rs104893838, rs104893839, rs104893840, rs104893841, rs104893842, rs104893843, rs104893844, rs797044452, rs74452732, rs104893847, rs5030646, rs5030776, rs121909666, rs121909627, rs1586111679, rs1563433902, rs121909628, rs121909629, rs1586287678, rs121909630, rs121909635, rs267606805, rs121909636, rs121909638, rs121909639, rs587776835, rs121909640, rs121909642, rs121909643, rs121909645, rs281865427, rs587777835, rs761325768, rs2104908342, rs886037634, rs397515446, rs398123024, rs398123025, rs398124651, rs398124652, rs398124653, rs398124654, rs369641068, rs145221454, rs587776980, rs587776981, rs886037637, rs398122393, rs144292455, rs397515483, rs397518425, rs398124321, rs515726220, rs515726223, rs515726224, rs515726225, rs10835638, rs606231406, rs369176613, rs606231409, rs587777739, rs587777740, rs587777864, rs587783457, rs727505375, rs727505367, rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs727505372, rs727505374, rs764659822, rs5030777, rs794727423, rs876661334, rs876661330, rs876661329, rs886039395, rs886039881, rs886037916, rs886040962, rs1057519418, rs374623109, rs1057520209, rs1057520210, rs1060499663, rs773138384, rs1131692039, rs932845258, rs1554570706, rs1554834303, rs1555904591, rs747010865, rs1554603970, rs1555893221, rs1554564353, rs1554594114, rs1602050730, rs1584891562, rs1601946139, rs1586083500, rs1586375906, rs1601965037, rs1601988004, rs1586462917, rs760022956, rs1727077385, rs1726901153, rs1726871489	25192046
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Unknown
Disease name	Disease term	dbSNP ID	References
Breast hypoplasia	Congenital hypoplasia of breast
Dysarthria	Dysarthria
Gynecomastia	Gynecomastia
Hypogonadism	Hypogonadism
Hypopituitarism	Anterior hypopituitarism
Kallmann syndrome	Kallmann Syndrome		25192046
Paraplegia	Paraplegia
Penis agenesis	Penis agenesis
Physiologic amenorrhea	Primary physiologic amenorrhea
Ptosis	Blepharoptosis, Ptosis	rs139920573
Renal agenesis	Congenital absence of kidneys syndrome