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    FTCDNL1 formiminotransferase cyclodeaminase N-terminal like [ Homo sapiens (human) ]

    Gene ID: 348751, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FTCDNL1provided by HGNC
    Official Full Name
    formiminotransferase cyclodeaminase N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:48661
    See related
    Ensembl:ENSG00000226124 MIM:614308; AllianceGenome:HGNC:48661
    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
    FONG
    Summary
    Predicted to enable folic acid binding activity and transferase activity. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 1.7), thyroid (RPKM 1.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FTCDNL1 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (199663835..199851192, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200147098..200334828, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (200625262..200715915, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1877 Neighboring gene selenophosphate synthetase 1 pseudogene 6 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:200715807-200716381 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:200734297-200735022 Neighboring gene uncharacterized LOC101927687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16950 Neighboring gene RNA, 7SL, cytoplasmic 717, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:200786527-200787028 Neighboring gene chromosome 2 open reading frame 69

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Association Study between the FTCDNL1 (FONG) and Susceptibility to Osteoporosis. Lu HF, et al. PLoS One, 2015. PMID 26492493, Free PMC Article
    2. Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese. Kou I, et al. PLoS One, 2011 May 6. PMID 21573128, Free PMC Article
    3. Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China. Meng XH, et al. J Orthop Surg Res, 2024 Aug 7. PMID 39113043, Free PMC Article
    4. Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases. Zhou H, et al. J Hum Genet, 2013 Feb. PMID 23303384
    5. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. Low SK, et al. Cancer Sci, 2013 Aug. PMID 23648065, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China.
      Title: Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China.
    2. rs10203122 in FTCDNL1 is associated with a susceptibility to osteoporosis.
      Title: Association Study between the FTCDNL1 (FONG) and Susceptibility to Osteoporosis.
    3. results suggest that Japanese subjects homozygous for the risk alleles of rs7605378 in FONG and rs12673629 in THSD7A have a significantly higher risk of vertebral fracture
      Title: Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases.
    4. A single nucleotide polymorphism (SNP), rs7605378 associated with osteoporosis, was identified, in a previously unknown gene on chromosome 2q33.1, FONG.
      Title: Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables folic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    formiminotransferase N-terminal subdomain-containing protein
    Names
    formiminotransferase N-terminal sub-domain containing
    formiminotransferase-cyclodeaminase N-terminal-like protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001350853.2 → NP_001337782.1  formiminotransferase N-terminal subdomain-containing protein isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AB568489, AC073043, BC039445, CA420421
      Consensus CDS
      CCDS86907.1
      UniProtKB/Swiss-Prot
      E5RQL4
      Related
      ENSP00000482786.1, ENST00000622774.2
      Conserved Domains (1) summary
      cl26845
      Location:13 → 133
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    2. NM_001350854.2 → NP_001337783.1  formiminotransferase N-terminal subdomain-containing protein isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC073043, AI934355, BC039445, BX100079
      Consensus CDS
      CCDS86909.1
      UniProtKB/TrEMBL
      H3BRX2
      Related
      ENSP00000456442.1, ENST00000420922.6
      Conserved Domains (1) summary
      pfam07837
      Location:13 → 114
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    3. NM_001350855.2 → NP_001337784.1  formiminotransferase N-terminal subdomain-containing protein isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC073043, BC039445, BF431605
      Consensus CDS
      CCDS86906.1
      UniProtKB/TrEMBL
      H3BMM2
      Related
      ENSP00000454447.1, ENST00000416668.5
      Conserved Domains (1) summary
      cl26845
      Location:13 → 72
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    4. NM_001363886.2 → NP_001350815.1  formiminotransferase N-terminal subdomain-containing protein isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC073043
      Consensus CDS
      CCDS86908.1
      UniProtKB/TrEMBL
      H3BUS8
      Related
      ENSP00000457780.1, ENST00000420128.6
      Conserved Domains (1) summary
      cl26845
      Location:13 → 133
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      199663835..199851192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452865.2 → XP_024308633.1  formiminotransferase N-terminal subdomain-containing protein isoform X12

      Conserved Domains (1) summary
      cl26845
      Location:13 → 74
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    2. XM_024452863.2 → XP_024308631.1  formiminotransferase N-terminal subdomain-containing protein isoform X11

      Conserved Domains (1) summary
      cl26845
      Location:13 → 71
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    3. XM_024452852.2 → XP_024308620.1  formiminotransferase N-terminal subdomain-containing protein isoform X3

      Conserved Domains (1) summary
      cl26845
      Location:13 → 132
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    4. XM_024452868.2 → XP_024308636.1  formiminotransferase N-terminal subdomain-containing protein isoform X14

      Conserved Domains (1) summary
      cl26845
      Location:13 → 70
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    5. XM_024452869.2 → XP_024308637.1  formiminotransferase N-terminal subdomain-containing protein isoform X15

      UniProtKB/TrEMBL
      H3BMM2
      Conserved Domains (1) summary
      cl26845
      Location:13 → 72
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    6. XM_047444164.1 → XP_047300120.1  formiminotransferase N-terminal subdomain-containing protein isoform X6

    7. XM_047444171.1 → XP_047300127.1  formiminotransferase N-terminal subdomain-containing protein isoform X15

      UniProtKB/TrEMBL
      H3BMM2

    8. XM_024452858.2 → XP_024308626.1  formiminotransferase N-terminal subdomain-containing protein isoform X9

      Conserved Domains (1) summary
      cl26845
      Location:13 → 70
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    9. XM_024452855.2 → XP_024308623.1  formiminotransferase N-terminal subdomain-containing protein isoform X6

      Conserved Domains (1) summary
      cl26845
      Location:13 → 133
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    10. XM_024452861.2 → XP_024308629.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2
      Conserved Domains (1) summary
      pfam07837
      Location:13 → 114
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    11. XM_047444170.1 → XP_047300126.1  formiminotransferase N-terminal subdomain-containing protein isoform X13

    12. XM_024452872.2 → XP_024308640.1  formiminotransferase N-terminal subdomain-containing protein isoform X17

      Conserved Domains (1) summary
      cl26845
      Location:13 → 70
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    13. XM_024452854.2 → XP_024308622.1  formiminotransferase N-terminal subdomain-containing protein isoform X5

      Conserved Domains (1) summary
      cl26845
      Location:13 → 133
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    14. XM_047444167.1 → XP_047300123.1  formiminotransferase N-terminal subdomain-containing protein isoform X8

    15. XM_047444161.1 → XP_047300117.1  formiminotransferase N-terminal subdomain-containing protein isoform X1

    16. XM_024452857.2 → XP_024308625.1  formiminotransferase N-terminal subdomain-containing protein isoform X8

      Conserved Domains (1) summary
      cl26845
      Location:13 → 132
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    17. XM_047444160.1 → XP_047300116.1  formiminotransferase N-terminal subdomain-containing protein isoform X1

    18. XM_047444173.1 → XP_047300129.1  formiminotransferase N-terminal subdomain-containing protein isoform X16

    19. XM_047444166.1 → XP_047300122.1  formiminotransferase N-terminal subdomain-containing protein isoform X7

      UniProtKB/TrEMBL
      H3BUS8

    20. XM_047444172.1 → XP_047300128.1  formiminotransferase N-terminal subdomain-containing protein isoform X16

    21. XM_047444165.1 → XP_047300121.1  formiminotransferase N-terminal subdomain-containing protein isoform X7

      UniProtKB/TrEMBL
      H3BUS8

    22. XM_047444162.1 → XP_047300118.1  formiminotransferase N-terminal subdomain-containing protein isoform X2

    23. XM_024452853.2 → XP_024308621.2  formiminotransferase N-terminal subdomain-containing protein isoform X4

      UniProtKB/Swiss-Prot
      E5RQL4

    24. XM_047444163.1 → XP_047300119.1  formiminotransferase N-terminal subdomain-containing protein isoform X4

      UniProtKB/Swiss-Prot
      E5RQL4

    25. XM_047444174.1 → XP_047300130.1  formiminotransferase N-terminal subdomain-containing protein isoform X18

    26. XM_047444169.1 → XP_047300125.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2

    27. XM_047444168.1 → XP_047300124.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2

    28. XM_024452860.2 → XP_024308628.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2
      Conserved Domains (1) summary
      pfam07837
      Location:13 → 114
      FTCD_N; Formiminotransferase domain, N-terminal subdomain

    RNA

    1. XR_007074202.1 RNA Sequence

    2. XR_002959289.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      200147098..200334828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341800.1 → XP_054197775.1  formiminotransferase N-terminal subdomain-containing protein isoform X12

    2. XM_054341799.1 → XP_054197774.1  formiminotransferase N-terminal subdomain-containing protein isoform X11

    3. XM_054341784.1 → XP_054197759.1  formiminotransferase N-terminal subdomain-containing protein isoform X3

    4. XM_054341802.1 → XP_054197777.1  formiminotransferase N-terminal subdomain-containing protein isoform X14

    5. XM_054341804.1 → XP_054197779.1  formiminotransferase N-terminal subdomain-containing protein isoform X15

      UniProtKB/TrEMBL
      H3BMM2

    6. XM_054341789.1 → XP_054197764.1  formiminotransferase N-terminal subdomain-containing protein isoform X6

    7. XM_054341803.1 → XP_054197778.1  formiminotransferase N-terminal subdomain-containing protein isoform X15

      UniProtKB/TrEMBL
      H3BMM2

    8. XM_054341794.1 → XP_054197769.1  formiminotransferase N-terminal subdomain-containing protein isoform X9

    9. XM_054341788.1 → XP_054197763.1  formiminotransferase N-terminal subdomain-containing protein isoform X6

    10. XM_054341797.1 → XP_054197772.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2

    11. XM_054341801.1 → XP_054197776.1  formiminotransferase N-terminal subdomain-containing protein isoform X13

    12. XM_054341807.1 → XP_054197782.1  formiminotransferase N-terminal subdomain-containing protein isoform X17

    13. XM_054341787.1 → XP_054197762.1  formiminotransferase N-terminal subdomain-containing protein isoform X5

    14. XM_054341793.1 → XP_054197768.1  formiminotransferase N-terminal subdomain-containing protein isoform X8

    15. XM_054341782.1 → XP_054197757.1  formiminotransferase N-terminal subdomain-containing protein isoform X1

    16. XM_054341781.1 → XP_054197756.1  formiminotransferase N-terminal subdomain-containing protein isoform X1

    17. XM_054341792.1 → XP_054197767.1  formiminotransferase N-terminal subdomain-containing protein isoform X8

    18. XM_054341791.1 → XP_054197766.1  formiminotransferase N-terminal subdomain-containing protein isoform X7

      UniProtKB/TrEMBL
      H3BUS8

    19. XM_054341805.1 → XP_054197780.1  formiminotransferase N-terminal subdomain-containing protein isoform X16

    20. XM_054341790.1 → XP_054197765.1  formiminotransferase N-terminal subdomain-containing protein isoform X7

      UniProtKB/TrEMBL
      H3BUS8

    21. XM_054341783.1 → XP_054197758.1  formiminotransferase N-terminal subdomain-containing protein isoform X2

    22. XM_054341806.1 → XP_054197781.1  formiminotransferase N-terminal subdomain-containing protein isoform X16

    23. XM_054341785.1 → XP_054197760.1  formiminotransferase N-terminal subdomain-containing protein isoform X4

      UniProtKB/Swiss-Prot
      E5RQL4

    24. XM_054341786.1 → XP_054197761.1  formiminotransferase N-terminal subdomain-containing protein isoform X4

      UniProtKB/Swiss-Prot
      E5RQL4

    25. XM_054341809.1 → XP_054197784.1  formiminotransferase N-terminal subdomain-containing protein isoform X18

    26. XM_054341808.1 → XP_054197783.1  formiminotransferase N-terminal subdomain-containing protein isoform X18

    27. XM_054341798.1 → XP_054197773.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2

    28. XM_054341796.1 → XP_054197771.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2

    29. XM_054341795.1 → XP_054197770.1  formiminotransferase N-terminal subdomain-containing protein isoform X10

      UniProtKB/TrEMBL
      H3BRX2

    RNA

    1. XR_008486360.1 RNA Sequence

    2. XR_008486361.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E5RQL4.1 GenPept UniProtKB/Swiss-Prot:E5RQL4

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