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SRGAP2D SLIT-ROBO Rho GTPase activating protein 2D (pseudogene) [ Homo sapiens (human) ]

Gene ID: 100996712, updated on 10-Oct-2023

Summary

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Official Symbol
SRGAP2Dprovided by HGNC
Official Full Name
SLIT-ROBO Rho GTPase activating protein 2D (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:43932
See related
MIM:614705; AllianceGenome:HGNC:43932
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 16.7), spleen (RPKM 15.7) and 24 other tissues See more
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Genomic context

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Location:
1q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (143972639..144069704)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (143044660..143141702)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 (PATCHES) NW_003871055.3 (788052..885117)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H2B histone pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:149398885-149399385 Neighboring gene uncharacterized LOC105371209 Neighboring gene H3.7 histone (putative) Neighboring gene ribosomal protein L22 pseudogene 5 Neighboring gene family with sequence similarity 72 member C Neighboring gene immunoglobulin kappa variable 1/OR1-1 (pseudogene) Neighboring gene uncharacterized LOC105371207

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Dennis MY, et al. Cell, 2012 May 11. PMID 22559943, Free PMC Article
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Other Names

  • SLIT-ROBO Rho GTPase-activating protein 2D

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_120535.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC246680, DB047919, HY032968

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    143972639..144069704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    143044660..143141702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001271887.1: Suppressed sequence

    Description
    NM_001271887.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
Nucleotide Protein
Heading Accession and Version

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