AutDB - Autism Database

Gene
CNV
Animal Model
PIN

CD44

Homo sapiens

Gene Name: CD44 molecule (Indian blood group)
Aliases: IN, LHR, MC56, MDU2, MDU3, MIC4, Pgp1, CDW44, HCELL, MUTCH-I, ECMR-III, MGC10468
Chromosome No: 11
Chromosome Band: 11p13
Genetic Category: Functional--Rare single gene variant

Summary Statistics:

ASD Reports: 5
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 12
Evidence score: 2

Associated Disorders:

Summary
Sequence Variants

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

Hu VW , et al. 2006

Support

Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.

ASD

Macrocephaly

Wu H , et al. 2019

Support

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

ASD

Lim ET , et al. 2017

Highly Cited

CD44 is the principal cell surface receptor for hyaluronate.

Aruffo A , et al. 1990

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...

Sarraj B , et al. 2006

Rare

Variant ID

Variant Type

Allele Change

Residue Change

Inheritance Pattern

Inheritance Association

Family Type

Author, Year

GEN041R001

missense_variant

c.1358T>C

p.Phe453Ser

Familial

Maternal

Simplex

Lim ET , et al. 2017

GEN041R002

splice_site_variant

c.1516+1G>A

Familial

Paternal

Simplex

Wu H , et al. 2019

Common

No Common Variants Available

Chromosome

CNV Locus

CNV Type

# of studies

Animal Model

11p13

Deletion-Duplication

11p13-p11.2

Deletion

11p13-p12

Deletion-Duplication

11p14.1-p11.2

Deletion

11p14.1-p12

Deletion

11p14.2-p12

Deletion

11p14.3-p11.2

Deletion

11p14.3-p12

Deletion

11p14.3-p13

Deletion

11p15.1-p11.2

Deletion

11p15.1-p12

Deletion

11p15.1-p13

Deletion

No Animal Model Data Available

CD44

Homo sapiens

Gene Name: CD44 molecule (Indian blood group)
Gene Aliases: CDW44, CSPG8, ECMR-III, HCELL, HUTCH-I, IN, LHR, M

Summary Statistics:

Total Interactions: 53
Total Publications: 5

Interactome
Interaction Table

Download CD44's Cytoscape file

Interactor Symbol	Interactor Name	Entrez ID	Uniprot ID	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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Relevance to Autism

Molecular Function

External Links

References

Rare

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