TAF7L (TATA-box binding protein associated factor 7 like)

2013-08-01  

Identity

HGNC
TAF7L
LOCATION
Xq22.1
LOCUSID
54457
ALIAS
CT40,TAF2Q
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54457
MIM: 300314
HGNC: 11548
Ensembl: ENSG00000102387

Variants:

dbSNP: 54457
ClinVar: 54457
TCGA: ENSG00000102387
COSMIC: TAF7L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102387ENST00000324762Q5H9L4
ENSG00000102387ENST00000324762A0A024RCI3
ENSG00000102387ENST00000356784Q5H9L4
ENSG00000102387ENST00000372907Q5H9L4

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Basal transcription factorsKEGGhsa03022
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Transcription of the HIV genomeREACTOMER-HSA-167172
HIV Transcription InitiationREACTOMER-HSA-167161
RNA Polymerase II HIV Promoter EscapeREACTOMER-HSA-167162
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter OpeningREACTOMER-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter ClearanceREACTOMER-HSA-76042
RNA Polymerase II Transcription InitiationREACTOMER-HSA-75953
RNA Polymerase II Promoter EscapeREACTOMER-HSA-73776
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
355544942022Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.3
360681762022The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility.0
367145662022Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.4
355544942022Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.3
360681762022The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility.0
367145662022Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.4
293076032018An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.0
293076032018An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.0
250982772015Frameshift mutations of TAF7L gene, a core component for transcription by RNA polymerase II, in colorectal cancers.3
261072142015Cancer/Testis OIP5 and TAF7L Genes are Up-Regulated in Breast Cancer.10
250982772015Frameshift mutations of TAF7L gene, a core component for transcription by RNA polymerase II, in colorectal cancers.3
261072142015Cancer/Testis OIP5 and TAF7L Genes are Up-Regulated in Breast Cancer.10
232928642013Expression analysis of four testis-specific genes AURKC, OIP5, PIWIL2 and TAF7L in acute myeloid leukemia: a gender-dependent expression pattern.16
232928642013Expression analysis of four testis-specific genes AURKC, OIP5, PIWIL2 and TAF7L in acute myeloid leukemia: a gender-dependent expression pattern.16
177142182007Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure.19

Citation

Dessen P

TAF7L (TATA-box binding protein associated factor 7 like)

Atlas Genet Cytogenet Oncol Haematol. 2013-08-01

Online version: http://atlasgeneticsoncology.org/gene/53489/js/lib/hgnc