U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 79919, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
2q37.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240886048..240896839, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241385221..241396155, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. MAB21L4 regulates the TGF-β-induced expression of target genes in epidermal keratinocytes. Ogami T, et al. J Biochem, 2022 Mar 31. PMID 34908107, Free PMC Article
  2. MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET. Srivastava A, et al. Cancer Res, 2022 Sep 2. PMID 35705526, Free PMC Article
  3. Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma. Mahlokozera T, et al. Nat Commun, 2021 Nov 3. PMID 34732716, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

See all (7) citations in PubMed

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ22671, MGC150431, MGC150432

General protein information

Go to the top of the page Help
Preferred Names
protein mab-21-like 4
Names
uncharacterized protein C2orf54

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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_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
    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.

Molecular Biology Databases
Research Materials
Tools
Miscellaneous