Epb41l4a MGI Mouse Gene Detail - MGI:103007 - erythrocyte membrane protein band 4.1 like 4a

Symbol

Epb41l4a
Name

erythrocyte membrane protein band 4.1 like 4a
Synonyms

Epb4.1l4a, NBL4

Feature Type

protein coding gene
IDs

MGI:103007
NCBI Gene: 13824
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr18:33929380-34140019 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 18.19 cM
Mapping Data

1 experiment

SNPs within 2kb

8208 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103007	protein coding gene	Chr18:33929380-34143678 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024235	protein coding gene	Chr18:31974667-32190150 (-)
A/J	MGP_AJ_G0024201	protein coding gene	Chr18:30887004-31098489 (-)
AKR/J	MGP_AKRJ_G0024170	protein coding gene	Chr18:31749808-31962525 (-)
BALB/cJ	MGP_BALBcJ_G0024201	protein coding gene	Chr18:30953772-31164113 (-)
C3H/HeJ	MGP_C3HHeJ_G0023969	protein coding gene	Chr18:31793382-32012749 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024643	protein coding gene	Chr18:33187980-33417991 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022084	protein coding gene	Chr18:31056867-31263223 (-)
CAST/EiJ	MGP_CASTEiJ_G0023444	protein coding gene	Chr18:31639280-31934807 (-)
CBA/J	MGP_CBAJ_G0023937	protein coding gene	Chr18:34076076-34313912 (-)
DBA/2J	MGP_DBA2J_G0024069	protein coding gene	Chr18:30555347-30764166 (-)
FVB/NJ	MGP_FVBNJ_G0024035	protein coding gene	Chr18:30250493-30460711 (-)
LP/J	MGP_LPJ_G0024150	protein coding gene	Chr18:32049224-32267629 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024063	protein coding gene	Chr18:35421111-35643933 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024691	protein coding gene	Chr18:31592086-31811900 (-)
PWK/PhJ	MGP_PWKPhJ_G0023187	protein coding gene	Chr18:30739525-30953993 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022996	protein coding gene	Chr18:31865349-32083082 (-)
WSB/EiJ	MGP_WSBEiJ_G0023507	protein coding gene	Chr18:31517954-31737799 (-)

Human Ortholog

EPB41L4A, erythrocyte membrane protein band 4.1 like 4A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPB41L4A, erythrocyte membrane protein band 4.1 like 4A
Synonyms

EPB41L4, NBL4
Links

HGNC:13278

NCBI Gene ID: 64097

UniProt: Q9HCS5
Chr Location

5q22.1-q22.2; chr5:112141829-112419935 (-) GRCh38

MGI Vertebrate Homology

Epb41l4a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EPB41L4A
Gene Tree

Epb41l4a

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

418
Endonuclease-mediated

1
Gene trapped

414
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

408 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

7
GO References

5

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

971
Tissues

54
cDNA Data

67
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase epb41l4a

ZFIN epb41l4a

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All Sequences

68
RefSeq

22
UniProt

2
CCDS

CCDS29124.1

Ensembl

ENSMUSG00000024376 (Evidence)
NCBI Gene

13824

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024376	Ensembl Gene Model \| MGI Sequence Detail	210640	C57BL/6J	± kb
transcript	ENSMUST00000025234	Ensembl \| MGI Sequence Detail	3566	Not Applicable
polypeptide	ENSMUSP00000025234	Ensembl \| MGI Sequence Detail	686	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007111 band 4.1-like protein 4A

(term hierarchy)
InterPro Domains

IPR019749 Band 4.1 domain

IPR030696 Band 4.1-like protein 4A, FERM domain, F1 sub-domain

IPR000798 Ezrin/radixin/moesin-like

IPR014352 FERM/acyl-CoA-binding protein superfamily

IPR014847 FERM adjacent

IPR019748 FERM central domain

IPR019747 FERM conserved site

IPR018980 FERM, C-terminal PH-like domain

IPR000299 FERM domain

IPR018979 FERM, N-terminal

IPR035963 FERM superfamily, second domain

IPR011993 PH-like domain superfamily

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 67

cDNA 67

Microarray probesets 5

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MGD-MRK-23844

Summaries

All 40

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 13
Earliest

J:19489 Takeuchi K, et al., Structural diversity of band 4.1 superfamily members. J Cell Sci. 1994 Jul;107(Pt 7):1921-8
Latest

J:357537 Salnikov P, et al., Structural variants in the Epb41l4a locus: TAD disruption and Nrep gene misregulation as hypothetical drivers of neurodevelopmental outcomes. Sci Rep. 2024 Mar 4;14(1):5288

TSS for Epb41l4a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152784	Chr18:34140501-34140537 (-)	-500 bp
Tssr152783	Chr18:34140307-34140414 (-)	-342 bp
Tssr152782	Chr18:34140079-34140110 (-)	-76 bp
Tssr152781	Chr18:34139974-34140042 (-)	11 bp
Tssr152780	Chr18:34139593-34139635 (-)	405 bp
Tssr152779	Chr18:34025047-34025082 (-)	114,954 bp
Tssr152778	Chr18:34024681-34024719 (-)	115,319 bp
Tssr152777	Chr18:34024527-34024565 (-)	115,473 bp
Tssr152776	Chr18:34023619-34023641 (-)	116,389 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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