Gene Gene information from NCBI Gene database.
Entrez ID 64753
Gene name Coiled-coil domain containing 136
Gene symbol CCDC136
Synonyms (NCBI Gene)
NAG6
Chromosome 7
Chromosome location 7q32.1
miRNA miRNA information provided by mirtarbase database.
116
miRTarBase ID miRNA Experiments Reference
MIRT041851 hsa-miR-484 CLASH 23622248
MIRT868037 hsa-miR-2116 CLIP-seq
MIRT868038 hsa-miR-3144-5p CLIP-seq
MIRT868039 hsa-miR-3191 CLIP-seq
MIRT868040 hsa-miR-3675-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IBA
GO:0001675 Process Acrosome assembly ISS
GO:0002080 Component Acrosomal membrane IBA
GO:0002080 Component Acrosomal membrane IEA
GO:0002080 Component Acrosomal membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611902 22225 ENSG00000128596
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JN2
Protein name Coiled-coil domain-containing protein 136 (Nasopharyngeal carcinoma-associated gene 6 protein)
Protein function May play a role in acrosome formation in spermatogenesis and in fertilization.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in gastric tissues. Down-regulated in gastric cancer. {ECO:0000269|PubMed:15112360}.
Sequence
MQAMEGEVLLPALYEEEEEEEEEEEEVEEEEEQVQKGGSVGSLSVNKHRGLSLTETELEE
LRAQVLQLVAELEETRELAGQHEDDSLELQGLLEDERLASAQQAEVFTKQIQQLQGELRS
LREEISLLEHEKESELKEIEQELHLAQAEIQSLRQAAEDSATEHESDIASLQEDLCRMQN
ELEDMERIRGDYEMEIASLRAEMEMKSSEPSGSLGLSDYSGLQEELQELRERYHFLNEEY
RALQESNSSLTGQLADLESERTQRATERWLQSQTLSMTSAESQTSEMDFLEPDPEMQLLR
QQLRDAEEQMHGMKNKCQELCCELEELQHHRQVSEEEQRRLQRELKCAQNEVLRFQTSHS
VTQNEELKSRLCTLQKKYDTSQDEQNELLKMQLQLQTELRQLKVMKSTLVENQSEKELLC
RLQKLHLQHQNVTCEKEKLLERQQQLQEELQCHEAELQHLRDTVASFKESNEKDTETHAQ
LQEMKQLYQASKDELERQKHMYDQLEQDLLLCQLELKELKASHPIPEDKGKCANKCDTLL
SRLTELQEKYKASQKEMGQLQMEQCELLEDQRRMQEEQGQLQEELHRLTLPLPKSGLLLK
SQELLTKLEDLCELQLLYQGMQEEQKKLIQNQDCVLKEQLEIHEELRRFKESHFQEVLEN
PDDSKLAKSSKCNRNKQSKLLMEQMQALQVMYDAGQAKQELLQQEQGRLLEERKRLQADL
QLCLEEMQLLQVQSPSIKMSLESYGKSYGSMVPSNENCRKTYDTTVDDNESYYKSYTSTQ
TSSKSFLKSYDSSTSASEAYGKSYCTTSNSSITYKKSYGSTSSSDTCQKSFVSSCTDEEP
AEPEDMERFEEMVVKVLIKLQAVQAMYQISQEEHSQLQEQMEKLLAKQKDLKEELDACER
EFKECMECLEKPMAPQNDKNEIKELQTKLRELQLQYQASMDEQGRLLVVQEQLEGQLQCC
QEELRQLREKRPSVVKEARGKNANKNMNKNANGVKMKKVTKPCSDTSESDLETRKSLEVV
LYYKASQRKLDGLAKEEEKKEEMEEEKKQVKEEAKEQCGDELVAEPADPEEAKSTEDQEE
NEEDKEEEEKEEDSEEEEDDADSSLESPEENNPLRLSESKKSSPTPNPPIFSLPLVGLVV
ISALLWCWWAETSS
Sequence length 1154
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY 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
Carcinoma Carcinoma BEFREE 15112360
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia GWASCAT_DG 25065397
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 15112360
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 15112360
★☆☆☆☆
Found in Text Mining only
Specific language impairment Specific Language Impairment GWASCAT_DG 25065397
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma Stomach Carcinoma BEFREE 15112360
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 15112360 Associate
★☆☆☆☆
Found in Text Mining only