NLRP7 (NLR family pyrin domain containing 7)

Gene

• Entrez ID: 199713
• Gene name: NLR family pyrin domain containing 7
• Gene symbol: NLRP7
• Synonyms (NCBI Gene): CLR19.4, HYDM, NALP7, NOD12, PAN7, PYPAF3
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 609661
• HGNC: 22947
• e!Ensembl: ENSG00000167634

Protein

• UniProt ID: 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

Pathways

KEGG:

NOD-like receptor signaling pathway

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Gastric cancer	Pathogenic	rs104895502	RCV005887195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform mole	Pathogenic	rs104895553, rs2069116238	RCV004017396 RCV001293261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform mole, recurrent, 1	Pathogenic; Likely pathogenic	rs104895525, rs104895512, rs104895553, rs104895547, rs104895504, rs104895505, rs104895506, rs104895502, rs104895503, rs104895530, rs104895548, rs104895549, rs2069219201, rs104895554, rs2069070395, rs2068825510	RCV000084001 RCV000084003 RCV000084049 RCV000084060 RCV000001651 RCV000001652 RCV000001653 RCV000001654 RCV000001655 RCV000001656 RCV000001658 RCV000001659 RCV000001660 RCV003313015 RCV000034309 RCV001250901 RCV001030759	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NLRP7-related disorder	Likely pathogenic	rs2515738438	RCV003419146	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE HYDATIDIFORM MOLE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL HYDATIDIFORM MOLE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	not provided; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrophy	Atrophy	Pubtator	21421271, 28561018	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	19300480		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35242200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15517871		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	21948117		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	29211899	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35836259	Associate	★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	ORPHANET_DG	19246479, 24533231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete hydatidiform mole	Complete Hydatidiform Mole	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	20870286, 22315435, 23125094, 23201303, 23515668, 23722513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete hydatidiform mole	Complete Hydatidiform Mole	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	29211899	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27397068		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	18751440	Associate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	30235719	Associate	★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	30617930		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	30235719		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40333895	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	16462743, 17204043, 18039680, 19066229, 19246479, 19300480, 21421271, 21507883, 21623199, 21659348, 21948117, 22315435, 22646272, 22909446, 23515668, 23722513, 23963444, 24105752, 24130816, 25097207, 25376457, 25982095, 26121690, 26544189, 26606510, 26956250, 28135560, 28810880, 29458875, 29463882, 31220306, 31505467		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole	Hydatidiform Mole	LHGDN	16501554, 18039680		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole	Hydatidiform mole	Pubtator	19300480, 21421271, 21885028, 22025618, 22646272, 23232697, 25082979, 25376457, 26121690, 26323243, 26544189, 26956250, 28810880, 29463882, 29693651, 32484253, 32592075, 32814763, 33751332, 34087990, 36001209	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole	Hydatidiform Mole	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole	Hydatidiform Mole	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydatidiform Mole, Partial	Hydatidiform Mole	ORPHANET_DG	19246479, 24533231		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	16462743, 19246479, 19300480, 21421271, 21507883, 21623199, 21659348, 22646272, 23963444, 25082979, 25097207, 25982095, 26121690, 26606510, 28810880		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	UNIPROT_DG	16462743, 19246479		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	CLINVAR_DG	16462743, 18039680, 19054016, 19066229, 19246479, 21659348, 22315435, 22361007, 23201303, 23354651, 25082979		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infertility	Infertility	Pubtator	28810880	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	29211899	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27397068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15517871		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	21948117, 31220306		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23515668, 23963444, 28810880		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	21948117, 31220306		★☆☆☆☆ Found in Text Mining only
Partial hydatidiform mole	Partial Hydatidiform Mole	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24430176	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	15596043		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	15596043		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	18751440	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	15596043		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31072371	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29211899		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only