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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

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Antibodies

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IGHMBP2
  • TISSUE

  • CELL

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TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY

Reliability score

Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
N/A
Cerebral cortex
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Thyroid gland
N/A
Parathyroid gland
N/A
Adrenal gland
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Bone marrow
N/A
Lymph node
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Heart muscle
N/A
Skeletal muscle
N/A
Smooth muscle
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
Gallbladder
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Salivary gland
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Small intestine
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
Prostate
N/A
Seminal vesicle
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
Endometrium
N/A
Fallopian tube
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Adipose tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW

Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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
Show all
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]
Show all
993 aa
109.1 kDa
No 0
IGHMBP2-007
ENSP00000440465
ENST00000539224
F5GX64 [Direct mapping]
DNA-binding protein SMUBP-2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
192 aa
21.7 kDa
No 0

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The Human Protein Atlas project is funded
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