IGHMBP2

GENERAL INFORMATION

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Gene name

IGHMBP2

Gene description

Immunoglobulin mu binding protein 2

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

IGHMBP2 (HGNC Symbol)

Synonyms

CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7

Description

Immunoglobulin mu binding protein 2 (HGNC Symbol)

Entrez gene summary

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

Chromosome

11

Cytoband

q13.3

Chromosome location (bp)

68903842 - 68940602

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000132740 (version 78.38)

Entrez gene

3508

UniProt

P38935 (UniProt - Evidence at protein level)

neXtProt

NX_P38935

Antibodypedia

IGHMBP2 antibodies


PROTEIN BROWSER

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ENST00000255078
 
ENST00000539224
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

IGHMBP2-001 ENSP00000255078
ENST00000255078
P38935
Show all »
Show » Show » 993 109.1 No 0
IGHMBP2-007 ENSP00000440465
ENST00000539224
F5GX64
Show all »
Show » 192 21.7 No 0