1. Gene
  2. STARD7 - StAR related lipid transfer domain containing 7 Gene

STARD7 - StAR related lipid transfer domain containing 7 Gene

中文名称:含 StAR 相关脂质转移结构域 7

种属: Homo sapiens

同用名: GTT1; FAME2

基因 ID: 56910 | 基因类型: protein coding

关于 STARD7

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,184,859-96,208,827 (from NCBI)

This gene has 6 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 46.9), brain (RPKM 44.7) and 25 other tissues.

功能概要

预测可实现脂质结合活性。预计在几个过程的上游或内部起作用,包括建立皮肤屏障;粘膜纤毛清除;和髓样树突状细胞活化。预测位于细胞质和细胞外区域。涉及家族性成人肌阵挛性癫痫 2。[由基因组资源联盟提供,2022 年 4 月]

Predicted to enable lipid binding activity. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Predicted to be located in cytoplasm and extracellular region. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Apr 2022]

STARD7 基因产物(2)

mRNA Protein Name
NM_001385622.1 NP_001372551.1 stAR-related lipid transfer protein 7, mitochondrial isoform 2
NM_020151.4 NP_064536.2 stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
27499296 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

STARD7 蛋白结构

START

START: START domain (137 - 325)

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

stAR-related lipid transfer protein 7, mitochondrial

START domain containing 7

关联疾病

疾病名称 别名
Epilepsy, Familial Adult Myoclonic, 2

FAME2

Benign Adult Familial Myoclonic Epilepsy 2

Bafme2

Fcmte2

Adcme

Cortical Myoclonic Tremor With Epilepsy, Familial, 2

Cortical Myoclonus And Epilepsy, Autosomal Dominant

Familial Adult Myoclonic Epilepsy 2

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Autosomal Dominant Cortical Myoclonus And Epilepsy

Familial Cortical Myoclonic Tremor And Epilepsy 2

Epilepsy, Myoclonic, Familial Adult, Type 2

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Epilepsy, Familial Adult Myoclonic, 1

FAME1

Benign Adult Familial Myoclonic Epilepsy 1

Bafme1

Fcmte1

Cortical Myoclonic Tremor With Epilepsy, Familial, 1

Familial Adult Myoclonic Epilepsy 1

Familial Cortical Myoclonic Tremor And Epilepsy 1

Epilepsy, Myoclonic, Familial Adult, Type 1

Epilepsy, Familial Adult Myoclonic, 7

FAME7

Bafme7

Fcmte7

Benign Adult Familial Myoclonic Epilepsy 7

Cortical Myoclonic Tremor With Epilepsy, Familial, 7

Familial Adult Myoclonic Epilepsy 7

Familial Cortical Myoclonic Tremor And Epilepsy 7

Benign Adult Familial Myoclonic Epilepsy 27

Epilepsy, Myoclonic, Familial Adult, Type 7

Epilepsy, Familial Adult Myoclonic, 3

FAME3

Fcmte3

Cortical Myoclonic Tremor With Epilepsy, Familial, 3

Familial Adult Myoclonic Epilepsy 3

Familial Cortical Myoclonic Tremor And Epilepsy 3

Epilepsy, Myoclonic, Familial Adult, Type 3

Epilepsy, Familial Adult Myoclonic, 4

FAME4

Fcmte4

Cortical Myoclonic Tremor With Epilepsy, Familial, 4

Familial Adult Myoclonic Epilepsy 4

Epilepsy, Myoclonic, Familial Adult, 4

Familial Cortical Myoclonic Tremor And Epilepsy 4

Epilepsy, Myoclonic, Familial Adult, Type 4

Epilepsy, Familial Adult Myoclonic, 6

FAME6

Benign Adult Familial Myoclonic Epilepsy 6

Bafme6

Fcmte6

Cortical Myoclonic Tremor With Epilepsy, Familial, 6

Familial Adult Myoclonic Epilepsy 6

Familial Cortical Myoclonic Tremor And Epilepsy 6

Epilepsy, Myoclonic, Familial Adult, Type 6

Adolescence-Adult Electroclinical Syndrome
Branchiootorenal Syndrome 2

BOR2

Bor Syndrome 2

Branchiootorenal Dysplasia 2

Branchio-Oto-Renal Dysplasia 2

Branchio-Oto-Renal Syndrome Type 2

Branchiootorenal Syndrome, Type 2

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

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

直系同源

种属 基因名 来源 基因 ID
Felis catus STARD7 VGNC VGNC:65757
Canis familiaris STARD7 VGNC VGNC:46887
Rattus norvegicus STARD7 RGD RGD:1307613
Macaca mulatta STARD7 VGNC VGNC:77948
Mus musculus STARD7 MGD MGI:2139090
Bos taurus STARD7 VGNC VGNC:35368