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Relevance to Autism

Differential expression of the CD44 gene has been shown to occur in some autistic individuals (Hu et al., 2006).

Molecular Function

The encoded protein is a receptor for hyaluronic acid. It is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
CD44 is the principal cell surface receptor for hyaluronate.
Recent Recommendation
Expression of CD44 and L-selectin in the innate immune system is required for severe joint inflammation in the proteoglycan-induced murine model of...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN041R001 
 missense_variant 
 T>C 
 p.Phe453Ser 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 25
 
11
Deletion
 2
 
11
Deletion-Duplication
 2
 
11
Deletion
 1
 
11
Deletion
 3
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 2
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ADAM10 ADAM metallopeptidase domain 10 102 O14672 bimolecular fluorescence complementation assay; IP/WB
Hartmann M , et al. 2015
AMPD2 adenosine monophosphate deaminase 2 271 B2RB47 IP; LC-MS/MS
Huttlin EL , et al. 2015
AQR aquarius homolog (mouse) 9716 O60306 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATG9A autophagy related 9A 79065 Q7Z3C6 IP; LC-MS/MS
Huttlin EL , et al. 2015
C17ORF42 Transcription elongation factor, mitochondrial 79736 Q96QE5 IP; LC-MS/MS
Huttlin EL , et al. 2015
C17ORF80 chromosome 17 open reading frame 80 55028 Q9BSJ5 IP; LC-MS/MS
Huttlin EL , et al. 2015
CAMKV CaM kinase-like vesicle-associated protein 79012 Q8NCB2-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CD44 CD44 molecule (Indian blood group) 960 P16070 Proximity ligation assay
Jokela T , et al. 2015
CD44 CD44 molecule (Indian blood group) 960 P16070 bimolecular fluorescence complementation assay
Hartmann M , et al. 2015
CDC40 cell division cycle 40 51362 O60508 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC5L CDC5 cell division cycle 5-like (S. pombe) 988 Q99459 IP; LC-MS/MS
Huttlin EL , et al. 2015
CLCN7 chloride channel, voltage-sensitive 7 1186 P51798 IP; LC-MS/MS
Huttlin EL , et al. 2015
DHRS2 Dehydrogenase/reductase SDR family member 2, mitochondrial 10202 Q13268 IP; LC-MS/MS
Huttlin EL , et al. 2015
EZR ezrin 7430 P15311 IP/WB; Co-localization; Proximity ligation assay
Jokela T , et al. 2015
FAM115C TRPM8 channel-associated factor 2 285966 A6NFQ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
FGF2 fibroblast growth factor 2 (basic) 2247 P09038 IP; LC-MS/MS
Huttlin EL , et al. 2015
FGFR1 fibroblast growth factor receptor 1 2260 P11362 IP; LC-MS/MS
Huttlin EL , et al. 2015
FGFR2 fibroblast growth factor receptor 2 2263 P21802 IP; LC-MS/MS
Huttlin EL , et al. 2015
FGFRL1 fibroblast growth factor receptor-like 1 53834 A0PJ49 IP; LC-MS/MS
Huttlin EL , et al. 2015
GBAS glioblastoma amplified sequence 2631 O75323 IP; LC-MS/MS
Huttlin EL , et al. 2015
GMEB1 glucocorticoid modulatory element binding protein 1 10691 B2RCN8 IP; LC-MS/MS
Huttlin EL , et al. 2015
GMEB2 glucocorticoid modulatory element binding protein 2 26205 Q9UKD1 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa 2975 Q12789 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF3C3 general transcription factor IIIC, polypeptide 3, 102kDa 9330 Q9Y5Q9 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF3C6 general transcription factor IIIC, polypeptide 6, alpha 35kDa NM_138408 Q969F1 IP; LC-MS/MS
Huttlin EL , et al. 2015
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 3030 E9KL44 IP; LC-MS/MS
Huttlin EL , et al. 2015
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 3032 P55084 IP; LC-MS/MS
Huttlin EL , et al. 2015
ISY1 ISY1 splicing factor homolog (S. cerevisiae) 57461 Q9ULR0 IP; LC-MS/MS
Huttlin EL , et al. 2015
LAMA3 laminin, alpha 3 3909 Q16787 IP; LC-MS/MS
Huttlin EL , et al. 2015
LEMD3 LEM domain containing 3 23592 Q9Y2U8 IP; LC-MS/MS
Huttlin EL , et al. 2015
LGALS1 Galectin-1 3956 P09382 IP; LC-MS/MS
Huttlin EL , et al. 2015
MBOAT7 membrane bound O-acyltransferase domain containing 7 79143 Q96N66 IP; LC-MS/MS
Huttlin EL , et al. 2015
METTL8 methyltransferase like 8 79828 A8K7U3 IP; LC-MS/MS
Huttlin EL , et al. 2015
MSN moesin 4478 P26038 IP/WB
Parra LM , et al. 2015
MTCH2 mitochondrial carrier 2 23788 Q9Y6C9 IP; LC-MS/MS
Huttlin EL , et al. 2015
NF2 neurofibromin 2 (merlin) 4771 P35240 IP/WB
Parra LM , et al. 2015
OSBPL8 oxysterol binding protein-like 8 114882 Q5HYM3 IP; LC-MS/MS
Huttlin EL , et al. 2015
PARP2 poly (ADP-ribose) polymerase 2 10038 Q9UGN5 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRDM10 PR domain containing 10 56980 Q9NQV6 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRKCI protein kinase C, iota NM_002740 P41743 IP; LC-MS/MS
Huttlin EL , et al. 2015
RBM22 RNA binding motif protein 22 55696 Q9NW64 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC39A9 solute carrier family 39 (zinc transporter), member 9 55334 Q9NUM3 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNX18 sorting nexin 18 112574 Q96RF0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNX33 Sorting nexin-33 257364 Q8WV41 IP; LC-MS/MS
Huttlin EL , et al. 2015
SQSTM1 sequestosome 1 8878 Q13501 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM160 Transmembrane protein 160 54958 Q9NX00 IP; LC-MS/MS
Huttlin EL , et al. 2015
TNPO2 transportin 2 30000 O14787 IP; LC-MS/MS
Huttlin EL , et al. 2015
VANGL1 VANGL planar cell polarity protein 1 81839 Q8TAA9 IP; LC-MS/MS
Huttlin EL , et al. 2015
VANGL2 Vang-like protein 2 57216 Q9ULK5 IP; LC-MS/MS
Huttlin EL , et al. 2015
VCAN versican 1462 P13611 IP; LC-MS/MS
Huttlin EL , et al. 2015
XAB2 XPA binding protein 2 56949 Q9HCS7 IP; LC-MS/MS
Huttlin EL , et al. 2015
MSN moesin 17698 P26041 GST
Yonemura S , et al. 1998

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