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

Gene ID: 64753, updated on 7-Apr-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 integral component of membrane. Predicted to be active in acrosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 72.9) See more
Orthologs
mouse all
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Genomic context

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Location:
7q32.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128790761..128822130)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130102911..130135058)
105.20220307 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
  • 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 (30) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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_2023_10

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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