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    EPB41L4B erythrocyte membrane protein band 4.1 like 4B [ Homo sapiens (human) ]

    Gene ID: 54566, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EPB41L4Bprovided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.1 like 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:19818
    See related
    Ensembl:ENSG00000095203 MIM:610340; AllianceGenome:HGNC:19818
    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
    CG1; EHM2; LULU2
    Summary
    Predicted to be a structural constituent of cytoskeleton. Involved in several processes, including positive regulation of cell adhesion; positive regulation of keratinocyte migration; and wound healing. Acts upstream of or within actomyosin structure organization. Located in apical part of cell; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in colon (RPKM 20.8), thyroid (RPKM 15.3) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPB41L4B in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (109171974..109321059, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121341055..121490407, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111934254..112083339, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 245 Neighboring gene microRNA 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20164 Neighboring gene ferric chelate reductase 1 like Neighboring gene Sharpr-MPRA regulatory region 1434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:111947797-111948296 Neighboring gene RNA, U6 small nuclear 984, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20167 Neighboring gene MT-ND2 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28765 Neighboring gene protein tyrosine phosphatase non-receptor type 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:112193017-112193518 Neighboring gene Sharpr-MPRA regulatory region 2753 Neighboring gene HNF1 motif-containing MPRA enhancer 98 Neighboring gene microRNA 3927 Neighboring gene Y-box binding protein 1 pseudogene 6

    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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    Related articles in PubMed

    1. Androgen control of cell proliferation and cytoskeletal reorganization in human fibrosarcoma cells: role of RhoB signaling. Chauhan S, et al. J Biol Chem, 2004 Jan 9. PMID 14576147, Free PMC Article
    2. Ehm2 transcript variant 1 inhibits breast cancer progression and increases E-cadherin stability. Yin X, et al. Carcinogenesis, 2022 Dec 31. PMID 36422008, Free PMC Article
    3. The expanding family of FERM proteins. Moleirinho S, et al. Biochem J, 2013 Jun 1. PMID 23662806
    4. Differential expression and functions of Ehm2 transcript variants in lung adenocarcinoma. Li S, et al. Int J Oncol, 2019 May. PMID 30816447
    5. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Chadwick BP, et al. Mamm Genome, 2000 Jan. PMID 10603000

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ehm2 transcript variant 1 inhibits breast cancer progression and increases E-cadherin stability.
      Title: Ehm2 transcript variant 1 inhibits breast cancer progression and increases E-cadherin stability.
    2. Data show that the two Ehm2 variants appear to be differentially expressed in lung adenocarcinoma. Ehm2/1 may function as a putative tumor suppressor in the disease progression of lung adenocarcinoma, while Ehm2/2 may have an opposite function.
      Title: Differential expression and functions of Ehm2 transcript variants in lung adenocarcinoma.
    3. We found that CRB3-induced proliferation is epidermal growth factor (EGF)-independent and occurs through a mechanism that involves secretion of the EGF-family ligand, amphiregulin (AREG)..We identified the FBD-containing protein, EPB41L4B, as an essential mediator of CRB3-driven proliferation and observed that the CRB3-dependent changes in endocytic trafficking were also dependent on EPB41L4B
      Title: CRB3 and the FERM protein EPB41L4B regulate proliferation of mammary epithelial cells through the release of amphiregulin.
    4. CRB3A recruits p114RhoGEF and its activator Ehm2 to the cell periphery using both functional motifs of its cytoplasmic tail and increases RhoA activation levels.
      Title: CRB3A Controls the Morphology and Cohesion of Cancer Cells through Ehm2/p114RhoGEF-Dependent Signaling.
    5. Ehm2 may be an important player in the wound healing process; Ehm2 knockdown downregulates the expression of NWasp, through which it may have its effect on cellular migration
      Title: Expressed in high metastatic cells (Ehm2) is a positive regulator of keratinocyte adhesion and motility: The implication for wound healing.
    6. (review) FERM domains are found in a wide variety of proteins, but in particular they constitute the major, and in some cases the only, recognized functional domain present in the FRMDs.
      Title: The expanding family of FERM proteins.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21596, DKFZp761N1814

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within actomyosin structure organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of keratinocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in regulation of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    band 4.1-like protein 4B
    Names
    FERM-containing protein CG1

    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_001385623.1 → NP_001372552.1  band 4.1-like protein 4B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL358815, AL359963
      Conserved Domains (3) summary
      smart00295
      Location:87 → 277
      B41; Band 4.1 homologues
      cd13186
      Location:273 → 366
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:379 → 420
      FA; FERM adjacent (FA)

    2. NM_018424.3 → NP_060894.2  band 4.1-like protein 4B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 1 which is shorter and has a distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AB032179, AF153416, AF153418, AI432950, AK000388
      Consensus CDS
      CCDS43860.1
      UniProtKB/TrEMBL
      Q9NX84
      Related
      ENSP00000363685.3, ENST00000374557.4
      Conserved Domains (3) summary
      smart00295
      Location:87 → 277
      B41; Band 4.1 homologues
      cd13186
      Location:273 → 366
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam08736
      Location:379 → 419
      FA; FERM adjacent (FA)

    3. NM_019114.5 → NP_061987.3  band 4.1-like protein 4B isoform 2

      See identical proteins and their annotated locations for NP_061987.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AL358815, AL359963
      Consensus CDS
      CCDS43859.1
      UniProtKB/Swiss-Prot
      Q5T4G5, Q5T4G6, Q9H328, Q9H329, Q9P2V3
      Related
      ENSP00000363694.3, ENST00000374566.8
      Conserved Domains (5) summary
      smart00295
      Location:87 → 277
      B41; Band 4.1 homologues
      cd13186
      Location:273 → 366
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam00373
      Location:170 → 277
      FERM_M; FERM central domain
      pfam08736
      Location:379 → 419
      FA; FERM adjacent (FA)
      pfam09379
      Location:89 → 151
      FERM_N; FERM N-terminal domain

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      109171974..109321059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014815.2 → XP_016870304.1  band 4.1-like protein 4B isoform X6

    2. XM_017014814.2 → XP_016870303.1  band 4.1-like protein 4B isoform X4

    3. XM_011518791.3 → XP_011517093.1  band 4.1-like protein 4B isoform X2

      Conserved Domains (5) summary
      smart00295
      Location:87 → 277
      B41; Band 4.1 homologues
      cd13186
      Location:273 → 366
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam00373
      Location:170 → 277
      FERM_M; FERM central domain
      pfam08736
      Location:379 → 419
      FA; FERM adjacent (FA)
      pfam09379
      Location:89 → 151
      FERM_N; FERM N-terminal domain

    4. XM_011518794.3 → XP_011517096.1  band 4.1-like protein 4B isoform X5

      Conserved Domains (5) summary
      smart00295
      Location:87 → 277
      B41; Band 4.1 homologues
      cd13186
      Location:273 → 366
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam00373
      Location:170 → 277
      FERM_M; FERM central domain
      pfam08736
      Location:379 → 419
      FA; FERM adjacent (FA)
      pfam09379
      Location:89 → 151
      FERM_N; FERM N-terminal domain

    5. XM_017014813.2 → XP_016870302.1  band 4.1-like protein 4B isoform X3

    6. XM_011518790.2 → XP_011517092.1  band 4.1-like protein 4B isoform X1

      Conserved Domains (5) summary
      smart00295
      Location:87 → 277
      B41; Band 4.1 homologues
      cd13186
      Location:273 → 366
      FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
      pfam00373
      Location:170 → 277
      FERM_M; FERM central domain
      pfam08736
      Location:379 → 419
      FA; FERM adjacent (FA)
      pfam09379
      Location:89 → 151
      FERM_N; FERM N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      121341055..121490407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363128.1 → XP_054219103.1  band 4.1-like protein 4B isoform X6

    2. XM_054363126.1 → XP_054219101.1  band 4.1-like protein 4B isoform X4

    3. XM_054363124.1 → XP_054219099.1  band 4.1-like protein 4B isoform X2

    4. XM_054363127.1 → XP_054219102.1  band 4.1-like protein 4B isoform X5

    5. XM_054363125.1 → XP_054219100.1  band 4.1-like protein 4B isoform X3

    6. XM_054363123.1 → XP_054219098.1  band 4.1-like protein 4B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H329.2 GenPept UniProtKB/Swiss-Prot:Q9H329

    Gene LinkOut

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

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