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FKBP14 (FKBP prolyl isomerase 14)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55033
Gene nameGene Name - the full gene name approved by the HGNC.
FKBP prolyl isomerase 14
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FKBP14
SynonymsGene synonyms aliases
EDSKMH, EDSKSCL2, FKBP22, IPBP12
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018653 hsa-miR-335-5p Microarray 18185580
MIRT023029 hsa-miR-124-3p Microarray 18668037
MIRT030076 hsa-miR-26b-5p Microarray 19088304
MIRT703559 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT703558 hsa-miR-4635 HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000413 Process Protein peptidyl-prolyl isomerization IEA
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NWM8
Protein name Peptidyl-prolyl cis-trans isomerase FKBP14 (PPIase FKBP14) (EC 5.2.1.8) (22 kDa FK506-binding protein) (22 kDa FKBP) (FKBP-22) (FK506-binding protein 14) (FKBP-14) (Rotamase)
Protein function PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens. {ECO:0000269|PubMed
PDB 4DIP , 4MSP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00254 FKBP_C
38 → 132
FKBP-type peptidyl-prolyl cis-trans isomerase
 Domain
PF13499 EF-hand_7
138 → 207
EF-hand domain pair
 Domain
Sequence
Sequence length 211
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    XBP1(S) activates chaperone genes
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital muscular dystrophy Congenital muscular dystrophy (disorder) rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117, rs387907069, rs786205118, rs267607600, rs61672878, rs57629361, rs61444459, rs60872029, rs587780362, rs141554661, rs864309525, rs371751084, rs914395925, rs1060505038, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757, rs776548207, rs1554269966, rs373091820, rs1553261891, rs1474512248, rs1333100080, rs1246940477, rs1554320168, rs372328960, rs1217190017, rs750756707, rs1555894289, rs1296761337, rs1562530132, rs1569054508, rs1565622052, rs1415944134, rs1565620275, rs752436924, rs1569054086, rs1583149141, rs17854600, rs757369551, rs755438542, rs1872274494, rs1874440714
Ehlers-danlos syndrome Ehlers-Danlos syndrome type 6 rs121917817, rs121917818, rs28937869, rs764070148, rs144556766, rs121913550, rs121913552, rs80338764, rs121912933, rs786205103, rs786205104, rs121912930, rs397509369, rs113485686, rs121912914, rs397509370, rs587779443, rs869312034, rs397509371, rs121912927, rs121912915, rs121912928, rs397509372, rs397509373, rs397509374, rs121912916, rs121912917, rs121912918, rs112456072, rs387906557, rs397509375, rs121912920, rs397509376, rs121912921, rs121912922, rs121912923, rs121912924, rs121912925, rs121912926, rs1553507557, rs72656357, rs67398234, rs66820119, rs72656364, rs72656355, rs67162110, rs72659324, rs72645347, rs67828806, rs397509377, rs387906850, rs766853150, rs72656387, rs397514721, rs533071750, rs267599120, rs398122361, rs587779416, rs587779417, rs587779418, rs587779419, rs587779420, rs553203474, rs587779421, rs587779422, rs587779423, rs587779424, rs587779425, rs587779426, rs587779427, rs587779428, rs587779429, rs587779430, rs587779431, rs587779432, rs587779433, rs587779434, rs587779435, rs587779436, rs587779437, rs587779438, rs587779439, rs587779440, rs587779441, rs587779442, rs121912919, rs587779444, rs587779445, rs587779446, rs587779447, rs587779448, rs587779449, rs587779450, rs587779451, rs587779452, rs587779453, rs587779454, rs587779455, rs587779456, rs587779457, rs587779458, rs587779459, rs587779460, rs587779461, rs587779462, rs587779463, rs587779464, rs587779465, rs587779466, rs121912913, rs587779467, rs587779468, rs587779469, rs587779470, rs587779471, rs587779472, rs587779473, rs587779474, rs587779475, rs587779476, rs587779477, rs587779478, rs587779479, rs587779480, rs587779481, rs587779482, rs587779483, rs587779484, rs587779485, rs587779486, rs587779488, rs587779489, rs587779490, rs587779491, rs587779492, rs587779493, rs587779494, rs587779495, rs587779496, rs587779497, rs587779498, rs587779499, rs587779500, rs587779501, rs587779502, rs587779503, rs587779504, rs587779505, rs587779506, rs587779507, rs587779508, rs587779509, rs587779510, rs587779511, rs587779512, rs587779513, rs587779514, rs587779515, rs587779516, rs587779517, rs587779518, rs587779519, rs587779520, rs587779521, rs587779522, rs587779523, rs587779524, rs587779525, rs587779526, rs1559053784, rs587779527, rs587779528, rs587779529, rs587779530, rs587779531, rs587779532, rs587779533, rs587779534, rs587779535, rs587779536, rs587779537, rs587779539, rs587779540, rs587779541, rs587779542, rs587779543, rs587779544, rs587779545, rs587779546, rs587779547, rs587779548, rs587779549, rs587779550, rs587779551, rs587779552, rs587779553, rs587779554, rs587779555, rs587779556, rs587779557, rs587779558, rs587779559, rs587779560, rs587779561, rs587779562, rs587779563, rs587779564, rs587779566, rs587779567, rs587779568, rs587779569, rs587779570, rs587779571, rs587779572, rs587779573, rs587779574, rs587779575, rs587779576, rs587779577, rs587779578, rs587779579, rs587779580, rs587779581, rs587779582, rs587779583, rs587779584, rs587779586, rs587779587, rs587779588, rs587779589, rs587779590, rs587779591, rs587779592, rs587779593, rs587779594, rs587779595, rs587779596, rs587779597, rs587779598, rs587779599, rs587779600, rs587779601, rs587779602, rs1559061242, rs587779603, rs587779604, rs587779605, rs587779606, rs587779607, rs587779608, rs587779609, rs587779610, rs1559057346, rs587779611, rs587779612, rs587779613, rs587779614, rs587779615, rs587779616, rs587779617, rs587779618, rs1559055162, rs587779619, rs587779620, rs587779621, rs587779622, rs587779623, rs587779624, rs587779625, rs587779626, rs587779627, rs587779628, rs111505097, rs587779629, rs786200946, rs587779630, rs587779631, rs587779632, rs113871730, rs587779633, rs587779634, rs587779635, rs587779637, rs587779638, rs587779639, rs587779640, rs587779641, rs587779642, rs587779643, rs587779644, rs587779645, rs587779646, rs587779647, rs587779648, rs587779649, rs587779650, rs587779651, rs587779652, rs111929073, rs587779653, rs587779654, rs587779655, rs587779656, rs587779657, rs587779658, rs587779659, rs587779660, rs587779661, rs587779662, rs587779663, rs1553509630, rs587779664, rs587779665, rs587779666, rs587779667, rs587779668, rs587779669, rs587779670, rs587779671, rs112371422, rs587779672, rs587779673, rs587779674, rs587779675, rs587779676, rs587779677, rs587779678, rs587779679, rs587779680, rs587779681, rs587779682, rs587779683, rs587779684, rs587779685, rs587779686, rs587779687, rs587779688, rs587779689, rs587779690, rs587779691, rs587779692, rs587779693, rs587779694, rs587779695, rs587779696, rs587779697, rs587779698, rs587779699, rs587779700, rs587779701, rs587779702, rs587779703, rs587779704, rs1553508025, rs587779705, rs587779706, rs587779707, rs587779708, rs587779709, rs587779710, rs587779711, rs587779712, rs587779713, rs587779714, rs587779715, rs587779716, rs587779717, rs587779718, rs587779719, rs587779720, rs587779721, rs587779722, rs587779723, rs587777682, rs794728040, rs794728044, rs794728054, rs794728060, rs863223491, rs375845310, rs878853651, rs187063864, rs886038952, rs886038892, rs72656370, rs67507747, rs886042045, rs886042173, rs1057518075, rs1057518372, rs749890642, rs74315111, rs1057518653, rs1057519596, rs1057521106, rs1060500194, rs587779487, rs1060500199, rs1060500187, rs1060500200, rs1060500204, rs1060500203, rs1060500193, rs72658185, rs1114167416, rs67865220, rs72648326, rs72645321, rs72667036, rs1114167408, rs1085307896, rs1131691996, rs1553509397, rs1554227382, rs1554796176, rs1553509187, rs1553507265, rs1057524653, rs1553509744, rs1553507274, rs1553509430, rs72656356, rs786205100, rs1213427451, rs1555572239, rs1554781678, rs1553508338, rs72656363, rs1553507863, rs1553508039, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1393544920, rs1553510000, rs72658129, rs1553151294, rs1553507432, rs1553507614, rs1553509208, rs1553509391, rs1553508238, rs1410254723, rs1179967153, rs1553509726, rs1553508473, rs1559058970, rs1559061674, rs112532745, rs1559052551, rs375737772, rs1559061706, rs1559056621, rs1559052609, rs1559059873, rs1559060412, rs1559061954, rs1559063681, rs1576465155, rs1559058482, rs1234344050, rs1564481053, rs1559054653, rs1173194734, rs1562906013, rs1439043436, rs1576463632, rs1576463663, rs772827388, rs1576467133, rs755528878, rs1576468160, rs1576468332, rs1576472890, rs1576474929, rs776640704, rs1576463100, rs1576468385, rs1576473641, rs201314784, rs1588562135, rs1576468562, rs1576471840, rs1333421028, rs1584318648, rs1584318956, rs1584319045, rs1584325552, rs1584329740, rs1588597744, rs1576467391, rs1588477255, rs1588621711, rs1688258933, rs1688305296, rs1688322272, rs1688384382, rs1688417659, rs1688529460, rs1688561706, rs1688586251, rs1685782021, rs1686209873, rs1553506938 27149304
Kyphoscoliotic ehlers-danlos syndrome EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2, Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency rs121913550, rs121913551, rs797044446, rs797044447, rs121913552, rs797044448, rs121913553, rs121913554, rs745409628, rs565513365, rs886042976, rs886043926, rs886043927, rs1553137486, rs1389548210, rs1557054873, rs1433428588, rs1401035675, rs1224538282, rs1557500194, rs1569713366, rs1439043436, rs112460511, rs1569724692, rs1645855563 27149304, 22265013, 24677762, 28617417
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
Unknown
Disease name Disease term dbSNP ID References
Acquired kyphoscoliosis Acquired Kyphoscoliosis
Congenital kyphoscoliosis Congenital kyphoscoliosis
High-frequency sensorineural hearing impairment High-frequency sensorineural hearing impairment
Microcornea Microcornea

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