FAM13A (family with sequence similarity 13 member A)

2016-10-01  

Identity

HGNC
LOCATION
4q22.1
LOCUSID
ALIAS
ARHGAP48,FAM13A1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
200108352010Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.251
201737482010Variants in FAM13A are associated with chronic obstructive pulmonary disease.180
201737482010Variants in FAM13A are associated with chronic obstructive pulmonary disease.180
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206569432010Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease.55
256090862015Regulation of nuclear-cytoplasmic shuttling and function of Family with sequence similarity 13, member A (Fam13a), by B56-containing PP2As and Akt.19
231690002012PLAU inferred from a correlation network is critical for suppressor function of regulatory T cells.18
265278702015Candidate genes for COPD: current evidence and research.17
251636862014Moving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases?15
276124102017Genome-wide association study on the FEV1/FVC ratio in never-smokers identifies HHIP and FAM13A.14

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/fam13a