SGSM3 (small G protein signaling modulator 3)

2014-04-01 Affiliation

Identity

HGNC

SGSM3

LOCATION

22q13.1

LOCUSID

27352

ALIAS

CIP85,MAP,RABGAP5,RUSC3,RUTBC3,RabGAP-5,rabGAPLP

FUSION GENES

Show Gene Fusions

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: 27352
MIM: 610440
HGNC: 25228
Ensembl: ENSG00000100359

Variants:

dbSNP: 27352
ClinVar: 27352
TCGA: ENSG00000100359
COSMIC: SGSM3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100359	ENST00000248929	Q96HU1
ENSG00000100359	ENST00000248929	B9A6J5
ENSG00000100359	ENST00000417424	H0Y7V2
ENSG00000100359	ENST00000427834	B0QY81
ENSG00000100359	ENST00000457767	B0QY80

Expression (GTEx)

100

150

200

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
37833060	2024	Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.	0
37833060	2024	Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.	0
29693742	2018	Evaluation of 4-bp insertion/deletion polymorphism within the 3'UTR of SGSM3 in bladder cancer using mismatch PCR-RFLP method: A preliminary report.	4
29693742	2018	Evaluation of 4-bp insertion/deletion polymorphism within the 3'UTR of SGSM3 in bladder cancer using mismatch PCR-RFLP method: A preliminary report.	4
27432265	2017	Genetic variants of ESR1 and SGSM3 are associated with the susceptibility of breast cancer in the Chinese population.	4
27432265	2017	Genetic variants of ESR1 and SGSM3 are associated with the susceptibility of breast cancer in the Chinese population.	4
23918301	2014	Association between an insertion/deletion polymorphism within 3'UTR of SGSM3 and risk of hepatocellular carcinoma.	11
23918301	2014	Association between an insertion/deletion polymorphism within 3'UTR of SGSM3 and risk of hepatocellular carcinoma.	11
23586710	2013	The connexin43-interacting protein, CIP85, mediates the internalization of connexin43 from the plasma membrane.	9
23586710	2013	The connexin43-interacting protein, CIP85, mediates the internalization of connexin43 from the plasma membrane.	9
17509819	2007	Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway.	27
17509819	2007	Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway.	27
15541357	2004	MAP, a protein interacting with a tumor suppressor, merlin, through the run domain.	1
15541357	2004	MAP, a protein interacting with a tumor suppressor, merlin, through the run domain.	1

Citation

Dessen P

SGSM3 (small G protein signaling modulator 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-04-01

Online version: http://atlasgeneticsoncology.org/gene/53858/welcome