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Gene name

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Reliability

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Expression

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Cancer

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AFF3
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene namei

Gene name according to HGNC.

AFF3

Gene descriptioni

Gene description according to HGNC.

AF4/FMR2 family, member 3

Protein classi

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

Cancer-related genes
Predicted intracellular proteins

Predicted localizationi

Protein localization predicted from several bioinformatic algorithms.

Read more

Intracellular

Number of transcriptsi

Number of protein-coding transcribed from this gene as defined by Ensembl.

12
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue categoryi

RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.

Read more

HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enhanced (appendix, spleen, tonsil)

Protein evidencei

Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.

Evidence at protein level

Protein expressioni

A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.

"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.

Read more

Mainly nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
descriptioni

Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.

Antibody staining mainly not consistent with RNA expression data.

Reliability scorei

Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.

Read more

Approved based on 1 antibody.
HPA044512
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARYi

Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.

RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.

Read more
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
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
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

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEWi

Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.

For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEWi

RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.

HPA dataseti

HPA dataset
RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.

RNA tissue category HPA
HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataseti

GTEx dataset
RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.

RNA tissue category GTEx
GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataseti

FANTOM5 dataset
Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.

RNA tissue category FANTOM5
FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (appendix, spleen, tonsil)

GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Gene name

AFF3 (HGNC Symbol)

Synonyms

LAF4, MLLT2-like

Description

AF4/FMR2 family, member 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q11.2

Chromosome location (bp)

99545419 - 100142739

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000144218 (version 83.38)

Entrez gene

3899

UniProt

P51826 (UniProt - Evidence at protein level)

neXtProt

NX_P51826

Antibodypedia

AFF3 antibodies

PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.

«
AFF3-001
AFF3-002
AFF3-003
AFF3-005
AFF3-006
AFF3-007
AFF3-008
AFF3-009
AFF3-010
AFF3-014
AFF3-015
AFF3-201
»

PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AFF3-001
ENSP00000387207
ENST00000409236
P51826 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003690 [double-stranded DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0034612 [response to tumor necrosis factor]
GO:0035116 [embryonic hindlimb morphogenesis]
Show all
1226 aa
133.5 kDa
No 0
AFF3-002
ENSP00000386834
ENST00000409579
P51826 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003690 [double-stranded DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0034612 [response to tumor necrosis factor]
GO:0035116 [embryonic hindlimb morphogenesis]
Show all
1251 aa
136.4 kDa
No 0
AFF3-003
ENSP00000396582
ENST00000423966
C9JC67 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
155 aa
17.5 kDa
No 0
AFF3-005
ENSP00000395068
ENST00000416492
C9JMS1 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
99 aa
11.6 kDa
No 0
AFF3-006
ENSP00000411383
ENST00000424600
C9J847 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
114 aa
13.3 kDa
No 0
AFF3-007
ENSP00000399795
ENST00000441400
C9JZ66 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
129 aa
14.8 kDa
No 0
AFF3-008
ENSP00000393732
ENST00000440445
C9JUC4 [Direct mapping]
AF4/FMR2 family member 3
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
155 aa
17.5 kDa
No 0
AFF3-009
ENSP00000407448
ENST00000415384
C9JUY1 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
183 aa
19.9 kDa
No 0
AFF3-010
ENSP00000416131
ENST00000427118
C9JIB1 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
17 aa
2 kDa
No 0
AFF3-014
ENSP00000406484
ENST00000432037
C9J622 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
161 aa
18.2 kDa
No 0
AFF3-015
ENSP00000416685
ENST00000445815
H7C4C2 [Direct mapping]
AF4/FMR2 family member 3
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
185 aa
20.7 kDa
No 0
AFF3-201
ENSP00000317421
ENST00000317233
P51826 [Direct mapping]
AF4/FMR2 family member 3
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003690 [double-stranded DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0034612 [response to tumor necrosis factor]
GO:0035116 [embryonic hindlimb morphogenesis]
Show all
1226 aa
133.5 kDa
No 0

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The Human Protein Atlas project is funded
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