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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
CCDC136 locus showed association with a comparable reading/language measure.
Title: Genome-wide screening for DNA variants associated with reading and language traits.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2100E (e-PCR)
- UniSTS:39686

RH66361 (e-PCR)
- UniSTS:73823

GDB:4585443 (e-PCR)
- UniSTS:11698

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)

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

Status: VALIDATED

Source sequence(s)

AC024952, AC025594
NM_001367763.1 → NP_001354692.1 coiled-coil domain-containing protein 136 isoform 7

Status: VALIDATED

Source sequence(s)

AC024952, AC025594
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
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
NM_001367766.1 → NP_001354695.1 coiled-coil domain-containing protein 136 isoform 10

Status: VALIDATED

Source sequence(s)

AC024952, AC025594
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

128790761..128822130

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047420722.1 → XP_047276678.1 coiled-coil domain-containing protein 136 isoform X5
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)
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)
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)
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)
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
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)
XM_017012532.2 → XP_016868021.1 coiled-coil domain-containing protein 136 isoform X2

UniProtKB/TrEMBL

H7C4R2
XM_047420720.1 → XP_047276676.1 coiled-coil domain-containing protein 136 isoform X3
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)
XM_047420721.1 → XP_047276677.1 coiled-coil domain-containing protein 136 isoform X4
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)
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)
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
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

NC_060931.1 Alternate T2T-CHM13v2.0

Range

130102911..130135058

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358816.1 → XP_054214791.1 coiled-coil domain-containing protein 136 isoform X17
XM_054358814.1 → XP_054214789.1 coiled-coil domain-containing protein 136 isoform X5
XM_054358809.1 → XP_054214784.1 coiled-coil domain-containing protein 136 isoform X1
XM_054358810.1 → XP_054214785.1 coiled-coil domain-containing protein 136 isoform X2
XM_054358811.1 → XP_054214786.1 coiled-coil domain-containing protein 136 isoform X3
XM_054358813.1 → XP_054214788.1 coiled-coil domain-containing protein 136 isoform X4
XM_054358812.1 → XP_054214787.1 coiled-coil domain-containing protein 136 isoform X16
XM_054358818.1 → XP_054214793.1 coiled-coil domain-containing protein 136 isoform X19
XM_054358819.1 → XP_054214794.1 coiled-coil domain-containing protein 136 isoform X20
XM_054358815.1 → XP_054214790.1 coiled-coil domain-containing protein 136 isoform X17
XM_054358817.1 → XP_054214792.1 coiled-coil domain-containing protein 136 isoform X18