ABI3 (ABI family member 3)

ABI3 (ABI family member 3)

2003-10-01 Affiliation

Identity

HGNC

LOCATION

17q21.32

LOCUSID

ALIAS

NESH,SSH3BP3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51225
MIM: 606363
HGNC: 29859
Ensembl: ENSG00000108798

Variants:

dbSNP: 51225
ClinVar: 51225
TCGA: ENSG00000108798
COSMIC: ABI3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108798	ENST00000225941	Q9P2A4
ENSG00000108798	ENST00000419580	Q9P2A4
ENSG00000108798	ENST00000571035	I3L1X2
ENSG00000108798	ENST00000573347	I3L3W4

Expression (GTEx)

0

10

20

30

40

50

60

70

80

90

100

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35275543	2022	ABI3 Is a Novel Early Biomarker of Alzheimer's Disease.	4
36140776	2022	Identification and Quantitation of Novel ABI3 Isoforms Relative to Alzheimer's Disease Genetics and Neuropathology.	3
35275543	2022	ABI3 Is a Novel Early Biomarker of Alzheimer's Disease.	4
36140776	2022	Identification and Quantitation of Novel ABI3 Isoforms Relative to Alzheimer's Disease Genetics and Neuropathology.	3
32894242	2020	Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.	15
33092647	2020	Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy.	5
32894242	2020	Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.	15
33092647	2020	Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy.	5
30705288	2019	Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.	24
31127786	2019	Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients.	2
30705288	2019	Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.	24
31127786	2019	Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients.	2
30326945	2018	ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.	51
30326945	2018	ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.	51
28714976	2017	Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.	477

Citation

Dessen P

ABI3 (ABI family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/547/js/lib/img/js/template.js