C2cd6 MGI Mouse Gene Detail - MGI:1920713 - C2 calcium dependent domain containing 6

Symbol

C2cd6
Name

C2 calcium dependent domain containing 6
Synonyms

1700052H20Rik, 4930408G06Rik, Als2cr11, Als2cr11b, C2cd6b, Gm33589

Feature Type

protein coding gene
IDs

MGI:1920713
NCBI Gene: 73463
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr1:59036275-59134059 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 29.20 cM, cytoband C2
Mapping Data

3 experiments

SNPs within 2kb

2056 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920713	protein coding gene	Chr1:59036275-59134283 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016061	protein coding gene	Chr1:58996563-59044742 (-)
A/J	MGP_AJ_G0016044	protein coding gene	Chr1:56945901-56989603 (-)
AKR/J	MGP_AKRJ_G0016000	protein coding gene	Chr1:58538426-58584400 (-)
BALB/cJ	MGP_BALBcJ_G0015999	protein coding gene	Chr1:56983938-57031962 (-)
C3H/HeJ	MGP_C3HHeJ_G0015831	protein coding gene	Chr1:58787430-58833712 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016452	protein coding gene	Chr1:61321479-61368187 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014173	protein coding gene	Chr1:52770822-52815690 (-)
CAST/EiJ	MGP_CASTEiJ_G0015413	protein coding gene	Chr1:57922857-57972329 (-)
CBA/J	MGP_CBAJ_G0015803	protein coding gene	Chr1:63241432-63290251 (-)
DBA/2J	MGP_DBA2J_G0015904	protein coding gene	Chr1:56368678-56414937 (-)
FVB/NJ	MGP_FVBNJ_G0015906	protein coding gene	Chr1:55673295-55718049 (-)
LP/J	MGP_LPJ_G0015976	protein coding gene	Chr1:59881685-59925953 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015926	protein coding gene	Chr1:66178882-66229091 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016499	protein coding gene	Chr1:58448460-58494289 (-)
PWK/PhJ	MGP_PWKPhJ_G0015200	protein coding gene	Chr1:55708758-55754027 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0014980	protein coding gene	Chr1:57972481-58021659 (-)
WSB/EiJ	MGP_WSBEiJ_G0015476	protein coding gene	Chr1:58151479-58198441 (-)

Human Ortholog

C2CD6, C2 calcium dependent domain containing 6

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

C2CD6, C2 calcium dependent domain containing 6
Synonyms

ALS2CR11, SPGF68
Links

HGNC:14438

NCBI Gene ID: 151254

neXtProt AC: NX_Q53TS8

UniProt: Q53TS8
Chr Location

2q33.1; chr2:201487421-201619178 (-) GRCh38

MGI Vertebrate Homology

C2cd6 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: C2CD6
Gene Tree

C2cd6

Diseases

1 with human C2CD6 associations

				Human Disease	Mouse Models
				spermatogenic failure 68 IDs spermatogenic failure 68 DOID:0070567 OMIM:619805

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

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
9 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

12
Chemically induced (other)

1
Endonuclease-mediated

4
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving C2cd6
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit male infertility associated with decreased hyperactivate sperm motility and reduced Cat Sper calcium channel capacity.

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All GO Annotations

15
GO References

3

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

706
cDNA Data

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

62
RefSeq

19
UniProt

6
CCDS

CCDS14982.2, CCDS87833.1

Ensembl

ENSMUSG00000072295 (Evidence)
NCBI Gene

73463

			Length	Strain/Species	Flank
genomic	ENSMUSG00000072295	Ensembl Gene Model \| MGI Sequence Detail	97785	C57BL/6J	± kb
transcript	ENSMUST00000238949	Ensembl \| MGI Sequence Detail	7029	Not Applicable
polypeptide	ENSMUSP00000159118	Ensembl \| MGI Sequence Detail	2282	Not Applicable

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UniProt

6 Sequences
InterPro Domains

IPR031462 Cation channel sperm-associated targeting subunit tau

IPR048363 Cation channel sperm-associated targeting subunit tau, C2 domain

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All nucleic 13

Genomic 3

cDNA 10

Microarray probesets 5

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MGI:1915429, MGI:5592748, MGI:5898370, MGI:5898371

Summaries

All 30

Gene Ontology 3

Phenotypes 9
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:321418 Hwang JY, et al., C2cd6-encoded CatSpertau targets sperm calcium channel to Ca(2+) signaling domains in the flagellar membrane. Cell Rep. 2022 Jan 18;38(3):110226

TSS for C2cd6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr11814	Chr1:59134073-59134079 (-)	-17 bp
Tssr11813	Chr1:59134044-59134062 (-)	6 bp
Tssr11812	Chr1:59123646-59123694 (-)	10,389 bp
Tssr11811	Chr1:59081723-59081728 (-)	52,333 bp
Tssr11810	Chr1:59053280-59053310 (-)	80,764 bp
Tssr11809	Chr1:59053265-59053274 (-)	80,789 bp
Tssr11808	Chr1:59053255-59053263 (-)	80,800 bp
Tssr11807	Chr1:59053245-59053252 (-)	80,810 bp
Tssr11806	Chr1:59053229-59053234 (-)	80,827 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