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HOOK2 (hook microtubule tethering protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29911
Gene nameGene Name - the full gene name approved by the HGNC.
Hook microtubule tethering protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HOOK2
SynonymsGene synonyms aliases
HK2
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
SummarySummary of gene provided in NCBI Entrez Gene.
Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocyt
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1052734 hsa-miR-1293 CLIP-seq
MIRT1052735 hsa-miR-4483 CLIP-seq
MIRT1052736 hsa-miR-4786-3p CLIP-seq
MIRT1052737 hsa-miR-671-5p CLIP-seq
MIRT2011986 hsa-miR-1200 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 17140400, 18799622, 19273536, 21516116, 23414517, 25416956, 31515488, 31980649
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005813 Component Centrosome IBA 21873635
GO:0005813 Component Centrosome IDA 17140400
GO:0005829 Component Cytosol IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96ED9
Protein name Protein Hook homolog 2 (h-hook2) (hHK2)
Protein function Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintena
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19047 HOOK_N
7 157
HOOK domain
Domain
PF05622 HOOK
179 705
HOOK protein coiled-coil region
Coiled-coil
Sequence
Sequence length 719
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Aicardi goutieres syndrome AICARDI-GOUTIERES SYNDROME, AICARDI-GOUTIERES SYNDROME 4 rs78635798, rs75184679, rs74555752, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs72556554, rs78218009, rs74556809, rs78408272, rs78846775, rs121908117, rs76857106, rs387906948, rs138603088, rs398122893, rs398122894, rs398122822, rs398122895, rs398122896, rs398122897, rs398122898, rs397515479, rs75718910, rs397515480, rs77103971, rs149846637, rs74689946, rs77371662, rs74876396, rs78762691, rs76642637, rs78300695, rs79318303, rs369587937, rs515726141, rs369035155, rs515726146, rs768943773, rs587777445, rs587777446, rs587777447, rs587777448, rs672601336, rs587777449, rs587777575, rs587777576, rs376048533, rs786205483, rs200773268, rs760594164, rs748914604, rs184953805, rs777313709, rs753679297, rs367915667, rs1553207540, rs779357448, rs1555257383, rs774964432, rs372632599, rs75186889, rs1452451283, rs1568762986, rs1303667371, rs1575293518, rs768724007, rs1559810905, rs549586181, rs781284373, rs1571046959, rs75325951, rs79310911, rs768409471, rs1219206348, rs1335417539, rs1601144527, rs752442185, rs1593470515, rs77301371, rs1571110158, rs1575295176, rs768019897, rs1601141002, rs1576219706, rs138373022, rs1576222015, rs765887304, rs1238832404, rs774958328, rs1576222803, rs1576222845, rs201472224, rs1576224269, rs753599401, rs1576226604, rs753383954, rs1576226728, rs1576227162, rs1576229572, rs1180888940, rs1331920811, rs769561543, rs2063480012, rs1300333132, rs1442728513, rs1951857498 21454563, 17846997, 23592335, 20131292, 24183309
Autism Autistic behavior rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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 26503814
Unknown
Disease name Disease term dbSNP ID References
Strabismus Strabismus

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