Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NXPH2 | Human | ovarian cyst | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21239663 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NXPH2 | Human | ovarian cyst | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21239663 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8699246 | PMID:9570794 | PMID:12477932 | PMID:15489334 | PMID:19478329 | PMID:21873635 | PMID:21956439 | PMID:26186194 | PMID:27817196 | PMID:28514442 | PMID:33665565 | PMID:33961781 |
NXPH2 (Homo sapiens - human) |
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Nxph2 (Mus musculus - house mouse) |
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Nxph2 (Rattus norvegicus - Norway rat) |
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Nxph2 (Chinchilla lanigera - long-tailed chinchilla) |
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NXPH2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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NXPH2 (Canis lupus familiaris - dog) |
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Nxph2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NXPH2 (Sus scrofa - pig) |
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NXPH2 (Chlorocebus sabaeus - green monkey) |
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Nxph2 (Heterocephalus glaber - naked mole-rat) |
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Variants in NXPH2
21 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_007226.2(NXPH2):c.588G>A (p.Arg196=) | single nucleotide variant | Malignant melanoma [RCV000065093] | Chr2:138671129 [GRCh38] Chr2:139428699 [GRCh37] Chr2:139145169 [NCBI36] Chr2:2q22.1 |
not provided |
NM_007226.2(NXPH2):c.534G>A (p.Glu178=) | single nucleotide variant | Malignant melanoma [RCV000065094] | Chr2:138671183 [GRCh38] Chr2:139428753 [GRCh37] Chr2:139145223 [NCBI36] Chr2:2q22.1 |
not provided |
NM_007226.2(NXPH2):c.190C>T (p.Pro64Ser) | single nucleotide variant | Malignant melanoma [RCV000065095] | Chr2:138671527 [GRCh38] Chr2:139429097 [GRCh37] Chr2:139145567 [NCBI36] Chr2:2q22.1 |
not provided |
NM_007226.2(NXPH2):c.51+36874T>C | single nucleotide variant | Lung cancer [RCV000091440] | Chr2:138743317 [GRCh38] Chr2:139500887 [GRCh37] Chr2:2q22.1 |
uncertain significance |
GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3 | copy number gain | See cases [RCV000136054] | Chr2:136045480..142845159 [GRCh38] Chr2:136803050..143602728 [GRCh37] Chr2:136519520..143319198 [NCBI36] Chr2:2q21.3-22.2 |
pathogenic |
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 | copy number loss | See cases [RCV000136714] | Chr2:123445762..140592538 [GRCh38] Chr2:124203338..141350107 [GRCh37] Chr2:123919808..141066577 [NCBI36] Chr2:2q14.3-22.1 |
pathogenic |
GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1 | copy number loss | See cases [RCV000137506] | Chr2:136937358..146681810 [GRCh38] Chr2:137694928..147439378 [GRCh37] Chr2:137411398..147155848 [NCBI36] Chr2:2q22.1-22.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)x1 | copy number loss | See cases [RCV000449099] | Chr2:138578298..144874187 [GRCh37] Chr2:2q22.1-22.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] | Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3 |
drug response |
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 | copy number loss | See cases [RCV000512348] | Chr2:120571363..141627287 [GRCh37] Chr2:2q14.2-22.1 |
pathogenic |
Single allele | deletion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_007226.3(NXPH2):c.707C>T (p.Ala236Val) | single nucleotide variant | not specified [RCV004283803] | Chr2:138671010 [GRCh38] Chr2:139428580 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.564C>T (p.Arg188=) | single nucleotide variant | not provided [RCV000961978] | Chr2:138671153 [GRCh38] Chr2:139428723 [GRCh37] Chr2:2q22.1 |
benign |
Single allele | deletion | Mowat-Wilson syndrome [RCV001250753] | Chr2:137639637..146827604 [GRCh37] Chr2:2q22.1-22.3 |
pathogenic |
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) | copy number gain | Global developmental delay [RCV001352659] | Chr2:136473383..152727396 [GRCh37] Chr2:2q21.3-23.3 |
pathogenic |
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 | copy number gain | not provided [RCV001832896] | Chr2:111484468..146333604 [GRCh37] Chr2:2q13-22.3 |
pathogenic |
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187) | copy number loss | not specified [RCV002053235] | Chr2:138578298..144874187 [GRCh37] Chr2:2q22.1-22.3 |
likely pathogenic |
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 | copy number loss | not provided [RCV001832883] | Chr2:122699106..143799629 [GRCh37] Chr2:2q14.3-22.2 |
pathogenic |
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 | copy number gain | 2q13q22.3 microduplication syndrome [RCV002226436] | Chr2:112475655..145691999 [GRCh37] Chr2:2q13-22.3 |
pathogenic |
NM_007226.3(NXPH2):c.580A>G (p.Thr194Ala) | single nucleotide variant | not specified [RCV004128611] | Chr2:138671137 [GRCh38] Chr2:139428707 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.224A>C (p.Asp75Ala) | single nucleotide variant | not specified [RCV004145129] | Chr2:138671493 [GRCh38] Chr2:139429063 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.431T>C (p.Val144Ala) | single nucleotide variant | not specified [RCV004130316] | Chr2:138671286 [GRCh38] Chr2:139428856 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.196C>T (p.Pro66Ser) | single nucleotide variant | not specified [RCV004109369] | Chr2:138671521 [GRCh38] Chr2:139429091 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.517C>G (p.Pro173Ala) | single nucleotide variant | not specified [RCV004084694] | Chr2:138671200 [GRCh38] Chr2:139428770 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.548A>G (p.Lys183Arg) | single nucleotide variant | not specified [RCV004337254] | Chr2:138671169 [GRCh38] Chr2:139428739 [GRCh37] Chr2:2q22.1 |
uncertain significance |
GRCh37/hg19 2q22.1(chr2:138458639-141918297)x1 | copy number loss | Syndromic craniosynostosis [RCV003481511] | Chr2:138458639..141918297 [GRCh37] Chr2:2q22.1 |
likely pathogenic |
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3 | copy number gain | not specified [RCV003986337] | Chr2:134589311..149951291 [GRCh37] Chr2:2q21.2-23.2 |
likely pathogenic |
NM_007226.3(NXPH2):c.520C>A (p.Gln174Lys) | single nucleotide variant | not specified [RCV004491410] | Chr2:138671197 [GRCh38] Chr2:139428767 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.460G>C (p.Gly154Arg) | single nucleotide variant | not specified [RCV004491409] | Chr2:138671257 [GRCh38] Chr2:139428827 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.226A>G (p.Ser76Gly) | single nucleotide variant | not specified [RCV004638977] | Chr2:138671491 [GRCh38] Chr2:139429061 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.695G>A (p.Cys232Tyr) | single nucleotide variant | not specified [RCV004638978] | Chr2:138671022 [GRCh38] Chr2:139428592 [GRCh37] Chr2:2q22.1 |
uncertain significance |
NM_007226.3(NXPH2):c.751G>C (p.Asp251His) | single nucleotide variant | not specified [RCV004652847] | Chr2:138670966 [GRCh38] Chr2:139428536 [GRCh37] Chr2:2q22.1 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D2S2688 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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394 | 767 | 549 | 551 | 2952 | 360 | 520 | 1 | 207 | 160 | 89 | 497 | 1658 | 1227 | 32 | 2501 | 313 | 973 | 392 | 125 | 1 |
Ensembl Acc Id: | ENST00000272641 ⟹ ENSP00000272641 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_007226 ⟹ NP_009157 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_009157 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAD02280 | (Get FASTA) | NCBI Sequence Viewer |
AAI01462 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01463 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01464 | (Get FASTA) | NCBI Sequence Viewer | |
AAI04742 | (Get FASTA) | NCBI Sequence Viewer | |
BAD11132 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000272641 | ||
ENSP00000272641.3 | |||
GenBank Protein | O95156 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_009157 ⟸ NM_007226 |
- Peptide Label: | precursor |
- UniProtKB: | Q494R1 (UniProtKB/Swiss-Prot), B7WP24 (UniProtKB/Swiss-Prot), Q75QC3 (UniProtKB/Swiss-Prot), O95156 (UniProtKB/Swiss-Prot), Q494R3 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000272641 ⟸ ENST00000272641 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O95156-F1-model_v2 | AlphaFold | O95156 | 1-264 | view protein structure |
RGD ID: | 6861668 | ||||||||
Promoter ID: | EPDNEW_H3999 | ||||||||
Type: | initiation region | ||||||||
Name: | NXPH2_1 | ||||||||
Description: | neurexophilin 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:8076 | AgrOrtholog |
COSMIC | NXPH2 | COSMIC |
Ensembl Genes | ENSG00000144227 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000272641 | ENTREZGENE |
ENST00000272641.4 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000144227 | GTEx |
HGNC ID | HGNC:8076 | ENTREZGENE |
Human Proteome Map | NXPH2 | Human Proteome Map |
InterPro | Nxph | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NXPH/NXPE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:11249 | UniProtKB/Swiss-Prot |
NCBI Gene | 11249 | ENTREZGENE |
OMIM | 604635 | OMIM |
PANTHER | NEUREXOPHILIN-2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR17103 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Neurexophilin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA31864 | PharmGKB |
PIRSF | Neurexophilin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B7WP24 | ENTREZGENE |
NXPH2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q494R1 | ENTREZGENE | |
Q494R3 | ENTREZGENE, UniProtKB/TrEMBL | |
Q75QC3 | ENTREZGENE | |
UniProt Secondary | B7WP24 | UniProtKB/Swiss-Prot |
Q494R1 | UniProtKB/Swiss-Prot | |
Q75QC3 | UniProtKB/Swiss-Prot |