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    CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) [ Homo sapiens (human) ]

    Gene ID: 1438, updated on 22-May-2013
    Official Symbol
    CSF2RAprovided by HGNC
    Official Full Name
    colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)provided by HGNC
    Primary source
    HGNC:2435
    See related
    Ensembl:ENSG00000198223; HPRD:02381; MIM:306250; MIM:425000; Vega:OTTHUMG00000012533
    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
    GMR; CD116; CSF2R; SMDP4; CDw116; CSF2RX; CSF2RY; GMCSFR; CSF2RAX; CSF2RAY; GM-CSF-R-alpha
    Summary
    The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
    Location :
    Xp22.32 and Yp11.3
    Sequence :
    Chromosome: Y; NC_000024.9 (1337693..1378828)
    Chromosome: X; NC_000023.10 (1387693..1428828)
    See CSF2RA in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene repetin pseudogene Neighboring gene cytokine receptor-like factor 2 Neighboring gene microRNA 3690 Neighboring gene interleukin 3 receptor, alpha (low affinity) Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6

    Chromosome Y - NC_000024.9Genomic Context describing neighboring genes Neighboring gene repetin pseudogene Neighboring gene cytokine receptor-like factor 2 Neighboring gene microRNA 3690 Neighboring gene interleukin 3 receptor, alpha (low affinity) Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Identification of a novel function of the clathrin-coated structure at the plasma membrane in facilitating GM-CSF receptor-mediated activation of JAK2. Chen PH, et al. Cell Cycle, 2012 Oct 1. PMID 22935703.
    2. Distribution of granulocyte-monocyte colony-stimulating factor and its receptor α-subunit in the adult human brain with specific reference to Alzheimer's disease. Ridwan S, et al. J Neural Transm, 2012 Nov. PMID 22430742.
    3. Defective leukocyte GM-CSF receptor (CD116) expression and function in inflammatory bowel disease. Goldstein JI, et al. Gastroenterology, 2011 Jul. PMID 21557945.
    4. High expression of 67-kDa laminin receptor relates to the proliferation of leukemia cells and increases expression of GM-CSF receptor. Ando K, et al. Exp Hematol, 2011 Feb. PMID 21056082.
    5. The Ig-like domain of human GM-CSF receptor alpha plays a critical role in cytokine binding and receptor activation. Mirza S, et al. Biochem J, 2010 Feb 24. PMID 20078425.

    See all (58) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The GM-CSF Ralpha were ubiquitously but not uniformly expressed in neurons throughout the brain and downregulation in brain in patient with alzheimenr disease.
      Title: Distribution of granulocyte-monocyte colony-stimulating factor and its receptor α-subunit in the adult human brain with specific reference to Alzheimer's disease.
    2. This study reveals a novel functional role of clathrin-coated structure in GMR signaling and the oncogenesis of JAK2V617F.
      Title: Identification of a novel function of the clathrin-coated structure at the plasma membrane in facilitating GM-CSF receptor-mediated activation of JAK2.
    3. Identify defective expression and function of CD116 as a distinguishing feature of IBD and implicate an associated defect in innate immune responses toward granulocyte-macrophage colony-stimulating factor.
      Title: Defective leukocyte GM-CSF receptor (CD116) expression and function in inflammatory bowel disease.
    4. The expression rate of GM-CSFR in myelodysplastic syndrome patients was significantly higher than in aplastic anemia patients and controls.
      Title: [Expression of G-CSF and GM-CSF receptors on CD34 positive cells in aplastic anemia and myelodysplastic syndrome patients and its significance].
    5. 67-kDa laminin receptor expression influenced the characteristics of leukemia cells toward an aggressive phenotype and increased the number of granulocyte-macrophage colony-stimulating factor receptors
      Title: High expression of 67-kDa laminin receptor relates to the proliferation of leukemia cells and increases expression of GM-CSF receptor.
    6. Data show that Deletion of the Ig-like domain of GM-CSFRalpha abolished direct GM-CSF binding and decreased growth signalling in the presence of hbetac.
      Title: The Ig-like domain of human GM-CSF receptor alpha plays a critical role in cytokine binding and receptor activation.
    7. These results establish that GM-CSF signaling is critical for surfactant homeostasis in humans and demonstrate that mutations in CSF2RA cause familial PAP.
      Title: Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
    8. Results suggest that that pulmonary alveolar proteinosis can result from a genetic deficiency of the GM-CSF receptor alpha chain, encoded in the X-chromosome pseudoautosomal region 1.
      Title: Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
    9. Mutagenesis of the GM-CSF receptor at the dodecamer interface and functional studies reveal that dodecamer formation is required for receptor activation and signaling.
      Title: The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation.
    10. best diffracting crystals of ternary complex were obtained using the N346Q mutation of the betac subunit. Crystals grew using polyethylene glycol 3350 with a high concentration of proline, belonged to space group P6(3)22 and diffracted to 3.3 A resolution
      Title: Crystallization and preliminary X-ray diffraction analysis of the ternary human GM-CSF receptor complex.
    Submit: New GeneRIF Correction See all (23)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NP_006131.2 NP_000749.2 CSF2    HPRD  PubMed  
    NP_006131.2 Interleukin 3 receptor, beta CSF2RB    HPRD  PubMed  
    NP_006131.2 Phosphatidylinositol 3 kinase regulatory subunit, alpha PIK3R1    HPRD  PubMed  
    P15509 O15111 CHUK    HPRD  PubMed  
    P15509 P04141 CSF2    HPRD  PubMed  
    P15509 P15509 CSF2RA    HPRD  PubMed  
    P15509 P32927 CSF2RB    HPRD  PubMed  
    P15509 O14920 IKBKB    HPRD  PubMed  
    P15509 P10721 KIT    HPRD  PubMed  
    P15509 P07948 LYN    HPRD  PubMed  
    P15509 P27986 PIK3R1    HPRD  PubMed  
    P15509 P08865 RPSA    HPRD  PubMed  
    BioGRID:107825 BioGRID:107824 CSF2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107825 BioGRID:109767 IKBKB    BioGRID  PubMed FRET; Reconstituted Complex; Two-hybrid 
    BioGRID:107825 BioGRID:111313 PIK3R1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107825 BioGRID:112285 SDC2    BioGRID  PubMed Affinity Capture-Western 
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC3848, MGC4838

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    Names
    granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    GMR-alpha
    GMCSFR-alpha
    CD116 antigen
    GM-CSF receptor alpha subunit
    colony stimulating factor 2 receptor alpha subunit
    granulocyte-macrophage colony-stimulating factor receptor alpha chain

    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.

    Genomic

    1. NG_012280.1 RefSeqGene

      Range
      5001..46136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161529.1 → NP_001155001.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 7 encode the same isoform a, which is membrane-bound.
      Source sequence(s)
      AL833597, BC002635, BC071835, BI868829, X17648
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000416437, ENST00000432318
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 240
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    2. NM_001161530.1 → NP_001155002.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has an additional in-frame coding exon in the 3' region compared to variant 1. The resulting isoform (f) is the longest, and has identical N- and C-termini compared to isoform a.
      Source sequence(s)
      AL833597, DQ841258, X17648
      Consensus CDS
      CCDS55359.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000394227, ENST00000417535
      Conserved Domains (2) summary
      pfam13900
      Location:317 – 353
      Blast Score: 187
      GVQW; Putative binding domain
      cl12153
      Location:120 – 215
      Blast Score: 239
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    3. NM_001161531.1 → NP_001155003.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has an alternate 3' exon compared to variant 1. The resulting isoform (g) is longer and has different C-terminus compared to isoform a.
      Source sequence(s)
      BI868829, M64445
      Consensus CDS
      CCDS55360.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000370920, OTTHUMP00000014508, ENST00000381509, OTTHUMT00000035017
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 238
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    4. NM_001161532.1 → NP_001155004.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks a 5' UTR exon and a coding exon in the 5' region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (h) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK301395, AL833597, BC002635, BI868829, X17648
      Consensus CDS
      CCDS55361.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000440491, ENST00000501036
      Conserved Domains (1) summary
      pfam09240
      Location:1 – 82
      Blast Score: 201
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    5. NM_006140.4 → NP_006131.2  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variants 2 and 7 encode the same isoform (a), which is membrane-bound.
      Source sequence(s)
      AL833597, BI868829, X17648
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000370935, OTTHUMP00000014504, ENST00000381524, OTTHUMT00000035013
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 240
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    6. NM_172245.2 → NP_758448.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 7 encode the same isoform a, which is membrane-bound.
      Source sequence(s)
      AL833597, BI868829, X17648
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000370940, OTTHUMP00000014917, ENST00000381529, OTTHUMT00000035797
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 240
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    7. NM_172246.2 → NP_758449.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two coding exons in the 3' region, which causes a frameshift, compared to variant 1. The resulting isoform (b), which is likely soluble, is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL833597, BI868829, L29349
      Consensus CDS
      CCDS35190.1
      UniProtKB/TrEMBL
      J3JS77
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000347606, OTTHUMP00000014507, ENST00000355432, OTTHUMT00000035016
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 236
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    8. NM_172247.2 → NP_758450.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks a coding exon in the 3' region, which causes a frameshift, compared to variant 1. The resulting isoform (c), which is likely soluble, is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL833597, M64445, M73832, X17648
      Consensus CDS
      CCDS35192.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000370911, OTTHUMP00000014918, ENST00000381500, OTTHUMT00000035798
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 233
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    9. NM_172249.2 → NP_758452.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks four coding exons, which causes a frameshift, compared to variant 1. The resulting isoform (e), which is likely soluble, is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL833597, BI868829, U93096
      Consensus CDS
      CCDS35193.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000348058, OTTHUMP00000014505, ENST00000355805, OTTHUMT00000035014
      Conserved Domains (1) summary
      pfam09240
      Location:120 – 215
      Blast Score: 233
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    RNA

    1. NR_027760.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks a coding exon compared to variant 1. The resulting transcript is a nonsense-mediated mRNA decay (NMD) candidate, and is unlikely to make a functional protein.
      Source sequence(s)
      AL833597, BI868829, L29348

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p10 Primary Assembly

      Range
      1387693..1428828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. NW_001841157.1 Alternate HuRef

      Range
      621362..664898, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018934.1 Alternate CHM1_1.0

      Range
      1325697..1366380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172248.1: Suppressed sequence

      Description
      NM_172248.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01055739.1 (8699..17646) None
    genomic ABBA01055740.1 None
    genomic ABBA01055741.1 None
    genomic ABBA01055742.1 None
    genomic AMYH01021990.1 (20334..61017) None
    genomic BX649553.6 (41801..82936) None
    genomic CH471074.1 EAW98673.1
      EAW98674.1
      EAW98675.1
      EAW98676.1
      EAW98677.1
      EAW98678.1
    genomic D26628.2 BAA05656.1
    genomic S48475.1 None
    genomic S48539.1 AAB23942.1
    mRNA AK293086.1 BAF85775.1
    mRNA AK301395.1 BAG62930.1
    mRNA AK309630.1 None
    mRNA AL833597.1 None
    mRNA BC002635.1 AAH02635.1
    mRNA BC071835.1 AAH71835.1
    mRNA BI868829.1 None
    mRNA BM149332.1 None
    mRNA DQ841258.1 ABI32309.1
    mRNA L29348.1 AAA60961.1
    mRNA L29349.1 AAA60962.1
    mRNA M64445.1 AAA35908.1
    mRNA M73832.1 AAA35909.1
    mRNA U93096.1 AAB51535.1
    mRNA X17648.1 CAA35638.1
    mRNA X54935.1 CAA38697.1
    other-genetic DQ893104.2 ABM84030.1
    other-genetic DQ896376.2 ABM87375.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15509.1 GenPept UniProtKB/Swiss-Prot:P15509

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Link to related EST entry
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        Full text in PubMedCentral identified from shared sequence links
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      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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      • UniSTS
        Related UniSTS records

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