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ITFG2 integrin alpha FG-GAP repeat containing 2 [ Homo sapiens (human) ]

Gene ID: 55846, updated on 24-Nov-2020

Summary

Official Symbol
ITFG2provided by HGNC
Official Full Name
integrin alpha FG-GAP repeat containing 2provided by HGNC
Primary source
HGNC:HGNC:30879
See related
Ensembl:ENSG00000111203 MIM:617421
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
FGGAP1; MDS028
Expression
Ubiquitous expression in thyroid (RPKM 9.5), ovary (RPKM 9.0) and 25 other tissues See more
Orthologs

Genomic context

See ITFG2 in Genome Data Viewer
Location:
12p13.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (2812644..2859907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (2921716..2934237)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ITFG2 antisense RNA 1 Neighboring gene chromobox 3 pseudogene 4 Neighboring gene FKBP prolyl isomerase 4 Neighboring gene nuclear receptor interacting protein 2 Neighboring gene testis expressed 52 Neighboring gene forkhead box M1 Neighboring gene RAD9-HUS1-RAD1 interacting nuclear orphan 1 Neighboring gene TUB like protein 3

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to glucose starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
germinal center B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
KICSTOR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
KICSTOR complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
KICSTOR complex protein ITFG2
Names
FG-GAP repeat containing 1
integrin-alpha FG-GAP repeat-containing 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_018463.4NP_060933.3  KICSTOR complex protein ITFG2

    See identical proteins and their annotated locations for NP_060933.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AC005841, BC013399, BQ003916, BQ058412
    Consensus CDS
    CCDS8513.1
    UniProtKB/Swiss-Prot
    Q969R8
    UniProtKB/TrEMBL
    A0A0S2Z5P1
    Related
    ENSP00000228799.2, ENST00000228799.7
    Conserved Domains (2) summary
    pfam15907
    Location:49386
    Itfg2; Integrin-alpha FG-GAP repeat-containing protein 2
    cl24051
    Location:2253
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

RNA

  1. NR_130744.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in an internal exon and an alternate 3' terminal sequence, compared to variant 1. This variant is represented as non-coding because the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC005841, AK027483, AK300905, BQ058412
  2. NR_147202.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC005841, AW151238
    Related
    ENST00000645513.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    2812644..2859907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253707.5XP_005253764.1  KICSTOR complex protein ITFG2 isoform X1

    UniProtKB/TrEMBL
    A0A0S2Z5G6
    Conserved Domains (2) summary
    pfam15907
    Location:49386
    Itfg2; Integrin-alpha FG-GAP repeat-containing protein 2
    cl24051
    Location:2154
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  2. XM_005253709.4XP_005253766.1  KICSTOR complex protein ITFG2 isoform X3

    Conserved Domains (1) summary
    cl24051
    Location:1209
    BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
  3. XM_024449057.1XP_024304825.1  KICSTOR complex protein ITFG2 isoform X2

    Conserved Domains (1) summary
    pfam15907
    Location:22274
    Itfg2; Integrin-alpha FG-GAP repeat-containing protein 2
  4. XM_017019641.1XP_016875130.1  KICSTOR complex protein ITFG2 isoform X4

RNA

  1. XR_002957360.1 RNA Sequence

  2. XR_002957357.1 RNA Sequence

  3. XR_002957358.1 RNA Sequence

  4. XR_002957359.1 RNA Sequence

  5. XR_002957353.1 RNA Sequence

  6. XR_002957351.1 RNA Sequence

  7. XR_002957352.1 RNA Sequence

    Related
    ENST00000644517.1
  8. XR_002957354.1 RNA Sequence

  9. XR_002957355.1 RNA Sequence

  10. XR_002957356.1 RNA Sequence

  11. XR_001748810.2 RNA Sequence

  12. XR_001748811.2 RNA Sequence

  13. XR_001748812.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_038933.1: Suppressed sequence

    Description
    NR_038933.1: This RefSeq was removed because it is now thought that this transcript is partial.
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