IBA57 (iron-sulfur cluster assembly factor IBA57)

2014-11-01  

Identity

HGNC
IBA57
LOCATION
1q42.13
LOCUSID
200205
ALIAS
C1orf69,MMDS3,SPG74
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 200205
MIM: 615316
HGNC: 27302
Ensembl: ENSG00000181873

Variants:

dbSNP: 200205
ClinVar: 200205
TCGA: ENSG00000181873
COSMIC: IBA57

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181873ENST00000366711Q5T440

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
196564902009Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.77
223232892012The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.56
234622912013Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.36
256097682015Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
277855682017Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.8
286717262018Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.3
302582072018Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.3

Citation

Dessen P

IBA57 (iron-sulfur cluster assembly factor IBA57)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64487/iba57