MAB21L4 Gene (Protein Coding)

Mab-21 Like 4

GC02M240887
GIFtS:
23
See more...

Aliases for MAB21L4 Gene

Aliases for MAB21L4 Gene

  • Mab-21 Like 4 2 3 5
  • Protein Mab-21-Like 4 3 4
  • C2orf54 3 4
  • Chromosome 2 Open Reading Frame 54 2
  • Uncharacterized Protein C2orf54 3
  • FLJ22671 2
  • MAB21L4 5

External Ids for MAB21L4 Gene

Previous HGNC Symbols for MAB21L4 Gene

  • C2orf54

Summaries for MAB21L4 Gene

GeneCards Summary for MAB21L4 Gene

MAB21L4 (Mab-21 Like 4) is a Protein Coding gene. Diseases associated with MAB21L4 include Venous Hemangioma and Cervical Incompetence. An important paralog of this gene is MAB21L3.

Additional gene information for MAB21L4 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAB21L4 Gene

Genomics for MAB21L4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAB21L4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J240895 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 271.5 -0.6 -647 3.5 ZEB1 ELF1 ZIC2 SMAD4 SAP130 RXRA GABPB1 CTBP1 RARA TEAD3 MAB21L4 AGXT CROCC2 HSALNG0023623
GH02J240892 Promoter/Enhancer 0.7 EPDnew dbSUPER 268.8 +4.8 4834 0.1 ZIC2 NFIC MAB21L4 ENSG00000229996 HSALNG0023622 AGXT
GH02J240896 Promoter/Enhancer 0.5 Ensembl dbSUPER 270.2 +1.8 1788 0.2 MAB21L4 HSALNG0023622 AGXT
GH02J240818 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 14.3 +76.9 76888 3.2 ZBTB10 ZIC2 SIN3A ZNF341 KLF9 YY1 SP2 ZFP37 ZBTB48 TAF1 HSALNG0023618 HSALNG0023619 NDUFA10 MAB21L4 AGXT MTERF4 KIF1A AQP12A
GH02J240912 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 -18.3 -18277 6.7 MXD4 ZNF217 CTCF ZIC2 THAP11 TRIM22 MIER3 SMC3 GABPB1 RAD21 MAB21L4 AGXT ENSG00000223991 SNED1 GPC1 RNPEPL1 CROCC2 HSALNG0023624
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAB21L4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAB21L4

Genomic Locations for MAB21L4 Gene

Latest Assembly
chr2:240,886,048-240,896,889
(GRCh38/hg38)
Size:
10,842 bases
Orientation:
Minus strand

Previous Assembly
chr2:241,825,465-241,835,573
(GRCh37/hg19 by Entrez Gene)
Size:
10,109 bases
Orientation:
Minus strand

chr2:241,825,465-241,836,306
(GRCh37/hg19 by Ensembl)
Size:
10,842 bases
Orientation:
Minus strand

Genomic View for MAB21L4 Gene

Genes around MAB21L4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAB21L4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAB21L4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAB21L4 Gene

Proteins for MAB21L4 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for MAB21L4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AI8-MB214_HUMAN
    Recommended name:
    Protein mab-21-like 4
    Protein Accession:
    Q08AI8
    Secondary Accessions:
    • B3KPP9
    • H7BXM3
    • Q08AI9
    • Q53QU5
    • Q9H622

    Protein attributes for MAB21L4 Gene

    Size:
    447 amino acids
    Molecular mass:
    49565 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MAB21L4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAB21L4 Gene

Post-translational modifications for MAB21L4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAB21L4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAB21L4 Gene

Domains & Families for MAB21L4 Gene

Gene Families for MAB21L4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAB21L4 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with MAB21L4: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAB21L4 Gene

Function for MAB21L4 Gene

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  1. Animal Models for research
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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for MAB21L4 Gene

genes like me logo Genes that share phenotypes with MAB21L4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAB21L4

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAB21L4 Gene

Localization for MAB21L4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAB21L4 gene
Compartment Confidence
nucleus 2
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MAB21L4 Gene

Pathways & Interactions for MAB21L4 Gene

PathCards logo

SuperPathways for MAB21L4 Gene

No Data Available

Interacting Proteins for MAB21L4 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000373586 Q08AI8-MB214_HUMAN for MAB21L4 Gene via STRING IID

GPS-Prot Interaction Network for MAB21L4

Gene Ontology (GO) - Biological Process for MAB21L4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MAB21L4 Gene

Drugs & Compounds for MAB21L4 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for MAB21L4 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for MAB21L4 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAB21L4

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for MAB21L4 Gene

No ASD Table

Relevant External Links for MAB21L4 Gene

GeneLoc Exon Structure for
MAB21L4

Expression for MAB21L4 Gene

Products:

  1. Primer products for research

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAB21L4

SOURCE GeneReport for Unigene cluster for MAB21L4 Gene:

Hs.193745
genes like me logo Genes that share expression patterns with MAB21L4: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAB21L4 Gene

Orthologs for MAB21L4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAB21L4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia C2BH2orf54 30
  • 99.4 (n)
C2orf54 31
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C25H2orf54 30
  • 85.02 (n)
-- 31
  • 80 (a)
 OneToMany
-- 31
  • 79 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia C3H2orf54 30
  • 82.85 (n)
C2orf54 31
  • 75 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia 2310007B03Rik 30 31
  • 79.79 (n)
 OneToOne
Mab21l4 17
Rat
(Rattus norvegicus)
 Mammalia RGD1563692 30
  • 78.82 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia C2orf54 31
  • 65 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C2orf54 31
  • 63 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves C2ORF54 30
  • 62.56 (n)
C2orf54 31
  • 47 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia C2orf54 31
  • 48 (a)
 OneToOne
Species where no ortholog for MAB21L4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MAB21L4 Gene

ENSEMBL:
Gene Tree for MAB21L4 (if available)
TreeFam:
Gene Tree for MAB21L4 (if available)

Paralogs for MAB21L4 Gene

Paralogs for MAB21L4 Gene

genes like me logo Genes that share paralogs with MAB21L4: view

Variants for MAB21L4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAB21L4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs4359646 - p.Ala170Thr
rs6707568 - p.Leu309Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAB21L4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAB21L4 Gene

Variant ID Type Subtype PubMed ID
dgv7376n54 CNV loss 21841781
esv2721955 CNV deletion 23290073
nsv460167 CNV gain 19166990
nsv460168 CNV loss 19166990
nsv470531 CNV loss 18288195
nsv519993 CNV loss 19592680
nsv584861 CNV gain 21841781
nsv584886 CNV loss 21841781
nsv955294 CNV deletion 24416366

Variation tolerance for MAB21L4 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAB21L4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAB21L4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAB21L4 Gene

Disorders for MAB21L4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAB21L4 Gene - From: COP

Disorder Aliases PubMed IDs
venous hemangioma
cervical incompetence
  • uterine cervical incompetence
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAB21L4

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAB21L4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAB21L4 Gene

Publications for MAB21L4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

ExternalLinks

View latest publications for MAB21L4 gene in Mastermind

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