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Aliases for KHDRBS2 Gene

Aliases for KHDRBS2 Gene

  • KH Domain Containing, RNA Binding, Signal Transduction Associated 2 2 3 5
  • Sam68-Like Mammalian Protein 1 2 3 4
  • SLM-1 3 4
  • SLM1 3 4
  • HSLM-1 4

External Ids for KHDRBS2 Gene

Previous GeneCards Identifiers for KHDRBS2 Gene

  • GC00U991173
  • GC06M062386
  • GC06M062447
  • GC06M059556

Summaries for KHDRBS2 Gene

GeneCards Summary for KHDRBS2 Gene

KHDRBS2 (KH Domain Containing, RNA Binding, Signal Transduction Associated 2) is a Protein Coding gene. Among its related pathways are Signaling by PTK6 and Signaling by GPCR. GO annotations related to this gene include nucleic acid binding and protein heterodimerization activity. 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

Regulatory Elements for KHDRBS2 Gene

Enhancers for KHDRBS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KHDRBS2 on UCSC Golden Path with GeneCards custom track

Promoters for KHDRBS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KHDRBS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KHDRBS2 Gene

Chromosome:
6
Start:
61,630,484 bp from pter
End:
62,286,227 bp from pter
Size:
655,744 bases
Orientation:
Minus strand

Genomic View for KHDRBS2 Gene

Genes around KHDRBS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDRBS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDRBS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 & Families for KHDRBS2 Gene

Protein Domains for KHDRBS2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KHDRBS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VWX1

UniProtKB/Swiss-Prot:

KHDR2_HUMAN :
  • Contains 1 KH domain.
  • Belongs to the KHDRBS family.
Domain:
  • Contains 1 KH domain.
Family:
  • Belongs to the KHDRBS family.
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:0003723 RNA binding IEA --
GO:0005515 protein binding IEA,IPI 16189514
GO:0008143 poly(A) binding IEA --
GO:0017124 SH3 domain binding IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with KHDRBS2: view
genes like me logo Genes that share phenotypes with KHDRBS2: view

Animal Models for KHDRBS2 Gene

MGI Knock Outs for KHDRBS2:

Animal Model Products

CRISPR Products

miRNA for KHDRBS2 Gene

miRTarBase miRNAs that target KHDRBS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
nucleus 4
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for KHDRBS2 Gene

Pathways & Interactions for KHDRBS2 Gene

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

Pathways by source for KHDRBS2 Gene

Gene Ontology (GO) - Biological Process for KHDRBS2 Gene

None

No data available for SIGNOR curated interactions for KHDRBS2 Gene

Drugs & Compounds for KHDRBS2 Gene

(1) Drugs for KHDRBS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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) (x7.0), Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.7), Brain - Putamen (basal ganglia) (x4.6), Brain - Caudate (basal ganglia) (x4.4), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for KHDRBS2 Gene

This gene is overexpressed in Fetal Brain (38.7), Retina (11.0), and Fetal gut (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KHDRBS2: view

Protein tissue co-expression partners for KHDRBS2 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia KHDRBS2 35
  • 89.56 (n)
  • 92.82 (a)
KHDRBS2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KHDRBS2 35
  • 95.8 (n)
  • 98.28 (a)
KHDRBS2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Khdrbs2 35
  • 91.21 (n)
  • 95.42 (a)
Khdrbs2 16
Khdrbs2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS2 35
  • 99.43 (n)
  • 100 (a)
KHDRBS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Khdrbs2 35
  • 89.97 (n)
  • 95.42 (a)
oppossum
(Monodelphis domestica)
Mammalia KHDRBS2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves KHDRBS2 35
  • 83.81 (n)
  • 91.38 (a)
KHDRBS2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHDRBS2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs2 35
  • 72.66 (n)
  • 75.36 (a)
zebrafish
(Danio rerio)
Actinopterygii khdrbs2 35
  • 70.43 (n)
  • 73.33 (a)
khdrbs2 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10384 36
  • 21 (a)
ManyToMany
CG3927 36
  • 33 (a)
ManyToMany
CG4021 36
  • 32 (a)
ManyToMany
nsr 36
  • 29 (a)
ManyToMany
qkr54B 36
  • 30 (a)
ManyToMany
qkr58E-1 36
  • 31 (a)
ManyToMany
qkr58E-2 36
  • 28 (a)
ManyToMany
qkr58E-3 36
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea B0280.17 36
  • 20 (a)
ManyToMany
F54D1.1 36
  • 22 (a)
ManyToMany
K07H8.9 36
  • 25 (a)
ManyToMany
Y57G11C.36 36
  • 24 (a)
ManyToMany
Y69A2AR.32 36
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 36
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 36
  • 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

(3) 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
rs7449840 - 61,697,224(+) TTACT(C/G)CATGA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1010258 -- 62,166,680(+) AAGTT(G/T)ATATC intron-variant
rs1021830 -- 61,948,863(+) TAGTG(C/T)TGATG intron-variant
rs1024187 -- 61,705,695(+) GCTCC(C/T)CTCTA intron-variant
rs1033537 -- 61,650,685(+) TTGAA(A/T)ATCAT 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

Variation tolerance for KHDRBS2 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.40% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for KHDRBS2 Gene

Disorders for KHDRBS2 Gene

Relevant External Links for KHDRBS2

Genetic Association Database (GAD)
KHDRBS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KHDRBS2

No disorders were found for KHDRBS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  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. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3

Products for KHDRBS2 Gene

Sources for KHDRBS2 Gene

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