Arhgap44 MGI Mouse Gene Detail - MGI:2144423 - Rho GTPase activating protein 44

Symbol

Arhgap44
Name

Rho GTPase activating protein 44
Synonyms

AU040829

Feature Type

protein coding gene
IDs

MGI:2144423
NCBI Gene: 216831
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:64892865-65053779 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 40.42 cM
Mapping Data

2 experiments

SNPs within 2kb

5273 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2144423	protein coding gene	Chr11:64892865-65053787 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018474	protein coding gene	Chr11:65189266-65359666 (-)
A/J	MGP_AJ_G0018443	protein coding gene	Chr11:62759394-62925136 (-)
AKR/J	MGP_AKRJ_G0018412	protein coding gene	Chr11:64663900-64825343 (-)
BALB/cJ	MGP_BALBcJ_G0018414	protein coding gene	Chr11:63016786-63184157 (-)
C3H/HeJ	MGP_C3HHeJ_G0018227	protein coding gene	Chr11:64635329-64812805 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018866	protein coding gene	Chr11:67171397-67337311 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016510	protein coding gene	Chr11:59776308-59947437 (-)
CAST/EiJ	MGP_CASTEiJ_G0017783	protein coding gene	Chr11:64859169-65023452 (-)
CBA/J	MGP_CBAJ_G0018201	protein coding gene	Chr11:70128255-70309746 (-)
DBA/2J	MGP_DBA2J_G0018310	protein coding gene	Chr11:62305453-62467595 (-)
FVB/NJ	MGP_FVBNJ_G0018300	protein coding gene	Chr11:61960382-62122478 (-)
LP/J	MGP_LPJ_G0018382	protein coding gene	Chr11:65729572-65892192 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018324	protein coding gene	Chr11:71015826-71189025 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018907	protein coding gene	Chr11:64864141-65037331 (-)
PWK/PhJ	MGP_PWKPhJ_G0017557	protein coding gene	Chr11:62932312-63098074 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017347	protein coding gene	Chr11:64705664-64886132 (-)
WSB/EiJ	MGP_WSBEiJ_G0017836	protein coding gene	Chr11:64477650-64641356 (-)

Human Ortholog

ARHGAP44, Rho GTPase activating protein 44

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ARHGAP44, Rho GTPase activating protein 44
Synonyms

NPC-A-10, RICH2
Links

HGNC:29096

NCBI Gene ID: 9912

neXtProt AC: NX_Q17R89

UniProt: Q17R89
Chr Location

17p12; chr17:12789498-12991643 (+) GRCh38

MGI Vertebrate Homology

Arhgap44 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ARHGAP44
Gene Tree

Arhgap44

Diseases

2 with human ARHGAP44 associations

				Human Disease	Mouse Models
				acquired immunodeficiency syndrome IDs acquired immunodeficiency syndrome DOID:635 EFO:0000765 ICD10CM:B20 MESH:D000163 NCI:C2851 UMLS_CUI:C0001175
				skin melanoma IDs skin melanoma DOID:8923 DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43.9 ICD9CM:172 ICD9CM:172.0 ICD9CM:172.2 ICD9CM:172.4 ICD9CM:172.5 ICD9CM:172.9 MESH:C562393 NCI:C3510 OMIM:608035 OMIM:612263 UMLS_CUI:C0151779

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

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Phenotype Summary

9 phenotypes from 2 alleles in 2 genetic backgrounds
12 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

8
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

5
Genomic Mutations

1 involving Arhgap44
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit increased brain weight, abnormal dendritic spine morphology, hypoactivity, increased self-grooming behavior, abnormal response to novel objects, and impaired motor learning.

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All GO Annotations

41
GO References

9

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

836
Tissues

40
cDNA Data

9
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase arhgap44

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All Sequences

62
RefSeq

16
UniProt

3
CCDS

CCDS36180.1

Ensembl

ENSMUSG00000033389 (Evidence)
NCBI Gene

216831

			Length	Strain/Species	Flank
genomic	216831	NCBI Gene Model \| MGI Sequence Detail	160915	C57BL/6J	± kb
transcript	NM_001408224	RefSeq \| MGI Sequence Detail	4084	C57BL/6
polypeptide	Q5SSM3	UniProt \| EBI \| MGI Sequence Detail	814	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000013997 Rho GTPase-activating protein 44

(term hierarchy)
InterPro Domains

IPR027267 AH/BAR domain superfamily

IPR004148 BAR domain

IPR047165 Rho GTPase-activating protein 17/44/SH3BP1-like

IPR000198 Rho GTPase-activating protein domain

IPR008936 Rho GTPase activation protein
GlyGen

Q5SSM3 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 9

cDNA 9

Microarray probesets 4

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MGI:2144278, MGI:2144545

Summaries

All 42

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 12
Earliest

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

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

TSS for Arhgap44:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr108463	Chr11:65053733-65053802 (-)	11 bp
Tssr108462	Chr11:64923258-64923273 (-)	130,513 bp
Tssr108461	Chr11:64923228-64923239 (-)	130,545 bp
Tssr108460	Chr11:64922549-64922556 (-)	131,226 bp
Tssr3518	Chr11:64900769-64900800 (-)	152,994 bp
Tssr108459	Chr11:64893904-64893908 (-)	159,873 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