Efcab6 MGI Mouse Gene Detail - MGI:1924877 - EF-hand calcium binding domain 6

Symbol

Efcab6
Name

EF-hand calcium binding domain 6
Synonyms

4931407K02Rik, 4932408N08Rik

Feature Type

protein coding gene
IDs

MGI:1924877
NCBI Gene: 77627
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr15:83750913-83949580 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 39.48 cM, cytoband E3
Mapping Data

2 experiments

SNPs within 2kb

5996 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924877	protein coding gene	Chr15:83750913-83959226 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022171	protein coding gene	Chr15:84606467-84813175 (-)
A/J	MGP_AJ_G0022130	protein coding gene	Chr15:81497276-81697254 (-)
AKR/J	MGP_AKRJ_G0022105	protein coding gene	Chr15:83871713-84075474 (-)
BALB/cJ	MGP_BALBcJ_G0022136	protein coding gene	Chr15:81640164-81839152 (-)
C3H/HeJ	MGP_C3HHeJ_G0021906	protein coding gene	Chr15:83825549-84029538 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022581	protein coding gene	Chr15:87849205-88062489 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020106	protein coding gene	Chr15:77867425-78065409 (-)
CAST/EiJ	MGP_CASTEiJ_G0021428	protein coding gene	Chr15:84606332-84818648 (-)
CBA/J	MGP_CBAJ_G0021873	protein coding gene	Chr15:90656733-90878581 (-)
DBA/2J	MGP_DBA2J_G0022000	protein coding gene	Chr15:80981825-81181628 (-)
FVB/NJ	MGP_FVBNJ_G0021979	protein coding gene	Chr15:80033398-80235178 (-)
LP/J	MGP_LPJ_G0022071	protein coding gene	Chr15:84767964-84979985 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021999	protein coding gene	Chr15:95518249-95726004 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022596	protein coding gene	Chr15:83873446-84081680 (-)
PWK/PhJ	MGP_PWKPhJ_G0021169	protein coding gene	Chr15:80975399-81173789 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021003	protein coding gene	Chr15:83603743-83792912 (-)
WSB/EiJ	MGP_WSBEiJ_G0021477	protein coding gene	Chr15:84378325-84584510 (-)

Human Ortholog

EFCAB6, EF-hand calcium binding domain 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFCAB6, EF-hand calcium binding domain 6
Synonyms

dJ185D5.1, DJBP, HSCBCIP1
Links

HGNC:24204

NCBI Gene ID: 64800

neXtProt AC: NX_Q5THR3

UniProt: Q5THR3
Chr Location

22q13.2-q13.31; chr22:43528744-43812337 (-) GRCh38

MGI Vertebrate Homology

Efcab6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EFCAB6
Gene Tree

Efcab6

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References

1 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
25 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

7
Chemically induced (other)

1
Radiation induced

2
Targeted

4
Genomic Mutations

3 involving Efcab6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

60 strains or lines available

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All GO Annotations

7
GO References

7

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

728
Tissues

15
cDNA Data

24
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase efcab6

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All Sequences

71
RefSeq

30
UniProt

2
CCDS

CCDS27707.2

Ensembl

ENSMUSG00000022441 (Evidence)
NCBI Gene

77627

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022441	Ensembl Gene Model \| MGI Sequence Detail	198668	C57BL/6J	± kb
transcript	ENSMUST00000156187	Ensembl \| MGI Sequence Detail	5012	Not Applicable
polypeptide	ENSMUSP00000114909	Ensembl \| MGI Sequence Detail	1516	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000006912 EF-hand calcium-binding domain-containing protein 6

(term hierarchy)
PDB

8I7O, 8I7R, 8IYJ, 8TO0
InterPro Domains

IPR015070 DJBP, EF-hand domain

IPR018247 EF-Hand 1, calcium-binding site

IPR052603 EF-hand calcium-binding domain-containing protein 6

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

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All nucleic 24

cDNA 24

Microarray probesets 5

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MGI:1921618

Summaries

All 53

Developmental Gene Expression 1

Diseases 1

Gene Ontology 7

Phenotypes 25
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

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

TSS for Efcab6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr135701	Chr15:83949530-83949565 (-)	32 bp
Tssr135700	Chr15:83939304-83939311 (-)	10,272 bp
Tssr135699	Chr15:83939272-83939300 (-)	10,294 bp
Tssr135698	Chr15:83820283-83820305 (-)	129,286 bp
Tssr135697	Chr15:83820275-83820282 (-)	129,301 bp
Tssr135696	Chr15:83804372-83804390 (-)	145,199 bp
Tssr135695	Chr15:83803593-83803600 (-)	145,983 bp
Tssr135694	Chr15:83803565-83803588 (-)	146,003 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 12/10/2024 MGI 6.24