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

Gene ID: 348751, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
2q33.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (199663835..199851192, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200147098..200334828, complement)
105.20220307 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
  • 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. 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
  4. 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
  5. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Ripke S, et al. Nat Genet, 2013 Oct. PMID 23974872, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. rs10203122 in FTCDNL1 is associated with a susceptibility to osteoporosis.
    Title: Association Study between the FTCDNL1 (FONG) and Susceptibility to Osteoporosis.
  2. 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.
  3. 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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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_2023_10

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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