2. Gene
  3. CHRFAM7A - CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion Gene

CHRFAM7A - CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：CHRNA7 (外显子 5-10) 和 FAM7A (外显子 AE) 融合

种属: Homo sapiens

同用名: D-10; CHRNA7; NACHRA7; CHRNA7-DR1

基因 ID: 89832 | 基因类型: protein coding

关于 CHRFAM7A

Cytogenetic location: 15q13.2 Genomic coordinates (GRCh38): 15:30,360,566-30,393,900 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 230 orthologues and 45 paralogues. Broad expression in adrenal (RPKM 4.3), small intestine (RPKM 4.0) and 19 other tissues.

功能概要

烟碱型乙酰胆碱受体 (nAChRs) 是配体门控离子通道超家族的成员，可介导突触处的快速信号传输。家族成员 CHRNA7 位于 15 号染色体上与多种神经精神疾病相关的区域，它被部分复制并与来自序列相似性 7 (FAM7A) 家族的新基因形成杂交体。已观察到选择性剪接，并且存在两种变体，用于该杂种基因。由每个变体的最大开放阅读框预测的 N 末端截短产物将缺少大部分神经递质门控离子通道配体结合域，但保留形成离子通道的跨膜区域。虽然目前的证据支持这种混合基因的转录，但尚未证实烟碱乙酰胆碱受体样蛋白编码开放阅读框的翻译。[RefSeq 提供，2008 年 7 月]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]

CHRFAM7A 基因产物(2)

mRNA Protein Name
NM_139320.2 NP_647536.1 CHRNA7-FAM7A fusion protein isoform 1
NM_148911.1 NP_683709.1 CHRNA7-FAM7A fusion protein isoform 2

CHRFAM7A 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (28 - 140)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (147 - 396)

  • 0
  • 100
  • 200
  • 300
  • 412 a.a.
蛋白主名 其他名称

CHRNA7-FAM7A fusion protein

CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion

CHRFAM7A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CHRFAM7A Q494W8 CHRNA7 Homo sapiens P36544
Anti Bait CoIP
28750690
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion Syndrome

15q13.3 Microdeletion

Microdeletion 15q13.3 Syndrome

Del(15)(Q13.3)

Monosomy 15q13.3
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02659 CHRFAM7A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CHRFAM7A MGD MGI:99779
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