Sptan1 MGI Mouse Gene Detail - MGI:98386 - spectrin alpha, non-erythrocytic 1

Symbol

Sptan1
Name

spectrin alpha, non-erythrocytic 1
Synonyms

2610027H02Rik, alpha-fodrin, alphaII-spectrin, Spna-2, Spna2

Feature Type

protein coding gene
IDs

MGI:98386
NCBI Gene: 20740
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr2:29855572-29921463 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 20.93 cM, cytoband B
Mapping Data

29 experiments

SNPs within 2kb

1232 from dbSNP Build 142
Strain Annotations

18
RFLP

7

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98386	protein coding gene	Chr2:29855572-29921463 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025549	protein coding gene	Chr2:28152212-28225341 (+)
A/J	MGP_AJ_G0025527	protein coding gene	Chr2:27039899-27106372 (+)
AKR/J	MGP_AKRJ_G0025496	protein coding gene	Chr2:27962440-28028886 (+)
BALB/cJ	MGP_BALBcJ_G0025522	protein coding gene	Chr2:27171060-27236741 (+)
C3H/HeJ	MGP_C3HHeJ_G0025284	protein coding gene	Chr2:27886927-27955504 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025967	protein coding gene	Chr2:29055677-29131401 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023376	protein coding gene	Chr2:25832550-25901932 (+)
CAST/EiJ	MGP_CASTEiJ_G0024747	protein coding gene	Chr2:27774287-27840399 (+)
CBA/J	MGP_CBAJ_G0025261	protein coding gene	Chr2:30065944-30133879 (+)
DBA/2J	MGP_DBA2J_G0025394	protein coding gene	Chr2:26835497-26901365 (+)
FVB/NJ	MGP_FVBNJ_G0025357	protein coding gene	Chr2:26640612-26707745 (+)
LP/J	MGP_LPJ_G0025480	protein coding gene	Chr2:28069788-28139706 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025387	protein coding gene	Chr2:29990202-30057459 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026026	protein coding gene	Chr2:27879047-27950031 (+)
PWK/PhJ	MGP_PWKPhJ_G0024493	protein coding gene	Chr2:26664705-26731884 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024293	protein coding gene	Chr2:27955547-28022907 (+)
WSB/EiJ	MGP_WSBEiJ_G0024815	protein coding gene	Chr2:27994606-28062982 (+)

Human Ortholog

SPTAN1, spectrin alpha, non-erythrocytic 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPTAN1, spectrin alpha, non-erythrocytic 1
Synonyms

DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2
Links

HGNC:11273

NCBI Gene ID: 6709

neXtProt AC: NX_Q13813

UniProt: Q13813
Chr Location

9q34.11; chr9:128552558-128633662 (+) GRCh38

MGI Vertebrate Homology

Sptan1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SPTAN1
Gene Tree

Sptan1

Diseases

2 with human SPTAN1 associations

				Human Disease	Mouse Models
				autosomal dominant distal hereditary motor neuronopathy 11 IDs autosomal dominant distal hereditary motor neuronopathy 11 DOID:0081400 OMIM:620528
				developmental and epileptic encephalopathy 5 IDs developmental and epileptic encephalopathy 5 DOID:0080438 OMIM:613477

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

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Phenotype Summary

38 phenotypes from 3 alleles in 4 genetic backgrounds
18 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

66
Endonuclease-mediated

4
Gene trapped

59
Targeted

3
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

130 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous deletion of the exons encoding the CCC region are normal. Mice homozygous for a gene trap allele exhibit embryonic lethality and abnormal nervous system, heart and craniofacial morphology.

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All GO Annotations

32
GO References

15

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

884
Tissues

34
cDNA Data

430
Literature Summary

23

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sptan1

ZFIN sptan1

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All Sequences

109
RefSeq

22
UniProt

16
CCDS

CCDS38094.2, CCDS50558.1, CCDS50559.1, CCDS89463.1

Ensembl

ENSMUSG00000057738 (Evidence)
NCBI Gene

20740

			Length	Strain/Species	Flank
genomic	20740	NCBI Gene Model \| MGI Sequence Detail	65892	C57BL/6J	± kb
transcript	NM_001309460	RefSeq \| MGI Sequence Detail	8102	ZRU/MplStud
polypeptide	P16546	UniProt \| EBI \| MGI Sequence Detail	2472	Not Applicable

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UniProt

16 Sequences
Protein Ontology

PR:000015591 spectrin alpha chain, non-erythrocytic 1

(term hierarchy)
InterPro Domains

IPR035825 Alpha Spectrin, SH3 domain

IPR018247 EF-Hand 1, calcium-binding site

IPR014837 EF-hand, Ca insensitive

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat
GlyGen

P16546 8 sites, 6 N-linked glycans (5 sites), 1 O-linked glycan (3 sites)

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All nucleic 434

cDNA 433

Other 1

Microarray probesets 4

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MGD-MRK-14536, MGD-MRK-14538, MGI:1923606

Summaries

All 118

Developmental Gene Expression 23

Gene Ontology 15

Phenotypes 18
Earliest

J:32042 Birkenmeier CS, et al., Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5671-5
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Sptan1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr17054	Chr2:29855327-29855340 (+)	-238 bp
Tssr17055	Chr2:29855681-29855700 (+)	119 bp
Tssr17056	Chr2:29856070-29856082 (+)	504 bp
Tssr17057	Chr2:29856377-29856401 (+)	817 bp
Tssr17058	Chr2:29874131-29874135 (+)	18,561 bp
Tssr17059	Chr2:29890009-29890024 (+)	34,445 bp
Tssr17060	Chr2:29908875-29908879 (+)	53,305 bp
Tssr17061	Chr2:29911070-29911074 (+)	55,500 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 11/12/2024 MGI 6.24