2. Gene
  3. CISD2 - CDGSH iron sulfur domain 2 Gene

CISD2 - CDGSH iron sulfur domain 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 493856 | Gene type: protein coding

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

Related Diseases

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-155538 Cisd2 agonist 1 99.22% Unkown
HY-155539 Cisd2 agonist 2 Activator 98.29% Unkown
HY-RS02724 CISD2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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