AutismKB 2.0

Annotation Detail for SLC4A2


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Basic Information Top
Gene Symbol:SLC4A2 ( AE2,BND3L,EPB3L1,HKB3,NBND3 )
Gene Full Name: solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
Band: 7q36.1
Quick LinksEntrez ID:6522; OMIM: 109280; Uniprot ID:B3A2_HUMAN; ENSEMBL ID: ENSG00000164889; HGNC ID: 11028
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body11 / 70761155
blastocyst3 / 6231948
fetus11 / 56401219
neonate3 / 3109796
infant0 / 236200 
juvenile5 / 5555689
adult135 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor5 / 34366145
chondrosarcoma6 / 8282372
colorectal tumor19 / 114246166
esophageal tumor1 / 1729057
gastrointestinal tumor16 / 119369134
germ cell tumor39 / 263845147
glioma15 / 106883140
head and neck tumor6 / 13630244
kidney tumor6 / 6895987
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor11 / 103127106
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal179 / 336030753
ovarian tumor3 / 7668239
pancreatic tumor27 / 104616258
primitive neuroectodermal tumor of the CNS46 / 125680366
prostate cancer16 / 102680155
retinoblastoma15 / 46356323
skin tumor18 / 124949144
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites5 / 40015124
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain98 / 110098989
cervix9 / 48171186
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye34 / 211054161
heart1 / 8962611
intestine31 / 234472132
kidney8 / 21177737
larynx0 / 241450 
liver6 / 20774328
lung19 / 33697456
lymph0 / 442700 
lymph node3 / 9161032
mammary gland8 / 15327152
mouth0 / 670520 
muscle5 / 10771546
nerve1 / 1576863
ovary4 / 10205139
pancreas35 / 214812162
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta32 / 280825113
prostate19 / 189345100
salivary gland3 / 20155148
skin23 / 210574109
spleen2 / 5395237
stomach6 / 9661962
testis37 / 330442111
thymus4 / 8113149
thyroid2 / 4747342
tonsil4 / 16999235
trachea3 / 5241357
umbilical cord1 / 1368073
uterus20 / 23287885
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202111_at
Cell line Expression level Expression bar
721_B_lymphoblasts62.6
Adipocyte56.9
AdrenalCortex66.55
Adrenalgland41.5
Amygdala49.65
Appendix47.35
AtrioventricularNode36.05
BDCA4+_DentriticCells58.3
Bonemarrow46.85
BronchialEpithelialCells29.5
CD105+_Endothelial29.75
CD14+_Monocytes81.4
CD19+_BCells(neg._sel.)31.1
CD33+_Myeloid83.4
CD34+42.2
CD4+_Tcells47.85
CD56+_NKCells18.2
CD71+_EarlyErythroid28.2
CD8+_Tcells39.75
CardiacMyocytes90.05
Caudatenucleus46.65
Cerebellum44.1
CerebellumPeduncles53.5
CiliaryGanglion33.05
CingulateCortex48.15
Colorectaladenocarcinoma66.65
DorsalRootGanglion49.55
FetalThyroid47.1
Fetalbrain18.4
Fetalliver42.7
Fetallung51.8
GlobusPallidus57.25
Heart85.15
Hypothalamus46.95
Kidney56
Leukemia_chronicMyelogenousK-562146.35
Leukemia_promyelocytic-HL-6032.1
Leukemialymphoblastic(MOLT-4)68.55
Liver182.25
Lung53.3
Lymphnode40.65
Lymphoma_burkitts(Daudi)73.75
Lymphoma_burkitts(Raji)67.5
MedullaOblongata43.55
OccipitalLobe42.7
OlfactoryBulb38.15
Ovary31
Pancreas37
PancreaticIslet55.7
ParietalLobe52.75
Pituitary55.75
Placenta193.25
Pons45.7
PrefrontalCortex40.35
Prostate60.5
Salivarygland37.25
SkeletalMuscle56.95
Skin30.1
SmoothMuscle82.4
Spinalcord53.1
SubthalamicNucleus43.65
SuperiorCervicalGanglion54.8
TemporalLobe45.4
Testis40.7
TestisGermCell29.45
TestisIntersitial35.2
TestisLeydigCell47.5
TestisSeminiferousTubule40.35
Thalamus67.55
Thymus40.2
Thyroid59.9
Tongue49.4
Tonsil43
Trachea43.55
TrigeminalGanglion56.45
Uterus38.9
UterusCorpus54.75
WholeBlood37.6
Wholebrain36.1
colon48.1
pineal_day536.8
pineal_night678.96
retina428
small_intestine45.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8459_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.12 ± 1.03
Basal Forebrain1.64 ± 0.21
Basal Part of Pons1.44 ± 0.57
Cerebellar Cortex1.5 ± 0.71
Cerebellar Nuclei1.88 ± 0.68
Claustrum2.22 ± 0.67
Epithalamus1.51 ± 0.63
Frontal Lobe1.6 ± 0.73
Globus Pallidus2.27 ± 0.65
Hypothalamus1.65 ± 0.8
Insula1.42 ± 0.51
Limbic Lobe1.55 ± 0.62
Mesencephalon1.78 ± 0.72
Myelencephalon1.68 ± 0.68
Occipital Lobe1.39 ± 0.54
Parietal Lobe1.42 ± 0.62
Pontine Tegmentum1.65 ± 0.61
Striatum2.16 ± 0.58
Subthalamus1.75 ± 0.59
Temporal Lobe1.6 ± 0.65
Thalamus1.67 ± 0.62
White Matter3.05 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc4a2CBCerebellum12.76
15.7
Slc4a2CTXCerebral cortex5.13
4.84
Slc4a2HIPHippocampal region3.85
4.85
Slc4a2HPFHippocampal formation3.28
3.59
Slc4a2HYHypothalamus6.82
6.48
Slc4a2LSXLateral septal complex3.28
4.28
Slc4a2MBMidbrain12.9
13.65
Slc4a2MYMedulla39.53
52.32
Slc4a2OLFOlfactory bulb4.46
3.22
Slc4a2PPons31.23
35.83
Slc4a2PALPallidum4.28
3.55
Slc4a2RHPRetrohippocampal region2.89
2.34
Slc4a2sAMYStriatum-like amygdalar nuclei1.18
0.99
Slc4a2STRStriatum3.12
2.73
Slc4a2STRdStriatum dorsal region3.71
2.94
Slc4a2STRvStriatum ventral region2.56
2.36
Slc4a2THThalamus12.91
13.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000628 19 316 334 APHKPHEVFVELNELLLDK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018