Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9912
Gene name	Rho GTPase activating protein 44
Gene symbol	ARHGAP44
Synonyms (NCBI Gene)	NPC-A-10RICH2
Chromosome	17
Chromosome location	17p12

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029211	hsa-miR-26b-5p	Microarray	19088304
MIRT048008	hsa-miR-30c-5p	CLASH	23622248
MIRT794920	hsa-miR-4289	CLIP-seq
MIRT794921	hsa-miR-486-5p	CLIP-seq
MIRT1934713	hsa-miR-1258	CLIP-seq
MIRT1934714	hsa-miR-128	CLIP-seq
MIRT1934715	hsa-miR-3128	CLIP-seq
MIRT1934716	hsa-miR-3148	CLIP-seq
MIRT1934717	hsa-miR-3157-5p	CLIP-seq
MIRT1934718	hsa-miR-361-3p	CLIP-seq
MIRT1934719	hsa-miR-377	CLIP-seq
MIRT1934720	hsa-miR-4290	CLIP-seq
MIRT1934721	hsa-miR-4470	CLIP-seq
MIRT1934722	hsa-miR-4476	CLIP-seq
MIRT1934723	hsa-miR-4687-5p	CLIP-seq
MIRT1934724	hsa-miR-4691-3p	CLIP-seq
MIRT1934725	hsa-miR-4699-3p	CLIP-seq
MIRT1934726	hsa-miR-4726-3p	CLIP-seq
MIRT1934727	hsa-miR-494	CLIP-seq
MIRT2174445	hsa-miR-1202	CLIP-seq
MIRT2174446	hsa-miR-197	CLIP-seq
MIRT2174447	hsa-miR-224	CLIP-seq
MIRT2174448	hsa-miR-3156-3p	CLIP-seq
MIRT2174449	hsa-miR-3164	CLIP-seq
MIRT2174450	hsa-miR-3972	CLIP-seq
MIRT2174451	hsa-miR-4257	CLIP-seq
MIRT2174452	hsa-miR-4301	CLIP-seq
MIRT2174453	hsa-miR-4330	CLIP-seq
MIRT2174454	hsa-miR-4639-3p	CLIP-seq
MIRT2174455	hsa-miR-4691-5p	CLIP-seq
MIRT2174456	hsa-miR-4755-3p	CLIP-seq
MIRT2174457	hsa-miR-4779	CLIP-seq
MIRT2174458	hsa-miR-495	CLIP-seq
MIRT2174459	hsa-miR-938	CLIP-seq
MIRT2443920	hsa-miR-3545-3p	CLIP-seq
MIRT2443921	hsa-miR-3606	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	ISS
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	19273615, 25416956, 33961781
GO:0005543	Function	Phospholipid binding	IDA	22750946
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031256	Component	Leading edge membrane	IBA
GO:0031256	Component	Leading edge membrane	IDA	22750946
GO:0031267	Function	Small GTPase binding	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0035021	Process	Negative regulation of Rac protein signal transduction	IBA
GO:0035021	Process	Negative regulation of Rac protein signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0048786	Component	Presynaptic active zone	IBA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051490	Process	Negative regulation of filopodium assembly	IEA
GO:0051490	Process	Negative regulation of filopodium assembly	ISS
GO:0055037	Component	Recycling endosome	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IBA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099010	Process	Modification of postsynaptic structure	IEA
GO:0099152	Process	Regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA

MIM	HGNC	e!Ensembl
617716	29096	ENSG00000006740

Q17R89

Protein name

Rho GTPase-activating protein 44 (NPC-A-10) (Rho-type GTPase-activating protein RICH2) (RhoGAP interacting with CIP4 homologs protein 2) (RICH-2)

Protein function

GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1 (PubMed:1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03114	BAR	1 → 242	BAR domain	Domain
PF00620	RhoGAP	269 → 419	RhoGAP domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain. Expressed at weak level in other tissues. {ECO:0000269|PubMed:11431473}.

Sequence

MKKQFNRMRQLANQTVGRAEKTEVLSEDLLQVEKRLELVKQVSHSTHKKLTACLQGQQGA
EADKRSKKLPLTTLAQCLMEGSAILGDDTLLGKMLKLCGETEDKLAQELIHFELQVERDV
IEPLFLLAEVEIPNIQKQRKHLAKLVLDMDSSRTRWQQTSKSSGLSSSLQPAGAKADALR
EEMEEAANRVEICRDQLSADMYSFVAKEIDYANYFQTLIEVQAEYHRKSLTLLQAVLPQI
KAQQEAWVEKPSFGKPLEEHLTISGREIAFPIEACVTMLLECGMQEEGLFRVAPSASKLK
KLKAALDCCVVDVQEYSADPHAIAGALKSYLRELPEPLMTFELYDEWIQASNVQEQDKKL
QALWNACEKLPKANHNNIRYLIKFLSKLSEYQDVNKMTPSNMAIVLGPNLLWPQAEGNIT
EMMTTVSLQIVGIIEPIIQHADWFFPGEIEFNITGNYGSPVHVNHNANYSSMPSPDMDPA
DRRQPEQARRPLSVATDNMMLEFYKKDGLRKIQSMGVRVMDTNWVARRGSSAGRKVSCAP
PSMQPPAPPAELAAPLPSPLPEQPLDSPAAPALSPSGLGLQPGPERTSTTKSKELSPGSA
QKGSPGSSQGTACAGTQPGAQPGAQPGASPSPSQPPADQSPHTLRKVSKKLAPIPPKVPF
GQPGAMADQSAGQPSPVSLSPTPPSTPSPYGLSYPQGYSLASGQLSPAAAPPLASPSVFT
STLSKSRPTPKPRQRPTLPPPQPPTVNLSASSPQSTEAPMLDGMSPGESMSTDLVHFDIP
SIHIELGSTLRLSPLEHMRRHSVTDKRDSEEESESTAL

Sequence length

818

Interactions

View interactions

	Reactome
			Rho GTPase cycle

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARHGAP44-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36793496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36595475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31136984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	28510328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31136984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	28877074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22292074, 38031136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	28642683		★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGAP44 (Rho GTPase activating protein 44)