Tspear MGI Mouse Gene Detail - MGI:2671932 - thrombospondin type laminin G domain and EAR repeats

Symbol

Tspear
Name

thrombospondin type laminin G domain and EAR repeats
Synonyms

C330046G03Rik, ORF65

Feature Type

protein coding gene
IDs

MGI:2671932
NCBI Gene: 252974
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr10:77522403-77722855 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

1 experiment

SNPs within 2kb

5146 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2671932	protein coding gene	Chr10:77521942-77722855 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017409	protein coding gene	Chr10:78213677-78284484 (+)
A/J	MGP_AJ_G0017387	protein coding gene	Chr10:75510325-75578840 (+)
AKR/J	MGP_AKRJ_G0017350	protein coding gene	Chr10:77537305-77600866 (+)
BALB/cJ	MGP_BALBcJ_G0017349	protein coding gene	Chr10:75692062-75749548 (+)
C3H/HeJ	MGP_C3HHeJ_G0017171	protein coding gene	Chr10:77617013-77684073 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017805	protein coding gene	Chr10:80977988-81067825 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015496	protein coding gene	Chr10:71873261-71931265 (+)
CAST/EiJ	MGP_CASTEiJ_G0016742	protein coding gene	Chr10:77945375-78010525 (+)
CBA/J	MGP_CBAJ_G0017143	protein coding gene	Chr10:84055765-84135074 (+)
DBA/2J	MGP_DBA2J_G0017252	protein coding gene	Chr10:74758202-74820241 (+)
FVB/NJ	MGP_FVBNJ_G0017244	protein coding gene	Chr10:73929881-73991877 (+)
LP/J	MGP_LPJ_G0017323	protein coding gene	Chr10:78662057-78726707 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017271	protein coding gene	Chr10:86079178-86145491 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017847	protein coding gene	Chr10:77576451-77635570 (+)
PWK/PhJ	MGP_PWKPhJ_G0016523	protein coding gene	Chr10:74644519-74705526 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016308	protein coding gene	Chr10:76784579-76852943 (+)
WSB/EiJ	MGP_WSBEiJ_G0016802	protein coding gene	Chr10:77551444-77616091 (+)

Human Ortholog

TSPEAR, thrombospondin type laminin G domain and EAR repeats

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TSPEAR, thrombospondin type laminin G domain and EAR repeats
Synonyms

C21orf29, DFNB98, ECTD14, STHAG10, TSP-EAR
Links

HGNC:1268

NCBI Gene ID: 54084

neXtProt AC: NX_Q8WU66

UniProt: Q8WU66
Chr Location

21q22.3; chr21:44497893-44711572 (-) GRCh38

MGI Vertebrate Homology

Tspear stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TSPEAR
Gene Tree

Tspear

Diseases

3 with human TSPEAR associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 98 IDs autosomal recessive nonsyndromic deafness 98 DOID:0110540 ICD10CM:H90.3 OMIM:614861
				ectodermal dysplasia 14 IDs ectodermal dysplasia 14 DOID:0111662 OMIM:618180
				tooth agenesis IDs tooth agenesis DOID:0050591 ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 NCI:C172328 OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600 ORDO:2227 ORDO:99798 UMLS_CUI:C0399352

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

References

2 with disease annotations

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Phenotype Summary

33 phenotype references

All Mutations and Alleles

8
Chemically induced (other)

1
Endonuclease-mediated

1
Targeted

6
Genomic Mutations

4 involving Tspear
Incidental Mutations

APF
Find Mice (IMSR)

35 strains or lines available

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All GO Annotations

13
GO References

7

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

745
Tissues

33
cDNA Data

6
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

42
RefSeq

14
UniProt

1
CCDS

CCDS83718.1

Ensembl

ENSMUSG00000069581 (Evidence)
NCBI Gene

252974

			Length	Strain/Species	Flank
genomic	ENSMUSG00000069581	Ensembl Gene Model \| MGI Sequence Detail	200453	C57BL/6J	± kb
transcript	ENSMUST00000092366	Ensembl \| MGI Sequence Detail	2446	Not Applicable
polypeptide	ENSMUSP00000090020	Ensembl \| MGI Sequence Detail	670	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000016756 protein TSPEAR

(term hierarchy)
InterPro Domains

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR009039 EAR

IPR005492 Leucine-rich glioma-inactivated , EPTP repeat

IPR048287 Thrombospondin-like, N-terminal domain
GlyGen

J3S6Y1 1 site

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All nucleic 8

cDNA 6

Primer pair 2

Microarray probesets 1

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MGI:2652696

Summaries

All 57

Developmental Gene Expression 3

Diseases 2

Gene Ontology 7

Phenotypes 33
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599

TSS for Tspear:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94279	Chr10:77521926-77521930 (+)	-475 bp
Tssr94280	Chr10:77522431-77522442 (+)	34 bp
Tssr94289	Chr10:77673315-77673317 (+)	150,913 bp
Tssr94290	Chr10:77673400-77673405 (+)	151,000 bp
Tssr94291	Chr10:77673418-77673427 (+)	151,020 bp
Tssr94292	Chr10:77673451-77673458 (+)	151,052 bp
Tssr94293	Chr10:77673499-77673508 (+)	151,101 bp
Tssr94294	Chr10:77673662-77673667 (+)	151,262 bp
Tssr94295	Chr10:77674188-77674200 (+)	151,791 bp
Tssr94299	Chr10:77700441-77700477 (+)	178,056 bp
Tssr3264	Chr10:77710408-77710411 (+)	188,007 bp
Tssr3265	Chr10:77715917-77715920 (+)	193,516 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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