NUDCD2 NudC domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDCD2provided by HGNC
Official Full Name: NudC domain containing 2provided by HGNC
Primary source: HGNC:HGNC:30535
See related: Ensembl:ENSG00000170584 MIM:620136; AllianceGenome:HGNC:30535
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: NudCL2
Summary: Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding. Located in cytosol; intercellular bridge; and mitotic spindle. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 16.1), prostate (RPKM 14.4) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5q34

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (163446526..163460102, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (163981702..163995279, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (162873532..162887108, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
Title: Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90.
Title: NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90.
NudC-like protein 2 restrains centriole amplification by stabilizing HERC2.
Title: NudC-like protein 2 restrains centriole amplification by stabilizing HERC2.
NudCL2, a homolog of Aspergillus NudC, which shares significant homology with human NudC and NudCL was identified. It regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone.
Title: NudC-like protein 2 regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

A005C11 (e-PCR)
- UniSTS:40007

G32223 (e-PCR)
- UniSTS:116829

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

RH36151 (e-PCR)
- UniSTS:53394

L17971 (e-PCR)
- UniSTS:43966

WI-14118 (e-PCR)
- UniSTS:1732

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in kinetochore	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in spindle pole	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: nudC domain-containing protein 2

Names: NudC-like protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001329991.2 → NP_001316920.1 nudC domain-containing protein 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC112205

Conserved Domains (1) summary

cl00175
Location:2 → 54

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
NM_145266.6 → NP_660309.1 nudC domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_660309.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC112205, BX538290, DA120610

Consensus CDS

CCDS4361.1

UniProtKB/Swiss-Prot

B2R4V0, Q8WVJ2

UniProtKB/TrEMBL

E5RFP0

Related

ENSP00000304854.3, ENST00000302764.9

Conserved Domains (1) summary

cd06494
Location:12 → 104

p23_NUDCD2_like; p23-like NUD (nuclear distribution) C-like found in human NUDC domain-containing protein 2 (NUDCD2) and similar proteins. Little is known about the function of the proteins in this subgroup.