AutDB - Autism Database

Gene
CNV
Animal Model
PIN

KHDRBS2

Homo sapiens

Gene Name: KH domain containing, RNA binding, signal transduction associated 2
Aliases: SLM-1, SLM1, bA535F17.1
Chromosome No: 6
Chromosome Band: 6q11.1
Genetic Category: Rare Single Gene variant-Rare single gene variant/multigenic CNV

Summary Statistics:

ASD Reports: 4
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: 2

Associated Disorders:

Summary
Sequence Variants

Relevance to Autism

A rare deletion of an intronic segment within the KHDRBS2 gene has been identified with ASD (Salyakina et al., 2011).

Molecular Function

RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. Its phosphorylation by PTK6 inhibits its RNA-binding ability. May function as an adapter protein for Src kinases during mitosis. Binds both poly(A) and poly(U) homopolymers.

External Links

References

Type

Title

Type of Disorder

Associated Disorders

Author, Year

Primary

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

ASD

Salyakina D , et al. 2011

Support

Mutational Landscape of Autism Spectrum Disorder Brain Tissue

ASD

Woodbury-Smith M et al. 2022

Support

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.

ASD

Ruzzo EK , et al. 2019

Support

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

ASD

Girirajan S , et al. 2013

Rare

Variant ID

Variant Type

Allele Change

Residue Change

Inheritance Pattern

Inheritance Association

Family Type

Author, Year

GEN294R001

copy_number_loss

Familial

Maternal

Extended multiplex

Salyakina D , et al. 2011

GEN294R002

copy_number_gain

Familial

Maternal

Simplex

Girirajan S , et al. 2013

GEN294R003

copy_number_gain

Familial

Maternal

Simplex

Girirajan S , et al. 2013

GEN294R004

copy_number_gain

Familial

Paternal

Multiplex

Girirajan S , et al. 2013

GEN294R005

stop_gained

c.736C>T

p.Arg246Ter

Familial

Maternal

Multiplex (monozygotic twins)

Ruzzo EK , et al. 2019

GEN294R006

missense_variant

c.890A>G

p.Tyr297Cys

Unknown

Woodbury-Smith M et al. 2022

Common

No Common Variants Available

Chromosome

CNV Locus

CNV Type

# of studies

Animal Model

6p11.2-q11.1

Duplication

6q11.1

Deletion-Duplication

6q11.1-q12

Duplication

6q11.1-q14.1

Deletion

No Animal Model Data Available

KHDRBS2

Homo sapiens

Gene Name: KH domain containing, RNA binding, signal transduc
Gene Aliases: SLM1; SLM-1; bA535F17.1

Summary Statistics:

Total Interactions: 106
Total Publications: 8

Interactome
Interaction Table

Download KHDRBS2's Cytoscape file

Interactor Symbol	Interactor Name	Entrez ID	Uniprot ID	Evidence	Reference
ACAA1	3-ketoacyl-CoA thiolase, peroxisomal	30	P09110	IP; LC-MS/MS	Huttlin EL , et al. 2015
ACAD11	Acyl-CoA dehydrogenase family member 11	84129	Q709F0	IP; LC-MS/MS	Huttlin EL , et al. 2015
ACOX1	acyl-CoA oxidase 1, palmitoyl	51	B4DK61	IP; LC-MS/MS	Huttlin EL , et al. 2015
AEN	apoptosis enhancing nuclease	64782	Q8WTP8	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
ARID2	AT rich interactive domain 2 (ARID, RFX-like)	196528	Q68CP9	LC-MS/MS	Jeronimo C , et al. 2007
ATG7	autophagy related 7	10533	O95352	IP; LC-MS/MS	Huttlin EL , et al. 2015
AURKA	aurora kinase A	6790	O14965	IP; LC-MS/MS	Huttlin EL , et al. 2015
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase	8945	B2R8L3	IP; LC-MS/MS	Huttlin EL , et al. 2015
CAPG	Macrophage-capping protein	822	P40121	IP; LC-MS/MS	Huttlin EL , et al. 2015
CATSPER1	cation channel, sperm associated 1	117144	Q8NEC5	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
CHTOP	chromatin target of PRMT1	26097	Q9Y3Y2	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
CIRBP	cold inducible RNA binding protein	1153	Q14011	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
CRBN	Protein cereblon	51185	Q96SW2	IP; LC-MS/MS	Huttlin EL , et al. 2015
CTC1	CTS telomere maintenance complex component 1	80169	Q2NKJ3	IP; LC-MS/MS	Huttlin EL , et al. 2015
CUL1	cullin 1	8454	Q13616	IP; LC-MS/MS	Huttlin EL , et al. 2015
DDX17	DEAD (Asp-Glu-Ala-Asp) box helicase 17	10521	Q59F66	LC-MS/MS	Jeronimo C , et al. 2007
DDX5	DEAD (Asp-Glu-Ala-Asp) box helicase 5	1655	P17844	LC-MS/MS	Jeronimo C , et al. 2007
DEK	DEK oncogene	7913	P35659	LC-MS/MS	Jeronimo C , et al. 2007
DOCK2	dedicator of cytokinesis 2	1794	Q5XG91	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
DSG1	desmoglein 1	1828	Q02413	LC-MS/MS	Jeronimo C , et al. 2007
EHBP1	EH domain binding protein 1	23301	Q8NDI1	LC-MS/MS	Jeronimo C , et al. 2007
EWSR1	Ewing sarcoma breakpoint region 1	2130	Q01844	Y2H	Rual JF , et al. 2005
FBXW11	F-box and WD repeat domain containing 11	23291	Q9UKB1	LC-MS/MS	Jeronimo C , et al. 2007
FBXW11	F-box and WD repeat domain containing 11	23291	Q9UKB1	IP; LC-MS/MS	Huttlin EL , et al. 2015
FGA	fibrinogen alpha chain	2243	P02671	LC-MS/MS	Jeronimo C , et al. 2007
FGB	fibrinogen beta chain	2244	P02675	LC-MS/MS	Jeronimo C , et al. 2007
FGG	fibrinogen gamma chain	2266	P02679	LC-MS/MS	Jeronimo C , et al. 2007
FOXA3	Hepatocyte nuclear factor 3-gamma	3171	P55318	IP; LC-MS/MS	Huttlin EL , et al. 2015
FYN	FYN oncogene related to SRC, FGR, YES	2534	P06241	in vivo kinase assay; IP/WB	Di Fruscio M , et al. 1999
GRB2	growth factor receptor-bound protein 2	2885	P62993	IP/WB	Di Fruscio M , et al. 1999
HBZ	hemoglobin, zeta	3050	P02008	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
HDAC8	histone deacetylase 8	55869	Q9BY41	GST; In vivo acetylation assay; in vitro kinase assay; AMPK kinase assay; IP/WB	Lin YY , et al. 2012
HNRNPA0	heterogeneous nuclear ribonucleoprotein A0	10949	Q13151	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPA1	heterogeneous nuclear ribonucleoprotein A1	3178	P09651	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	3181	P22626	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPC	heterogeneous nuclear ribonucleoprotein C (C1/C2)	3183	P07910	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPD	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	3184	Q14103	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPH1	heterogeneous nuclear ribonucleoprotein H1 (H)	3187	P31943	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPH3	heterogeneous nuclear ribonucleoprotein H3 (2H9)	3189	P31942	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPK	heterogeneous nuclear ribonucleoprotein K	3190	P61978	LC-MS/MS; Y2H	Jeronimo C , et al. 2007
HNRNPL	heterogeneous nuclear ribonucleoprotein L	3191	P14866	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPR	heterogeneous nuclear ribonucleoprotein R	10236	O43390	LC-MS/MS	Jeronimo C , et al. 2007
HNRNPR	heterogeneous nuclear ribonucleoprotein R	10236	O43390	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
HNRNPUL2	heterogeneous nuclear ribonucleoprotein U-like 2	221092	Q1KMD3	LC-MS/MS	Jeronimo C , et al. 2007
HNRPDL	heterogeneous nuclear ribonucleoprotein D-like	9987	O14979	LC-MS/MS	Jeronimo C , et al. 2007
HRNR	hornerin	388697	Q86YZ3	LC-MS/MS	Jeronimo C , et al. 2007
HSP90AB1	heat shock protein 90kDa alpha (cytosolic), class B member 1	3326	P08238	LC-MS/MS	Jeronimo C , et al. 2007
IGF2BP1	insulin-like growth factor 2 mRNA binding protein 1	10642	Q9NZI8	LC-MS/MS	Jeronimo C , et al. 2007
IGF2BP3	insulin-like growth factor 2 mRNA binding protein 3	10643	O00425	LC-MS/MS	Jeronimo C , et al. 2007
ILF2	interleukin enhancer binding factor 2	3608	Q12905	LC-MS/MS	Jeronimo C , et al. 2007
ILF3	interleukin enhancer binding factor 3, 90kDa	3609	Q12906	LC-MS/MS	Jeronimo C , et al. 2007
KHDRBS1	KH domain containing, RNA binding, signal transduction associated 1	10657	Q07666	IP/WB	Di Fruscio M , et al. 1999
KHDRBS1	KH domain containing, RNA binding, signal transduction associated 1	10657	Q07666	LC-MS/MS	Jeronimo C , et al. 2007
KHDRBS1	KH domain containing, RNA binding, signal transduction associated 1	10657	Q07666	IP; LC-MS/MS	Huttlin EL , et al. 2015
KHDRBS2	KH domain containing, RNA binding, signal transduction associated 2	202559	Q5VWX1	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
KHDRBS3	KH domain containing, RNA binding, signal transduction associated 3	10656	O75525	Y2H	Rual JF , et al. 2005
KHDRBS3	KH domain containing, RNA binding, signal transduction associated 3	10656	O75525	IP; LC-MS/MS	Huttlin EL , et al. 2015
KLHDC5	kelch-like family member 42	57542	B2RNT7	IP; LC-MS/MS	Huttlin EL , et al. 2015
LINC01018	long intergenic non-protein coding RNA 1018	255167		Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
LRRC15	leucine rich repeat containing 15	131578	Q8TF66	LC-MS/MS	Jeronimo C , et al. 2007
MAPK3	mitogen-activated protein kinase 3	5595	P27361	IP; LC-MS/MS	Huttlin EL , et al. 2015
MOV10	Mov10, Moloney leukemia virus 10, homolog (mouse)	4343	Q9HCE1	LC-MS/MS	Jeronimo C , et al. 2007
MRPS27	mitochondrial ribosomal protein S27	23107	Q92552	LC-MS/MS	Jeronimo C , et al. 2007
MTA1	metastasis associated 1	9112	Q13330	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
MVK	Mevalonate kinase	4598	Q03426	IP; LC-MS/MS	Huttlin EL , et al. 2015
NABP1	nucleic acid binding protein 1	64859	Q96AH0	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
NAGK	N-acetylglucosamine kinase	55577	Q9UJ70	IP; LC-MS/MS	Huttlin EL , et al. 2015
NCOA5	nuclear receptor coactivator 5	57727	Q9HCD5	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
NPDC1	neural proliferation, differentiation and control, 1	56654	Q9NQX5	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
NUSAP1	nucleolar and spindle associated protein 1	51203	Q9BXS6	LC-MS/MS	Jeronimo C , et al. 2007
PLCG1	phospholipase C, gamma 1	5335	P19174	IP/WB	Di Fruscio M , et al. 1999
PLCG1	phospholipase C, gamma 1	5335	P19174	IP; LC-MS/MS	Huttlin EL , et al. 2015
PRMT1	protein arginine methyltransferase 1	3276	B4E3C3	LC-MS/MS	Jeronimo C , et al. 2007
PRMT5	protein arginine methyltransferase 5	10419	O14744	LC-MS/MS	Jeronimo C , et al. 2007
PRPF31	PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)	26121	F1T0A5	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
PRR3	proline rich 3	80742	B3KQA4	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
PTER	phosphotriesterase related	9317	Q96BW5	IP; LC-MS/MS	Huttlin EL , et al. 2015
PTK6	Protein-tyrosine kinase 6	5753	Q13882	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
RASA1	RAS p21 protein activator (GTPase activating protein) 1	5921	P20936	IP/WB	Di Fruscio M , et al. 1999
RBM3	RNA binding motif (RNP1, RRM) protein 3	5935	P98179	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
RBM39	RNA binding motif protein 39	9584	Q14498	LC-MS/MS	Jeronimo C , et al. 2007
RBMX	RNA binding motif protein, X-linked	27316	P38159	Y2H	Rual JF , et al. 2005
RBMX	RNA binding motif protein, X-linked	27316	P38159	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
RFWD2	ring finger and WD repeat domain 2	64326	Q8NHY2	IP; LC-MS/MS	Huttlin EL , et al. 2015
RPAP2	RNA polymerase II associated protein 2	79871	Q8IXW5	LC-MS/MS	Jeronimo C , et al. 2007
RPS3	ribosomal protein S3	6188	P23396	LC-MS/MS	Jeronimo C , et al. 2007
SAFB	scaffold attachment factor B	6294	Q15424	LC-MS/MS	Jeronimo C , et al. 2007
SDCBP	syndecan binding protein (syntenin)	6386	O00560	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
SPG7	spastic paraplegia 7 (pure and complicated autosomal recessive)	6687	Q9UQ90	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
SULT1A3	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3	6818	P0DMM9	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
SUPT5H	suppressor of Ty 5 homolog (S. cerevisiae)	6829	O00267	IP; LC-MS/MS	Huttlin EL , et al. 2015
SUZ12	suppressor of zeste 12 homolog (Drosophila)	23512	A8K1U9	IP; LC-MS/MS	Huttlin EL , et al. 2015
SYNCRIP	synaptotagmin binding, cytoplasmic RNA interacting protein	10492	B7Z645	LC-MS/MS	Jeronimo C , et al. 2007
TAF3	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	83860	Q5VWG9	LC-MS/MS	Jeronimo C , et al. 2007
TARDBP	TAR DNA binding protein	23435	Q13148	LC-MS/MS	Jeronimo C , et al. 2007
TYK2	tyrosine kinase 2	7297	P29597	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
TYMSOS	TYMS opposite strand	494514	Q8TAI1	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
UBC	ubiquitin C	7316	P63279	MS	Wagner SA , et al. 2011
USP7	ubiquitin specific peptidase 7 (herpes virus-associated)	7874	Q93009	IP; LC-MS/MS	Huttlin EL , et al. 2015
WDR45L	WD repeat domain 45B	56270	Q5MNZ6	IP; LC-MS/MS	Huttlin EL , et al. 2015
WDR77	WD repeat domain 77	79084	Q9BQA1	LC-MS/MS	Jeronimo C , et al. 2007
YBX1	Y box binding protein 1	4904	P67809	LC-MS/MS	Jeronimo C , et al. 2007
YRDC	yrdC domain containing (E. coli)	79693	Q86U90	IP; LC-MS/MS	Huttlin EL , et al. 2015
YTHDC1	YTH domain containing 1	91746	Q96MU7	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
ZFC3H1	zinc finger, C3H1-type containing	196441	O60293	Y2H; bimolecular fluorescence complementation assay	Rolland T , et al. 2014
ARX	aristaless related homeobox	11878	O35085	ChIP-qPCR	Quill ML , et al. 2011

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References

Rare

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