Efcab2 MGI Mouse Gene Detail - MGI:1915476 - EF-hand calcium binding domain 2

Symbol

Efcab2
Name

EF-hand calcium binding domain 2
Synonyms

1700073K01Rik, D830011E08Rik

Feature Type

protein coding gene
IDs

MGI:1915476
NCBI Gene: 68226
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr1:178233650-178312078 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 83.16 cM, cytoband H3
Mapping Data

2 experiments

SNPs within 2kb

1600 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915476	protein coding gene	Chr1:178233583-178312078 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016856	protein coding gene	Chr1:184704305-184790071 (+)
A/J	MGP_AJ_G0016834	protein coding gene	Chr1:177267786-177346423 (+)
AKR/J	MGP_AKRJ_G0016800	protein coding gene	Chr1:182549684-182637953 (+)
BALB/cJ	MGP_BALBcJ_G0016792	protein coding gene	Chr1:177899514-177976043 (+)
C3H/HeJ	MGP_C3HHeJ_G0016617	protein coding gene	Chr1:183289780-183370798 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017256	protein coding gene	Chr1:190711094-190798347 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014963	protein coding gene	Chr1:168279325-168358856 (+)
CAST/EiJ	MGP_CASTEiJ_G0016198	protein coding gene	Chr1:182571630-182669685 (+)
CBA/J	MGP_CBAJ_G0016591	protein coding gene	Chr1:197809364-197914253 (+)
DBA/2J	MGP_DBA2J_G0016697	protein coding gene	Chr1:176125889-176208906 (+)
FVB/NJ	MGP_FVBNJ_G0016693	protein coding gene	Chr1:174203476-174282961 (+)
LP/J	MGP_LPJ_G0016771	protein coding gene	Chr1:185981731-186066729 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016724	protein coding gene	Chr1:204985498-205101017 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017292	protein coding gene	Chr1:182274206-182357310 (+)
PWK/PhJ	MGP_PWKPhJ_G0015986	protein coding gene	Chr1:175188390-175269630 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015762	protein coding gene	Chr1:181226492-181306924 (+)
WSB/EiJ	MGP_WSBEiJ_G0016261	protein coding gene	Chr1:182493797-182576826 (+)

Human Ortholog

EFCAB2, EF-hand calcium binding domain 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFCAB2, EF-hand calcium binding domain 2
Synonyms

CFAP200, DRC8
Links

HGNC:28166

NCBI Gene ID: 84288

neXtProt AC: NX_Q5VUJ9

UniProt: Q5VUJ9
Chr Location

1q44; chr1:244969682-245127164 (+) GRCh38

MGI Vertebrate Homology

Efcab2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EFCAB2
Gene Tree

Efcab2

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
14 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

24
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

17
Targeted

3
Genomic Mutations

2 involving Efcab2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

5
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

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

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

826
Tissues

33
cDNA Data

20
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase efcab2

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All Sequences

36
RefSeq

2
UniProt

1
CCDS

CCDS15557.1

Ensembl

ENSMUSG00000026495 (Evidence)
NCBI Gene

68226

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026495	Ensembl Gene Model \| MGI Sequence Detail	78429	C57BL/6J	± kb
transcript	ENSMUST00000027775	Ensembl \| MGI Sequence Detail	3580	Not Applicable
polypeptide	ENSMUSP00000027775	Ensembl \| MGI Sequence Detail	164	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000032739 dynein regulatory complex protein 8

(term hierarchy)
InterPro Domains

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

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All nucleic 20

cDNA 20

Microarray probesets 4

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MGI:2441989

Summaries

All 41

Developmental Gene Expression 4

Gene Ontology 3

Phenotypes 14
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Efcab2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10392	Chr1:178233582-178233585 (+)	-66 bp
Tssr10393	Chr1:178233596-178233599 (+)	-52 bp
Tssr10394	Chr1:178233603-178233610 (+)	-43 bp
Tssr10395	Chr1:178233617-178233635 (+)	-24 bp
Tssr10396	Chr1:178233637-178233670 (+)	4 bp
Tssr10397	Chr1:178234060-178234125 (+)	443 bp
Tssr10398	Chr1:178276171-178276180 (+)	42,526 bp
Tssr10399	Chr1:178276191-178276213 (+)	42,552 bp
Tssr10400	Chr1:178276223-178276266 (+)	42,595 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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