基因總覽
SMARCA4 是蛋白質編碼基因，其產物為 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4，屬於 SNF2/RAD54 helicase family。此蛋白質是 SWI/SNF 染色質重塑複合體的重要催化次單元之一；相關複合體會依發育階段與組織而採用不同的次單元組合。其蛋白質包含 Helicase ATP-binding、Helicase C-terminal 與 Bromo 等結構域，並有多段預測為無序的區域。
基因異名與舊稱
異名取自 HGNC，可能包含歷史名稱；蛋白質名稱以 UniProt 註解為準。
染色體位置與基因結構
查看實際轉錄本與 exon 註解
| Transcript | Genomic coordinates | Exons |
|---|---|---|
| ENST00000344626 ★ | 10,961,030–11,062,273 | 35 |
| ENST00000643549 | 10,960,824–11,065,393 | 35 |
| ENST00000642726 | 10,960,824–11,065,393 | 35 |
| ENST00000646484 | 10,960,824–11,065,393 | 34 |
| ENST00000644737 | 10,960,824–11,065,393 | 34 |
| ENST00000642628 | 10,960,824–11,065,393 | 35 |
| ENST00000643296 | 10,960,824–11,065,393 | 34 |
| ENST00000647230 | 10,960,824–11,065,393 | 34 |
| ENST00000711079 | 10,960,824–11,065,393 | 36 |
| ENST00000646510 | 10,960,824–11,065,393 | 35 |
| ENST00000429416 | 10,960,824–11,065,393 | 36 |
| ENST00000645460 | 10,960,824–11,065,393 | 34 |
顯示 12/84 個蛋白質編碼轉錄本；canonical 優先。
帶型與著絲點依 Ensembl 座標繪製；核染色體長度以 GRCh38 第 1 號染色體為共同尺度。黃色標記表示本基因位置，細小區間加粗以利辨識；實際基因長度與 exon 見下方資料。
分子功能與生物學過程
SMARCA4 是 ATPase，參與特定基因的轉錄活化與抑制。作為 SWI/SNF 染色質重塑複合體的組成部分，它以 ATP 水解提供能量，改變核小體內 DNA 與 histone 的接觸，進而調整 DNA－核小體拓撲與染色質結構。其反應可表示為 ATP 與水生成 ADP、磷酸及氫離子；此酵素活動使特定基因的調控區域能配合轉錄狀態改變。
在神經元中，CREST-BRG1 complex 參與啟動子活化。靜止狀態下，SMARCA4 依賴的 phospho-RB1-HDAC repressor complex 招募會抑制 c-FOS promoter 的轉錄。鈣離子流入後，calcineurin 使 RB1 去磷酸化，促使抑制複合體釋出；同時，CREST-dependent 機制增加 CREBBP 在啟動子的招募，帶動轉錄活化。該複合體也結合 NR2B promoter；依相似性推定，神經活動依賴的 NR2B 表現誘導涉及 HDAC1 釋出與 CREBBP 招募。
神經發育期間，神經幹／前驅細胞轉變為退出細胞週期的神經元時，染色質重塑複合體會更換次單元：含 ACTL6A/BAF53A 與 PHF10/BAF45A 的 npBAF，轉為使用 ACTL6B/BAF53B，以及 DPF1/BAF45B 或 DPF3/BAF45C 的 nBAF。npBAF 對多能神經幹細胞的自我更新與增殖能力至關重要；nBAF 與 CREST 則參與調節對樹突生長重要的基因。依相似性推定，SMARCA4/BAF190A 可能藉增強 Notch 依賴的增殖訊號支持神經幹細胞自我更新，同時降低其對 SHH 依賴分化訊號的敏感性。
在其他轉錄情境中，SMARCA4 作為 ZEB1 的共抑制因子調節 E-cadherin 轉錄，且是 ZEB1 誘導上皮－間質轉換所需的因子。它也可經由 DLX1 結合 DLX5 與 DLX6 之間的增強子；依相似性推定，長鏈非編碼 RNA Evf2 可穩定此結合。SMARCA4 另被描述為能以非專一方式結合 RNA，並依相似性推定參與棕色脂肪組織產熱基因的表現調節。
Promoter 與基因調控
>SMARCA4 ENST00000344626 GRCh38 chr19:10960030-10961130 strand=1 5′→3′ 相對 TSS：-1000 到 +100 bp；1101 bp 依轉錄本 TSS 擷取的基因組序列；TSS = 0，兩端包含，未驗證為 promoter TTTTGTATTTTTAGTAAAGACGGGGTTTCACCGTGTTAGCCAGGATAGTCTCATCTCCTGACCTCATGAT CCACCAGCCTAGGCCTCCCTAAGTGCTGGGATTACAGGCATGAGCTACCGCGCCCGGCTAATTTTTGTAT TTTTAATAGAGACGGGTTTCACCATGGTGGTCAGGCTCGTTTCTAACTCCCGACCTCAGGTGATCCGGCC GCCTCGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACCAAGTCCGGCCTCTCATACTGCACTATTT TGCTTATTAATCTTGCTTCTTGTCCTCCTTCCCCACTAGACCGAGGGCTCCACGGCGGCTGGGACACAGT AGCAGATCAATAAATATTTGCTAAGCTAATTAATGGCACTTGGGAAGTTTTGCAGAGAAGGCGGCCACGG TCGGGCCCCGCCTTGCCTCCCCAAATAGGCCTCGCCGCCCCAGGTCAGGGATCAAAGCGGTTCCCAGGCG CGCCCTTGGCCCGCGGGAAACCACTGCCCGGTCTTGGTCCAGGCGGCCCGTCCTACGGTCCAGGGTTCCT ATTTCCGAGCCTCAGGGACCTCCTTTCCCCACGGACCCCACGGCCACCGGGATCCCATTCTCCAGTTGCC CCATCGTCACCGCGGCCGCCGCCACCGCCGCCGCAGTGGCGTCCGCTCTGCGCATGCTCCGGGGCGTCAA GACGCGAGGCGTGCAGAAGGCGAAGCGTGCGCAGGCGCGGGGCCATCGCGGCCCGAGTGGGGCGGTGCAT CGGACGCGCGTGCTTCCTCCGGGCCACGCCCACCCCCGTCCGCCCAGGGACGGGCGCGCACGCGCGCCGG GAGCGGAAGGGCGGGCTGGCGCGCGCACGAGGCCGGGCAGGCGGCGGAAGCTGGAGAGGCCGCCGCGGTG CTGAGGGGGAGGGGAGCCGGCGAGCGCGCGCGCAGCGGGGGCGCGGGTGGCGCGCGTGTGTGTGAAGGGG GGGCGGTGGCCGAGGCGGGCGGGCGCGCGCGCGAGGCTTCCCCTCGTTTGGCGGCGGCGGCGGCTTCTTT GTTTCGTGAAGAGAAGCGAGACGCCCATTCTGCCCCCGGCCCCGCGCGGAG
EPDnew 實驗支持 promoter／TSS · 2 筆
| EPDnew ID | TSS（1-based） | 股向 | 來源顯示區間 |
|---|---|---|---|
| SMARCA4_3 ↗ | 19:10,960,904 | 正股 | 10,960,855–10,960,914 |
| SMARCA4_2 ↗ | 19:10,961,030 | 正股 | 10,960,981–10,961,040 |
EPDnew human v006 · UCSC hg38，GRCh38/hg38，透過 UCSC 取得。TSS 具有 CAGE／RAMPAGE 等實驗資料支持；任意擷取的上下游區間仍需另行判讀調控功能，不能視為整段皆經功能驗證。
EPD 封存狀態 ↗ · UCSC 資料說明 ↗ · EPD team, SIB Swiss Institute of Bioinformatics; UCSC Genome Browser · CC BY 4.0
查看已取得的調控／motif 註解
ENSR19_B46PQ · promoter · 10960442–10961331 · regulatory
ENSR19_C34CX · enhancer · 10961332–10962506 · regulatory
ENSR19_B46Q7 · enhancer · 10963313–10964171 · regulatory
ENSR19_54KM6F · CTCF_binding_site · 10965103–10965124 · regulatory
ENSR19_8BP2P · enhancer · 10965284–10965530 · regulatory
· motif · 10960005–10960020 · motif
· motif · 10960079–10960094 · motif
· motif · 10960084–10960096 · motif
· motif · 10960087–10960094 · motif
· motif · 10960087–10960102 · motif
· motif · 10960490–10960503 · motif
· motif · 10960666–10960683 · motif
· motif · 10960708–10960719 · motif
· motif · 10960708–10960719 · motif
· motif · 10960751–10960762 · motif
· motif · 10960757–10960768 · motif
· motif · 10960757–10960768 · motif
· motif · 10960804–10960815 · motif
· motif · 10960854–10960865 · motif
· motif · 10960854–10960865 · motif
· motif · 10960962–10960973 · motif
· motif · 10960971–10960984 · motif
· motif · 10961003–10961016 · motif
· motif · 10961130–10961143 · motif
· motif · 10961204–10961217 · motif
· motif · 10961275–10961288 · motif
· motif · 10961302–10961314 · motif
· motif · 10961304–10961311 · motif
· motif · 10962791–10962813 · motif
· motif · 10962791–10962813 · motif
· motif · 10963503–10963525 · motif
· motif · 10963503–10963525 · motif
· motif · 10963526–10963543 · motif
· motif · 10963581–10963593 · motif
· motif · 10964068–10964081 · motif
· motif · 10964068–10964081 · motif
· motif · 10964529–10964544 · motif
· motif · 10964534–10964546 · motif
· motif · 10964537–10964544 · motif
· motif · 10964562–10964575 · motif
· motif · 10965105–10965121 · motif
· motif · 10965175–10965197 · motif
· motif · 10965175–10965197 · motif
蛋白質結構域與序列
參考蛋白質長度：1647 aa
SMARCA4 蛋白質長 1647 個胺基酸，屬於 SNF2/RAD54 helicase family，含 QLQ、HSA、Helicase ATP-binding、Helicase C-terminal 與 Bromo 結構域。另有一段區域被註記為足以結合 lncRNA Evf2，並有兩段足以與 DLX1 互作的區域；N 端區域則為與 SS18L1/CREST 互作所需。
蛋白質三維結構
細胞內定位
SMARCA4 位於細胞核，也會出現在 DNA 損傷位點。 依相似性推定，它與長鏈非編碼 RNA Evf2 共定位於核內 RNA 雲狀區域。
深綠色圓點：來源記載的蛋白質定位；數量不表示含量。
動物細胞結構示意；器官大小與數量不按比例。點選細胞構造可查看定位註解。
交互作用與訊號網絡
拖曳節點後放開可帶動位置變化；點選夥伴查看證據。位置與連線長度不代表結合強度，圖中未推定夥伴彼此之間的關係。
更多交互作用夥伴 · 已取得 18 個夥伴
- ARID1AO14497 · UniProt INTERACTION · 28 experiments
- ARID1BQ8NFD5 · UniProt INTERACTION · 5 experiments
- ARID2Q68CP9 · UniProt INTERACTION · 10 experiments
- CCND1P24385 · UniProt INTERACTION · 5 experiments
- E2F6O75461 · UniProt INTERACTION · 5 experiments
- H2AXP16104 · UniProt INTERACTION · 9 experiments
- JAK3P52333 · UniProt INTERACTION · 5 experiments
- PBRM1Q86U86 · UniProt INTERACTION · 7 experiments
- PPARGP37231 · UniProt INTERACTION · 5 experiments
- RBPJQ06330 · UniProt INTERACTION · 2 experiments
- RESTQ13127 · UniProt INTERACTION · 2 experiments
- SMARCB1Q12824 · UniProt INTERACTION · 43 experiments
- SMARCC1Q92922 · UniProt INTERACTION · 29 experiments
- SMARCD1Q96GM5 · UniProt INTERACTION · 15 experiments
- SMARCE1Q969G3-2 · UniProt INTERACTION · 2 experiments
- SYT-SSX1A4PIV7 · UniProt INTERACTION · 14 experiments
- TERTO14746 · UniProt INTERACTION · 8 experiments
- Nr3c1P06536 · UniProt INTERACTION · 3 experiments
SMARCA4 是 SWI/SNF-A（BAF）、SWI/SNF-B（PBAF）及 GBAF 等染色質重塑複合體的組成成員；不同複合體可有不同次單元組合。它也屬於 npBAF、nBAF 與 CREST-BRG1 complexes。資料另列出與 ZEB1、DLX1、ACTL6A、KDM6A、KDM6B、TERT 等蛋白質的互作；其中 TERT 互作經由 Bromo 結構域，並與 Wnt-mediated signaling 調節相關。
疾病與遺傳關聯
影響 SMARCA4 的基因變異與三種疾病相關：Rhabdoid tumor predisposition syndrome 2 可使患者易罹腎臟或腎外 rhabdoid tumors，以及多種中樞神經系統腫瘤；Coffin-Siris syndrome 4 是表現與遺傳方式具變異性的先天多重畸形症候群；Otosclerosis 12 為常染色體顯性且外顯率不完全的耳硬化症。這些疾病條目將其描述為由影響該基因的變異所致。
Contextual Functional Evidence Matrix
矩陣以「功能主張」為列，以細胞情境、干預條件、量測結果與證據來源為欄，方便比較同一功能在不同條件下的支持情形。只有含情境與實驗資訊的紀錄會列入矩陣；一般功能註解另列於下方。
功能註解總覽 · 7 筆
| 功能面向 | 功能敘述 | 證據類型 | 可查核來源 |
|---|---|---|---|
| 功能 | SMARCA4 是 ATPase，藉 ATP 依賴的染色質重塑改變核小體內 DNA-histone 接觸，調控特定基因的轉錄活化或抑制。在神經元中，CREST-BRG1 參與鈣離子依賴的抑制複合體釋出與活化因子招募；神經發育時 npBAF 轉換為 nBAF，參與神經幹細胞增殖及神經元樹突生長相關基因調控。另與 ZEB1 調節 E-cadherin 轉錄及上皮－間質轉換有關，也涉及 DLX5/DLX6 間增強子、RNA 結合及棕色脂肪產熱基因調節；部分內容為依相似性推定。 | 含實驗來源 | 證據與來源ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and recruitment of CREBBP (By similarity). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development, a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancers located in the intergenic region between DLX5 and DLX6 and this binding is stabilized by the long non-coding RNA (lncRNA) Evf2 (By similarity). Binds to RNA in a promiscuous manner (By similarity). In brown adipose tissue, involved in the regulation of thermogenic genes expression (By similarity) PMID 15075294 ↗ · PMID 19571879 ↗ · PMID 20418909 ↗ · PMID 29374058 ↗ · PMID 30339381 ↗ · PMID 32459350 ↗ · PMID 22952240 ↗ · PMID 26601204 ↗ |
| 分子活性 | ATP + H2O = ADP + phosphate + H(+) | 含實驗來源 | |
| 交互作用 | SMARCA4 是 SWI/SNF-A（BAF）、SWI/SNF-B（PBAF）與相關染色質重塑複合體的成員，並可出現在 npBAF、nBAF、GBAF、BAF53 及 CREST-BRG1 complexes。各複合體的組成可因組織與發育情境不同而變化。資料另記載其與 PHF10、MYOG、IKFZ1、ZEB1、TERT、KDM6A、KDM6B、HNRNPU、DLX1、DPF2、DPF3a、LETMD1、BRD3 等蛋白質互作；部分關係為依相似性推定，並列有條件性或可能互作。 | 含實驗來源 | 證據與來源Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible developmental- and tissue-specific combinations. Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A. Component of the BAF53 complex, at least composed of BAF53A, RUVBL1, SMARCA4/BRG1/BAF190A, and TRRAP, which preferentially acetylates histone H4 (and H2A) within nucleosomes. Component of the CREST-BRG1 complex, at least composed of SMARCA4/BRG1/BAF190A, SS18L1/CREST, HDAC1, RB1 and SP1 (By similarity). Interacts with PHF10/BAF45A (By similarity). Interacts with MYOG (By similarity). Interacts directly with IKFZ1; the interaction associates IKFZ1 with the BAF complex. Interacts with ZEB1 (via N-terminus). Interacts with NR3C1, PGR, SMARD1, TOPBP1 and ZMIM2/ZIMP7. Interacts with (via the bromodomain) with TERT; the interaction regulates Wnt-mediated signaling. Interacts with TBX21 in a KDM6B-dependent manner (By similarity). Interacts with KDM6A and KDM6B (By similarity). Interacts with HNRNPU; this interaction occurs in embryonic stem cells and stimulates global Pol II-mediated transcription (By similarity). Interacts with ACTL6A. Interacts with DLX1 (By similarity). Interacts with DPF2. Interacts with DPF3a (isoform 2 of DPF3/BAF45C) and with HDGFL2 in a DPF3a-dependent manner. May interact with ADNP2. Interacts with LETMD1 (via C-terminal); the interaction regulates transcriptional expression of thermogenic genes in brown adipose tissue (By similarity). Interacts (via KIKL motif) with BRD3 (via NET domain) PMID 10204490 ↗ · PMID 11839798 ↗ · PMID 12917342 ↗ · PMID 15075294 ↗ · PMID 16051670 ↗ · PMID 17274598 ↗ · PMID 17582821 ↗ · PMID 18765789 ↗ · PMID 19571879 ↗ · PMID 20418909 ↗ · PMID 20460684 ↗ · PMID 28649782 ↗ · PMID 29374058 ↗ · PMID 29567837 ↗ · PMID 32459350 ↗ · PMID 9590696 ↗ · PMID 22952240 ↗ · PMID 26601204 ↗ |
| 細胞定位 | SMARCA4 位於細胞核，並會定位於 DNA 損傷位點。此外，依相似性推定，它與長鏈非編碼 RNA Evf2 共定位於核內 RNA 雲狀區域。 | 含實驗來源 | 證據與來源Nucleus; Colocalizes with long non-coding RNA Evf2 in nuclear RNA clouds (By similarity). Localizes to sites of DNA damage PMID 20418909 ↗ · PMID 25593309 ↗ |
| 疾病關聯 | Rhabdoid tumor predisposition syndrome 2 是一種家族性癌症症候群，使患者易罹腎臟或腎外惡性 rhabdoid tumors，以及脈絡叢癌、髓母細胞瘤和中樞神經原始神經外胚層腫瘤等中樞神經系統腫瘤。Rhabdoid tumors 在幼兒期屬侵襲性與致死性皆高的惡性腫瘤；此疾病由影響 SMARCA4 的變異所致。 | 含實驗來源 | 證據與來源Rhabdoid tumor predisposition syndrome 2 RTPS2 A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. The disease is caused by variants affecting the gene represented in this entry MIM: 613325 PMID 20137775 ↗ |
| 疾病關聯 | Coffin-Siris syndrome 4 是 Coffin-Siris syndrome 的一型，屬先天多重畸形症候群，表現型與遺傳方式具有廣泛變異。主要特徵包括智能障礙、粗獷臉部特徵、多毛，以及第五指甲或指骨發育不全或缺失；亦常見多個器官系統畸形、吸吮或餵食困難、生長不良、眼科異常、聽力受損及脊椎異常。曾報告常染色體顯性與隱性遺傳；此疾病由影響 SMARCA4 的變異所致。 | 含實驗來源 | 證據與來源Coffin-Siris syndrome 4 CSS4 A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. The disease is caused by variants affecting the gene represented in this entry MIM: 614609 PMID 22426308 ↗ |
| 疾病關聯 | Otosclerosis 12 是耳硬化症的一型，特徵為迷路囊形成海綿狀骨，尤其在鐙骨底板前方及後方，可導致傳導性聽力受損；也可能發生耳蝸耳硬化，造成感音神經性聽力損失。此型為常染色體顯性遺傳且外顯率不完全，疾病與影響 SMARCA4 的基因變異相關。 | 含實驗來源 | 證據與來源Otosclerosis 12 OTSC12 A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC12 is an autosomal dominant form with incomplete penetrance. The disease is caused by variants affecting the gene represented in this entry MIM: 620792 PMID 37399313 ↗ |
核酸與蛋白質序列
GGGCGCGCGCGCGAGGCTTCCCCTCGTTTGGCGGCGGCGG40CGGCTTCTTTGTTTCGTGAAGAGAAGCGAGACGCCCATTC80TGCCCCCGGCCCCGCGCGGAGGGGCGGGGGAGGCGCCGGG120AAGTCGACGGCGCCGGCGGCTCCTGCAGGAGGCCACTGTC160TGCAGCTCCCGTGAAGATGTCCACTCCAGACCCACCCCTG200GGCGGAACTCCTCGGCCAGGTCCTTCCCCGGGCCCTGGCC240CTTCCCCTGGAGCCATGCTGGGCCCTAGCCCGGGTCCCTC280GCCGGGCTCCGCCCACAGCATGATGGGGCCCAGCCCAGGG320CCGCCCTCAGCAGGACACCCCATCCCCACCCAGGGGCCTG360GAGGGTACCCTCAGGACAACATGCACCAGATGCACAAGCC400CATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCG440CGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGG480GCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCA520GCACTCCCAAGGTTACCCCTCGCCCCTGGGTGGCTCTGAG560CATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGG600GGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGA640TGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGC680CCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAG720CTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCC760CCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGG800CCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTC840CACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGG880CCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAAT920TACAGCAGGCCTCATGGTATGGGAGGGCCCAACATGCCTC960cDNA 使用 DNA 字母 T；mRNA 模式改以 U 顯示。轉錄本保留已註解的非編碼區，未另外加入 poly(A) 尾；非編碼 RNA 的參考轉錄本也可能仍需後續加工。數字為所選序列的 1-based 位置。長序列以黃色捲軸瀏覽，可複製或下載完整轉錄本與蛋白質；基因組 DNA 隨捲動取得所需範圍。