Ccdc88a MGI Mouse Gene Detail - MGI:1925177 - coiled coil domain containing 88A

Symbol

Ccdc88a
Name

coiled coil domain containing 88A
Synonyms

A430106J12Rik, C130096N06Rik, C330012F17Rik, D130005J21Rik, Girdin, GIV, HkRP1, mKIAA1212

Feature Type

protein coding gene
IDs

MGI:1925177
NCBI Gene: 108686
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr11:29323658-29460808 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 16.61 cM
Mapping Data

2 experiments

SNPs within 2kb

2408 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925177	protein coding gene	Chr11:29323521-29460808 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018106	protein coding gene	Chr11:27367848-27515536 (+)
A/J	MGP_AJ_G0018078	protein coding gene	Chr11:26370880-26504131 (+)
AKR/J	MGP_AKRJ_G0018043	protein coding gene	Chr11:27229677-27366968 (+)
BALB/cJ	MGP_BALBcJ_G0018046	protein coding gene	Chr11:26575894-26708271 (+)
C3H/HeJ	MGP_C3HHeJ_G0017860	protein coding gene	Chr11:27140223-27277083 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018499	protein coding gene	Chr11:28321208-28461657 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016156	protein coding gene	Chr11:25011531-25147885 (+)
CAST/EiJ	MGP_CASTEiJ_G0017422	protein coding gene	Chr11:27184087-27336706 (+)
CBA/J	MGP_CBAJ_G0017834	protein coding gene	Chr11:29645167-29805032 (+)
DBA/2J	MGP_DBA2J_G0017944	protein coding gene	Chr11:26227603-26363836 (+)
FVB/NJ	MGP_FVBNJ_G0017936	protein coding gene	Chr11:26031064-26163026 (+)
LP/J	MGP_LPJ_G0018016	protein coding gene	Chr11:27641119-27775300 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017962	protein coding gene	Chr11:30714401-30889300 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018539	protein coding gene	Chr11:27333935-27463481 (+)
PWK/PhJ	MGP_PWKPhJ_G0017204	protein coding gene	Chr11:26315934-26455540 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016999	protein coding gene	Chr11:27014594-27153113 (+)
WSB/EiJ	MGP_WSBEiJ_G0017475	protein coding gene	Chr11:27032222-27167354 (+)

Human Ortholog

CCDC88A, coiled-coil domain containing 88A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CCDC88A, coiled-coil domain containing 88A
Synonyms

APE, GIRDIN, GIV, GRDN, HkRP1, KIAA1212, PEHO, PEHOL
Links

HGNC:25523

NCBI Gene ID: 55704

neXtProt AC: NX_Q3V6T2

UniProt: Q3V6T2
Chr Location

2p16.1; chr2:55287842-55419895 (-) GRCh38

MGI Vertebrate Homology

Ccdc88a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CCDC88A
Gene Tree

Ccdc88a

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Phenotype Summary

36 phenotypes from 4 alleles in 3 genetic backgrounds
23 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)

1
Gene trapped

3
Targeted

6
Genomic Mutations

1 involving Ccdc88a
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

76 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25.

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All GO Annotations

78
GO References

11

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	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

749
Tissues

28
cDNA Data

26
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CCDC88A

Xenbase ccdc88a

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All Sequences

100
RefSeq

28
UniProt

6
CCDS

CCDS24494.1

Ensembl

ENSMUSG00000032740 (Evidence)
NCBI Gene

108686

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032740	Ensembl Gene Model \| MGI Sequence Detail	137151	C57BL/6J	± kb
transcript	ENSMUST00000239407	Ensembl \| MGI Sequence Detail	6051	Not Applicable
polypeptide	ENSMUSP00000159356	Ensembl \| MGI Sequence Detail	2016	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000005105 girdin

(term hierarchy)
InterPro Domains

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR043936 HOOK, N-terminal
GlyGen

Q5SNZ0 2 sites, 2 N-linked glycans (2 sites)

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All nucleic 28

cDNA 27

Primer pair 1

Microarray probesets 7

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MGI:1915538, MGI:2144295, MGI:2442608, MGI:2443604

Summaries

All 59

Developmental Gene Expression 4

Gene Ontology 11

Phenotypes 23
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:335041 Wang H, et al., The signaling protein GIV/Girdin mediates the Nephrin-dependent insulin secretion of pancreatic islet beta cells in response to high glucose. J Biol Chem. 2023 Feb 21;299(4):103045

TSS for Ccdc88a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100699	Chr11:29323590-29323613 (+)	-56 bp
Tssr100700	Chr11:29323618-29323723 (+)	13 bp
Tssr100701	Chr11:29323726-29323737 (+)	74 bp
Tssr100702	Chr11:29324290-29324325 (+)	650 bp
Tssr100703	Chr11:29324363-29324366 (+)	707 bp
Tssr100704	Chr11:29324378-29324385 (+)	724 bp
Tssr100705	Chr11:29324576-29324581 (+)	921 bp
Tssr100706	Chr11:29405429-29405451 (+)	81,782 bp
Tssr100707	Chr11:29406533-29406550 (+)	82,884 bp
Tssr100708	Chr11:29410943-29410986 (+)	87,307 bp
Tssr100709	Chr11:29413676-29413691 (+)	90,026 bp
Tssr100710	Chr11:29413712-29413733 (+)	90,065 bp
Tssr100711	Chr11:29413735-29413749 (+)	90,084 bp
Tssr100712	Chr11:29432284-29432314 (+)	108,641 bp
Tssr100713	Chr11:29449541-29449545 (+)	125,885 bp
Tssr100714	Chr11:29453977-29453989 (+)	130,325 bp
Tssr100715	Chr11:29455560-29455571 (+)	131,908 bp
Tssr100716	Chr11:29457692-29457703 (+)	134,040 bp
Tssr100717	Chr11:29458479-29458521 (+)	134,842 bp
Tssr100718	Chr11:29458600-29458613 (+)	134,949 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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