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Aliases for KHDRBS2 Gene

Aliases for KHDRBS2 Gene

  • KH Domain Containing, RNA Binding, Signal Transduction Associated 2 2 3
  • Sam68-Like Mammalian Protein 1 2 3 4
  • SLM1 3 4 6
  • HSLM-1 3 4
  • SLM-1 3 4
  • KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein 2 3
  • BA535F17.1 3

External Ids for KHDRBS2 Gene

Summaries for KHDRBS2 Gene

GeneCards Summary for KHDRBS2 Gene

KHDRBS2 (KH Domain Containing, RNA Binding, Signal Transduction Associated 2) is a Protein Coding gene. GO annotations related to this gene include protein heterodimerization activity and SH2 domain binding. An important paralog of this gene is KHDRBS1.

UniProtKB/Swiss-Prot for KHDRBS2 Gene

  • 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. Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. May function as an adapter protein for Src kinases during mitosis. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDRBS2 Gene

Genomics for KHDRBS2 Gene

Genomic Location for KHDRBS2 Gene

Start:
61,630,434 bp from pter
End:
62,286,227 bp from pter
Size:
655,794 bases
Orientation:
Minus strand

Genomic View for KHDRBS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KHDRBS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDRBS2 Gene

Regulatory Elements for KHDRBS2 Gene

Proteins for KHDRBS2 Gene

  • Protein details for KHDRBS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VWX1-KHDR2_HUMAN
    Recommended name:
    KH domain-containing, RNA-binding, signal transduction-associated protein 2
    Protein Accession:
    Q5VWX1
    Secondary Accessions:
    • A8K7M8
    • Q8N4I4
    • Q8TCZ4

    Protein attributes for KHDRBS2 Gene

    Size:
    349 amino acids
    Molecular mass:
    38927 Da
    Quaternary structure:
    • Self-associates to form homooligomers. Interacts with SAFB, SFRS9 and YTHDC1. Found in a complex with KHDRBS1, KHDRBS2 and KHDRBS3. Interacts with the SH3 domains of FYN and PLCG1. Interacts with the SH2 domains of FYN, GRAP2, PLCG1 and RASA1 (By similarity). Interacts with RBMX.

neXtProt entry for KHDRBS2 Gene

Proteomics data for KHDRBS2 Gene at MOPED

Post-translational modifications for KHDRBS2 Gene

Other Protein References for KHDRBS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KHDRBS2 Gene

Domains for KHDRBS2 Gene

Protein Domains for KHDRBS2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

KHDR2_HUMAN
Domain:
  • Contains 1 KH domain.:
    • Q5VWX1
Family:
  • Belongs to the KHDRBS family.:
    • Q5VWX1
genes like me logo Genes that share domains with KHDRBS2: view

No data available for Gene Families for KHDRBS2 Gene

Function for KHDRBS2 Gene

Molecular function for KHDRBS2 Gene

UniProtKB/Swiss-Prot 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. Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. May function as an adapter protein for Src kinases during mitosis. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity).

Gene Ontology (GO) - Molecular Function for KHDRBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding --
GO:0005515 protein binding IPI 16189514
GO:0008143 poly(A) binding IEA --
GO:0008266 poly(U) RNA binding IEA --
genes like me logo Genes that share ontologies with KHDRBS2: view

miRNA for KHDRBS2 Gene

miRTarBase miRNAs that target KHDRBS2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KHDRBS2 Gene

Localization for KHDRBS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDRBS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KHDRBS2 Gene COMPARTMENTS Subcellular localization image for KHDRBS2 gene
Compartment Confidence
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for KHDRBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with KHDRBS2: view

Pathways for KHDRBS2 Gene

SuperPathways for KHDRBS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KHDRBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with KHDRBS2: view

No data available for Pathways by source for KHDRBS2 Gene

Compounds for KHDRBS2 Gene

(1) Novoseek inferred chemical compound relationships for KHDRBS2 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 21.6 1
genes like me logo Genes that share compounds with KHDRBS2: view

Transcripts for KHDRBS2 Gene

mRNA/cDNA for KHDRBS2 Gene

(8) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KHDRBS2 Gene

KH domain containing, RNA binding, signal transduction associated 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS2 Gene

No ASD Table

Relevant External Links for KHDRBS2 Gene

GeneLoc Exon Structure for
KHDRBS2
ECgene alternative splicing isoforms for
KHDRBS2

Expression for KHDRBS2 Gene

mRNA expression in normal human tissues for KHDRBS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KHDRBS2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (7.0), Brain - Frontal Cortex (BA9) (4.8), Brain - Anterior cingulate cortex (BA24) (4.7), Brain - Putamen (basal ganglia) (4.6), Brain - Caudate (basal ganglia) (4.4), and Brain - Hypothalamus (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KHDRBS2 Gene

SOURCE GeneReport for Unigene cluster for KHDRBS2 Gene Hs.519794

mRNA Expression by UniProt/SwissProt for KHDRBS2 Gene

Q5VWX1-KHDR2_HUMAN
Tissue specificity: Highly expressed in brain, lung, kidney and small intestine. Weakly expressed in placenta, liver, spleen, thymus, ovary and colon.
genes like me logo Genes that share expressions with KHDRBS2: view

Orthologs for KHDRBS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KHDRBS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS2 36
  • 99.43 (n)
  • 100 (a)
KHDRBS2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KHDRBS2 36
  • 89.56 (n)
  • 92.82 (a)
KHDRBS2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHDRBS2 36
  • 95.8 (n)
  • 98.28 (a)
KHDRBS2 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Khdrbs2 36
  • 91.21 (n)
  • 95.42 (a)
Khdrbs2 16
Khdrbs2 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KHDRBS2 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 92 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
-- 37
  • 43 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Khdrbs2 36
  • 89.97 (n)
  • 95.42 (a)
chicken
(Gallus gallus)
Aves KHDRBS2 36
  • 83.81 (n)
  • 91.38 (a)
KHDRBS2 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHDRBS2 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs2 36
  • 72.66 (n)
  • 75.36 (a)
zebrafish
(Danio rerio)
Actinopterygii khdrbs2 36
  • 70.43 (n)
  • 73.33 (a)
khdrbs2 37
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10384 37
  • 21 (a)
ManyToMany
CG3927 37
  • 33 (a)
ManyToMany
CG4021 37
  • 32 (a)
ManyToMany
nsr 37
  • 29 (a)
ManyToMany
qkr54B 37
  • 30 (a)
ManyToMany
qkr58E-1 37
  • 31 (a)
ManyToMany
qkr58E-2 37
  • 28 (a)
ManyToMany
qkr58E-3 37
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea B0280.17 37
  • 20 (a)
ManyToMany
F54D1.1 37
  • 22 (a)
ManyToMany
K07H8.9 37
  • 25 (a)
ManyToMany
Y57G11C.36 37
  • 24 (a)
ManyToMany
Y69A2AR.32 37
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 37
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 37
  • 35 (a)
OneToMany
Species with no ortholog for KHDRBS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KHDRBS2 Gene

ENSEMBL:
Gene Tree for KHDRBS2 (if available)
TreeFam:
Gene Tree for KHDRBS2 (if available)

Paralogs for KHDRBS2 Gene

Paralogs for KHDRBS2 Gene

Selected SIMAP similar genes for KHDRBS2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KHDRBS2: view

Variants for KHDRBS2 Gene

Sequence variations from dbSNP and Humsavar for KHDRBS2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs169662 -- 62,161,118(-) caaca(C/T)ggatg intron-variant
rs176600 -- 62,250,121(+) AGTCA(A/G)TCCTA intron-variant
rs176601 -- 62,249,615(-) AGTTA(A/G)TTTTT intron-variant
rs176602 -- 62,248,291(-) TTTTT(A/T)AAAAT intron-variant
rs176603 -- 62,247,980(+) TAGTC(G/T)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KHDRBS2 Gene

Variant ID Type Subtype PubMed ID
nsv520179 CNV Gain+Loss 19592680
dgv755n27 CNV Gain 19166990
esv21623 CNV Gain+Loss 19812545
nsv823704 CNV Loss 20364138
esv2664902 CNV Deletion 23128226
nsv482926 CNV Loss 15286789
esv2732185 CNV Deletion 23290073
esv2732186 CNV Deletion 23290073
esv2670697 CNV Deletion 23128226
nsv462966 CNV Gain 19166990
esv2732187 CNV Deletion 23290073
esv2732188 CNV Deletion 23290073
esv1332559 CNV Deletion 17803354
esv2732189 CNV Deletion 23290073
dgv1056e201 CNV Deletion 23290073
esv1257101 CNV Deletion 17803354
esv2071676 CNV Deletion 18987734
esv2732192 CNV Deletion 23290073
esv2667072 CNV Deletion 23128226
esv2670897 CNV Deletion 23128226
esv2672959 CNV Deletion 23128226
esv33001 CNV Loss 17666407
nsv442002 CNV CNV 18776908
nsv514363 CNV Loss 21397061

Relevant External Links for KHDRBS2 Gene

HapMap Linkage Disequilibrium report
KHDRBS2

Disorders for KHDRBS2 Gene

Relevant External Links for KHDRBS2

Genetic Association Database (GAD)
KHDRBS2
genes like me logo Genes that share disorders with KHDRBS2: view

No data available for UniProtKB/Swiss-Prot for KHDRBS2 Gene

Publications for KHDRBS2 Gene

  1. Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2. (PMID: 12549823) Wang L. … Mao Y. (Mol. Biol. Rep. 2002) 3 4 23
  2. Characterization of Sam68-like mammalian proteins SLM-1 and SLM-2: SLM-1 is a Src substrate during mitosis. (PMID: 10077576) Di Fruscio M. … Richard S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 23
  3. Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. (PMID: 12529443) Cote J. … Richard S. (Mol. Biol. Cell 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3 49

Products for KHDRBS2 Gene

Sources for KHDRBS2 Gene

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