Tissue expression of DEF6 - Summary - The Human Protein Atlas

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DEF6

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TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	DEF6
Gene description	DEF6 guanine nucleotide exchange factor
Protein class	Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Tissue enhanced (spleen)
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in immune cells.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA038975 , HPA038976
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

N/A

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (spleen)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	DEF6 (HGNC Symbol)
Synonyms	IBP, SLAT, SWAP70L
Description	DEF6 guanine nucleotide exchange factor (HGNC Symbol)
Entrez gene summary	DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
Chromosome	6
Cytoband	p21.31
Chromosome location (bp)	35297852 - 35321771
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000023892 (version 83.38)
Entrez gene	50619
UniProt	Q9H4E7 (UniProt - Evidence at protein level)
neXtProt	NX_Q9H4E7
Antibodypedia	DEF6 antibodies

PROTEIN BROWSER

DEF6-001	DEF6-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DEF6-001 ENSP00000319831 ENST00000316637	Q9H4E7 [Direct mapping] Differentially expressed in FDCP 6 homolog Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] GO:0016020 [membrane] Show all	631 aa 73.9 kDa	No	0
DEF6-002 ENSP00000415357 ENST00000444278	H0Y7V7 [Direct mapping] Differentially-expressed in FDCP 6 homolog Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		129 aa 14.7 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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