Gene Gene information from NCBI Gene database.
Entrez ID 54566
Gene name Erythrocyte membrane protein band 4.1 like 4B
Gene symbol EPB41L4B
Synonyms (NCBI Gene)
CG1EHM2LULU2
Chromosome 9
Chromosome location 9q31.3
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT002739 hsa-miR-1-3p Microarray 18668037
MIRT002739 hsa-miR-1-3p Microarray 15685193
MIRT658595 hsa-miR-6796-3p HITS-CLIP 23824327
MIRT658594 hsa-miR-141-5p HITS-CLIP 23824327
MIRT658593 hsa-miR-6814-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ERG Activation 20860828
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton TAS 10783258
GO:0005737 Component Cytoplasm IDA 23664528
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005856 Component Cytoskeleton IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610340 19818 ENSG00000095203
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H329
Protein name Band 4.1-like protein 4B (Erythrocyte membrane protein band 4.1-like 4B) (FERM-containing protein CG1) (Protein EHM2)
Protein function Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 89 152 FERM N-terminal domain Domain
PF00373 FERM_M 168 277 FERM central domain Domain
PF09380 FERM_C 281 373 FERM C-terminal PH-like domain Domain
PF08736 FA 379 420 FERM adjacent (FA) Family
Tissue specificity TISSUE SPECIFICITY: Expressed at higher levels in acute wounds than chronic wounds with increased expression in healing wounds, especially at the leading wound edge (PubMed:23664528). Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed i
Sequence
MLRFLRRTFGRRSMQRYARGAAGRGAAGLGDERDGGPRGGPAAAASSSALPAAPGGSVFP
AGGGPLLTGGAAVHISAAGAAKATLYCRVFLLDGTEVSVDLPKHAKGQDLFDQIVYHLDL
VETDYFGLQFLDSAQVAHWLDHAKPIKKQMKI
GPAYALHFRVKYYSSEPNNLREEFTRYL
FVLQLRHDILSGKLKCPYETAVELAALCLQAELGECELPEHTPELVSEFRFIPNQTEAME
FDIFQRWKECRGKSPAQAELSYLNKAKWLEMYGVDMH
VVRGRDGCEYSLGLTPTGILIFE
GANKIGLFFWPKITKMDFKKSKLTLVVVEDDDQGREQEHTFVFRLDSARTCKHLWKCAVE
HHAFFRLRTPGNS
KSNRSDFIRLGSRFRFSGRTEYQATHGSRLRRTSTFERKPSKRYPSR
RHSTFKASNPVIAAQLCSKTNPEVHNYQPQYHPNIHPSQPRWHPHSPNVSYPLPSPVLSS
SDRLPFGIEENGGTPFLTAASGRHHHQHQHQHQHQHHSNYSLSLTLENKEGPLRSPNSSS
KSLTKLSPGTPALFSEAAAHLKKLELETVKAAGPWPPLHININKAEEKKVSEKTLQTPLL
PSPVADHVKCNILKAQLENASRVNIQGGKEESPFVNINKKSSLQDASVRSPIPIRVETAQ
PAVEKPEIKPPRVRKLTRQYSFDEDDLPPDLAEAVGVTTSTTTNTTTAATQVSVPLPSPK
VQNVSSPHKSEGKGLLSPGAKSPSDRGGAFTLEPGDLLMDFTEATPLAEPASNPHCAHSR
CSPPLSLPMKEETTGVCMYPPIKTRLIKTFPVDTMNPFPDTFTTGPQFTADFRDSKLQCC
PGPTSPLIPAATLRPLTETVSTVQTIYTTRKPVSLAASAETLRQELEREKMMKRLLMTEL
Sequence length 900
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Tight junction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY THROMBOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30816447
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21047774
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21047774 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36422008 Inhibit
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 17980240
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease BEFREE 30367317
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 37843347 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37843347 Associate
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) Deafness BEFREE 9450185
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 17980240
★☆☆☆☆
Found in Text Mining only