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Aliases for SRGAP2B Gene

Aliases for SRGAP2B Gene

  • SLIT-ROBO Rho GTPase Activating Protein 2B 2 3 5
  • SLIT-ROBO Rho GTPase Activating Protein 2 Pseudogene 2 2 3 4
  • SLIT-ROBO Rho GTPase Activating Protein 2B (Pseudogene) 2 3
  • SRGAP2P2 3 4
  • SLIT-ROBO Rho GTPase-Activating Protein 2B 3
  • SRGAP2L 3

External Ids for SRGAP2B Gene

Previous HGNC Symbols for SRGAP2B Gene

  • SRGAP2P2

Previous GeneCards Identifiers for SRGAP2B Gene

  • GC01P143915

Summaries for SRGAP2B Gene

Entrez Gene Summary for SRGAP2B Gene

  • This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]

GeneCards Summary for SRGAP2B Gene

SRGAP2B (SLIT-ROBO Rho GTPase Activating Protein 2B) is a Protein Coding gene. An important paralog of this gene is SRGAP2C.

UniProtKB/Swiss-Prot for SRGAP2B Gene

  • May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2.

Additional gene information for SRGAP2B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP2B Gene

Genomics for SRGAP2B Gene

GeneHancer (GH) Regulatory Elements for SRGAP2B Gene

Promoters and enhancers for SRGAP2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I145092 Promoter 0.5 Ensembl 550.8 +0.6 627 4.2 FAM72D SRGAP2B
GH01I144997 Enhancer 1.5 Ensembl ENCODE dbSUPER 0.2 +96.0 96006 4.2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF766 PIAS3 NBPF20 POLR3C PFN1P6 GPR89A NUDT17 LOC645166 LIX1L-AS1 GNRHR2 ENSG00000271644
GH01I145015 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 0.2 +77.8 77827 5 HDGF ZBTB21 SIN3A CEBPG PRDM10 ZNF600 ATF7 IKZF2 ZNF362 MTA2 ENSG00000271644 SRGAP2B FAM72D
GH01I144994 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.2 +99.8 99847 2.7 PKNOX1 FEZF1 ZNF48 ZNF213 ZNF548 FOS YY2 ZNF662 REST KAT8 PIAS3 POLR3C NBPF20 NUDT17 PFN1P6 GPR89A LOC645166 LIX1L-AS1 ENSG00000271644 FAM72D
GH01I145128 Enhancer 0.7 Ensembl 0.3 -33.5 -33504 1.1 ATF1 BDP1 CEBPB ZNF407 CEBPG ZBTB40 ZNF592 IRF9 GTF3C2 SKIL PIAS3 GNRHR2 NBPF20 GPR89A LOC105371219 LOC101929805 SRGAP2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SRGAP2B on UCSC Golden Path with GeneCards custom track

Genomic Locations for SRGAP2B Gene

Genomic Locations for SRGAP2B Gene
chr1:144,887,191-145,095,528
(GRCh38/hg38)
Size:
208,338 bases
Orientation:
Minus strand
chr1:143,913,615-144,094,477
(GRCh37/hg19)

Genomic View for SRGAP2B Gene

Genes around SRGAP2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP2B Gene

Proteins for SRGAP2B Gene

  • Protein details for SRGAP2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DMP2-SRG2B_HUMAN
    Recommended name:
    SLIT-ROBO Rho GTPase-activating protein 2B
    Protein Accession:
    P0DMP2

    Protein attributes for SRGAP2B Gene

    Size:
    458 amino acids
    Molecular mass:
    53406 Da
    Quaternary structure:
    • Homodimer. Interacts with SRGAP2; formation of the heterodimer alters SRGAP2 function (By similarity).
    Miscellaneous:
    • This is one of the 3 duplications of the ancestral gene SRGAP2 which has undergone human-specific segmental gene duplications. The appearance of SRGAP2B in the human genome is estimated to 3,4 million years. Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D). SRGAP2B was identified in some individuals but it is not clear if it produces a functional protein (PubMed:22559944).

neXtProt entry for SRGAP2B Gene

Post-translational modifications for SRGAP2B Gene

No Post-translational modifications

No data available for DME Specific Peptides for SRGAP2B Gene

Domains & Families for SRGAP2B Gene

Gene Families for SRGAP2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SRGAP2B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SRGAP2B: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SRGAP2B Gene

Function for SRGAP2B Gene

Molecular function for SRGAP2B Gene

UniProtKB/Swiss-Prot Function:
May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2.

Gene Ontology (GO) - Molecular Function for SRGAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0048365 Rac GTPase binding IBA --
genes like me logo Genes that share ontologies with SRGAP2B: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SRGAP2B Gene

Localization for SRGAP2B Gene

Gene Ontology (GO) - Cellular Components for SRGAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with SRGAP2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for SRGAP2B Gene

Pathways & Interactions for SRGAP2B Gene

SuperPathways for SRGAP2B Gene

No Data Available

Interacting Proteins for SRGAP2B Gene

Gene Ontology (GO) - Biological Process for SRGAP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development IEA --
GO:0030336 negative regulation of cell migration IBA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SRGAP2B: view

No data available for Pathways by source and SIGNOR curated interactions for SRGAP2B Gene

Drugs & Compounds for SRGAP2B Gene

No Compound Related Data Available

Transcripts for SRGAP2B Gene

mRNA/cDNA for SRGAP2B Gene

(12) REFSEQ mRNAs :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP2B Gene

No ASD Table

Relevant External Links for SRGAP2B Gene

GeneLoc Exon Structure for
SRGAP2B
ECgene alternative splicing isoforms for
SRGAP2B

Expression for SRGAP2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SRGAP2B Gene

mRNA differential expression in normal tissues according to GTEx for SRGAP2B Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.4) and Brain - Cerebellum (x4.9).

Protein differential expression in normal tissues from HIPED for SRGAP2B Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SRGAP2B Gene



Protein tissue co-expression partners for SRGAP2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SRGAP2B Gene:

SRGAP2B
genes like me logo Genes that share expression patterns with SRGAP2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRGAP2B Gene

Orthologs for SRGAP2B Gene

Evolution for SRGAP2B Gene

ENSEMBL:
Gene Tree for SRGAP2B (if available)
TreeFam:
Gene Tree for SRGAP2B (if available)

No data available for Orthologs for SRGAP2B Gene

Paralogs for SRGAP2B Gene

genes like me logo Genes that share paralogs with SRGAP2B: view

Variants for SRGAP2B Gene

Sequence variations from dbSNP and Humsavar for SRGAP2B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000594 -- 145,060,130(-) A/T genic_upstream_transcript_variant, intron_variant
rs1003350 -- 145,058,288(-) C/T genic_upstream_transcript_variant, intron_variant
rs10127826 -- 145,031,191(-) G/A genic_upstream_transcript_variant, intron_variant
rs10158906 -- 144,959,963(-) C/T genic_upstream_transcript_variant, intron_variant
rs10159125 -- 145,075,641(-) A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SRGAP2B Gene

Variant ID Type Subtype PubMed ID
dgv312n100 CNV gain 25217958
dgv40e214 CNV gain 21293372
esv2516798 CNV gain 19546169
esv2761652 CNV gain 21179565
esv2762186 CNV loss 21179565
esv2830457 CNV duplication 24192839
esv3280050 CNV duplication 24192839
esv3291161 CNV duplication 24192839
esv8055 CNV gain 19470904
nsv1002247 CNV gain+loss 25217958
nsv1003232 CNV gain+loss 25217958
nsv1003402 CNV loss 25217958
nsv1004786 CNV loss 25217958
nsv1010171 CNV gain 25217958
nsv1010181 CNV gain+loss 25217958
nsv1015024 CNV gain 25217958
nsv1075381 CNV duplication 25765185
nsv1118446 CNV duplication 24896259
nsv1118447 CNV duplication 24896259
nsv1128611 CNV duplication 24896259
nsv1136032 CNV deletion 24896259
nsv1139496 CNV duplication 24896259
nsv547651 CNV loss 21841781
nsv7936 CNV loss 18304495
nsv7947 CNV loss 18304495
nsv946222 CNV duplication 23825009
nsv950869 CNV duplication 24416366
nsv954172 CNV deletion 24416366

Additional Variant Information for SRGAP2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRGAP2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SRGAP2B Gene

Disorders for SRGAP2B Gene

Additional Disease Information for SRGAP2B

No disorders were found for SRGAP2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SRGAP2B Gene

Publications for SRGAP2B Gene

  1. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. (PMID: 22559943) Dennis MY … Eichler EE (Cell 2012) 2 3 4 58
  2. Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. (PMID: 22559944) Charrier C … Polleux F (Cell 2012) 2 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for SRGAP2B Gene

Sources for SRGAP2B Gene

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