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	129446
Gene name	Xin actin binding repeat containing 2
Gene symbol	XIRP2
Synonyms (NCBI Gene)	CMYA3
Chromosome	2
Chromosome location	2q24.3

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018886	hsa-miR-335-5p	Microarray	18185580
MIRT527211	hsa-miR-3609	PAR-CLIP	22012620
MIRT527210	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT527209	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT527208	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT527207	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT527206	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT527205	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT527204	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT527203	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT527202	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT527200	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT527201	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT527199	hsa-miR-3146	PAR-CLIP	22012620
MIRT527198	hsa-miR-589-3p	PAR-CLIP	22012620
MIRT527211	hsa-miR-3609	PAR-CLIP	22012620
MIRT527210	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT527209	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT527208	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT527207	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT527206	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT527205	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT527204	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT527203	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT527202	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT527200	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT527201	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT527199	hsa-miR-3146	PAR-CLIP	22012620
MIRT527198	hsa-miR-589-3p	PAR-CLIP	22012620
MIRT1495710	hsa-miR-371b-5p	CLIP-seq
MIRT1495711	hsa-miR-4760-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IBA
GO:0001725	Component	Stress fiber	IMP	15454575
GO:0003281	Process	Ventricular septum development	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	23985323
GO:0005911	Component	Cell-cell junction	IEA
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IMP	15454575
GO:0007015	Process	Actin filament organization	IBA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030054	Component	Cell junction	IEA
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IMP	15454575
GO:0051393	Function	Alpha-actinin binding	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:0110053	Process	Regulation of actin filament organization	ISS
GO:1903829	Process	Positive regulation of protein localization	IEA

MIM	HGNC	e!Ensembl
609778	14303	ENSG00000163092

A4UGR9

Protein name

Xin actin-binding repeat-containing protein 2 (Beta-xin) (Cardiomyopathy-associated protein 3) (Xeplin)

Protein function

Protects actin filaments from depolymerization (PubMed:15454575). Required for correct morphology of cell membranes and maturation of intercalated disks of cardiomyocytes via facilitating localization of XIRP1 and CDH2 to the termini of aligned

PDB

4F14

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08043	Xin	397 → 412	Xin repeat	Repeat
PF08043	Xin	437 → 452	Xin repeat	Repeat
PF08043	Xin	474 → 489	Xin repeat	Repeat
PF08043	Xin	512 → 527	Xin repeat	Repeat
PF08043	Xin	590 → 605	Xin repeat	Repeat
PF08043	Xin	628 → 643	Xin repeat	Repeat
PF08043	Xin	661 → 676	Xin repeat	Repeat
PF08043	Xin	695 → 710	Xin repeat	Repeat
PF08043	Xin	732 → 747	Xin repeat	Repeat
PF08043	Xin	837 → 852	Xin repeat	Repeat
PF08043	Xin	875 → 890	Xin repeat	Repeat
PF08043	Xin	914 → 929	Xin repeat	Repeat
PF08043	Xin	947 → 962	Xin repeat	Repeat
PF08043	Xin	1059 → 1074	Xin repeat	Repeat
PF08043	Xin	1132 → 1147	Xin repeat	Repeat
PF08043	Xin	1170 → 1185	Xin repeat	Repeat
PF08043	Xin	1207 → 1222	Xin repeat	Repeat
PF08043	Xin	1272 → 1287	Xin repeat	Repeat
PF08043	Xin	1345 → 1360	Xin repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle at areas of Z-disk disruption in a longitudinal pattern spanning one or more sarcomeres (at protein level) (PubMed:23985323). Weakly expressed in mature myofibrils (at protein level) (PubMed:23985323). Expr

Sequence

MSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDC
RSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVG
TSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDE
EIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKTESEYEETFKPSSVVSTSSTSCV
STSQRKETSTTRYSDHSVTSSTLAQINATSSGMTEEFPPPPPDVLQTSVDVTAFSQSPEL
PSPPRRLPVPKDVYSKQRNLYELNRLYKHIHPELRKNLEKDYISEVSEIVSSQMNSGSSV
SADVQQARYVFENTNDSSQKDLNSEREYLEWDEILKGEVQSIRWIFENQPLDSINNGSPD
EGDISRGIADQEIIAGGDVKYTTWMFETQPIDTLGAYSSDTVENAEKIPELARGDVCTAR
WMFETRPLDSMNKMHQSQEESAVTISKDITGGDVKTVRYMFETQHLDQLGQLHSVDEVHL
LQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVHREDVEKGDVRTARWMFE
TQPLDTINKDITEIKVVRGISMEENVKGGVSKAKWLFETQPLEKIKESEEVIIEKEKIIG
TDVSRKCWMFETQPLDILKEVPDADSLQREEIIGGDVQTTKHLFETLPIEALKDSPDIGK
LQKITASEEEKGDVRHQKWIFETQPLEDIRKDKKEYTRTVKLEEVDRGDVKNYTHIFESN
NLIKFDASHKIEVEGVTRGAVELNKSLFETTPLYAIQDPLGKYHQVKTVQQEEIVRGDVR
SCRWLFETRPIDQFDESIHKFQIIRGISAQEIQTGNVKSAKWLFETQPLDSIKYFSDVEE
TESKTEQTRDIVKGDVKTCKWLFETQPMESLYEKVSLMTSSEEIHKGDVKTCTWLFETQP
LDTIKDDSETAVKLQTVKQEEIQGGDVRTACFLFETENLDSIQGEEVKEIKPVEMDIQAG
DVSSMRYKFENQSLDSISSSSEEVLKKIKTLKTEDIQKGNVLNCRWLFENQPIDKIKESQ
EGDECVKTVTDIQGGDVRKGCFIFETFSLDEIKEESDYISTKKTITEEVIQGDVKSYRML
FETQPLYAIQDREGSYHEVTTVKKEEVIHGDVRGTRWLFETKPLDSINKSETVYVIKSVT
QEDIQKGDVSSVRYRFETQPLDQISEESHNIMPSIDHIQGGNVKTSRQFFESENFDKNNY
IRTVSVNEIQKGNVKTSTWLFETHTMDELRGEGLEYENIKTVTQEDVQKGDVKQAVWLFE
NRTFDSIMEAHKGITKMTKEEIPPSDVKTTTWLFETTPLHEFNETRVEKIEIIGKSIKET
LEDLYSQKVIQAPGIIIEADEIGDVRMAKYKLMNQASPEIQKEEIIRADLRNIMVNLLSK
RDCTEREILISEEEKGNVNLTKTQLLNRSTEFHAEKEEIVKGDVQQAIKNLFSEERSVKK
GILIQEDEKGDINMTIYCLLHENDGDTIEREEVIGGDVKRTIHNLLSSTSNNKISERAKI
DASERGNVQFFTTCIEAGALDYLKQLHTESNETLTAKKQEGEKEIIGGDVEGTKLLLKKR
QSLVERTVSETDIIPGDVHNTVKVFMTEPQSTFGKIPKEEIIKGDLTSTLNSLSQAVNQK
TVTKTEEIIKGNMLATLKSLKESSHRWKESKQPDAIPGDIEKAIECLEKATNTKTEILKK
ELLKDDLETSLRSLKEAQRSFKEVHKEGVIKKDAKAVMAGSSGEQKTDIHQVAVQRNKNS
LLQPKPGPFEPAAKWQGGADTLSQTMGKSCHGNLVEERTEVNLPKAPKGTVKIVIDREQN
NDALEKSLRRLSNSHHKSNVLESGDKTGVWTDTTGEQHLRDEYMSRQLTSTVSVKNNLTT
KESDRAVRELKKDDVFNSIQSAGKTVGKQQTYELRNDHQKMEGFHIKSPKKTKNIKILTD
TQSSKPSPTQHPVSMPVGGTYDLSGDFQKQTLLKQETKYSNKDIKKKNINLQPMWQLLPV
EQDTSNVTEMKVSEKSHNTFKATNKKRETDVHLKSQDFLMKTNTSTGLKMAMERSLNPIN
FNPENNVKESECPLPPPSPPPPPPSNASSEIEFPLPPPPPLMMFPEKNGFLPSLSTEKIK
AEFESFPGLPLPPPPVDEKSERESSSMFLPPPPPPTPSQKPAHLLSSSAPEKHSGDFMQQ
YSQKEASNSQNSQAKIITGKTGVLPPPTLPKPKLPKHIKDNKNDFSPKVELATSLSDMEC
KITTSKDQKKVMVMTSSEHTETKQNVISKSLDERKQLSIDSANCLSHTVPGTSAPRKKQI
APLIKSHSFPESSGQQNPKPYMRKFKTPLMIAEEKYRQQKEEIEKQKQESSYYNIVKTQS
QNQHITEVEKEMPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPE
TVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQ
LHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTE
ASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKL
PGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQ
TAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQR
DDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREY
AVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSK
VSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLK
TRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPP
RSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSP
PTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEI
IRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVY
AKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSL
SEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKE
VRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISEAAAPRQGNMYTLSKDS
LSNGVPSGRQAEFS

Sequence length

3374

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

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 (20)

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.
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart defects, multiple types, 4	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XIRP2-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	BEFREE	16205742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34980126, 38179759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26656454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29570242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	25865352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30410445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	23044792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36037157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32012118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

XIRP2 (xin actin binding repeat containing 2)