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MTHFD2P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 100287639, updated on 16-Jan-2024

Summary

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Official Symbol
MTHFD2P1provided by HGNC
Official Full Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:48859
See related
Ensembl:ENSG00000293294 AllianceGenome:HGNC:48859
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
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Genomic context

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Location:
3q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (95654423..95683193, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (98356681..98385446, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (95373267..95402037, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:94656674-94657873 Neighboring gene long intergenic non-protein coding RNA 879 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:94722999-94723582 Neighboring gene WD repeat domain 82 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:94755350-94755877 Neighboring gene ribosomal protein S18 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:95006249-95006877 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:95067628-95068442 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:95432974-95433112 Neighboring gene Sharpr-MPRA regulatory region 9245 Neighboring gene NANOG hESC enhancer GRCh37_chr3:95819811-95820312 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:95928173-95929372 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 4 Neighboring gene microRNA 8060

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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Clone Names

  • FLJ34909

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.

RNA

  1. NR_077228.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC131151, AC134998, AK092228
    Related
    ENST00000494840.1

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    95654423..95683193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    98356681..98385446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_005661.3: Suppressed sequence

    Description
    NG_005661.3: This RefSeq was permanently suppressed because it was defined based on the wrong sequence range for this gene.

  2. NG_022212.2: Suppressed sequence

    Description
    NG_022212.2: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
Nucleotide Protein
Heading Accession and Version

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