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

Gene ID: 54566, updated on 3-Nov-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, Nov 2024]
Expression
Broad expression in colon (RPKM 20.8), thyroid (RPKM 15.3) and 18 other tissues See more
Orthologs
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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 (43) 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)

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

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