Tmcc2 MGI Mouse Gene Detail - MGI:1916125 - transmembrane and coiled-coil domains 2

Symbol

Tmcc2
Name

transmembrane and coiled-coil domains 2
Synonyms

1110063G11Rik

Feature Type

protein coding gene
IDs

MGI:1916125
NCBI Gene: 68875
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr1:132284053-132319019 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 57.24 cM
Mapping Data

1 experiment

SNPs within 2kb

208 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916125	protein coding gene	Chr1:132284053-132319661 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016471	protein coding gene	Chr1:135834721-135870868 (-)
A/J	MGP_AJ_G0016454	protein coding gene	Chr1:130799996-130834726 (-)
AKR/J	MGP_AKRJ_G0016419	protein coding gene	Chr1:134647613-134683006 (-)
BALB/cJ	MGP_BALBcJ_G0016414	protein coding gene	Chr1:131132417-131167172 (-)
C3H/HeJ	MGP_C3HHeJ_G0016240	protein coding gene	Chr1:134795819-134831096 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016875	protein coding gene	Chr1:140876862-140911673 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014586	protein coding gene	Chr1:123944832-123980326 (-)
CAST/EiJ	MGP_CASTEiJ_G0015820	protein coding gene	Chr1:133792434-133829969 (-)
CBA/J	MGP_CBAJ_G0016212	protein coding gene	Chr1:145680178-145719869 (-)
DBA/2J	MGP_DBA2J_G0016319	protein coding gene	Chr1:129765395-129800911 (-)
FVB/NJ	MGP_FVBNJ_G0016318	protein coding gene	Chr1:128395151-128430469 (-)
LP/J	MGP_LPJ_G0016390	protein coding gene	Chr1:137141968-137178557 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016343	protein coding gene	Chr1:151481571-151517559 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016911	protein coding gene	Chr1:134399906-134435962 (-)
PWK/PhJ	MGP_PWKPhJ_G0015606	protein coding gene	Chr1:128754684-128789469 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015393	protein coding gene	Chr1:133365111-133402111 (-)
WSB/EiJ	MGP_WSBEiJ_G0015882	protein coding gene	Chr1:134400045-134435708 (-)

Human Ortholog

TMCC2, transmembrane and coiled-coil domain family 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMCC2, transmembrane and coiled-coil domain family 2
Synonyms

HUCEP11
Links

HGNC:24239

NCBI Gene ID: 9911

neXtProt AC: NX_O75069

UniProt: O75069
Chr Location

1q32.1; chr1:205227946-205285632 (+) GRCh38

MGI Vertebrate Homology

Tmcc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMCC2
Gene Tree

Tmcc2

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Phenotype Summary

33 phenotypes from 2 alleles in 2 genetic backgrounds
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

10
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

1
Radiation induced

1
Targeted

2
Genomic Mutations

3 involving Tmcc2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit impaired erythropoiesis with severe postnatal macrocytic anemia.

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All GO Annotations

5
GO References

3

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	non-membrane-bounded 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

709
Tissues

2
cDNA Data

69
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmcc2

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All Sequences

64
RefSeq

10
UniProt

5
CCDS

CCDS15284.1, CCDS78681.1, CCDS78682.1

Ensembl

ENSMUSG00000042066 (Evidence)
NCBI Gene

68875

			Length	Strain/Species	Flank
genomic	ENSMUSG00000042066	Ensembl Gene Model \| MGI Sequence Detail	34967	C57BL/6J	± kb
transcript	ENSMUST00000045473	Ensembl \| MGI Sequence Detail	3410	Not Applicable
polypeptide	ENSMUSP00000038369	Ensembl \| MGI Sequence Detail	706	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000031297 transmembrane and coiled-coil domains protein 2

(term hierarchy)
InterPro Domains

IPR019394 Testis-specific protein TEX28/transmembrane and coiled-coil domains protein

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All nucleic 70

cDNA 69

Primer pair 1

Microarray probesets 4

Summaries

All 37

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 13
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:336762 Ren R, et al., Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death. Hum Mol Genet. 2023 May 5;32(10):1622-1633

TSS for Tmcc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr13649	Chr1:132319544-132319560 (-)	-533 bp
Tssr13648	Chr1:132319505-132319543 (-)	-505 bp
Tssr13647	Chr1:132319435-132319500 (-)	-449 bp
Tssr13646	Chr1:132319396-132319420 (-)	-389 bp
Tssr13645	Chr1:132318262-132318267 (-)	754 bp
Tssr13644	Chr1:132318039-132318111 (-)	944 bp
Tssr13643	Chr1:132312514-132312518 (-)	6,503 bp
Tssr13642	Chr1:132295617-132295632 (-)	23,394 bp
Tssr13641	Chr1:132294807-132294822 (-)	24,204 bp
Tssr13640	Chr1:132288837-132288885 (-)	30,158 bp
Tssr13639	Chr1:132288409-132288421 (-)	30,604 bp
Tssr13638	Chr1:132288053-132288079 (-)	30,953 bp
Tssr13637	Chr1:132286638-132286641 (-)	32,379 bp
Tssr13636	Chr1:132285981-132285994 (-)	33,031 bp
Tssr13635	Chr1:132285362-132285398 (-)	33,639 bp
Tssr13634	Chr1:132285279-132285293 (-)	33,733 bp
Tssr13633	Chr1:132285213-132285240 (-)	33,792 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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