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    CCDC136 coiled-coil domain containing 136 [ Homo sapiens (human) ]

    Gene ID: 64753, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCDC136provided by HGNC
    Official Full Name
    coiled-coil domain containing 136provided by HGNC
    Primary source
    HGNC:HGNC:22225
    See related
    Ensembl:ENSG00000128596 MIM:611902; AllianceGenome:HGNC:22225
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NAG6
    Summary
    Predicted to be involved in acrosome assembly and single fertilization. Predicted to be located in cytoplasmic vesicle and membrane. Predicted to be active in acrosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 72.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC136 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128790761..128822130)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130102911..130135058)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128431492..128462184)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene calumenin Neighboring gene blue cone (S) opsin upstream regulatory region Neighboring gene opsin 1, short wave sensitive Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18614 Neighboring gene tRNA-Pro (anticodon AGG) 2-3 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:128431137-128431405 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:128470516-128470677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128473526-128474169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128482493-128482997 Neighboring gene filamin C Neighboring gene FLNC antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128498247-128498747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26605 Neighboring gene ATPase H+ transporting V1 subunit F

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis. Zhang XM, et al. World J Gastroenterol, 2004 May 1. PMID 15112360, Free PMC Article
    2. Genome-wide screening for DNA variants associated with reading and language traits. Gialluisi A, et al. Genes Brain Behav, 2014 Sep. PMID 25065397, Free PMC Article
    3. Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. Adams AK, et al. Hum Genet, 2017 Nov. PMID 28866788, Free PMC Article
    4. Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1. Szymanska K, et al. Elife, 2022 Feb 16. PMID 35170427, Free PMC Article
    5. mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells. Merle DA, et al. Antioxidants (Basel), 2021 Dec 3. PMID 34943047, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Missense variant in CCDC136 gene is associated with reading disability.
      Title: Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.
    2. CCDC136 locus showed association with a comparable reading/language measure.
      Title: Genome-wide screening for DNA variants associated with reading and language traits.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. Data suggest that NAG6 may represent a candidate tumor suppressor gene at 7q31-32 loci associated with gastric carcinoma.
      Title: Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129657, MGC176632, DKFZp434G156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acrosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acrosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in single fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in single fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 136
    Names
    nasopharyngeal carcinoma-associated gene 6 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001201372.2 → NP_001188301.1  coiled-coil domain-containing protein 136 isoform 2

      See identical proteins and their annotated locations for NP_001188301.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region, uses an upstream start codon, and lacks nine exons in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AI611323, AK124447, DR003042
      Consensus CDS
      CCDS56510.1
      UniProtKB/Swiss-Prot
      Q96JN2
      Related
      ENSP00000367956.4, ENST00000378685.8
      Conserved Domains (3) summary
      pfam07106
      Location:144 → 243
      TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
      pfam15619
      Location:110 → 292
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl21455
      Location:314 → 390
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001363423.2 → NP_001350352.1  coiled-coil domain-containing protein 136 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK023500, AK124447, AL042602, DA511054, DB050791, DB078673, DR003042
      Conserved Domains (2) summary
      cl25732
      Location:84 → 451
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28204
      Location:509 → 792
      GlgA; Glycogen synthase [Carbohydrate transport and metabolism]

    3. NM_001363424.2 → NP_001350353.1  coiled-coil domain-containing protein 136 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AK023500, AK124447, DA511054, DB050791, DR003042
      Conserved Domains (2) summary
      cl25732
      Location:103 → 394
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28204
      Location:497 → 780
      GlgA; Glycogen synthase [Carbohydrate transport and metabolism]

    4. NM_001367761.1 → NP_001354690.1  coiled-coil domain-containing protein 136 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC024952, AC025594
      Consensus CDS
      CCDS94193.1
      UniProtKB/TrEMBL
      C9JU31
      Related
      ENSP00000419515.1, ENST00000464832.5

    5. NM_001367762.1 → NP_001354691.1  coiled-coil domain-containing protein 136 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC024952, AC025594

    6. NM_001367763.1 → NP_001354692.1  coiled-coil domain-containing protein 136 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC024952, AC025594

    7. NM_001367764.1 → NP_001354693.1  coiled-coil domain-containing protein 136 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC024952, AC025594
      UniProtKB/TrEMBL
      H7C4R2
      Related
      ENSP00000417931.1, ENST00000494552.5

    8. NM_001367765.1 → NP_001354694.1  coiled-coil domain-containing protein 136 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC024952, AC025594
      Related
      ENSP00000420509.1, ENST00000487361.5

    9. NM_001367766.1 → NP_001354695.1  coiled-coil domain-containing protein 136 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC024952, AC025594

    10. NM_022742.5 → NP_073579.5  coiled-coil domain-containing protein 136 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC024952, AC025594
      Consensus CDS
      CCDS47704.1
      UniProtKB/Swiss-Prot
      A4D1K1, A7MCY7, A8MYA7, Q6ZVK7, Q96JN2, Q9H8M3, Q9UFE1
      UniProtKB/TrEMBL
      H7C4R2
      Related
      ENSP00000297788.4, ENST00000297788.9
      Conserved Domains (1) summary
      cl25732
      Location:34 → 401
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      128790761..128822130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446874.2 → XP_024302642.1  coiled-coil domain-containing protein 136 isoform X12

      UniProtKB/TrEMBL
      H7C4R2
      Conserved Domains (1) summary
      cl25732
      Location:34 → 401
      SMC_N; RecF/RecN/SMC N terminal domain

    2. XM_047420722.1 → XP_047276678.1  coiled-coil domain-containing protein 136 isoform X5

    3. XM_011516483.2 → XP_011514785.1  coiled-coil domain-containing protein 136 isoform X6

      UniProtKB/TrEMBL
      H7C4R2
      Conserved Domains (2) summary
      TIGR02168
      Location:275 → 1044
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    4. XM_011516484.2 → XP_011514786.1  coiled-coil domain-containing protein 136 isoform X7

      Conserved Domains (2) summary
      TIGR02168
      Location:275 → 1044
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    5. XM_011516489.2 → XP_011514791.1  coiled-coil domain-containing protein 136 isoform X13

      Conserved Domains (1) summary
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    6. XM_011516485.2 → XP_011514787.1  coiled-coil domain-containing protein 136 isoform X8

      UniProtKB/TrEMBL
      H7C4R2
      Conserved Domains (2) summary
      TIGR02168
      Location:275 → 1043
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    7. XM_024446872.2 → XP_024302640.1  coiled-coil domain-containing protein 136 isoform X1

      Conserved Domains (1) summary
      cl25732
      Location:84 → 451
      SMC_N; RecF/RecN/SMC N terminal domain

    8. XM_011516486.2 → XP_011514788.1  coiled-coil domain-containing protein 136 isoform X9

      UniProtKB/TrEMBL
      H7C4R2
      Conserved Domains (3) summary
      TIGR02168
      Location:263 → 1032
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17045
      Location:138 → 389
      CEP63; Centrosomal protein of 63 kDa
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    9. XM_017012532.2 → XP_016868021.1  coiled-coil domain-containing protein 136 isoform X2

      UniProtKB/TrEMBL
      H7C4R2

    10. XM_047420720.1 → XP_047276676.1  coiled-coil domain-containing protein 136 isoform X3

    11. XM_011516488.3 → XP_011514790.1  coiled-coil domain-containing protein 136 isoform X11

      Conserved Domains (2) summary
      TIGR02168
      Location:275 → 1044
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    12. XM_047420721.1 → XP_047276677.1  coiled-coil domain-containing protein 136 isoform X4

    13. XM_011516487.3 → XP_011514789.1  coiled-coil domain-containing protein 136 isoform X10

      UniProtKB/TrEMBL
      H7C4R2
      Conserved Domains (2) summary
      TIGR02168
      Location:275 → 1044
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    14. XM_011516490.3 → XP_011514792.1  coiled-coil domain-containing protein 136 isoform X14

      Conserved Domains (1) summary
      cl23720
      Location:105 → 194
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    15. XM_024446873.2 → XP_024302641.1  coiled-coil domain-containing protein 136 isoform X12

      UniProtKB/TrEMBL
      H7C4R2
      Conserved Domains (1) summary
      cl25732
      Location:34 → 401
      SMC_N; RecF/RecN/SMC N terminal domain

    16. XM_024446875.2 → XP_024302643.1  coiled-coil domain-containing protein 136 isoform X15

      Conserved Domains (1) summary
      cl25732
      Location:314 → 438
      SMC_N; RecF/RecN/SMC N terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130102911..130135058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358816.1 → XP_054214791.1  coiled-coil domain-containing protein 136 isoform X17

    2. XM_054358814.1 → XP_054214789.1  coiled-coil domain-containing protein 136 isoform X5

    3. XM_054358809.1 → XP_054214784.1  coiled-coil domain-containing protein 136 isoform X1

    4. XM_054358810.1 → XP_054214785.1  coiled-coil domain-containing protein 136 isoform X2

    5. XM_054358811.1 → XP_054214786.1  coiled-coil domain-containing protein 136 isoform X3

    6. XM_054358813.1 → XP_054214788.1  coiled-coil domain-containing protein 136 isoform X4

    7. XM_054358812.1 → XP_054214787.1  coiled-coil domain-containing protein 136 isoform X16

    8. XM_054358818.1 → XP_054214793.1  coiled-coil domain-containing protein 136 isoform X19

    9. XM_054358819.1 → XP_054214794.1  coiled-coil domain-containing protein 136 isoform X20

    10. XM_054358815.1 → XP_054214790.1  coiled-coil domain-containing protein 136 isoform X17

    11. XM_054358817.1 → XP_054214792.1  coiled-coil domain-containing protein 136 isoform X18

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JN2.3 GenPept UniProtKB/Swiss-Prot:Q96JN2

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