NHLRC2 (NHL repeat containing 2)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
374354 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
NHL repeat containing 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NHLRC2 |
SynonymsGene synonyms aliases
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FINCA |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q25.3 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs201701259 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs757267294 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q8NBF2 |
Protein name |
NHL repeat-containing protein 2 |
Protein function |
Required for normal embryonic development. |
PDB |
6G7W
,
6GC1
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13905 |
Thioredoxin_8 |
78 → 174 |
Thioredoxin-like |
Domain |
PF01436 |
NHL |
278 → 304 |
NHL repeat |
Repeat |
PF01436 |
NHL |
474 → 502 |
NHL repeat |
Repeat |
PF01436 |
NHL |
531 → 559 |
NHL repeat |
Repeat |
|
Sequence |
|
Sequence length |
726 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Elliptocytosis |
Elliptocytosis, Hereditary |
rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564 |
|
Fibrosis, neurodegeneration, and cerebral angiomatosis |
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS |
rs201701259, rs757267294 |
29423877 |
Hemolytic anemia |
Chronic hemolytic anemia |
rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Brain atrophy |
Brain atrophy |
|
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Cerebral atrophy |
Cerebral atrophy |
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Hypoplasia of corpus callosum |
Hypoplasia of corpus callosum |
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Quadriplegia |
Quadriplegia |
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Strabismus |
Strabismus |
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