1. Gene
  2. ISCA2 - iron-sulfur cluster assembly 2 Gene

ISCA2 - iron-sulfur cluster assembly 2 Gene

中文名称:铁硫簇组装 2

种属: Homo sapiens

同用名: ISA2; HBLD1; MMDS4; c14_5557

基因 ID: 122961 | 基因类型: protein coding

关于 ISCA2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,493,765-74,497,106 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 13.2), thyroid (RPKM 12.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种在线粒体中发现的 A 型铁硫簇 (ISC) 蛋白质。编码的蛋白质似乎参与线粒体铁硫蛋白的成熟。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2012 年 12 月]

The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

ISCA2 基因产物(2)

mRNA Protein Name
NM_001272007.2 NP_001258936.1 iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor
NM_194279.4 NP_919255.2 iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25347204 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25347204 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial [4Fe-4S] assembly complex IDA
IDA: 通过直接分析推断
25347204 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

ISCA2 蛋白结构

Fe-S_biosyn

Fe-S_biosyn: Iron-sulphur cluster biosynthesis (49 - 147)

  • 0
  • 100
  • 154 a.a.
蛋白主名 其他名称

iron-sulfur cluster assembly 2 homolog, mitochondrial

HESB-like domain-containing protein 1

ISCA2 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
ISCA2 Q86U28 ISCA1 Homo sapiens Q9BUE6
Anti Tag CoIP
33961781
种属内
ISCA2 Q86U28 RNF41 Homo sapiens Q9H4P4
Anti Tag CoIP
33961781
种属内
ISCA2 Q86U28 ISCA2 Homo sapiens Q86U28
NMR
25347204
种属内
ISCA2 Q86U28 ISCA1 Homo sapiens Q9BUE6
NMR
25347204
种属内
ISCA2 Q86U28 RNF41 Homo sapiens Q9H4P4
Validated Y2H
25416956
种属内
ISCA2 Q86U28 RNF41 Homo sapiens Q9H4P4
Validated Y2H
32296183
种属内
ISCA2 Q86U28 IBA57 Homo sapiens Q5T440
Anti Tag CoIP
33961781
种属内
ISCA2 Q86U28 IBA57 Homo sapiens Q5T440
SAXS
31831856
种属内
ISCA2 Q86U28 RNF41 Homo sapiens Q9H4P4
Y2H Prey Pooling
25416956
种属内
ISCA2 Q86U28 IBA57 Homo sapiens Q5T440
GMS
31831856
种属内
ISCA2 Q86U28 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
种属内
ISCA2 Q86U28 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
种属内
ISCA2 Q86U28 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 DMWD Homo sapiens G5E9A7
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 DMWD Homo sapiens G5E9A7
Validated Y2H
32814053
种属内
ISCA2 Q86U28 DMWD Homo sapiens G5E9A7
Y2H Array
32814053
种属内
ISCA2 Q86U28 GUCD1 Homo sapiens Q96NT3-2
Validated Y2H
32296183
种属内
ISCA2 Q86U28 FAM124B Homo sapiens Q9H5Z6-2
Validated Y2H
32296183
种属内
ISCA2 Q86U28 CHAT Homo sapiens P28329-3
Validated Y2H
32814053
种属内
ISCA2 Q86U28 CHAT Homo sapiens P28329-3
Y2H Array
32814053
种属内
ISCA2 Q86U28 CHAT Homo sapiens P28329-3
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
种属内
ISCA2 Q86U28 FGFR3 Homo sapiens P22607
Y2H Array
32814053
种属内
ISCA2 Q86U28 GSN Homo sapiens P06396
Validated Y2H
32814053
种属内
ISCA2 Q86U28 GSN Homo sapiens P06396
Y2H Array
32814053
种属内
ISCA2 Q86U28 GSN Homo sapiens P06396
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
种属内
ISCA2 Q86U28 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
种属内
ISCA2 Q86U28 SPRED1 Homo sapiens Q7Z699
Y2H Array
32814053
种属内
ISCA2 Q86U28 SPRED1 Homo sapiens Q7Z699
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 SPRED1 Homo sapiens Q7Z699
Validated Y2H
32814053
种属内
ISCA2 Q86U28 TTR Homo sapiens P02766
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 TTR Homo sapiens P02766
Validated Y2H
32814053
种属内
ISCA2 Q86U28 TTR Homo sapiens P02766
Y2H Array
32814053
种属内
ISCA2 Q86U28 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
ISCA2 Q86U28 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
ISCA2 Q86U28 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
ISCA2 Q86U28 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
32296183
种属内
ISCA2 Q86U28 GRN Homo sapiens P28799
Validated Y2H
32814053
种属内
ISCA2 Q86U28 GRN Homo sapiens P28799
Y2H Array
32814053
种属内
ISCA2 Q86U28 GRN Homo sapiens P28799
Y2H Pooling
32814053
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
Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4

Multiple Mitochondrial Dysfunctions Syndrome Type 4

Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunction Syndrome

Mmds

Multiple Mitochondrial Dysfunction Syndrome

Mitochondrial Dysfunctions, Multiple, Syndrome

Multiple Mitochondrial Dysfunctions Syndrome 1

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy

Quadriplegic Infantile Cerebral Palsy

Tetraplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Quadriplegic

Quadriplegic Cerebral Palsy

Spastic Quadriplegia Cerebral Palsy

Spastic Tetraplegia Cerebral Palsy

Cerebral Palsy, Quadriplegic, Infantile

Cerebral Palsy With Spastic Tetraplegia

Congenital Spastic Quadriplegia

Spastic Tetraplegic Cerebral Palsy

Congenital Quadriplegia Nos

Tetraplegic Cerebral Palsy

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3

Iba57 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 3

Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2

MMDS2

Bola3 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 2

Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1

Mmds

Nfu1 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 1

Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

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
Canis familiaris ISCA2 VGNC VGNC:42104
Felis catus ISCA2 VGNC VGNC:104477
Macaca mulatta ISCA2 VGNC VGNC:108306
Mus musculus ISCA2 MGD MGI:1921566
Bos taurus ISCA2 VGNC VGNC:30291
Rattus norvegicus ISCA2 RGD RGD:1563216