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IGHMBP2

GENERAL INFORMATION

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

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable) and pancreatic cancer (favourable).
Renal cancer p<0.001
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 IGHMBP2 (HGNC Symbol)

Synonyms

 CATF1, CMT2S, 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 83.38)

Entrez gene

 3508

UniProt

 P38935 (UniProt - Evidence at protein level)

neXtProt

 NX_P38935

Antibodypedia

 IGHMBP2 antibodies

PROTEIN BROWSER
IGHMBP2-001
IGHMBP2-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
IGHMBP2-001
ENSP00000255078
ENST00000255078
P38935 [Direct mapping]
DNA-binding protein SMUBP-2
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003678 [DNA helicase activity]
GO:0003697 [single-stranded DNA binding]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006310 [DNA recombination]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006412 [translation]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008134 [transcription factor binding]
GO:0008186 [RNA-dependent ATPase activity]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0021522 [spinal cord motor neuron differentiation]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0030529 [ribonucleoprotein complex]
GO:0032508 [DNA duplex unwinding]
GO:0032575 [ATP-dependent 5'-3' RNA helicase activity]
GO:0032797 [SMN complex]
GO:0043022 [ribosome binding]
GO:0043025 [neuronal cell body]
GO:0043141 [ATP-dependent 5'-3' DNA helicase activity]
GO:0051260 [protein homooligomerization]
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 993 aa
109.1 kDa 		No 0
IGHMBP2-007
ENSP00000440465
ENST00000539224
F5GX64 [Direct mapping]
DNA-binding protein SMUBP-2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 192 aa
21.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.