Sptb MGI Mouse Gene Detail - MGI:98387 - spectrin beta, erythrocytic

Symbol

Sptb
Name

spectrin beta, erythrocytic
Synonyms

brain erythroid spectrin (235E), D330027P03Rik, LOC383567, spectrin R, Spnb-1, Spnb1

Feature Type

protein coding gene
IDs

MGI:98387
NCBI Gene: 20741
Alliance

genome feature page
Transcription Start Sites

19 TSS

Sequence Map

Chr12:76627262-76757321 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 33.73 cM
Mapping Data

17 experiments

SNPs within 2kb

3429 from dbSNP Build 142
Strain Annotations

19
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98387	protein coding gene	Chr12:76627262-76757321 (-)
129S1/SvImJ	ENSMUSG00200029484	protein coding gene	Chr12:68572925-68703264 (-)
A/J	ENSMUSG00195032826	protein coding gene	Chr12:71285150-71412774 (-)
AKR/J	ENSMUSG00220014934	protein coding gene	Chr12:69043516-69173603 (-)
BALB/cJ	ENSMUSG00180030181	protein coding gene	Chr12:70245825-70375884 (-)
C3H/HeJ	ENSMUSG00175034019	protein coding gene	Chr12:73412842-73540458 (-)
C57BL/6NJ	ENSMUSG00215028950	protein coding gene	Chr12:69623967-69754035 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017869	protein coding gene	Chr12:71129274-71260494 (-)
CAST/EiJ	ENSTCUG00005030247	protein coding gene	Chr12:69605453-69733294 (-)
CBA/J	ENSMUSG00210029278	protein coding gene	Chr12:69832216-69959837 (-)
DBA/2J	ENSMUSG00185037537	protein coding gene	Chr12:71696505-71826570 (-)
FVB/NJ	ENSMUSG00205027512	protein coding gene	Chr12:69459950-69587802 (-)
JF1/MsJ	ENSUMUG00000010275	protein coding gene	Chr12:75733236-75860628 (-)
LP/J	ENSMUSG00230020035	protein coding gene	Chr12:78696675-78826996 (-)
NOD/ShiLtJ	ENSMUSG00190012021	protein coding gene	Chr12:68883388-69013450 (-)
NZO/HlLtJ	ENSMUSG00225037048	protein coding gene	Chr12:80758554-80888871 (-)
PWK/PhJ	ENSLUMG00010028090	protein coding gene	Chr12:69762942-69890230 (-)
SPRET/EiJ	ENSMSPG00010018770	protein coding gene	Chr12:71533377-71660661 (-)
WSB/EiJ	ENSIUOG00005011989	protein coding gene	Chr12:69524519-69652178 (-)

Human Ortholog

SPTB, spectrin beta, erythrocytic

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPTB, spectrin beta, erythrocytic
Synonyms

EL3, HS2, HSPTB1, SPH2
Links

HGNC:11274

NCBI Gene ID: 6710

UniProt: P11277
Chr Location

14q23.3; chr14:64746283-64879907 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SPTB
Protein SuperFamily

Spectrin_beta_subunit
Gene Tree

Sptb

Diseases

2 with human SPTB associations

				Human Disease	Mouse Models
				hereditary spherocytosis IDs hereditary spherocytosis DOID:12971 ICD10CM:D58.0 ICD9CM:282.0 MESH:D013103 NCI:C97074 ORDO:822 UMLS_CUI:C0037889
				hereditary spherocytosis type 2 IDs hereditary spherocytosis type 2 DOID:0110917 OMIM:616649

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

64 phenotypes from 3 alleles in 5 genetic backgrounds
1 images
26 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

9
Chemically induced (other)

1
Endonuclease-mediated

2
Spontaneous

2
Targeted

4
Genomic Mutations

1 involving Sptb
Incidental Mutations

APF
Find Mice (IMSR)

86 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly and jaundice and die within a few days of birth. Homozygotes for a knock-out allele show complete embryonic lethality before implantation. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture, never forming outgrowths.

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All GO Annotations

35
GO References

13

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

633
Tissues

7
cDNA Data

50
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sptb

ZFIN sptb

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All Sequences

51
RefSeq

2
UniProt

9
CCDS

CCDS36477.1

Ensembl

ENSMUSG00000021061 (Evidence)
NCBI Gene

20741

			Length	Strain/Species	Flank
genomic	20741	NCBI Gene Model \| MGI Sequence Detail	130060	C57BL/6J	± kb
transcript	NM_013675	RefSeq \| MGI Sequence Detail	10417	ZRU/MplStud
polypeptide	P15508	UniProt \| EBI \| MGI Sequence Detail	2128	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000015592 spectrin beta chain, erythrocytic

(term hierarchy)
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR041681 Pleckstrin homology domain 9

IPR001605 Pleckstrin homology domain, spectrin-type

IPR018159 Spectrin/alpha-actinin

IPR016343 Spectrin, beta subunit

IPR002017 Spectrin repeat
GlyGen

P15508 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 58

Genomic 2

cDNA 50

Primer pair 2

Other 4

Antibodies 1

Microarray probesets 4

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MGD-MRK-11515, MGD-MRK-14539, MGD-MRK-14541, MGI:2144894, MGI:2686147

Summaries

All 88

Developmental Gene Expression 7

Gene Ontology 13

Phenotypes 26
Earliest

J:305 Stevens LC, et al., A mutation causing neonatal jaundice in the house mouse. J Hered. 1959;50(1):35-9
Latest

J:389866 Kim JA, et al., HAP1 interaction with KCNQ4 attenuates channel surface expression and function. Mol Cells. 2026 Mar;49(3):100322

TSS for Sptb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr116750	Chr12:76756894-76756927 (-)	410 bp
Tssr116749	Chr12:76756869-76756881 (-)	446 bp
Tssr116748	Chr12:76756851-76756862 (-)	464 bp
Tssr116747	Chr12:76756803-76756828 (-)	505 bp
Tssr116746	Chr12:76756771-76756800 (-)	535 bp
Tssr116745	Chr12:76756729-76756769 (-)	572 bp
Tssr116744	Chr12:76715470-76715483 (-)	41,844 bp
Tssr116743	Chr12:76690693-76690696 (-)	66,626 bp
Tssr116742	Chr12:76690593-76690609 (-)	66,720 bp
Tssr116741	Chr12:76690537-76690549 (-)	66,778 bp
Tssr116740	Chr12:76690502-76690517 (-)	66,811 bp
Tssr116739	Chr12:76659482-76659502 (-)	97,829 bp
Tssr116738	Chr12:76659452-76659475 (-)	97,857 bp
Tssr116737	Chr12:76659436-76659443 (-)	97,881 bp
Tssr116736	Chr12:76659421-76659434 (-)	97,893 bp
Tssr116735	Chr12:76656185-76656191 (-)	101,133 bp
Tssr116734	Chr12:76644364-76644393 (-)	112,942 bp
Tssr116733	Chr12:76644174-76644186 (-)	113,141 bp
Tssr116732	Chr12:76643475-76643496 (-)	113,835 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/01/2026 MGI 6.24