KHDRBS2 (KH RNA binding domain containing, signal transduction associated 2)

Gene

• Entrez ID: 202559
• Gene name: KH RNA binding domain containing, signal transduction associated 2
• Gene symbol: KHDRBS2
• Synonyms (NCBI Gene): KHDRBS2-OT, KHDRBS2-OT1, SLM-1, SLM1
• Chromosome: 6
• Chromosome location: 6q11.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018184	hsa-miR-335-5p	Microarray	18185580
MIRT019320	hsa-miR-148b-3p	Microarray	17612493
MIRT1085228	hsa-miR-1238	CLIP-seq
MIRT1085229	hsa-miR-3140-3p	CLIP-seq
MIRT1085230	hsa-miR-3143	CLIP-seq
MIRT1085231	hsa-miR-323-3p	CLIP-seq
MIRT1085232	hsa-miR-3591-5p	CLIP-seq
MIRT1085233	hsa-miR-3613-3p	CLIP-seq
MIRT1085234	hsa-miR-371b-5p	CLIP-seq
MIRT1085235	hsa-miR-4255	CLIP-seq
MIRT1085236	hsa-miR-4282	CLIP-seq
MIRT1085237	hsa-miR-4310	CLIP-seq
MIRT1085238	hsa-miR-4668-3p	CLIP-seq
MIRT1085239	hsa-miR-4729	CLIP-seq
MIRT1085240	hsa-miR-4759	CLIP-seq
MIRT1085241	hsa-miR-4760-3p	CLIP-seq
MIRT1085242	hsa-miR-4789-5p	CLIP-seq
MIRT1085243	hsa-miR-4795-3p	CLIP-seq
MIRT1085244	hsa-miR-4799-5p	CLIP-seq
MIRT1085245	hsa-miR-495	CLIP-seq
MIRT2021729	hsa-miR-511	CLIP-seq
MIRT2253269	hsa-miR-183	CLIP-seq
MIRT2253270	hsa-miR-4470	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	16189514, 19282290, 21516116, 25416956, 25910212, 26871637, 27107012, 29892012, 30886144, 31413325, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0008143	Function	Poly(A) binding	IBA
GO:0008143	Function	Poly(A) binding	IEA
GO:0008266	Function	Poly(U) RNA binding	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0042169	Function	SH2 domain binding	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IEA

Other IDs

• MIM: 610487
• HGNC: 18114
• e!Ensembl: ENSG00000112232

Protein

• UniProt ID: Q5VWX1
• Protein name: KH domain-containing, RNA-binding, signal transduction-associated protein 2 (Sam68-like mammalian protein 1) (SLM-1) (hSLM-1)
• Protein function: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16274	Qua1	5 → 57	Qua1 domain	Domain
  PF00013	KH_1	61 → 130	KH domain	Domain
  PF16568	Sam68-YY	267 → 321	Tyrosine-rich domain of Sam68	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain, lung, kidney and small intestine. Weakly expressed in placenta, liver, spleen, thymus, ovary and colon. {ECO:0000269|PubMed:12549823}.
• Sequence:

  MEEEKYLPELMAEKDSLDPSFVHASRLLAEEIEKFQGSDGKKEDEEKKYLDVISNKNIKL
  SERVLIPVKQYPKFNFVGKLLGPRGNSLKRLQEETGAKMSILGKGSMRDKAKEEELRKSG
  EAKYAHLSDELHVLIEVFAPPGEAYSRMSHALEEIKKFLVPDYNDEIRQEQLRELSYLNG
  SEDSGRGRGIRGRGIRIAPTAPSRGRGGAIPPPPPPGRGVLTPRGSTVTRGALPVPPVAR
  GVPTPRARGAPTVPGYRAPPPPAHEAYEEYGYDDGYGGEYDDQTYETYDNSYATQTQSVP
  EYYDYGHGVSEDAYDSYAPEEWATTRSSLKAPPQRSARGGYREHPYGRY

• Sequence length: 349

Pathways

Reactome:

PTK6 Regulates Proteins Involved in RNA Processing

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	21151896, 36353226
Alzheimer Disease	Associate	24958192
Carcinoma Renal Cell	Associate	22610075, 24899691
Nasopharyngeal Carcinoma	Associate	36438903