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    CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit [ Homo sapiens (human) ]

    Gene ID: 778, updated on 11-May-2013
    Official Symbol
    CACNA1Fprovided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, L type, alpha 1F subunitprovided by HGNC
    Primary source
    HGNC:1393
    See related
    Ensembl:ENSG00000102001; HPRD:02119; MIM:300110; Vega:OTTHUMG00000022703
    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
    JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4
    Summary
    This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq, Feb 2012]
    Location :
    Xp11.23
    Sequence :
    Chromosome: X; NC_000023.10 (49061523..49089833, complement)
    See CACNA1F in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene prickle homolog 3 (Drosophila) Neighboring gene synaptophysin Neighboring gene heat shock 27kDa protein 1 pseudogene 2 Neighboring gene coiled-coil domain containing 22 Neighboring gene forkhead box P3

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). Shaltiel L, et al. J Biol Chem, 2012 Oct 19. PMID 22936811.
    2. Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene. Vincent A, et al. Eye (Lond), 2012 Sep. PMID 22744390.
    3. Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness. Wang Q, et al. Int J Mol Med, 2012 Sep. PMID 22735794.
    4. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Vincent A, et al. Mol Vis, 2011. PMID 22194652.
    5. Alternative splicing at C terminus of Ca(V)1.4 calcium channel modulates calcium-dependent inactivation, activation potential, and current density. Tan GM, et al. J Biol Chem, 2012 Jan 6. PMID 22069316.

    See all (46) 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. This is the first case report describing outer retinal structural anomaly consistent with abnormal bipolar cell synapses in CACNA1F-related disease.
      Title: Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.
    2. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).
      Title: Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).
    3. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB).
      Title: Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
    4. A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a Canadian family.
      Title: A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    5. Congenital stationary night blindness (CSNB2) patients had significantly thinner retinas than myopic controls; and demonstrated qualitatively normal SD OCT and FAF images, and therefore can be differentiated from retinitis pigmentosa patients.
      Title: Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
    6. Observational study of genetic testing. (HuGE Navigator)
      Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk.
    8. Temperature dependence of Cav1.4 calcium channel gating.
      Title: Temperature dependence of Cav1.4 calcium channel gating.
    9. These findings suggest that the pathology of CSNB-2 in patients with these missense mutations in the Ca(v)1.4 calcium channel is the result in either a gain of function (F742C) or a loss of function (G1007R, R1049W).
      Title: Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
    10. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution
      Title: Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
    Submit: New GeneRIF Correction See all (25)

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

    Review eQTL and phenotype association data in this region using PheGenI

    Congenital stationary night blindness, type 2A

    Summary from GeneReviews: X-Linked Congenital Stationary Night Blindness Go to GeneReviews

    Disease Characteristics
    X-linked congenital stationary night blindness (CSNB) is characterized by: non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (>/=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Two overlapping, yet distinct, phenotypes are recognized: Complete CSNB (CSNB1A), caused by mutations in NYX (45%). Incomplete CSNB (CSNB2A), caused by mutations in CACNA1F (55%).
    Diagnosis Testing
    Diagnosis is based on clinical findings, characteristic findings on electroretinography (ERG), family history, and molecular genetic testing of NYX and CACNA1F, the only two genes in which mutations are known to cause X-linked CSNB.
    Genetic Counseling
    X-linked CSNB is inherited in an X-linked manner. The father of an affected male will not have X-linked CSNB nor will he be a carrier of the disease-causing mutation. If the mother of the proband is a carrier, the chance of transmitting the disease-causing mutation in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will usually not be affected. Males with X-linked CSNB will pass the disease-causing mutation to all of their daughters and none of their sons. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible for families in which the disease-causing mutation has been identified.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    O60840 P57796 CABP4    HPRD  PubMed  
    BioGRID:107232 BioGRID:121324 CABP4    BioGRID  PubMed Reconstituted Complex 
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
      GnRH signaling pathway, conserved biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
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    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    voltage-dependent L-type calcium channel subunit alpha-1F
    Names
    voltage-dependent L-type calcium channel subunit alpha-1F
    Cav1.4alpha1
    voltage gated calcium channel alpha 1F subunit
    voltage-gated calcium channel subunit alpha Cav1.4
    Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)

    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_009095.1 RefSeqGene

      Range
      5001..33311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256789.1 → NP_001243718.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AJ224874, BM931932
      Consensus CDS
      CCDS59167.1
      UniProtKB/TrEMBL
      F5CIQ9
      UniProtKB/Swiss-Prot
      O60840
      Related
      ENSP00000321618, OTTHUMP00000024299, ENST00000323022, OTTHUMT00000058912
      Conserved Domains (3) summary
      pfam08763
      Location:1568 – 1596
      Blast Score: 152
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1213 – 1429
      Blast Score: 475
      Ion_trans; Ion transport protein
      pfam08016
      Location:1207 – 1434
      Blast Score: 155
      PKD_channel; Polycystin cation channel

    2. NM_001256790.1 → NP_001243719.1  voltage-dependent L-type calcium channel subunit alpha-1F isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate splice junction in the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter and distinct internal segment in the N-terminal region, compared to isoform 1.
      Source sequence(s)
      AF067227
      Consensus CDS
      CCDS59166.1
      UniProtKB/Swiss-Prot
      O60840
      Related
      ENSP00000365427, OTTHUMP00000032032, ENST00000376251, OTTHUMT00000081205
      Conserved Domains (3) summary
      pfam08763
      Location:1514 – 1542
      Blast Score: 151
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1159 – 1375
      Blast Score: 467
      Ion_trans; Ion transport protein
      pfam08016
      Location:1153 – 1380
      Blast Score: 153
      PKD_channel; Polycystin cation channel

    3. NM_005183.2 → NP_005174.2  voltage-dependent L-type calcium channel subunit alpha-1F isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA019975, AF201304
      Consensus CDS
      CCDS35253.1
      UniProtKB/Swiss-Prot
      O60840
      Related
      ENSP00000365441, OTTHUMP00000216983, ENST00000376265, OTTHUMT00000358157
      Conserved Domains (3) summary
      pfam08763
      Location:1579 – 1607
      Blast Score: 152
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam00520
      Location:1224 – 1440
      Blast Score: 476
      Ion_trans; Ion transport protein
      pfam08016
      Location:1218 – 1445
      Blast Score: 155
      PKD_channel; Polycystin cation channel

    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 PATCHES

    Genomic

    1. NW_004070880.1 Reference GRCh37.p10 PATCHES

      Range
      1444492..1472800, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p10 Primary Assembly

      Range
      49061523..49089833, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      46718790..46746229, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018934.1 Alternate CHM1_1.0

      Range
      48981258..49009567, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01046135.1 (2389..2841) None
    genomic ABBA01046136.1 None
    genomic ABBA01046137.1 None
    genomic ABBA01046138.1 None
    genomic ABBA01046139.1 None
    genomic ABBA01046140.1 None
    genomic ABBA01046141.1 None
    genomic AC232271.2 (50106..78414) None
    genomic AF196779.2 (166750..176767) None
    genomic AF235097.2 (22038..40330) None
    genomic AJ006216.1 CAA06916.1
    genomic AMYH01022294.1 (19168..47477) None
    genomic CH471224.1 EAW50677.1
      EAW50678.1
      EAW50679.1
      EAW50680.1
      EAW50681.1
      EAW50682.1
      EAW50683.1
    genomic U93305.1 AAB92359.1
    mRNA AA019975.1 None
    mRNA AF067227.1 AAD03587.1
    mRNA AF201304.1 AAF15290.1
    mRNA AJ224874.1 CAA12175.1
    mRNA BM931932.1 None
    mRNA JF701915.1 AED89557.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60840.2 GenPept UniProtKB/Swiss-Prot:O60840

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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      • CCDS
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      • ClinVar
        Related medical variations
      • Conserved Domains
        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.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
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        Full text in PubMedCentral identified from shared sequence links
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        Related information in MedGen
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        Link to related Nucleotide entry
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        Related Probe entry
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        Link to related protein entry
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        PubChem Compounds
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        PubChem Substances
      • 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
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
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        SNPs linked from GeneView
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        Gene Genotype Report
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        Related Clinical SNP
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        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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