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SRGAP2B SLIT-ROBO Rho GTPase activating protein 2B [ Homo sapiens (human) ]

Gene ID: 647135, updated on 4-Nov-2022

Summary

Official Symbol
SRGAP2Bprovided by HGNC
Official Full Name
SLIT-ROBO Rho GTPase activating protein 2Bprovided by HGNC
Primary source
HGNC:HGNC:35237
See related
Ensembl:ENSG00000196369 MIM:614703; AllianceGenome:HGNC:35237
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SRGAP2L; SRGAP2P2
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 9.5), spleen (RPKM 7.9) and 23 other tissues See more
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Genomic context

See SRGAP2B in Genome Data Viewer
Location:
1q21.1
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (144887288..145095380, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (144012035..144220090, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206100298..206137837, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724269 Neighboring gene immunoglobulin kappa variable 1-39-like Neighboring gene uncharacterized LOC107985595 Neighboring gene Sharpr-MPRA regulatory region 356 duplicate 2 Neighboring gene Sharpr-MPRA regulatory region 15698 duplicate 2 Neighboring gene family with sequence similarity 72 member D Neighboring gene Sharpr-MPRA regulatory region 11936 Neighboring gene tRNA-Asn (anticodon GTT) 10-1 Neighboring gene myomegalin-like

Genomic regions, transcripts, and products

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • WI2-929E21

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
SLIT-ROBO Rho GTPase-activating protein 2B
Names
SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2
SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)

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.

mRNA and Protein(s)

  1. NM_001271870.5NP_001258799.2  SLIT-ROBO Rho GTPase-activating protein 2B isoform 1

    See identical proteins and their annotated locations for NP_001258799.2

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
    Consensus CDS
    CCDS72854.2
    UniProtKB/TrEMBL
    A0A286YEY3
    Related
    ENSP00000493121.1, ENST00000641863.3
    Conserved Domains (1) summary
    cl12013
    Location:26289
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_001330684.2NP_001317613.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
    UniProtKB/TrEMBL
    A0A087WW56
    Conserved Domains (1) summary
    cl12013
    Location:1135
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. NM_001366280.2NP_001353209.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
    Consensus CDS
    CCDS91032.1
    UniProtKB/Swiss-Prot
    P0DMP2
    Related
    ENSP00000477776.1, ENST00000612199.4
    Conserved Domains (1) summary
    cl12013
    Location:26288
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. NM_001368324.2NP_001355253.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
  5. NM_001385226.1NP_001372155.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
    Conserved Domains (1) summary
    cl12013
    Location:26319
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. NM_001385227.1NP_001372156.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
    Conserved Domains (1) summary
    cl12013
    Location:26268
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  7. NM_001385228.1NP_001372157.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC242498, FP700111
    Conserved Domains (1) summary
    cl12013
    Location:52199
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    144887288..145095380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005277421.5XP_005277478.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform X2

    See identical proteins and their annotated locations for XP_005277478.1

    Conserved Domains (1) summary
    cl12013
    Location:1136
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_047428007.1XP_047283963.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform X2

  3. XM_047428008.1XP_047283964.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform X3

  4. XM_005277422.5XP_005277479.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform X2

    See identical proteins and their annotated locations for XP_005277479.1

    Conserved Domains (1) summary
    cl12013
    Location:1136
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. XM_017002087.3XP_016857576.1  SLIT-ROBO Rho GTPase-activating protein 2B isoform X1

    Conserved Domains (1) summary
    cl12013
    Location:26277
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    144012035..144220090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_012336.1: Suppressed sequence

    Description
    NG_012336.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
  2. NR_034178.1: Suppressed sequence

    Description
    NR_034178.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.