IGHMBP2 (immunoglobulin mu DNA binding protein 2)

2003-12-01  

Identity

HGNC
IGHMBP2
LOCATION
11q13.3
LOCUSID
3508
ALIAS
CATF1,CMT2S,HCSA,HMN6,SMARD1,SMUBP2,ZFAND7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3508
MIM: 600502
HGNC: 5542
Ensembl: ENSG00000132740

Variants:

dbSNP: 3508
ClinVar: 3508
TCGA: ENSG00000132740
COSMIC: IGHMBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132740ENST00000255078P38935
ENSG00000132740ENST00000539224F5GX64
ENSG00000132740ENST00000544541F5H5K3
ENSG00000132740ENST00000545146H3BRR1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

References

Pubmed IDYearTitleCitations
191580982009IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).26
254397262014Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.19
221571362012The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).14
229651302012The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.13
191578742009Interfamilial phenotypic heterogeneity in SMARD1.10
188026762009Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.9
252489522014The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.9
169644852006Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.7
243884912014Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.7
125472032003Solution structure of the R3H domain from human Smubp-2.6

Citation

Dessen P

IGHMBP2 (immunoglobulin mu DNA binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40935/ighmbp2