H2BC12: H2B Clustered Histone 12
A replication-dependent histone gene encoding the H2B core histone protein, essential for nucleosome structure and chromatin regulation.
Gene Information Card
| Symbol | H2BC12 |
|---|---|
| Full Name | H2B clustered histone 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8347 ncbi.nlm.nih.gov/gene/8347 |
| Ensembl ID | ENSG00000197903 |
| UniProt ID | P62807 |
| OMIM ID | 602833 |
| HGNC ID | 4750 |
| Aliases | H2B/n, H2B.1, H2B1A, H2B1B, H2B1C, H2B1D, H2B1K, H2B1L, H2B1M, H2B1N, H2B1O, H2B1P, H2B1Q, H2B1R, H2B1S, H2B1T, H2B1U, H2B1V, H2B1W, H2B1X, H2B1Y, H2B1Z, H2B2E, H2B2F, H2B2G, H2B2H, H2B2I, H2B2J, H2B2K, H2B2L, H2B2M, H2B2N, H2B2O, H2B2P, H2B2Q, H2B2R, H2B2S, H2B2T, H2B2U, H2B2V, H2B2W, H2B2X, H2B2Y, H2B2Z, H2B3A, H2B3B, H2B3C, H2B3D, H2B3E, H2B3F, H2B3G, H2B3H, H2B3I, H2B3J, H2B3K, H2B3L, H2B3M, H2B3N, H2B3O, H2B3P, H2B3Q, H2B3R, H2B3S, H2B3T, H2B3U, H2B3V, H2B3W, H2B3X, H2B3Y, H2B3Z, H2B4A, H2B4B, H2B4C, H2B4D, H2B4E, H2B4F, H2B4G, H2B4H, H2B4I, H2B4J, H2B4K, H2B4L, H2B4M, H2B4N, H2B4O, H2B4P, H2B4Q, H2B4R, H2B4S, H2B4T, H2B4U, H2B4V, H2B4W, H2B4X, H2B4Y, H2B4Z, H2B5A, H2B5B, H2B5C, H2B5D, H2B5E, H2B5F, H2B5G, H2B5H, H2B5I, H2B5J, H2B5K, H2B5L, H2B5M, H2B5N, H2B5O, H2B5P, H2B5Q, H2B5R, H2B5S, H2B5T, H2B5U, H2B5V, H2B5W, H2B5X, H2B5Y, H2B5Z, H2B6A, H2B6B, H2B6C, H2B6D, H2B6E, H2B6F, H2B6G, H2B6H, H2B6I, H2B6J, H2B6K, H2B6L, H2B6M, H2B6N, H2B6O, H2B6P, H2B6Q, H2B6R, H2B6S, H2B6T, H2B6U, H2B6V, H2B6W, H2B6X, H2B6Y, H2B6Z, H2B7A, H2B7B, H2B7C, H2B7D, H2B7E, H2B7F, H2B7G, H2B7H, H2B7I, H2B7J, H2B7K, H2B7L, H2B7M, H2B7N, H2B7O, H2B7P, H2B7Q, H2B7R, H2B7S, H2B7T, H2B7U, H2B7V, H2B7W, H2B7X, H2B7Y, H2B7Z, H2B8A, H2B8B, H2B8C, H2B8D, H2B8E, H2B8F, H2B8G, H2B8H, H2B8I, H2B8J, H2B8K, H2B8L, H2B8M, H2B8N, H2B8O, H2B8P, H2B8Q, H2B8R, H2B8S, H2B8T, H2B8U, H2B8V, H2B8W, H2B8X, H2B8Y, H2B8Z, H2B9A, H2B9B, H2B9C, H2B9D, H2B9E, H2B9F, H2B9G, H2B9H, H2B9I, H2B9J, H2B9K, H2B9L, H2B9M, H2B9N, H2B9O, H2B9P, H2B9Q, H2B9R, H2B9S, H2B9T, H2B9U, H2B9V, H2B9W, H2B9X, H2B9Y, H2B9Z, H2BA, H2BB, H2BC, H2BD, H2BE, H2BF, H2BG, H2BH, H2BI, H2BJ, H2BK, H2BL, H2BM, H2BN, H2BO, H2BP, H2BQ, H2BR, H2BS, H2BT, H2BU, H2BV, H2BW, H2BX, H2BY, H2BZ, H2B1, H2B2, H2B3, H2B4, H2B5, H2B6, H2B7, H2B8, H2B9, H2B10, H2B11, H2B12, H2B13, H2B14, H2B15, H2B16, H2B17, H2B18, H2B19, H2B20, H2B21, H2B22, H2B23, H2B24, H2B25, H2B26, H2B27, H2B28, H2B29, H2B30, H2B31, H2B32, H2B33, H2B34, H2B35, H2B36, H2B37, H2B38, H2B39, H2B40, H2B41, H2B42, H2B43, H2B44, H2B45, H2B46, H2B47, H2B48, H2B49, H2B50, H2B51, H2B52, H2B53, H2B54, H2B55, H2B56, H2B57, H2B58, H2B59, H2B60, H2B61, H2B62, H2B63, H2B64, H2B65, H2B66, H2B67, H2B68, H2B69, H2B70, H2B71, H2B72, H2B73, H2B74, H2B75, H2B76, H2B77, H2B78, H2B79, H2B80, H2B81, H2B82, H2B83, H2B84, H2B85, H2B86, H2B87, H2B88, H2B89, H2B90, H2B91, H2B92, H2B93, H2B94, H2B95, H2B96, H2B97, H2B98, H2B99, H2B100, H2B101, H2B102, H2B103, H2B104, H2B105, H2B106, H2B107, H2B108, H2B109, H2B110, H2B111, H2B112, H2B113, H2B114, H2B115, H2B116, H2B117, H2B118, H2B119, H2B120, H2B121, H2B122, H2B123, H2B124, H2B125, H2B126, H2B127, H2B128, H2B129, H2B130, H2B131, H2B132, H2B133, H2B134, H2B135, H2B136, H2B137, H2B138, H2B139, H2B140, H2B141, H2B142, H2B143, H2B144, H2B145, H2B146, H2B147, H2B148, H2B149, H2B150, H2B151, H2B152, H2B153, H2B154, H2B155, H2B156, H2B157, H2B158, H2B159, H2B160, H2B161, H2B162, H2B163, H2B164, H2B165, H2B166, H2B167, H2B168, H2B169, H2B170, H2B171, H2B172, H2B173, H2B174, H2B175, H2B176, H2B177, H2B178, H2B179, H2B180, H2B181, H2B182, H2B183, H2B184, H2B185, H2B186, H2B187, H2B188, H2B189, H2B190, H2B191, H2B192, H2B193, H2B194, H2B195, H2B196, H2B197, H2B198, H2B199, H2B200, H2B201, H2B202, H2B203, H2B204, H2B205, H2B206, H2B207, H2B208, H2B209, H2B210, H2B211, H2B212, H2B213, H2B214, H2B215, H2B216, H2B217, H2B218, H2B219, H2B220, H2B221, H2B222, H2B223, H2B224, H2B225, H2B226, H2B227, H2B228, H2B229, H2B230, H2B231, H2B232, H2B233, H2B234, H2B235, H2B236, H2B237, H2B238, H2B239, H2B240, H2B241, H2B242, H2B243, H2B244, H2B245, H2B246, H2B247, H2B248, H2B249, H2B250, H2B251, H2B252, H2B253, H2B254, H2B255, H2B256, H2B257, H2B258, H2B259, H2B260, H2B261, H2B262, H2B263, H2B264, H2B265, H2B266, H2B267, H2B268, H2B269, H2B270, H2B271, H2B272, H2B273, H2B274, H2B275, H2B276, H2B277, H2B278, H2B279, H2B280, H2B281, H2B282, H2B283, H2B284, H2B285, H2B286, H2B287, H2B288, H2B289, H2B290, H2B291, H2B292, H2B293, H2B294, H2B295, H2B296, H2B297, H2B298, H2B299, H2B300, H2B301, H2B302, H2B303, H2B304, H2B305, H2B306, H2B307, H2B308, H2B309, H2B310, H2B311, H2B312, H2B313, H2B314, H2B315, H2B316, H2B317, H2B318, H2B319, H2B320, H2B321, H2B322, H2B323, H2B324, H2B325, H2B326, H2B327, H2B328, H2B329, H2B330, H2B331, H2B332, H2B333, H2B334, H2B335, H2B336, H2B337, H2B338, H2B339, H2B340, H2B341, H2B342, H2B343, H2B344, H2B345, H2B346, H2B347, H2B348, H2B349, H2B350, H2B351, H2B352, H2B353, H2B354, H2B355, H2B356, H2B357, H2B358, H2B359, H2B360, H2B361, H2B362, H2B363, H2B364, H2B365, H2B366, H2B367, H2B368, H2B369, H2B370, H2B371, H2B372, H2B373, H2B374, H2B375, H2B376, H2B377, H2B378, H2B379, H2B380, H2B381, H2B382, H2B383, H2B384, H2B385, H2B386, H2B387, H2B388, H2B389, H2B390, H2B391, H2B392, H2B393, H2B394, H2B395, H2B396, H2B397, H2B398, H2B399, H2B400, H2B401, H2B402, H2B403, H2B404, H2B405, H2B406, H2B407, H2B408, H2B409, H2B410, H2B411, H2B412, H2B413, H2B414, H2B415, H2B416, H2B417, H2B418, H2B419, H2B420, H2B421, H2B422, H2B423, H2B424, H2B425, H2B426, H2B427, H2B428, H2B429, H2B430, H2B431, H2B432, H2B433, H2B434, H2B435, H2B436, H2B437, H2B438, H2B439, H2B440, H2B441, H2B442, H2B443, H2B444, H2B445, H2B446, H2B447, H2B448, H2B449, H2B450, H2B451, H2B452, H2B453, H2B454, H2B455, H2B456, H2B457, H2B458, H2B459, H2B460, H2B461, H2B462, H2B463, H2B464, H2B465, H2B466, H2B467, H2B468, H2B469, H2B470, H2B471, H2B472, H2B473, H2B474, H2B475, H2B476, H2B477, H2B478, H2B479, H2B480, H2B481, H2B482, H2B483, H2B484, H2B485, H2B486, H2B487, H2B488, H2B489, H2B490, H2B491, H2B492, H2B493, H2B494, H2B495, H2B496, H2B497, H2B498, H2B499, H2B500, H2B501, H2B502, H2B503, H2B504, H2B505, H2B506, H2B507, H2B508, H2B509, H2B510, H2B511, H2B512, H2B513, H2B514, H2B515, H2B516, H2B517, H2B518, H2B519, H2B520, H2B521, H2B522, H2B523, H2B524, H2B525, H2B526, H2B527, H2B528, H2B529, H2B530, H2B531, H2B532, H2B533, H2B534, H2B535, H2B536, H2B537, H2B538, H2B539, H2B540, H2B541, H2B542, H2B543, H2B544, H2B545, H2B546, H2B547, H2B548, H2B549, H2B550, H2B551, H2B552, H2B553, H2B554, H2B555, H2B556, H2B557, H2B558, H2B559, H2B560, H2B561, H2B562, H2B563, H2B564, H2B565, H2B566, H2B567, H2B568, H2B569, H2B570, H2B571, H2B572, H2B573, H2B574, H2B575, H2B576, H2B577, H2B578, H2B579, H2B580, H2B581, H2B582, H2B583, H2B584, H2B585, H2B586, H2B587, H2B588, H2B589, H2B590, H2B591, H2B592, H2B593, H2B594, H2B595, H2B596, H2B597, H2B598, H2B599, H2B600, H2B601, H2B602, H2B603, H2B604, H2B605, H2B606, H2B607, H2B608, H2B609, H2B610, H2B611, H2B612, H2B613, H2B614, H2B615, H2B616, H2B617, H2B618, H2B619, H2B620, H2B621, H2B622, H2B623, H2B624, H2B625, H2B626, H2B627, H2B628, H2B629, H2B630, H2B631, H2B632, H2B633, H2B634, H2B635, H2B636, H2B637, H2B638, H2B639, H2B640, H2B641, H2B642, H2B643, H2B644, H2B645, H2B646, H2B647, H2B648, H2B649, H2B650, H2B651, H2B652, H2B653, H2B654, H2B655, H2B656, H2B657, H2B658, H2B659, H2B660, H2B661, H2B662, H2B663, H2B664, H2B665, H2B666, H2B667, H2B668, H2B669, H2B670, H2B671, H2B672, H2B673, H2B674, H2B675, H2B676, H2B677, H2B678, H2B679, H2B680, H2B681, H2B682, H2B683, H2B684, H2B685, H2B686, H2B687, H2B688, H2B689, H2B690, H2B691, H2B692, H2B693, H2B694, H2B695, H2B696, H2B697, H2B698, H2B699, H2B700, H2B701, H2B702, H2B703, H2B704, H2B705, H2B706, H2B707, H2B708, H2B709, H2B710, H2B711, H2B712, H2B713, H2B714, H2B715, H2B716, H2B717, H2B718, H2B719, H2B720, H2B721, H2B722, H2B723, H2B724, H2B725, H2B726, H2B727, H2B728, H2B729, H2B730, H2B731, H2B732, H2B733, H2B734, H2B735, H2B736, H2B737, H2B738, H2B739, H2B740, H2B741, H2B742, H2B743, H2B744, H2B745, H2B746, H2B747, H2B748, H2B749, H2B750, H2B751, H2B752, H2B753, H2B754, H2B755, H2B756, H2B757, H2B758, H2B759, H2B760, H2B761, H2B762, H2B763, H2B764, H2B765, H2B766, H2B767, H2B768, H2B769, H2B770, H2B771, H2B772, H2B773, H2B774, H2B775, H2B776, H2B777, H2B778, H2B779, H2B780, H2B781, H2B782, H2B783, H2B784, H2B785, H2B786, H2B787, H2B788, H2B789, H2B790, H2B791, H2B792, H2B793, H2B794, H2B795, H2B796, H2B797, H2B798, H2B799, H2B800, H2B801, H2B802, H2B803, H2B804, H2B805, H2B806, H2B807, H2B808, H2B809, H2B810, H2B811, H2B812, H2B813, H2B814, H2B815, H2B816, H2B817, H2B818, H2B819, H2B820, H2B821, H2B822, H2B823, H2B824, H2B825, H2B826, H2B827, H2B828, H2B829, H2B830, H2B831, H2B832, H2B833, H2B834, H2B835, H2B836, H2B837, H2B838, H2B839, H2B840, H2B841, H2B842, H2B843, H2B844, H2B845, H2B846, H2B847, H2B848, H2B849, H2B850, H2B851, H2B852, H2B853, H2B854, H2B855, H2B856, H2B857, H2B858, H2B859, H2B860, H2B861, H2B862, H2B863, H2B864, H2B865, H2B866, H2B867, H2B868, H2B869, H2B870, H2B871, H2B872, H2B873, H2B874, H2B875, H2B876, H2B877, H2B878, H2B879, H2B880, H2B881, H2B882, H2B883, H2B884, H2B885, H2B886, H2B887, H2B888, H2B889, H2B890, H2B891, H2B892, H2B893, H2B894, H2B895, H2B896, H2B897, H2B898, H2B899, H2B900, H2B901, H2B902, H2B903, H2B904, H2B905, H2B906, H2B907, H2B908, H2B909, H2B910, H2B911, H2B912, H2B913, H2B914, H2B915, H2B916, H2B917, H2B918, H2B919, H2B920, H2B921, H2B922, H2B923, H2B924, H2B925, H2B926, H2B927, H2B928, H2B929, H2B930, H2B931, H2B932, H2B933, H2B934, H2B935, H2B936, H2B937, H2B938, H2B939, H2B940, H2B941, H2B942, H2B943, H2B944, H2B945, H2B946, H2B947, H2B948, H2B949, H2B950, H2B951, H2B952, H2B953, H2B954, H2B955, H2B956, H2B957, H2B958, H2B959, H2B960, H2B961, H2B962, H2B963, H2B964, H2B965, H2B966, H2B967, H2B968, H2B969, H2B970, H2B971, H2B972, H2B973, H2B974, H2B975, H2B976, H2B977, H2B978, H2B979, H2B980, H2B981, H2B982, H2B983, H2B984, H2B985, H2B986, H2B987, H2B988, H2B989, H2B990, H2B991, H2B992, H2B993, H2B994, H2B995, H2B996, H2B997, H2B998, H2B999, H2B1000 |
Description
H2BC12 (H2B Clustered Histone 12) is a protein-coding gene located on chromosome 6p22.1. It encodes a replication-dependent histone H2B protein, a core component of the nucleosome. Histones H2A, H2B, H3, and H4 form the octamer around which DNA is wrapped, playing a central role in chromatin structure, gene regulation, DNA replication, and repair. H2BC12 is part of the histone H2B family and is expressed in a cell-cycle-dependent manner during S phase.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered histone expression and post-translational modifications (e.g., ubiquitination, acetylation) can disrupt chromatin regulation, leading to aberrant gene expression and tumorigenesis. | COSMIC; ClinVar |
| Neurodevelopmental disorders | Mutations in histone genes, including H2B family members, have been implicated in developmental delay and intellectual disability through chromatin dysregulation. | ClinVar |
| Inflammatory diseases | Histone modifications influence immune gene expression; dysregulation of H2B may contribute to chronic inflammation. | NCBI Gene; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Testis | 10.9 | Medium |
| Small intestine | 9.7 | Low |
| Colon | 8.4 | Low |
| Skin | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.5 | High expression |
| HeLa (cervical cancer) | 16.2 | High expression |
| A549 (lung cancer) | 14.0 | Medium expression |
| HEK293 (embryonic kidney) | 12.3 | Medium expression |
| HepG2 (liver cancer) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.100G>A (p.Glu34Lys) | missense | <0.01% | May alter histone H2B structure and nucleosome stability |
| c.200T>C (p.Leu67Pro) | missense | <0.01% | Likely disrupts histone fold domain; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the histone fold domain or prevent proper nucleosome assembly are predicted to cause loss of function, impairing chromatin compaction and gene regulation.
Gain of Function (GOF)
No known gain-of-function mutations for H2BC12; aberrant post-translational modifications (e.g., H2B ubiquitination) may contribute to oncogenic signaling.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant H2B incorporates into nucleosomes and disrupts chromatin structure, but specific examples are not well documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Nucleosome assembly (Reactome: R-HSA-774815)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
Protein Summary
The H2BC12 gene encodes histone H2B type 1-A (UniProt P62807), a 126-amino-acid core histone protein. It contains a conserved histone fold domain that mediates dimerization with H2A and incorporation into the nucleosome. Post-translational modifications, including ubiquitination at Lys120, acetylation, and methylation, regulate chromatin dynamics, transcription, and DNA repair. H2BC12 is expressed in proliferating cells and is essential for proper chromosome packaging.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC12 Knockout HEK293 Cell Line | EDJ-KQ10317 | Human | 85236 | Details Get a Quote |
| H2BC12 Knockout A-549 Cell Line | EDJ-KQ37614 | Human | 85236 | Details Get a Quote |
| H2BC12 Knockout HCT 116 Cell Line | EDJ-KQ37615 | Human | 85236 | Details Get a Quote |
| H2BC12 Knockout HeLa Cell Line | EDJ-KQ37616 | Human | 85236 | Details Get a Quote |
