Gene Gene information from NCBI Gene database.
Entrez ID 728763
Gene name Ciliary rootlet coiled-coil, rootletin family member 2
Gene symbol CROCC2
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q37.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005813 Component Centrosome IBA
GO:0005814 Component Centriole IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621300 51677 ENSG00000226321
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
H7BZ55
Protein name Ciliary rootlet coiled-coil protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15035 Rootletin 76 265 Family
Sequence
MSSASSEPGNGDASQQPLLGLDTVIQRLEDTILSPTASREDRALTVRGEGRQASPTPVPT
RIREIVAGSLSEEPPQAGVQEPTATVARVQEENELLQEELTRLGDLLAQASAERDELASR
CRVVSEQLQARLETTEAQLRRSELEHSVDLEEALGRLEAAEERSTGLCQVNALLREQLEH
MKKANDALGRELAGMTGSVQRLQGELELRRWAQRQTRSGGLGQPRDLLLLWRQAVVLGTD
LAELRVATERGLADLQADTARTARR
LHTACLNLDSNLRLSASSTASTLGQQLRDKAGEML
QLQGRWDAEKVALQARLSEQTLLVEKLTEQNEQKAKTIAALRTDLQNLVAQEDARCLELA
GSSITELGEPRRPLRSPQRATSPHQGASPPHICSPATLDPALQAMRAAIERRWRREQELC
LQLKSSQALVASLQEQLSESRRELWAAQKLQQERAREQAREREALRGQLEAQRLEVQQCR
ASCKLLGREKAALEMVVEELKGKADAADAEKQGLEAEAAELQRSLLLQAERREELALRRE
RSCRALETSQGRLQQLEEKVSGLREELASVREALSTAQLQRDVVESEREGLRSALARAEC
SNADLELLVRRLKSEGVEQRDSLAAMAALMEGLAQDKSALNHLALQLEQERDQLREQRKT
LEQERARAGEQLAQAEQQLALERAERRGLQQACGRLEQRQEQLEGQAALLGREKAQLQEQ
VGQVTCQKQALEEQLAQSLQDQEAQMGTLQQALQGKDALSEERAQLLAKQEALERQGRLA
AEEAADLRVERDSLESSLLEAQQLATKLQEQLEEEARSAGLARQALQVEMEQLQSDWEVQ
EMKLRQDTVRLQRQVAQQEREAQRALESQALAHREALAQLQREKETLSLTLAEEKEVARC
QLEQEKELVTKSAAEREALKGEIQSLKQERDESLLQLEHKMQQALSLKETERSLLSEELS
RARRTLERVQQEAQSQQEQAQATISATTEELKALQAQFEDAITAHQRETTALRESLQDLA
AERGDVEREAERLRAQLTVAQEGLAALRQELQGVEESREGLHREAQEARRALSDEAREKD
VLLLFNSELRATICRAEQEKASFKRSKEEKEQKLLILEEAQAALQQEASALRAHLWELEQ
AGGDARQELRELHRQVRTLKAENQRRSGEAHELQAQCSQEVLELRRQAAKAEAKHEGARK
EVLGLQRKLAEVEAAGEAHGQRLQEHLRESRGAEQTLRAELHSVTRKLQEASGVADALQA
RLDQACHRIHSLEQELAQAEGARQDAEAQLGRLCSTLRRGLGLQRQSPWASPEQPGSPTK
GSDSSQALPGQQGTSPPARPHSPLRWPSPTPGGRSSELMDVATVQDILRDFVQKLREAQR
ERDDSRIQMATLSSRLSEAECRCARAQSRVGQLQKALAEAEEGQRRVEGALSSARAARAL
QKEALRRLELEHLASVRAAGQEKRRLQEQLETLRQALEESRRHSQGLAKQGKLLEEQLTN
LEHRCQKAEVSLEPLRQMEQETLKREEDVARLGAEKEQLDQSLNSLHQEVDGALRQNQQL
QAQMTEMEQAHTQRLQDLTAQHQRDLATEAERLHGARPQATQALESQEWTHQQQVKVLEE
QVASLKEQLDQEVQWRQQAHLGQAFQTGHAQRD
Sequence length 1653
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Leukopenia Associate 30882006
★☆☆☆☆
Found in Text Mining only
Sjogren's Syndrome Associate 30882006
★☆☆☆☆
Found in Text Mining only