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Aliases for SRGAP2D Gene

Aliases for SRGAP2D Gene

  • SLIT-ROBO Rho GTPase Activating Protein 2D (Pseudogene) 2 3 5
  • SLIT-ROBO Rho GTPase Activating Protein 2D 2

External Ids for SRGAP2D Gene

Previous GeneCards Identifiers for SRGAP2D Gene

  • GC01U903446

Summaries for SRGAP2D Gene

Entrez Gene Summary for SRGAP2D Gene

  • This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. This duplicated locus lacks an internal exon, and thus this gene copy may not be functional. 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, May 2014]

GeneCards Summary for SRGAP2D Gene

SRGAP2D (SLIT-ROBO Rho GTPase Activating Protein 2D (Pseudogene)) is a Pseudogene.

Additional gene information for SRGAP2D Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRGAP2D Gene

Genomics for SRGAP2D Gene

GeneHancer (GH) Regulatory Elements for SRGAP2D Gene

Promoters and enhancers for SRGAP2D 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
GH01I143971 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.5 462 4.2 HDGF PKNOX1 ATF1 SIN3A GLIS2 ZNF143 ATF7 FOS SP3 NFYC FAM72C SRGAP2D
GH01I143988 Enhancer 0.8 Ensembl 0.4 +16.9 16862 1.8 PKNOX1 INSM2 KLF17 FEZF1 ZNF2 ZEB1 ZNF366 ZSCAN5C ZNF680 CEBPB FAM72C SRGAP2D GC01P144021
GH01I144009 Enhancer 0.6 Ensembl ENCODE 0.3 +37.3 37261 1 PKNOX1 IKZF1 ATF7 GC01P144021 SRGAP2D FAM72C
GH01I144026 Enhancer 0.9 Ensembl ENCODE 0.2 +53.5 53462 0.2 MEIS2 PKNOX1 ARNT TAL1 TCF12 NCOR1 CBFA2T2 TRIM24 SMARCE1 RFX1 GC01P144021 SRGAP2D IGKV1OR1-1
GH01I143966 Enhancer 0.4 ENCODE 0.4 -6.3 -6310 0.1 PRDM6 SP7 FAM72C SRGAP2D GC01M143949
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SRGAP2D on UCSC Golden Path with GeneCards custom track

Genomic Locations for SRGAP2D Gene

Genomic Locations for SRGAP2D Gene
chr1:143,972,639-144,069,704
(GRCh38/hg38)
Size:
97,066 bases
Orientation:
Plus strand

Genomic View for SRGAP2D Gene

Genes around SRGAP2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRGAP2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRGAP2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRGAP2D Gene

Proteins for SRGAP2D Gene

Post-translational modifications for SRGAP2D Gene

No Post-translational modifications

No data available for DME Specific Peptides for SRGAP2D Gene

Domains & Families for SRGAP2D Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SRGAP2D Gene

Function for SRGAP2D Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SRGAP2D Gene

Localization for SRGAP2D Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for SRGAP2D Gene

Pathways & Interactions for SRGAP2D Gene

SuperPathways for SRGAP2D Gene

No Data Available

Interacting Proteins for SRGAP2D Gene

Gene Ontology (GO) - Biological Process for SRGAP2D Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SRGAP2D Gene

Drugs & Compounds for SRGAP2D Gene

No Compound Related Data Available

Transcripts for SRGAP2D Gene

mRNA/cDNA for SRGAP2D Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SRGAP2D Gene

No ASD Table

Relevant External Links for SRGAP2D Gene

GeneLoc Exon Structure for
SRGAP2D
ECgene alternative splicing isoforms for
SRGAP2D

Expression for SRGAP2D Gene

NURSA nuclear receptor signaling pathways regulating expression of SRGAP2D Gene:

SRGAP2D
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRGAP2D Gene

Orthologs for SRGAP2D Gene

Evolution for SRGAP2D Gene

ENSEMBL:
Gene Tree for SRGAP2D (if available)
TreeFam:
Gene Tree for SRGAP2D (if available)

No data available for Orthologs for SRGAP2D Gene

Paralogs for SRGAP2D Gene

No data available for Paralogs for SRGAP2D Gene

Variants for SRGAP2D Gene

Sequence variations from dbSNP and Humsavar for SRGAP2D Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1740332 -- 143,982,027(+) C/A intron_variant
rs34615396 -- 143,971,282(+) TTTTTTTTT/TTTTTTTTTT upstream_transcript_variant
rs67029739 -- 143,994,936(+) G/GG intron_variant
rs67347952 -- 144,047,394(+) AAAAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAAAA intron_variant
rs71209812 -- 143,975,968(+) T/ intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SRGAP2D Gene

Variant ID Type Subtype PubMed ID
dgv380n100 CNV gain+loss 25217958
dgv381n100 CNV gain 25217958
dgv383n100 CNV loss 25217958
dgv397n100 CNV loss 25217958
esv26241 CNV gain+loss 19812545
esv3268939 CNV duplication 24192839
esv3578140 CNV loss 25503493
esv3894067 CNV gain 25118596
esv3894156 CNV loss 25118596
esv3894189 CNV gain+loss 25118596
nsv10694 CNV gain 18304495
nsv10705 CNV gain 18304495
nsv10717 CNV gain 18304495
nsv10728 CNV loss 18304495
nsv10739 CNV gain 18304495
nsv10750 CNV gain 18304495
nsv1075783 CNV duplication 25765185
nsv10761 CNV gain 18304495
nsv1076325 CNV duplication 25765185
nsv10805 CNV gain 18304495
nsv10816 CNV gain 18304495
nsv1124578 CNV duplication 24896259
nsv1128610 CNV duplication 24896259
nsv1132293 CNV duplication 24896259
nsv1139490 CNV duplication 24896259
nsv1141137 CNV duplication 24896259
nsv1150139 CNV duplication 26484159
nsv1150660 CNV duplication 26484159
nsv7881 CNV loss 18304495
nsv7892 CNV gain 18304495
nsv7903 CNV gain 18304495
nsv7914 CNV gain 18304495
nsv7925 CNV gain 18304495
nsv831237 CNV gain 17160897
nsv945591 CNV duplication 23825009
nsv945592 CNV duplication 23825009
nsv946194 CNV duplication 23825009
nsv946195 CNV duplication 23825009
nsv946220 CNV duplication 23825009
nsv946221 CNV duplication 23825009
nsv946661 CNV duplication 23825009

Additional Variant Information for SRGAP2D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRGAP2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SRGAP2D Gene

Disorders for SRGAP2D Gene

Additional Disease Information for SRGAP2D

No disorders were found for SRGAP2D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SRGAP2D Gene

Publications for SRGAP2D Gene

  1. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. (PMID: 22559943) Dennis MY … Eichler EE (Cell 2012) 2 3 58

Products for SRGAP2D Gene

Sources for SRGAP2D Gene

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