1. Gene
  2. ALS2CL - ALS2 C-terminal like Gene

ALS2CL - ALS2 C-terminal like Gene

Homo sapiens

Also known as RN49018

Gene ID: 259173 | Gene type: protein coding

About ALS2CL

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:46,668,995-46,693,679 (from NCBI)

This gene has 10 transcripts (splice variants), 129 orthologues and 7 paralogues. Broad expression in skin (RPKM 30.9), esophagus (RPKM 10.4) and 18 other tissues.

Summary

Enables identical protein binding activity. Acts upstream of or within endosome organization. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022]

ALS2CL Products(2)

mRNA Protein Name
NM_001190707.2 NP_001177636.1 ALS2 C-terminal-like protein isoform 1
NM_147129.5 NP_667340.2 ALS2 C-terminal-like protein isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALS2CL Protein Structure

MORN

MORN: MORN repeat (358 - 378)

MORN

MORN: MORN repeat (412 - 427)

MORN

MORN: MORN repeat (432 - 448)

MORN

MORN: MORN repeat (459 - 475)

MORN

MORN: MORN repeat (483 - 499)

MORN

MORN: MORN repeat (506 - 525)

MORN

MORN: MORN repeat (529 - 550)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (836 - 936)

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  • 953 a.a.
Protein Preferred Names Protein Names

ALS2 C-terminal-like protein

ALS2CL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ALS2CL Q60I27 SAXO4 Homo sapiens Q7Z5V6-2
Validated Y2H
32296183
Intra
ALS2CL Q60I27 EEF1AKMT3 Homo sapiens Q96AZ1
Validated Y2H
32296183
Intra
ALS2CL Q60I27 RAB22A Homo sapiens Q9UL26
Validated Y2H
32296183
Intra
ALS2CL Q60I27 RSPH14 Homo sapiens Q9UHP6
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 6

DFNB6

Neurosensory Nonsyndromic Recessive Deafness 6

Nsrd6

Autosomal Recessive Nonsyndromic Deafness 6

Autosomal Recessive Deafness 6

Deafness, Autosomal Recessive, 6

Deafness Neurosensory Autosomal Recessive 6

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6

Deafness, Autosomal Recessive, Type 6

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ALS2CL RGD RGD:1305208
Felis catus ALS2CL VGNC VGNC:59761
Canis familiaris ALS2CL VGNC VGNC:54571
Mus musculus ALS2CL MGD MGI:2447532
Macaca mulatta ALS2CL VGNC VGNC:69649
Bos taurus ALS2CL VGNC VGNC:25852