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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51574
Gene name	La ribonucleoprotein 7, transcriptional regulator
Gene symbol	LARP7
Synonyms (NCBI Gene)	ALAZSHDCMA18PPIP7ShLARP7
Chromosome	4
Chromosome location	4q25
Summary	This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs755439936	ACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs778909076	GTTA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554013625	AGGATAC>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1578642104	ATACAGAAATTAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments
MIRT1104865	hsa-miR-1251	CLIP-seq
MIRT1104866	hsa-miR-1279	CLIP-seq
MIRT1104867	hsa-miR-1297	CLIP-seq
MIRT1104868	hsa-miR-26a	CLIP-seq
MIRT1104869	hsa-miR-26b	CLIP-seq
MIRT1104870	hsa-miR-3545-3p	CLIP-seq
MIRT1104871	hsa-miR-3611	CLIP-seq
MIRT1104872	hsa-miR-4465	CLIP-seq
MIRT1104873	hsa-miR-4477a	CLIP-seq
MIRT1104874	hsa-miR-452	CLIP-seq
MIRT1104875	hsa-miR-4536	CLIP-seq
MIRT1104876	hsa-miR-4676-3p	CLIP-seq
MIRT1104877	hsa-miR-499-3p	CLIP-seq
MIRT1104878	hsa-miR-499a-3p	CLIP-seq
MIRT1104879	hsa-miR-581	CLIP-seq
MIRT1104880	hsa-miR-593	CLIP-seq
MIRT1104866	hsa-miR-1279	CLIP-seq
MIRT1104881	hsa-miR-1305	CLIP-seq
MIRT1104882	hsa-miR-3065-5p	CLIP-seq
MIRT1104883	hsa-miR-3163	CLIP-seq
MIRT1104884	hsa-miR-3653	CLIP-seq
MIRT1104885	hsa-miR-3658	CLIP-seq
MIRT1104886	hsa-miR-3662	CLIP-seq
MIRT1104887	hsa-miR-421	CLIP-seq
MIRT1104875	hsa-miR-4536	CLIP-seq
MIRT1104877	hsa-miR-499-3p	CLIP-seq
MIRT1104878	hsa-miR-499a-3p	CLIP-seq
MIRT2028866	hsa-miR-3117-5p	CLIP-seq
MIRT1104881	hsa-miR-1305	CLIP-seq
MIRT1104882	hsa-miR-3065-5p	CLIP-seq
MIRT2028866	hsa-miR-3117-5p	CLIP-seq
MIRT1104883	hsa-miR-3163	CLIP-seq
MIRT1104886	hsa-miR-3662	CLIP-seq
MIRT2560210	hsa-miR-3913-3p	CLIP-seq
MIRT1104887	hsa-miR-421	CLIP-seq
MIRT2560211	hsa-miR-4662a-3p	CLIP-seq
MIRT2560212	hsa-miR-489	CLIP-seq
MIRT1104866	hsa-miR-1279	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18483487
GO:0000494	Process	Box C/D sno(s)RNA 3'-end processing	IEA
GO:0000494	Process	Box C/D sno(s)RNA 3'-end processing	IMP	32017898
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	18281698, 18483487, 20562857, 23455922, 23602568, 25470060, 26659056, 28514442, 29513927, 30177828, 30824372, 30833792, 31046837, 32707033, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IDA	28254838
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008380	Process	RNA splicing	IEA
GO:0017070	Function	U6 snRNA binding	IDA	32017898
GO:0017070	Function	U6 snRNA binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032897	Process	Negative regulation of viral transcription	IMP	18249148, 18483487
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IC	18483487
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IMP	32017898
GO:0097322	Function	7SK snRNA binding	IDA	18249148, 18483487, 27679474, 28431135, 29946027
GO:0120259	Component	7SK snRNP	IDA	18249148, 18483487, 28431135
GO:1904871	Process	Positive regulation of protein localization to Cajal body	IDA	28254838
GO:1905382	Process	Positive regulation of snRNA transcription by RNA polymerase II	IDA	28254838
GO:1990438	Process	U6 2'-O-snRNA methylation	IEA
GO:1990438	Process	U6 2'-O-snRNA methylation	IMP	32017898
GO:1990904	Component	Ribonucleoprotein complex	IDA	19906723, 28254838
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
612026	24912	ENSG00000174720

Q4G0J3

Protein name

La-related protein 7 (La ribonucleoprotein domain family member 7) (hLARP7) (P-TEFb-interaction protein for 7SK stability) (PIP7S)

Protein function

RNA-binding protein that specifically binds distinct small nuclear RNA (snRNAs) and regulates their processing and function (PubMed:18249148, PubMed:32017898). Specifically binds the 7SK snRNA (7SK RNA) and acts as a core component of the 7SK ri

PDB

4WKR , 5KNW , 6D12 , 7SLP , 7SLQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05383	La	38 → 96	La domain	Domain
PF00076	RRM_1	127 → 190	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF08777	RRM_3	454 → 552	RNA binding motif	Domain

Sequence

METESGNQEKVMEEESTEKKKEVEKKKRSRVKQVLADIAKQVDFWFGDANLHKDRFLREQ
IEKSRDGYVDISLLVSFNKMKKLTTDGKLIARALRSSAVVELDLEGTRIRRKKPLGERPK
DEDERTVYVELLPKNVNHSWIERVFGKCGNVVYISIPHYKSTGDPKGFAFVEFETKEQAA
KAIEFLNNPPEEAPRKPGIFPKTVKNKPIPALRVVEEKKKKKKKKGRMKKEDNIQAKEEN
MDTSNTSISKMKRSRPTSEGSDIESTEPQKQCSKKKKKRDRVEASSLPEVRTGKRKRSSS
EDAESLAPRSKVKKIIQKDIIKEASEASKENRDIEISTEEEKDTGDLKDSSLLKTKRKHK
KKHKERHKMGEEVIPLRVLSKSEWMDLKKEYLALQKASMASLKKTISQIKSESEMETDSG
VPQNTGMKNEKTANREECRTQEKVNATGPQFVSGVIVKIISTEPLPGRKQVRDTLAAISE
VLYVDLLEGDTECHARFKTPEDAQAVINAYTEINKKHCWKLEILSGDHEQRYWQKILVDR
QAKLNQPREKKRGTEKLITKAEKIRLAKTQQASKHIRFSEYD

Sequence length

582

Interactions

View interactions

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 Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499762	RCV000454270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic	rs778909076	RCV001526548	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs778909076	RCV000678485	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LARP7-related disorder	Pathogenic; Likely pathogenic	rs752178257, rs2477799301, rs866288154	RCV004753384 RCV003418578 RCV003399882	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephalic primordial dwarfism, Alazami type	Pathogenic; Likely pathogenic	rs752178257, rs2149266119, rs1560923303, rs2149266489, rs2149263749, rs2149267795, rs773589596, rs2149265753, rs757874580, rs2477751871, rs2048243728, rs1554011754, rs2477751846, rs752648225, rs2048674698 View all (15 more)	RCV001754571 RCV001754575 RCV003234113 RCV001782375 RCV001782377 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alazami syndrome	Alazami Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	31467394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25053741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25053741	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32726637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22488152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27766953, 31467394, 32017898, 33356342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22865833, 24768001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	26374271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	33356342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	BEFREE	31656314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31467394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31467394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	26607181, 29576627, 31467394		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31467394, 33356342	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25053741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22488152, 31656314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26501340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic primordial dwarfism Alazami type	Microcephalic Primordial Dwarfism	BEFREE	22865833, 26374271, 30006060, 31467394, 31656314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic primordial dwarfism Alazami type	Microcephalic Primordial Dwarfism	ORPHANET_DG	22865833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic primordial dwarfism Alazami type	Microcephalic Primordial Dwarfism	GENOMICS_ENGLAND_DG	26374271, 26607181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic primordial dwarfism Alazami type	Microcephalic Primordial Dwarfism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic primordial dwarfism Alazami type	Microcephalic Primordial Dwarfism	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18249148, 22488152, 29620212, 31656314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29620212		★★★★★ ★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	22865833, 24768001		★★★★★ ★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	GENOMICS_ENGLAND_DG	26374271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	30006060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31467394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	30006060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotypical hand wringing	Stereotypy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22488152, 31656314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22488152	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31656314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26607181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	34107850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LARP7 (La ribonucleoprotein 7, transcriptional regulator)