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ARHGEF38 Rho guanine nucleotide exchange factor 38 [ Homo sapiens (human) ]

Gene ID: 54848, updated on 1-Aug-2020

Summary

Official Symbol
ARHGEF38provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 38provided by HGNC
Primary source
HGNC:HGNC:25968
See related
Ensembl:ENSG00000236699
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in prostate (RPKM 3.4), colon (RPKM 1.7) and 11 other tissues See more
Orthologs

Genomic context

See ARHGEF38 in Genome Data Viewer
Location:
4q24
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (105552604..105682539)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106473704..106602070)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377352 Neighboring gene ATP synthase F1 subunit epsilon pseudogene 1 Neighboring gene ARHGEF38 intronic transcript 1 Neighboring gene integrator complex subunit 12 Neighboring gene glutathione S-transferase C-terminal domain containing Neighboring gene uncharacterized LOC107986190

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20184, FLJ43963

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 38
Names
Rho guanine nucleotide exchange factor (GEF) 38

NCBI Reference Sequences (RefSeq)

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_001242729.2NP_001229658.1  rho guanine nucleotide exchange factor 38 isoform 1

    See identical proteins and their annotated locations for NP_001229658.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC105391, AK000191, AK125951, DT932593
    Consensus CDS
    CCDS56338.1
    UniProtKB/Swiss-Prot
    Q9NXL2
    Related
    ENSP00000416125.2, ENST00000420470.3
    Conserved Domains (4) summary
    cd07589
    Location:336522
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd12141
    Location:717773
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    pfam00621
    Location:98284
    RhoGEF; RhoGEF domain
    cl17036
    Location:586642
    SH3; Src Homology 3 domain superfamily
  2. NM_017700.1NP_060170.1  rho guanine nucleotide exchange factor 38 isoform 2

    See identical proteins and their annotated locations for NP_060170.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents an alternate 3' splice pattern with a shorter coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK000191
    Consensus CDS
    CCDS3670.1
    UniProtKB/Swiss-Prot
    Q9NXL2
    Related
    ENSP00000265154.2, ENST00000265154.6
    Conserved Domains (1) summary
    cl02571
    Location:98194
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    105552604..105682539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532051.2XP_011530353.1  rho guanine nucleotide exchange factor 38 isoform X3

    Conserved Domains (2) summary
    pfam00621
    Location:98284
    RhoGEF; RhoGEF domain
    cl12013
    Location:336419
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_011532050.2XP_011530352.1  rho guanine nucleotide exchange factor 38 isoform X1

    Conserved Domains (4) summary
    cd07589
    Location:171357
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd12141
    Location:552608
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    cl02571
    Location:4119
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cl17036
    Location:421477
    SH3; Src Homology 3 domain superfamily
  3. XM_006714244.3XP_006714307.1  rho guanine nucleotide exchange factor 38 isoform X2

    Conserved Domains (4) summary
    cd07589
    Location:118304
    BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
    cd12141
    Location:499555
    SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
    cl02571
    Location:166
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cl17036
    Location:368424
    SH3; Src Homology 3 domain superfamily

RNA

  1. XR_938751.3 RNA Sequence

  2. XR_938749.3 RNA Sequence

  3. XR_938750.3 RNA Sequence

  4. XR_938748.3 RNA Sequence

  5. XR_427548.4 RNA Sequence

  6. XR_001741247.2 RNA Sequence

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