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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	199713
Gene name	NLR family pyrin domain containing 7
Gene symbol	NLRP7
Synonyms (NCBI Gene)	CLR19.4HYDMNALP7NOD12PAN7PYPAF3
Chromosome	19
Chromosome location	19q13.42
Summary	This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104895504	C>T	Pathogenic	Splice donor variant
rs104895530	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs104895548	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104895553	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs746150420	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018316	hsa-miR-335-5p	Microarray	18185580
MIRT1187289	hsa-miR-1303	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0010955	Process	Negative regulation of protein processing	IDA	15817483
GO:0019828	Function	Aspartic-type endopeptidase inhibitor activity	IDA	15817483
GO:0019966	Function	Interleukin-1 binding	IPI	15817483
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IBA
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IMP	15817483
GO:0042802	Function	Identical protein binding	IPI	25082979
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEP	15817483
GO:0071347	Process	Cellular response to interleukin-1	IEP	15817483
GO:0089720	Function	Caspase binding	IPI	15817483
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IMP	15817483

MIM	HGNC	e!Ensembl
609661	22947	ENSG00000167634

Q8WX94

Protein name

NACHT, LRR and PYD domains-containing protein 7 (Nucleotide-binding oligomerization domain protein 12) (PYRIN-containing APAF1-like protein 3)

Protein function

Inhibits CASP1/caspase-1-dependent IL1B secretion.

PDB

2KM6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02758	PYRIN	9 → 85	PAAD/DAPIN/Pyrin domain	Domain
PF05729	NACHT	172 → 340	NACHT domain	Domain
PF17779	NOD2_WH	410 → 466	NOD2 winged helix domain	Domain
PF17776	NLRC4_HD2	468 → 586	NLRC4 helical domain HD2	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle. {ECO:0000269|PubMed:15817483, ECO:0000269|PubMed:16462743}.

Sequence

MTSPQLEWTLQTLLEQLNEDELKSFKSLLWAFPLEDVLQKTPWSEVEEADGKKLAEILVN
TSSENWIRNATVNILEEMNLTELCKMAKAEMMEDGQVQEIDNPELGDAEEDSELAKPGEK
EGWRNSMEKQSLVWKNTFWQGDIDNFHDDVTLRNQRFIPFLNPRTPRKLTPYTVVLHGPA
GVGKTTLAKKCMLDWTDCNLSPTLRYAFYLSCKELSRMGPCSFAELISKDWPELQDDIPS
ILAQAQRILFVVDGLDELKVPPGALIQDICGDWEKKKPVPVLLGSLLKRKMLPRAALLVT
TRPRALRDLQLLAQQPIYVRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLG
SAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAA
QGLWAQMSVFHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFY
ALEKEEGEDRDGHAWDIGDVQKLLSGEERLKNPDLIQVGHFLFGLANEKRAKELEATFGC
RMSPDIKQELLQCKAHLHANKPLSVTDLKEVLGCLYESQEEELAKVVVAPFKEISIHLTN
TSEVMHCSFSLKHCQDLQKLSLQVAKGVFLENYMDFELDIEFERCTYLTIPNWARQDLRS
LRLWTDFCSLFSSNSNLKFLEVKQSFLSDSSVRILCDHVTRSTCHLQKVEIKNVTPDTAY
RDFCLAFIGKKTLTHLTLAGHIEWERTMMLMLCDLLRNHKCNLQYLRLGGHCATPEQWAE
FFYVLKANQSLKHLRLSANVLLDEGAMLLYKTMTRPKHFLQMLSLENCRLTEASCKDLAA
VLVVSKKLTHLCLAKNPIGDTGVKFLCEGLSYPDCKLQTLVLQQCSITKLGCRYLSEALQ
EACSLTNLDLSINQIARGLWILCQALENPNCNLKHLRLKTYETNLEIKKLLEEVKEKNPK
LTIDCNASGATAPPCCDFFC

Sequence length

980

Interactions

View interactions

	KEGG
	NOD-like receptor signaling pathway

252

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Pathogenic	rs104895502	RCV005887195
Hydatidiform mole	Pathogenic	rs104895553, rs2069116238	RCV004017396 RCV001293261
Hydatidiform mole, recurrent, 1	Pathogenic; Likely pathogenic	rs104895525, rs104895512, rs104895553, rs104895547, rs104895504, rs104895505, rs104895506, rs104895502, rs104895503, rs104895530, rs104895548, rs104895549, rs2069219201, rs104895554, rs2069070395, rs2068825510 View all (1 more)	RCV000084001 RCV000084003 RCV000084049 RCV000084060 RCV000001651 RCV000001652 RCV000001653 RCV000001654 RCV000001655 RCV000001656 RCV000001658 RCV000001659 RCV000001660 RCV003313015 RCV000034309 RCV001250901 RCV001030759
NLRP7-related disorder	Likely pathogenic	rs2515738438	RCV003419146

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs77313457	RCV005894842
Cholangiocarcinoma	Likely benign	rs73055288	RCV005894847
Lung cancer	Benign	rs77313457	RCV005894844
Malignant lymphoma, large B-cell, diffuse	Likely benign; Uncertain significance	rs73055288, rs1654636	RCV005894845 RCV005913817
Malignant tumor of esophagus	Benign	rs77313457	RCV005894841
Ovarian serous cystadenocarcinoma	not provided	rs8106278	RCV005887697
Sarcoma	not provided	rs8106278	RCV005887696
Squamous cell carcinoma of the head and neck	Benign	rs77313457	RCV005894840
Thymoma	not provided	rs8106278	RCV005887698
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs146872991	RCV005913827
Uterine carcinosarcoma	Benign; Likely benign	rs77313457, rs73055288	RCV005894843 RCV005894846
Uterine corpus endometrial carcinoma	not provided; Likely benign	rs8106278, rs73055288	RCV005887699 RCV005894848

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Associate	21421271
Abortion Spontaneous	Associate	21421271, 25082979, 28810880
Adenocarcinoma of Lung	Associate	35866781
Atrophy	Associate	21421271, 28561018
Birk Barel Mental Retardation Dysmorphism Syndrome	Associate	35296332
Carcinoma Hepatocellular	Associate	35242200
Colitis Ulcerative	Associate	29211899
Colorectal Neoplasms	Associate	35836259
Crohn Disease	Associate	29211899
Endometrial Neoplasms	Associate	18751440
Genetic Diseases Inborn	Associate	32917333
Gestational Trophoblastic Disease	Associate	30235719
Glioblastoma	Associate	40333895
Hydatidiform Mole	Associate	19300480, 21421271, 21885028, 22025618, 22646272, 23232697, 25082979, 25376457, 26121690, 26323243, 26544189, 26956250, 28810880, 29463882, 29693651 View all (6 more)
Infertility	Associate	28810880
Inflammation	Associate	18751440, 22025618
Inflammatory Bowel Diseases	Associate	29211899
Lymphoproliferative Syndrome X Linked 2	Associate	23818254
Neoplasm Invasiveness	Associate	18751440
Neoplasms	Associate	18751440
Nevus	Associate	22646272
Placenta Diseases	Associate	32814763
Pre Eclampsia	Associate	28810880, 35296332
Pulmonary Disease Chronic Obstructive	Associate	24430176
Renal Insufficiency	Associate	28561018, 32592075
Seminoma	Associate	18751440
Triple Negative Breast Neoplasms	Associate	31072371

NLRP7 (NLR family pyrin domain containing 7)