Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GIF Gene

Aliases for GIF Gene

  • Gastric Intrinsic Factor 2 3 5
  • Gastric Intrinsic Factor (Vitamin B Synthesis) 2 3
  • Intrinsic Factor 3 4
  • IFMH 3 4
  • INF 3 4
  • IF 3 4
  • TCN3 3

External Ids for GIF Gene

Previous GeneCards Identifiers for GIF Gene

  • GC11M061990
  • GC11M061110
  • GC11M059372
  • GC11M059353
  • GC11M059596
  • GC11M055944

Summaries for GIF Gene

Entrez Gene Summary for GIF Gene

  • This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for GIF Gene

GIF (Gastric Intrinsic Factor) is a Protein Coding gene. Diseases associated with GIF include Intrinsic Factor Deficiency and Congenital Intrinsic Factor Deficiency. Among its related pathways are Diseases of metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include cobalamin binding. An important paralog of this gene is TCN1.

UniProtKB/Swiss-Prot for GIF Gene

  • Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.

Gene Wiki entry for GIF Gene

Additional gene information for GIF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIF Gene

Genomics for GIF Gene

GeneHancer (GH) Regulatory Elements for GIF Gene

Promoters and enhancers for GIF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I059845 Promoter 0.5 EPDnew 550.8 +0.0 18 0.1 GIF MRPL16 GC11P059703
GH11I059846 Enhancer 0.2 ENCODE 550.8 -0.1 -146 0.2 GIF TCN1 GC11P059703
GH11I059919 Enhancer 0.9 Ensembl ENCODE 11.4 -73.7 -73664 0.4 CTCF ZNF384 RAD21 RFX5 CHAMP1 FOSL1 CC2D1A ARID2 ZNF143 SMC3 TCN1 GIF OOSP2 MS4A2 OOSP1 SRD5A3P1
GH11I059891 Enhancer 0.7 ENCODE 10.7 -46.2 -46248 0.5 HDAC1 ATF1 BACH1 NFE2 ATF7 CREM SMARCE1 MTA2 NRF1 DPF2 TCN1 GIF MS4A2 SRD5A3P1
GH11I059806 Enhancer 0.5 dbSUPER 9.8 +38.1 38145 1.3 SMAD5 POLR2A HNF4A THRB GABPA SUPT5H GIF STX3 GC11P059803 MRPL16 GC11P059703
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GIF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GIF gene promoter:

Genomic Locations for GIF Gene

Genomic Locations for GIF Gene
chr11:59,829,268-59,845,537
(GRCh38/hg38)
Size:
16,270 bases
Orientation:
Minus strand
chr11:59,596,741-59,612,974
(GRCh37/hg19)

Genomic View for GIF Gene

Genes around GIF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIF Gene

Proteins for GIF Gene

  • Protein details for GIF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27352-IF_HUMAN
    Recommended name:
    Gastric intrinsic factor
    Protein Accession:
    P27352
    Secondary Accessions:
    • B2RAN8
    • B4DVZ1

    Protein attributes for GIF Gene

    Size:
    417 amino acids
    Molecular mass:
    45416 Da
    Quaternary structure:
    • Interacts with CUBN (via CUB domains).

    Three dimensional structures from OCA and Proteopedia for GIF Gene

    Alternative splice isoforms for GIF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GIF Gene

Post-translational modifications for GIF Gene

  • Glycosylation at posLast=311311, posLast=330330, isoforms=2334, and isoforms=2413

Other Protein References for GIF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GIF Gene

Domains & Families for GIF Gene

Gene Families for GIF Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for GIF Gene

Suggested Antigen Peptide Sequences for GIF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P27352

UniProtKB/Swiss-Prot:

IF_HUMAN :
  • Belongs to the eukaryotic cobalamin transport proteins family.
Family:
  • Belongs to the eukaryotic cobalamin transport proteins family.
genes like me logo Genes that share domains with GIF: view

Function for GIF Gene

Molecular function for GIF Gene

GENATLAS Biochemistry:
gastric intrinsic factor
UniProtKB/Swiss-Prot Function:
Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.

Gene Ontology (GO) - Molecular Function for GIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031419 cobalamin binding IDA 14695536
genes like me logo Genes that share ontologies with GIF: view
genes like me logo Genes that share phenotypes with GIF: view

Human Phenotype Ontology for GIF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GIF Gene

MGI Knock Outs for GIF:
  • Gif tm1a(KOMP)Wtsi

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for GIF Gene

Localization for GIF Gene

Subcellular locations from UniProtKB/Swiss-Prot for GIF Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GIF gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
cytosol 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 14695536
GO:0005768 endosome TAS --
GO:0005902 microvillus IDA 8886952
GO:0016324 apical plasma membrane IDA 8886952
genes like me logo Genes that share ontologies with GIF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GIF Gene

Pathways & Interactions for GIF Gene

genes like me logo Genes that share pathways with GIF: view

Gene Ontology (GO) - Biological Process for GIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006824 cobalt ion transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IMP 15738392
genes like me logo Genes that share ontologies with GIF: view

No data available for SIGNOR curated interactions for GIF Gene

Drugs & Compounds for GIF Gene

(6) Drugs for GIF Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyanocobalamin Approved Nutra Transporter, substrate 337
Cobalamin Nutra 337
arginine Nutra 479
glutamine Nutra 173
Cobalt Pharma 174
genes like me logo Genes that share compounds with GIF: view

Transcripts for GIF Gene

Unigene Clusters for GIF Gene

Gastric intrinsic factor (vitamin B synthesis):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GIF Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - - -
SP2:
SP3:
SP4:

Relevant External Links for GIF Gene

GeneLoc Exon Structure for
GIF
ECgene alternative splicing isoforms for
GIF

Expression for GIF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GIF Gene

mRNA differential expression in normal tissues according to GTEx for GIF Gene

This gene is overexpressed in Stomach (x52.8).

Protein differential expression in normal tissues from HIPED for GIF Gene

This gene is overexpressed in Pancreatic juice (50.4) and Stomach (17.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GIF Gene



Protein tissue co-expression partners for GIF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GIF Gene:

GIF

SOURCE GeneReport for Unigene cluster for GIF Gene:

Hs.110014

mRNA Expression by UniProt/SwissProt for GIF Gene:

P27352-IF_HUMAN
Tissue specificity: Gastric mucosa.

Evidence on tissue expression from TISSUES for GIF Gene

  • Stomach(4.9)
  • Intestine(4.5)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GIF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Limb:
  • femur
  • lower limb
  • thigh
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GIF: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GIF Gene

Orthologs for GIF Gene

This gene was present in the common ancestor of chordates.

Orthologs for GIF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GIF 33 34
  • 99.52 (n)
mouse
(Mus musculus)
Mammalia Gif 33 16 34
  • 83.29 (n)
cow
(Bos Taurus)
Mammalia GIF 33 34
  • 82.65 (n)
rat
(Rattus norvegicus)
Mammalia Gif 33
  • 82.49 (n)
dog
(Canis familiaris)
Mammalia GIF 33 34
  • 79.14 (n)
oppossum
(Monodelphis domestica)
Mammalia GIF 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GIF 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves GIF 33 34
  • 49.7 (n)
lizard
(Anolis carolinensis)
Reptilia GIF 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gif 33
  • 50.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for GIF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GIF Gene

ENSEMBL:
Gene Tree for GIF (if available)
TreeFam:
Gene Tree for GIF (if available)

Paralogs for GIF Gene

Paralogs for GIF Gene

(1) SIMAP similar genes for GIF Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GIF: view

Variants for GIF Gene

Sequence variations from dbSNP and Humsavar for GIF Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs115964827 uncertain-significance, Intrinsic factor deficiency 59,843,888(-) C/T coding_sequence_variant, missense_variant
rs121434322 pathogenic, Intrinsic factor deficiency, Hereditary intrinsic factor deficiency (IFD) [MIM:261000] 59,843,998(-) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs139444835 uncertain-significance, Intrinsic factor deficiency 59,843,917(-) T/C coding_sequence_variant, missense_variant
rs144916324 uncertain-significance, Intrinsic factor deficiency 59,843,981(-) A/T coding_sequence_variant, missense_variant
rs146396839 uncertain-significance, Intrinsic factor deficiency 59,845,372(-) C/G/T intron_variant

Variation tolerance for GIF Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GIF Gene

Human Gene Mutation Database (HGMD)
GIF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GIF Gene

Disorders for GIF Gene

MalaCards: The human disease database

(20) MalaCards diseases for GIF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intrinsic factor deficiency
  • ifd
congenital intrinsic factor deficiency
  • hereditary intrinsic factor deficiency
pernicious anemia
  • addison's anaemia
megaloblastic anemia
  • grasbeck-imerslund syndrome
vitamin metabolic disorder
- elite association - COSMIC cancer census association via MalaCards
Search GIF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IF_HUMAN
  • Hereditary intrinsic factor deficiency (IFD) [MIM:261000]: Autosomal recessive disorder characterized by megaloblastic anemia. {ECO:0000269 PubMed:15738392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GIF Gene

pernicious anemia,congenital

Additional Disease Information for GIF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GIF: view

Publications for GIF Gene

  1. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. (PMID: 14695536) Gordon MM … Alpers DH (Human mutation 2004) 3 4 22 44 58
  2. Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. (PMID: 20237569) Andersen CB … Andersen GR (Nature 2010) 3 4 22 58
  3. Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution. (PMID: 17954916) Mathews FS … Sukumar N (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
  4. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (PMID: 15738392) Tanner SM … de la Chapelle A (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
  5. Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. (PMID: 2071148) Hewitt JE … Alpers DH (Genomics 1991) 2 3 4 58

Products for GIF Gene

Sources for GIF Gene

Content
Loading form....