Gene Page: SLC4A8

Summary ?
GeneID9498
SymbolSLC4A8
SynonymsNBC3|NDCBE
Descriptionsolute carrier family 4 member 8
ReferenceMIM:605024|HGNC:HGNC:11034|Ensembl:ENSG00000050438|HPRD:05430|Vega:OTTHUMG00000169489
Gene typeprotein-coding
Map location12q13.13
Pascal p-value0.075
Sherlock p-value0.028
Fetal beta-0.302
eGeneMyers' cis & trans
SupportCompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
SLC4A8chr1251844742CCCGGAGANM_001039960
NM_001258401
NM_001258402
NM_001258403
NM_001267615		.
.
.
.
.		codon-insertion
codon-insertion
codon-insertion
codon-insertion
codon-insertion		SchizophreniaDNM:Fromer_2014
SLC4A8chr1251868866CTNM_001039960
NM_001258401
NM_001258403		p.683A>V
p.630A>V
p.630A>V		missense
missense
missense		SchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs8043758chr1679895146SLC4A894980.12trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT 241157All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF INORGANIC CATIONS ANIONS AND AMINO ACIDS OLIGOPEPTIDES 9465All SZGR 2.0 genes in this pathway
HUTTMANN B CLL POOR SURVIVAL DN 6039All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL UP 380215All SZGR 2.0 genes in this pathway
DOANE BREAST CANCER ESR1 UP 11272All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR 532309All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473224All SZGR 2.0 genes in this pathway
KONDO EZH2 TARGETS 245148All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317208All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BRAIN DN 8558All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE UP 9761All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
BREDEMEYER RAG SIGNALING VIA ATM NOT VIA NFKB DN 3823All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS UP 387225All SZGR 2.0 genes in this pathway
DURAND STROMA NS UP 162103All SZGR 2.0 genes in this pathway