MTCL2 microtubule crosslinking factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTCL2provided by HGNC
Official Full Name: microtubule crosslinking factor 2provided by HGNC
Primary source: HGNC:HGNC:16111
See related: Ensembl:ENSG00000149639 MIM:620225; AllianceGenome:HGNC:16111
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: SOGA; SOGA1; KIAA0889; C20orf117
Summary: Predicted to be involved in insulin receptor signaling pathway; negative regulation of gluconeogenesis; and regulation of autophagy. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 9.7), brain (RPKM 6.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (36777447..36863538, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (38501731..38587835, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (35405850..35491941, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

SOGA1 and SOGA2/MTCL1 are CLASP-interacting proteins required for faithful chromosome segregation in human cells.
Title: SOGA1 and SOGA2/MTCL1 are CLASP-interacting proteins required for faithful chromosome segregation in human cells.
Authors selected an HCC-specific RNA-based biomarker panel that depended on the integration of suppressor of glucose autophagy-associated (SOGA1) gene expression with the chosen panel of epigenetic regulators of this gene [long non-coding RNA antisense for X-inactive-specific transcript (lncRNA-TSIX) and microRNA-548-a-3p (miR-548-a-3p)].
Title: Potential role of lncRNA-TSIX, miR-548-a-3p, and SOGA1 mRNA in the diagnosis of hepatocellular carcinoma.

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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

L17688 (e-PCR)
- UniSTS:74509

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

D22S1584 (e-PCR)
- UniSTS:473695

G20546 (e-PCR)
- UniSTS:61280

A005W08 (e-PCR)
- UniSTS:61281

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-57358 (e-PCR)
- UniSTS:24205

RH98788 (e-PCR)
- UniSTS:85181

NoName (e-PCR)
- UniSTS:490192

D20S622 (e-PCR)
- UniSTS:78553

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein SOGA1

Names: SOGA family member 1; suppressor of glucose by autophagy; suppressor of glucose from autophagy; suppressor of glucose, autophagy associated 1; suppressor of glucose, autophagy-associated protein 1

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_080627.4 → NP_542194.2 protein SOGA1 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AL079335, AL132768, AL391602, BQ027014

Consensus CDS

CCDS54459.1

UniProtKB/Swiss-Prot

A6NK10, O94964, Q14DB2, Q5JW51, Q6ZTG8

Related

ENSP00000237536.4, ENST00000237536.9

Conserved Domains (2) summary

pfam11365
Location:380 → 474

DUF3166; Protein of unknown function (DUF3166)

pfam14818
Location:1069 → 1206

DUF4482; Domain of unknown function (DUF4482)
NM_199181.3 → NP_954650.2 protein SOGA1 isoform 2

See identical proteins and their annotated locations for NP_954650.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a downstream start codon, and uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, and a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK126630, AL935080, BF944938, BQ027014

Consensus CDS

CCDS46598.1

UniProtKB/TrEMBL

X6R3R3

Related

ENSP00000279034.5, ENST00000279034.10

Conserved Domains (2) summary

pfam11365
Location:142 → 236

DUF3166; Protein of unknown function (DUF3166)

pfam14818
Location:831 → 968

DUF4482; Domain of unknown function (DUF4482)

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

36777447..36863538 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

38501731..38587835 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152257.1: Suppressed sequence

Description

NM_152257.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.