Gene Gene information from NCBI Gene database.
Entrez ID 374354
Gene name NHL repeat containing 2
Gene symbol NHLRC2
Synonyms (NCBI Gene)
FINCA
Chromosome 10
Chromosome location 10q25.3
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs201701259 G>T Pathogenic Coding sequence variant, missense variant
rs757267294 AG>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
635
miRTarBase ID miRNA Experiments Reference
MIRT016448 hsa-miR-193b-3p Microarray 20304954
MIRT041811 hsa-miR-484 CLASH 23622248
MIRT701435 hsa-miR-98-5p HITS-CLIP 23313552
MIRT701434 hsa-miR-4500 HITS-CLIP 23313552
MIRT701433 hsa-let-7i-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005576 Component Extracellular region TAS
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 30239752
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618277 24731 ENSG00000196865
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected in heart, kidney, muscle, brain, lung, liver and in skin fibroblasts (at protein level). {ECO:0000269|PubMed:29423877}.
Sequence
MAAPGGRGRSLSGLLPAQTSLEYALLDAVTQQEKDSLVYQYLQKVDGWEQDLSVPEFPEG
LEWLNTEEPISVYKDLCGKIVVLDFFTYCCINCIHLLPDLHALEHTYSDKDGLLIIGVHS
AKFPNEKVLDNIKSAVLRYNITHPMVNDADASLWQELEVSCWPTLVILGPRGNM
LFSLIG
EGHKDKLFLYTSIALKYYKDRGQIRDNKIGIKLYKDSLPPSPLLFPGKVTVDQVTDRLVI
ADTGHHRILVVWKNGQIQYSIGGPNPGRKDGIFSESTFNSPQGVAIMNNIIYVADTENHL
IRKI
DLEAEKVSTVAGIGIQGTDKEGGAKGEQQPISSPWDVVFGTSGSEVQRGDILWIAM
AGTHQIWALLLDSGKLPKKNELTKGTCLRFAGSGNEENRNNAYPHKAGFAQPSGLSLASE
DPWSCLFVADSESSTVRTVSLKDGAVKHLVGGERDPMNLFAFGDVDGVGINAKLQHPLGV
TWDKKRNLLYVADSYNHKIKVV
DPKTKNCTTLAGTGDTNNVTSSSFTESTFNEPGGLCIG
ENGELLYVADTNNHQIKVM
DLETKMVSVLPIFRSENAVVDGPFLVEKQKTLPKLPKSAPS
IRLSPVTACAGQTLQFKLRLDLPSGSKLTEGVSSCWFLTAEGNEWLLQGQIAAGDIENIS
SQPTISLQIPDDCLSLEAIVSVSVFLYYCSADSSACMMKAILFSQPLQITDTQQGCIAPV
ELRYVF
Sequence length 726
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Fibrosis, neurodegeneration, and cerebral angiomatosis Pathogenic; Likely pathogenic rs1488953322, rs1846062683, rs2134706667, rs1425674152, rs2494421263, rs201701259, rs757267294 RCV001693499
RCV001693500
RCV001693501
RCV001761746
RCV002310604
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma Pathogenic rs201701259 RCV005897270
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain atrophy Brain atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral Small Vessel Diseases Cerebral microangiopathy Pubtator 39826584 Stimulate
★☆☆☆☆
Found in Text Mining only
Chronic hemolytic anemia Hemolytic anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29242562
★☆☆☆☆
Found in Text Mining only
Critical Illness Critical illness Pubtator 35801790 Associate
★☆☆☆☆
Found in Text Mining only
Depression Postpartum Major depressive disorder Pubtator 35801790 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37188825 Associate
★☆☆☆☆
Found in Text Mining only
Elliptocytosis, Hereditary Elliptocytosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 37188825 Associate
★☆☆☆☆
Found in Text Mining only