Tissue expression of CBFB - Summary - The Human Protein Atlas

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CBFB

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	CBFB
Gene description	Core-binding factor, beta subunit
Protein class	Cancer-related genes Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	6
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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

Protein expression

Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY
Data reliability description	RNA-based expert annotation gave inconclusive results. Pending external verification.
Reliability score	Uncertain based on 1 antibody. HPA038852
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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

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

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	CBFB (HGNC Symbol)
Synonyms	PEBP2B
Description	Core-binding factor, beta subunit (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Chromosome	16
Cytoband	q22.1
Chromosome location (bp)	67029116 - 67101058
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000067955 (version 83.38)
Entrez gene	865
UniProt	Q13951 (UniProt - Evidence at protein level)
neXtProt	NX_Q13951
Antibodypedia	CBFB antibodies

PROTEIN BROWSER

CBFB-001	CBFB-002	CBFB-003	CBFB-006	CBFB-007	CBFB-009

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CBFB-001 ENSP00000290858 ENST00000290858	Q13951 [Direct mapping] Core-binding factor subunit beta A0A024R6X2 [Target identity:100%; Query identity:100%] Core-binding factor, beta subunit, isoform CRA_b Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000209 [protein polyubiquitination] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006366 [transcription from RNA polymerase II promoter] GO:0016020 [membrane] Show all	182 aa 21.5 kDa	No	0
CBFB-002 ENSP00000462932 ENST00000565389	J3KTD8 [Direct mapping] Core-binding factor subunit beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003713 [transcription coactivator activity] GO:0005634 [nucleus] GO:1903506 [regulation of nucleic acid-templated transcription] Show all	60 aa 6.9 kDa	No	0
CBFB-003 ENSP00000415151 ENST00000412916	Q13951 [Direct mapping] Core-binding factor subunit beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000209 [protein polyubiquitination] GO:0001503 [ossification] GO:0001649 [osteoblast differentiation] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006366 [transcription from RNA polymerase II promoter] GO:0016020 [membrane] GO:0030098 [lymphocyte differentiation] GO:0030099 [myeloid cell differentiation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048469 [cell maturation] GO:0060216 [definitive hemopoiesis] Show all	187 aa 22 kDa	No	0
CBFB-006 ENSP00000456637 ENST00000564034	H3BSC0 [Direct mapping] Core-binding factor subunit beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003713 [transcription coactivator activity] GO:0005634 [nucleus] GO:1903506 [regulation of nucleic acid-templated transcription] Show all	93 aa 11.1 kDa	No	0
CBFB-007 ENSP00000462273 ENST00000561924	J3KS23 [Direct mapping] Core-binding factor subunit beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003713 [transcription coactivator activity] GO:0005634 [nucleus] GO:1903506 [regulation of nucleic acid-templated transcription] Show all	82 aa 9.7 kDa	No	0
CBFB-009 ENSP00000462148 ENST00000563939	J3KRT0 [Direct mapping] Core-binding factor subunit beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003713 [transcription coactivator activity] GO:0005634 [nucleus] GO:1903506 [regulation of nucleic acid-templated transcription] Show all	61 aa 7.3 kDa	No	0

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The Human Protein Atlas

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