FAM13A (family with sequence similarity 13 member A)

2016-10-01  

Identity

HGNC
FAM13A
LOCATION
4q22.1
LOCUSID
10144
ALIAS
ARHGAP48,FAM13A1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10144
MIM: 613299
HGNC: 19367
Ensembl: ENSG00000138640

Variants:

dbSNP: 10144
ClinVar: 10144
TCGA: ENSG00000138640
COSMIC: FAM13A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138640ENST00000264344O94988
ENSG00000138640ENST00000395002O94988
ENSG00000138640ENST00000503556O94988
ENSG00000138640ENST00000504836D6RD35
ENSG00000138640ENST00000506913D6RGE4
ENSG00000138640ENST00000507352D6RIY4
ENSG00000138640ENST00000508369O94988
ENSG00000138640ENST00000509094D6RFM4
ENSG00000138640ENST00000511976E9PGM7
ENSG00000138640ENST00000512339D6RCC1
ENSG00000138640ENST00000513837O94988
ENSG00000138640ENST00000515600Q6P521

Expression (GTEx)

0
5
10
15
20
25
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
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
367171882023Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis.4
371076722023The Influence of FAM13A and PPAR-γ2 Gene Polymorphisms on the Metabolic State of Postmenopausal Women.0
373668072023Single Nucleotide Polymorphisms of FAM13A Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.1
373917062023FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers.3
376058462023FAM13A regulates cellular senescence marker p21 and mitochondrial reactive oxygen species production in airway epithelial cells.1
377863202023Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta-analysis.1
367171882023Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis.4
371076722023The Influence of FAM13A and PPAR-γ2 Gene Polymorphisms on the Metabolic State of Postmenopausal Women.0
373668072023Single Nucleotide Polymorphisms of FAM13A Gene in Chronic Obstructive Pulmonary Disease-A Case Control Study in Vietnam.1
373917062023FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers.3
376058462023FAM13A regulates cellular senescence marker p21 and mitochondrial reactive oxygen species production in airway epithelial cells.1
377863202023Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta-analysis.1
348213702022miR‑30a‑5p induces the adipogenic differentiation of bone marrow mesenchymal stem cells by targeting FAM13A/Wnt/β‑catenin signaling in aplastic anemia.1
348213702022miR‑30a‑5p induces the adipogenic differentiation of bone marrow mesenchymal stem cells by targeting FAM13A/Wnt/β‑catenin signaling in aplastic anemia.1
330976732021Respiratory traits and coal workers' pneumoconiosis: Mendelian randomisation and association analysis.3

Citation

Dessen P

FAM13A (family with sequence similarity 13 member A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55980/gene-explorer/js/meetings/