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	21873635
GO:0003729	Function	MRNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16189514, 19282290, 21516116, 25416956, 25910212, 26871637, 27107012, 29892012, 30886144, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0008143	Function	Poly(A) binding	IBA	21873635
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	IBA	21873635

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	21499247

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary artery disease	Coronary artery disease			GWAS
Gout	Gout			GWAS
Hypertension	Hypertension			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