1. Gene
  2. CLEC12A - C-type lectin domain family 12 member A Gene

CLEC12A - C-type lectin domain family 12 member A Gene

中文名称:C 型凝集素结构域家族 12 成员 A

种属: Homo sapiens

同用名: CLL1; MICL; CD371; CLL-1; DCAL-2

基因 ID: 160364 | 基因类型: protein coding

关于 CLEC12A

Cytogenetic location: 12p13.31-p13.2 Genomic coordinates (GRCh38): 12:9,951,268-10,006,150 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues and 23 paralogues. Biased expression in bone marrow (RPKM 14.2), appendix (RPKM 4.4) and 7 other tissues.

功能概要

该基因编码 C 型凝集素/C 型凝集素样结构域 (CTL/CTLD) 超家族的成员。该家族的成员具有共同的蛋白质折叠并具有多种功能,例如细胞粘附、细胞间信号传导、糖蛋白更新以及在炎症和免疫反应中的作用。该基因编码的蛋白质是粒细胞和单核细胞功能的负调节因子。已经描述了该基因的几种可变剪接的转录本变体,但尚未确定其中一些变体的全长性质。该基因与染色体 12p13 上自然杀伤基因复合区中的其他 CTL/CTLD 超家族成员密切相关。[RefSeq 提供,2011 年 5 月]

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]

CLEC12A 基因产物(4)

mRNA Protein Name
NM_001207010.2 NP_001193939.1 C-type lectin domain family 12 member A isoform 3
NM_001300730.2 NP_001287659.1 C-type lectin domain family 12 member A isoform 4
NM_138337.6 NP_612210.4 C-type lectin domain family 12 member A isoform 1
NM_201623.4 NP_963917.2 C-type lectin domain family 12 member A isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CLEC12A 蛋白结构

Lectin_C

Lectin_C: Lectin C-type domain (152 - 250)

  • 0
  • 100
  • 200
  • 265 a.a.
蛋白主名 其他名称

C-type lectin domain family 12 member A

C-type lectin protein CLL-1

重组 CLEC12A 蛋白

关联疾病

疾病名称 别名
Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Mixed Phenotype Acute Leukemia, B/Myeloid

Doid:0081038

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

Langerhans Cell Histiocytosis

Histiocytosis X

Lch

Langerhans Cell Granulomatosis

Langerhans-Cell Histiocytosis

Letterer-Siwe Disease

Hashimoto-Pritzger Disease

Histiocytosis, Langerhans-Cell

Langerhan'S Cell Histiocytosis

Letterer-Siwe Disease Involving Intra-Abdominal Lymph Nodes

Letterer-Siwe Disease Involving Intrapelvic Lymph Nodes

Letterer-Siwe Disease Involving Intrathoracic Lymph Nodes

Letterer-Siwe Disease Involving Lymph Nodes Of Axilla And Upper Limb

Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face And Neck

Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face, And Neck

Letterer-Siwe Disease Involving Lymph Nodes Of Inguinal Region And Lower Limb

Letterer-Siwe Disease Involving Lymph Nodes Of Multiple Sites

Letterer-Siwe Disease Involving Spleen

Letterer-Siwe Disease Of Intra-Abdominal Lymph Nodes

Letterer-Siwe Disease Of Intrapelvic Lymph Nodes

Letterer-Siwe Disease Of Intrathoracic Lymph Nodes

Letterer-Siwe Disease Of Lymph Nodes Of Axilla And Upper Limb

Letterer-Siwe Disease Of Lymph Nodes Of Axilla And/Or Upper Limb

Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And Neck

Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And/Or Neck

Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region Amd/Or Lower Limb

Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And Lower Limb

Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

Letterer-Siwe Disease Of Lymph Nodes Of Multiple Sites

Letterer-Siwe Disease Of Spleen

Familial Letterer-Siwe Disease

Langerhans-Cell Histiocytosis Nos

Human Immunodeficiency Virus Type 1

Aids

Hiv/Aids

Aids, Delayed/Rapid Progression To

Hiv-1, Susceptibility To

Hiv-1 Viremia, Susceptibility To

Human Immunodeficiency Virus Type 1, Susceptibility To

Hiv-1

Aids, Slow Progression To

Rapid Progression To Aids From Hiv1 Infection

Hiv1 Infection, Resistance To

Hiv1 Infection

Hiv-1 Viremia

Aids, Resistance To

Aids, Rapid Progression To

Hiv/Aids, Susceptibility To

Hiv-1, Resistance To

Hiv1, Resistance To

Hiv1

Hiv-1 Disease, Delayed Progression Of

Hiv-1 Disease, Rapid Progression Of

Hiv Infection, Resistance To

Hiv Type 1, Susceptibility To

Hiv Type 1

Hiv-1 Infection

Human Immunodeficiency Virus I Infection

Acquired Immunodeficiency Syndrome

Hiv-Infection/Aids

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CLEC12A VGNC VGNC:39325
Bos taurus CLEC12A VGNC VGNC:27423
Mus musculus CLEC12A MGD MGI:3040968
Rattus norvegicus CLEC12A RGD RGD:1592991
Macaca mulatta CLEC12A VGNC VGNC:71377
Felis catus CLEC12A VGNC VGNC:60941
Macaca fascicularis CLEC12A NCBI NCBI:102143884
Others CLEC12A NCBI