Property Summary

NCBI Gene PubMed Count 10
PubMed Score 3.67
PubTator Score 4.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Down syndrome 548
Muscle Weakness 92
Disease Target Count P-value
psoriasis 6685 3.13851416399721E-44
acute quadriplegic myopathy 1157 2.33613137113949E-5
medulloblastoma 1524 4.05895990817173E-5
medulloblastoma, large-cell 6234 8.97653608597941E-5
colon cancer 1475 1.43458059930755E-4
lung cancer 4473 0.00569072338341041
non diabetic and post-ischemic heart failure 200 0.0119466186820794
astrocytic glioma 2241 0.0219649581121834
Breast cancer 3099 0.0286955080578632
subependymal giant cell astrocytoma 2287 0.0454463540868533
oligodendroglioma 2849 0.0484677083735256
Disease Target Count Z-score Confidence
Congenital heart disease 63 3.402 1.7

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -1.300 0.022
oligodendroglioma -1.200 0.048
psoriasis -1.200 0.000
medulloblastoma -1.400 0.000
non diabetic and post-ischemic heart fai... -1.100 0.012
medulloblastoma, large-cell -1.900 0.000
acute quadriplegic myopathy -1.107 0.000
colon cancer -3.100 0.000
lung cancer -1.100 0.006
Breast cancer 2.800 0.029
subependymal giant cell astrocytoma 1.646 0.045

Synonym

Accession P55822 A6ND59 D3DSI2 Q9BRB8 SH3BGR protein
Symbols 21-GARP

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus EggNOG Inparanoid

Gene RIF (3)

PMID Text
27100087 RNA-seq evidence of biallelic expression of SH3BGR and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of SH3BGR is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals.
20532202 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of SH3 domain binding glutamic acid-rich protein (SH3BGR) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells

AA Sequence

MPLLLLGETEPLKLERDCRSPVDPWAAASPDLALACLCHCQDLSSGAFPDRGVLGGVLFPTVEMVIKVFV      1 - 70
ATSSGSIAIRKKQQEVVGFLEANKIDFKELDIAGDEDNRRWMRENVPGEKKPQNGIPLPPQIFNEEQYCG     71 - 140
DFDSFFSAKEENIIYSFLGLAPPPDSKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKNEEEGETATEETE    141 - 210
EIAMEGAEGEAEEEEETAEGEEPGEDEDS                                             211 - 239
//

Text Mined References (10)

PMID Year Title
27100087 2016 Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
20532202 2010 Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
16780588 2006 Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14767758 2004 Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12358155 2002 Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system.
10830953 2000 The DNA sequence of human chromosome 21.
9050928 1997 Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.