CISD2 - CDGSH iron sulfur domain 2 Gene

Also Known as ERIS; WFS2; ZCD2; NAF-1; Miner1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 493856

About CISD2

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:102,868,992-102,892,807 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), kidney (RPKM 5.5) and 25 other tissues.

Summary

The protein encoded by this gene is a Zinc Finger Protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]

CISD2 Products (1)

mRNA Protein Name
NM_001008388.5 NP_001008389.1 CDGSH iron-sulfur domain-containing protein 2

CISD2 Protein Structure

MitoNEET_N

MitoNEET_N: Iron-containing outer mitochondrial membrane protein N-terminus (1 - 66)

zf-CDGSH

zf-CDGSH: Iron-binding zinc finger CDGSH type (77 - 115)

  • 0
  • 100
  • 135 a.a.
Protein Preferred Names Protein Names

CDGSH iron-sulfur domain-containing protein 2

  • endoplasmic reticulum intermembrane small protein

CISD2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
CISD2 Q8N5K1 SLC35B4 Homo sapiens Q969S0 32296183
Intra
CISD2 Q8N5K1 PNKP Homo sapiens Q96T60 32296183
Intra
CISD2 Q8N5K1 CFHR5 Homo sapiens Q9BXR6 32296183
Intra
CISD2 Q8N5K1 AIG1 Homo sapiens Q9NVV5-2 32296183
Intra
CISD2 Q8N5K1 C4orf3 Homo sapiens Q8WVX3-2 32296183
Intra
CISD2 Q8N5K1 NRAC Homo sapiens Q8N912 32296183
Intra
CISD2 Q8N5K1 PGAP2 Homo sapiens Q9UHJ9-5 32296183
Intra
CISD2 Q8N5K1 FAM241B Homo sapiens Q96D05-2 32296183
Intra
CISD2 Q8N5K1 MAN2B2 Homo sapiens Q9Y2E5 32296183
Intra
CISD2 Q8N5K1 AQP10 Homo sapiens Q96PS8 32296183
Intra
CISD2 Q8N5K1 AQP10 Homo sapiens Q96PS8 32296183
Intra
CISD2 Q8N5K1 TMEM243 Homo sapiens Q9BU79 32296183
Intra
CISD2 Q8N5K1 SLC13A3 Homo sapiens Q8WWT9 32296183
Intra
CISD2 Q8N5K1 PLPPR2 Homo sapiens Q96GM1 32296183
Intra
CISD2 Q8N5K1 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
CISD2 Q8N5K1 POMGNT1 Homo sapiens Q8WZA1 32296183
Intra
CISD2 Q8N5K1 NAPB Homo sapiens Q9H115 32296183
Intra
CISD2 Q8N5K1 APOL2 Homo sapiens Q9BQE5 32296183
Intra
CISD2 Q8N5K1 HHATL Homo sapiens Q9HCP6 32296183
Intra
CISD2 Q8N5K1 CLN6 Homo sapiens Q9NWW5 32296183
Intra
CISD2 Q8N5K1 BCL2L2 Homo sapiens Q92843 32296183
Intra
CISD2 Q8N5K1 TMEM43 Homo sapiens Q9BTV4 32296183
Intra
CISD2 Q8N5K1 SERP2 Homo sapiens Q8N6R1 32296183
Intra
CISD2 Q8N5K1 YIPF6 Homo sapiens Q96EC8 32296183
Intra
CISD2 Q8N5K1 BCL2 Homo sapiens P10415 20010695
Intra
CISD2 Q8N5K1 BCL2 Homo sapiens P10415 20010695
Intra
CISD2 Q8N5K1 RUSF1 Homo sapiens Q96GQ5 32296183
Intra
CISD2 Q8N5K1 NRG4 Homo sapiens Q8WWG1 32296183
Intra
CISD2 Q8N5K1 BTN2A2 Homo sapiens Q8WVV5 32296183
Intra
CISD2 Q8N5K1 SEC22A Homo sapiens Q96IW7 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Wolfram Syndrome 2
  • WFS2

Wolfram Syndrome
  • Didmoad Syndrome

  • Didmoad

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Wfs

  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

  • Didmoadud

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Wolfram Syndrome 1
  • WFS1

  • Didmoad

  • Wfs

  • Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome

  • Wolfram Syndrome

Diabetes Insipidus
Noonan Syndrome 13
  • NS13

Primary Optic Atrophy
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

Waardenburg Syndrome, Type 1
  • Waardenburg Syndrome Type 1

  • WS1

  • Waardenburg Syndrome Type I

  • Waardenburg Syndrome With Dystopia Canthorum

  • Waardenburg'S Syndrome Type 1

  • Waardenburg Syndrome 1

  • Waardenburg Syndrome, Type I

  • Waardenburg Syndrome

Neurogenic Bladder
  • Neurogenic Dysfunction Of The Urinary Bladder

  • Neurogenic Urinary Bladder Disorder

  • Neuropathic Bladder

  • Bladder Neurogenic

  • Urinary Bladder, Neurogenic

  • Neurogenic Urinary Bladder

Waardenburg'S Syndrome
  • Waardenburg Syndrome

  • Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

  • Van Der Hoeve Halbertsona Waardenburg Syndrome

  • Waardenburg Shah Syndrome

  • Waardenburg, Types I And/Or Ii

  • Mende Syndrome

  • Waardenburgs Syndrome

  • Waardenburg Syndrome, Type 4a

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Cranial Nerve Disease
  • Cranial Nerve Disorder

  • Disorder Of Cranial Nerve

  • Cranial Nerve Diseases

Diseases Alias
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

Orthologs Information

生物種 Symbol 由来 ID
Bos taurus CISD2 VGNC VGNC:27372
Felis catus CISD2 VGNC VGNC:78470
Macaca mulatta CISD2 VGNC VGNC:106563
Rattus norvegicus CISD2 RGD RGD:1566242
Mus musculus CISD2 MGD MGI:1914256
Canis familiaris CISD2 VGNC VGNC:39279
Others CISD2 NCBI