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SMAP2 small ArfGAP2 [ Homo sapiens (human) ]

Gene ID: 64744, updated on 3-May-2020

Summary

Official Symbol
SMAP2provided by HGNC
Official Full Name
small ArfGAP2provided by HGNC
Primary source
HGNC:HGNC:25082
See related
Ensembl:ENSG00000084070 MIM:616916
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
Also known as
SMAP1L
Expression
Broad expression in lymph node (RPKM 80.3), spleen (RPKM 58.9) and 23 other tissues See more
Orthologs

Genomic context

See SMAP2 in Genome Data Viewer
Location:
1p34.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (40373672..40423326)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40839378..40888998)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 20 Neighboring gene uncharacterized LOC107984945 Neighboring gene ZFP69 zinc finger protein B Neighboring gene uncharacterized LOC105378672 Neighboring gene ZFP69 zinc finger protein

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
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
stromal membrane-associated protein 2
Names
stromal membrane-associated GTPase-activating protein 2

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_001198978.1NP_001185907.1  stromal membrane-associated protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001185907.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AL133206, DC411665
    Consensus CDS
    CCDS55592.1
    UniProtKB/Swiss-Prot
    Q8WU79
    Related
    ENSP00000361793.1, ENST00000372708.5
    Conserved Domains (2) summary
    pfam01412
    Location:496
    ArfGap; Putative GTPase activating protein for Arf
    pfam09606
    Location:247391
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  2. NM_001198979.1NP_001185908.1  stromal membrane-associated protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001185908.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK308280, BC014512, BC021133, BU617889
    Consensus CDS
    CCDS72763.1
    UniProtKB/Swiss-Prot
    Q8WU79
    UniProtKB/TrEMBL
    A0A087WV97
    Related
    ENSP00000479285.1, ENST00000614549.4
    Conserved Domains (2) summary
    pfam01412
    Location:30121
    ArfGap; Putative GTPase activating protein for Arf
    pfam09606
    Location:272412
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  3. NM_001198980.1NP_001185909.1  stromal membrane-associated protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001185909.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK316218, BC014512, BC021133, BU617889
    Consensus CDS
    CCDS55593.1
    UniProtKB/Swiss-Prot
    Q8WU79
    Related
    ENSP00000442835.1, ENST00000539317.2
    Conserved Domains (2) summary
    pfam11593
    Location:195346
    Med3; Mediator complex subunit 3 fungal
    cl27571
    Location:146
    ArfGap; Putative GTPase activating protein for Arf
  4. NM_022733.3NP_073570.1  stromal membrane-associated protein 2 isoform 1

    See identical proteins and their annotated locations for NP_073570.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL133206, BC021133, DA082592
    Consensus CDS
    CCDS451.1
    UniProtKB/Swiss-Prot
    Q8WU79
    Related
    ENSP00000361803.3, ENST00000372718.8
    Conserved Domains (2) summary
    pfam01412
    Location:13126
    ArfGap; Putative GTPase activating protein for Arf
    pfam09606
    Location:277417
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    40373672..40423326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449134.1XP_024304902.1  stromal membrane-associated protein 2 isoform X2

    Conserved Domains (2) summary
    pfam11593
    Location:195346
    Med3; Mediator complex subunit 3 fungal
    cl27571
    Location:146
    ArfGap; Putative GTPase activating protein for Arf
  2. XM_011541960.2XP_011540262.1  stromal membrane-associated protein 2 isoform X1

    Conserved Domains (1) summary
    pfam01412
    Location:8101
    ArfGap; Putative GTPase activating protein for Arf
  3. XM_017002093.2XP_016857582.1  stromal membrane-associated protein 2 isoform X3

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