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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55726
Gene name	Integrator complex subunit 13
Gene symbol	INTS13
Synonyms (NCBI Gene)	ASUNC12orf11GCT1Mat89BbNET48SPATA30
Chromosome	12
Chromosome location	12p11.23

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20195357, 26496610, 32647223, 33548203
GO:0005634	Component	Nucleus	IDA	39032490
GO:0005634	Component	Nucleus	IDA	23904267
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	NAS	32647223
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	23097494, 23904267
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007052	Process	Mitotic spindle organization	IMP	23097494
GO:0007346	Process	Regulation of mitotic cell cycle	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	15737938
GO:0016180	Process	SnRNA processing	IMP	32647223
GO:0016180	Process	SnRNA processing	NAS	16239144
GO:0016604	Component	Nuclear body	IDA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0032039	Component	Integrator complex	IBA
GO:0032039	Component	Integrator complex	IDA	32647223, 33548203, 36920904, 38823386, 38906142, 39032490
GO:0032039	Component	Integrator complex	NAS	33548203
GO:0034243	Process	Regulation of transcription elongation by RNA polymerase II	NAS	32697989
GO:0051301	Process	Cell division	IEA
GO:0051642	Process	Centrosome localization	IBA
GO:0051642	Process	Centrosome localization	IMP	23097494
GO:0080154	Process	Regulation of fertilization	ISS
GO:0090435	Process	Protein localization to nuclear envelope	IMP	23097494
GO:0140297	Function	DNA-binding transcription factor binding	IDA	38823386, 38906142
GO:0160232	Component	INTAC complex	IDA	38570683
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IDA	38570683

MIM	HGNC	e!Ensembl
615079	20174	ENSG00000064102

Q9NVM9

Protein name

Integrator complex subunit 13 (Cell cycle regulator Mat89Bb homolog) (Germ cell tumor 1) (Protein asunder homolog) (Sarcoma antigen NY-SAR-95)

Protein function

Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683, PubMed:38823386). The integrator complex provides a quality checkpoin

PDB

6SN1 , 8PK5 , 8PK6 , 8RBX , 8RBZ , 8RC4 , 9EOC , 9EP1 , 9FA4 , 9FA7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10221	DUF2151	4 → 692	Cell cycle and development regulator	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Tends to be up-regulated in seminomas compared to normal testis. {ECO:0000269|PubMed:12414650}.

Sequence

MKIFSESHKTVFVVDHCPYMAESCRQHVEFDMLVKNRTQGIIPLAPISKSLWTCSVESSM
EYCRIMYDIFPFKKLVNFIVSDSGAHVLNSWTQEDQNLQELMAALAAVGPPNPRADPECC
SILHGLVAAVETLCKITEYQHEARTLLMENAERVGNRGRIICITNAKSDSHVRMLEDCVQ
ETIHEHNKLAANSDHLMQIQKCELVLIHTYPVGEDSLVSDRSKKELSPVLTSEVHSVRAG
RHLATKLNILVQQHFDLASTTITNIPMKEEQHANTSANYDVELLHHKDAHVDFLKSGDSH
LGGGSREGSFKETITLKWCTPRTNNIELHYCTGAYRISPVDVNSRPSSCLTNFLLNGRSV
LLEQPRKSGSKVISHMLSSHGGEIFLHVLSSSRSILEDPPSISEGCGGRVTDYRITDFGE
FMRENRLTPFLDPRYKIDGSLEVPLERAKDQLEKHTRYWPMIISQTTIFNMQAVVPLASV
IVKESLTEEDVLNCQKTIYNLVDMERKNDPLPISTVGTRGKGPKRDEQYRIMWNELETLV
RAHINNSEKHQRVLECLMACRSKPPEEEERKKRGRKREDKEDKSEKAVKDYEQEKSWQDS
ERLKGILERGKEELAEAEIIKDSPDSPEPPNKKPLVEMDETPQVEKSKGPVSLLSLWSNR
INTANSRKHQEFAGRLNSVNNRAELYQHLKEENGMETTENGKASRQ

Sequence length

706

Interactions

View interactions

	Reactome
			RNA polymerase II transcribes snRNA genes

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 (2)

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.
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Type Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	23179634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	31846095	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31846095	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	9784313	★★★★★ ★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	23179634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	31846095	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23179634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	23179634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	12414650	★★★★★ ★☆☆☆☆ Found in Text Mining only

INTS13 (integrator complex subunit 13)