Col11a2 MGI Mouse Gene Detail - MGI:88447 - collagen, type XI, alpha 2

Symbol

Col11a2
Name

collagen, type XI, alpha 2

Feature Type

protein coding gene
IDs

MGI:88447
NCBI Gene: 12815
Alliance

genome feature page
Transcription Start Sites

11 TSS

Sequence Map

Chr17:34258411-34285659 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 17.98 cM
Mapping Data

5 experiments

SNPs within 2kb

4 from dbSNP Build 142
Strain Annotations

19
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88447	protein coding gene	Chr17:34257462-34285659 (+)
129S1/SvImJ	ENSMUSG00200053168	protein coding gene	Chr17:29961508-29988754 (+)
A/J	ENSMUSG00195042066	protein coding gene	Chr17:30825665-30853089 (+)
AKR/J	ENSMUSG00220051018	protein coding gene	Chr17:29853306-29880730 (+)
BALB/cJ	ENSMUSG00180028217	protein coding gene	Chr17:30214607-30241842 (+)
C3H/HeJ	ENSMUSG00175053096	protein coding gene	Chr17:29739497-29766917 (+)
C57BL/6NJ	ENSMUSG00215053728	protein coding gene	Chr17:29801675-29828925 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021440	protein coding gene	Chr17:30369189-30397615 (+)
CAST/EiJ	ENSTCUG00005049739	protein coding gene	Chr17:30784894-30812300 (+)
CBA/J	ENSMUSG00210048928	protein coding gene	Chr17:29561599-29589018 (+)
DBA/2J	ENSMUSG00185052990	protein coding gene	Chr17:32233913-32261138 (+)
FVB/NJ	ENSMUSG00205027464	protein coding gene	Chr17:30090350-30117985 (+)
JF1/MsJ	ENSUMUG00000019659	protein coding gene	Chr17:31494981-31522263 (+)
LP/J	ENSMUSG00230053661	protein coding gene	Chr17:33359859-33387106 (+)
NOD/ShiLtJ	ENSMUSG00190053502	protein coding gene	Chr17:29713502-29740735 (+)
NZO/HlLtJ	ENSMUSG00225052329	protein coding gene	Chr17:35401719-35429536 (+)
PWK/PhJ	ENSLUMG00010040938	protein coding gene	Chr17:29339940-29367173 (+)
SPRET/EiJ	ENSMSPG00010035112	protein coding gene	Chr17:30483173-30510496 (+)
WSB/EiJ	ENSIUOG00005049652	protein coding gene	Chr17:30413876-30441161 (+)

Human Ortholog

COL11A2, collagen type XI alpha 2 chain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL11A2, collagen type XI alpha 2 chain
Synonyms

DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
Links

HGNC:2187

NCBI Gene ID: 1302

UniProt: P13942
Chr Location

6p21.32; chr6:33162681-33193519 (-) GRCh38

MGI Vertebrate Homology

Col11a2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COL11A2
Gene Tree

Col11a2

Diseases

3 with Col11a2 mouse models; 7 with human COL11A2 associations

Human Disease

Mouse Models

autosomal dominant nonsyndromic deafness 13

IDs

View 1 model

otospondylomegaepiphyseal dysplasia, autosomal recessive

IDs

View 1 model

Stickler syndrome

IDs

View 1 model

autosomal recessive nonsyndromic deafness 53

IDs

cleft palate

IDs

fibrochondrogenesis 2

IDs

osteochondrodysplasia

IDs

otospondylomegaepiphyseal dysplasia, autosomal dominant

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

24 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

6
Endonuclease-mediated

2
Gene trapped

1
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

65 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones.

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All GO Annotations

29
GO References

12

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

759
Tissues

69
cDNA Data

47
Literature Summary

27

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase col11a2

ZFIN col11a2

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All Sequences

77
RefSeq

28
UniProt

3
CCDS

CCDS28640.1, CCDS89075.1

Ensembl

ENSMUSG00000024330 (Evidence)
NCBI Gene

12815

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024330	Ensembl Gene Model \| MGI Sequence Detail	27249	C57BL/6J	± kb
transcript	ENSMUST00000131134	Ensembl \| MGI Sequence Detail	5394	Not Applicable
polypeptide	ENSMUSP00000122082	Ensembl \| MGI Sequence Detail	1736	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005695 collagen alpha-2(XI) chain

(term hierarchy)
InterPro Domains

IPR050149 Collagen superfamily

IPR008160 Collagen triple helix repeat

IPR013320 Concanavalin A-like lectin/glucanase domain superfamily

IPR000885 Fibrillar collagen, C-terminal

IPR001791 Laminin G domain

IPR048287 Thrombospondin-like, N-terminal domain
GlyGen

Q64739 10 sites, 1 O-linked glycan (1 site)

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All nucleic 77

Genomic 15

cDNA 50

Primer pair 6

Other 6

Microarray probesets 2

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MGD-MRK-2054

Summaries

All 81

Developmental Gene Expression 27

Diseases 1

Gene Ontology 12

Phenotypes 13
Earliest

J:17944 Hanson IM, et al., Colinearity of novel genes in the class II regions of the MHC in mouse and human. Immunogenetics. 1991;34(1):5-11
Latest

J:346374 Ushiki A, et al., Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell Rep. 2024 Mar 8;43(3):113907

TSS for Col11a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143886	Chr17:34258115-34258127 (+)	-290 bp
Tssr143887	Chr17:34258140-34258156 (+)	-263 bp
Tssr143888	Chr17:34258202-34258229 (+)	-195 bp
Tssr5090	Chr17:34258271-34258280 (+)	-135 bp
Tssr5091	Chr17:34258308-34258318 (+)	-98 bp
Tssr143889	Chr17:34258436-34258455 (+)	35 bp
Tssr143890	Chr17:34267372-34267385 (+)	8,968 bp
Tssr143891	Chr17:34267391-34267399 (+)	8,984 bp
Tssr143892	Chr17:34267407-34267412 (+)	8,999 bp
Tssr143893	Chr17:34267418-34267430 (+)	9,013 bp
Tssr5092	Chr17:34274034-34274056 (+)	15,634 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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