AutismKB 2.0

Annotation Detail for IGHMBP2


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Basic Information Top
Gene Symbol:IGHMBP2 ( CATF1,FLJ34220,FLJ41171,HCSA,HMN6,SMARD1,SMUBP2 )
Gene Full Name: immunoglobulin mu binding protein 2
Band: 11q13.3
Quick LinksEntrez ID:3508; OMIM: 600502; Uniprot ID:SMBP2_HUMAN; ENSEMBL ID: ENSG00000132740; HGNC ID: 5542
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 body1 / 7076114
blastocyst1 / 6231916
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult55 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor20 / 26384575
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor11 / 103127106
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal114 / 336030733
ovarian tumor3 / 7668239
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone7 / 7165597
bone marrow2 / 4880140
brain54 / 110098949
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine5 / 23447221
kidney3 / 21177714
larynx2 / 2414582
liver2 / 2077439
lung16 / 33697447
lymph1 / 4427022
lymph node1 / 9161010
mammary gland2 / 15327113
mouth2 / 6705229
muscle8 / 10771574
nerve1 / 1576863
ovary4 / 10205139
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate6 / 18934531
salivary gland1 / 2015549
skin2 / 2105749
spleen7 / 53952129
stomach1 / 9661910
testis41 / 330442124
thymus8 / 8113198
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 31861_at
Cell line Expression level Expression bar
721_B_lymphoblasts2.8
Adipocyte2.2
AdrenalCortex2.2
Adrenalgland1.85
Amygdala2.35
Appendix2.2
AtrioventricularNode1.55
BDCA4+_DentriticCells2.5
Bonemarrow2.25
BronchialEpithelialCells2.2
CD105+_Endothelial4.4
CD14+_Monocytes3
CD19+_BCells(neg._sel.)2.3
CD33+_Myeloid6.3
CD34+4.75
CD4+_Tcells2.4
CD56+_NKCells3.65
CD71+_EarlyErythroid2.05
CD8+_Tcells2.2
CardiacMyocytes2.75
Caudatenucleus2
Cerebellum1.8
CerebellumPeduncles2.45
CiliaryGanglion1.45
CingulateCortex2.3
Colorectaladenocarcinoma2.25
DorsalRootGanglion1.65
FetalThyroid2.15
Fetalbrain2.2
Fetalliver2
Fetallung1.9
GlobusPallidus1.55
Heart2.75
Hypothalamus2.45
Kidney1.75
Leukemia_chronicMyelogenousK-5622
Leukemia_promyelocytic-HL-601.95
Leukemialymphoblastic(MOLT-4)1.8
Liver2.85
Lung2.5
Lymphnode1.9
Lymphoma_burkitts(Daudi)2.85
Lymphoma_burkitts(Raji)3
MedullaOblongata2.05
OccipitalLobe2
OlfactoryBulb1.7
Ovary1.45
Pancreas1.75
PancreaticIslet2.35
ParietalLobe2.25
Pituitary2.6
Placenta2.3
Pons2.05
PrefrontalCortex2.8
Prostate2.85
Salivarygland1.8
SkeletalMuscle2.35
Skin1.65
SmoothMuscle2.55
Spinalcord2.4
SubthalamicNucleus1.9
SuperiorCervicalGanglion2.4
TemporalLobe1.95
Testis2.15
TestisGermCell1.9
TestisIntersitial1.85
TestisLeydigCell2.75
TestisSeminiferousTubule1.9
Thalamus2.25
Thymus1.8
Thyroid2.8
Tongue2.05
Tonsil2.1
Trachea1.85
TrigeminalGanglion2.1
Uterus1.85
UterusCorpus1.95
WholeBlood2.5
Wholebrain1.9
colon2.3
pineal_day2.72
pineal_night2.66
retina2.725
small_intestine2.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5697_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
Amygdala3.42 ± 1.14
Basal Forebrain3.47 ± 0.51
Basal Part of Pons2.88 ± 0.58
Cerebellar Cortex3.26 ± 1.01
Cerebellar Nuclei3.47 ± 0.56
Claustrum4.04 ± 1.24
Epithalamus2.79 ± 0.39
Frontal Lobe2.97 ± 0.81
Globus Pallidus3.49 ± 0.57
Hypothalamus3.18 ± 0.61
Insula2.72 ± 0.65
Limbic Lobe3.16 ± 0.92
Mesencephalon3.45 ± 0.92
Myelencephalon3.12 ± 0.86
Occipital Lobe3.18 ± 0.86
Parietal Lobe3.05 ± 0.84
Pontine Tegmentum3.07 ± 0.95
Striatum3.17 ± 0.72
Subthalamus3.14 ± 0.4
Temporal Lobe3.04 ± 0.88
Thalamus3.07 ± 0.81
White Matter3.39 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ighmbp2CBCerebellum2.81
2.95
Ighmbp2CTXCerebral cortex1.34
1.16
Ighmbp2HIPHippocampal region4.43
4.76
Ighmbp2HPFHippocampal formation3.28
3.42
Ighmbp2HYHypothalamus1.08
0.96
Ighmbp2LSXLateral septal complex0.49
0.35
Ighmbp2MBMidbrain0.78
1.09
Ighmbp2MYMedulla1.2
1.47
Ighmbp2OLFOlfactory bulb2.67
1.94
Ighmbp2PPons1.18
1.93
Ighmbp2PALPallidum0.49
0.52
Ighmbp2RHPRetrohippocampal region1.51
1.59
Ighmbp2sAMYStriatum-like amygdalar nuclei0.15
0.31
Ighmbp2STRStriatum0.53
0.46
Ighmbp2STRdStriatum dorsal region0.2
0.18
Ighmbp2STRvStriatum ventral region1.8
1.38
Ighmbp2THThalamus0.74
0.64
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SMBP2_HUMAN_680 12 680 691 QEGGQEAAAPAR PRIDE

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


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