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    MAB21L4 mab-21 like 4 [ Homo sapiens (human) ]

    Gene ID: 79919, updated on 17-Sep-2024

    Summary

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    Official Symbol
    MAB21L4provided by HGNC
    Official Full Name
    mab-21 like 4provided by HGNC
    Primary source
    HGNC:HGNC:26216
    See related
    Ensembl:ENSG00000172478 AllianceGenome:HGNC:26216
    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
    C2orf54
    Expression
    Biased expression in esophagus (RPKM 32.6), skin (RPKM 11.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAB21L4 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240886048..240896839, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241385221..241396155, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241825465..241835573, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241673162-241673662 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 Neighboring gene kinesin family member 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241736458-241736958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241736959-241737459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241737588-241738429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241751150-241751760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241756052-241756691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241760048-241760622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241771685-241772681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241778610-241779110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241807760-241808260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241834201-241834836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241836109-241836744 Neighboring gene alanine--glyoxylate aminotransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241841593-241842094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241842095-241842594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241844406-241844906 Neighboring gene ciliary rootlet coiled-coil, rootletin family member 2 Neighboring gene uncharacterized LOC112268440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241888541-241889058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241893434-241894005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241894006-241894576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241897431-241898000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241901185-241902036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241902037-241902887 Neighboring gene up-regulated in colorectal cancer liver metastasis

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET.
      Title: MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET.
    2. MAB21L4 regulates the TGF-beta-induced expression of target genes in epidermal keratinocytes.
      Title: MAB21L4 regulates the TGF-β-induced expression of target genes in epidermal keratinocytes.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22671, MGC150431, MGC150432

    General protein information

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    Preferred Names
    protein mab-21-like 4
    Names
    uncharacterized protein C2orf54

    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_001085437.3 → NP_001078906.3  protein mab-21-like 4 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC104809
      Consensus CDS
      CCDS42839.1
      UniProtKB/Swiss-Prot
      B3KPP9, H7BXM3, Q08AI8, Q08AI9, Q53QU5, Q9H622
      Related
      ENSP00000373586.4, ENST00000388934.5
      Conserved Domains (1) summary
      pfam03281
      Location:143 → 363
      Mab-21; Mab-21 protein

    2. NM_001282921.2 → NP_001269850.2  protein mab-21-like 4 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' terminal exon, which includes the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC104809
      Consensus CDS
      CCDS63187.1
      UniProtKB/TrEMBL
      B3KU29
      Related
      ENSP00000302779.8, ENST00000307486.12
      Conserved Domains (1) summary
      pfam03281
      Location:147 → 214
      Mab-21; Mab-21 protein

    3. NM_024861.4 → NP_079137.4  protein mab-21-like 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' terminal exon, which includes the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC104809
      Consensus CDS
      CCDS42840.1
      UniProtKB/TrEMBL
      B3KU29
      Related
      ENSP00000385338.2, ENST00000402775.6
      Conserved Domains (1) summary
      pfam03281
      Location:128 → 195
      Mab-21; Mab-21 protein

    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
      240886048..240896839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511877.2 → XP_011510179.1  protein mab-21-like 4 isoform X1

      See identical proteins and their annotated locations for XP_011510179.1

      UniProtKB/Swiss-Prot
      B3KPP9, H7BXM3, Q08AI8, Q08AI9, Q53QU5, Q9H622
      Conserved Domains (1) summary
      pfam03281
      Location:143 → 363
      Mab-21; Mab-21 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241385221..241396155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343997.1 → XP_054199972.1  protein mab-21-like 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08AI8.2 GenPept UniProtKB/Swiss-Prot:Q08AI8

    Gene LinkOut

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

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